#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
ISG15	9636	broad.mit.edu	37	1	949562	949562	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:949562G>A	ENST00000379389.4	+	2	353	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	68	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)	p.G68S(1)		endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTGGGCCCCGGCAGCACGGT	0.662																																						uc001acj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)GGC>AGC		ISG15 ubiquitin-like modifier precursor							44.0	45.0	45.0					1																	949562		2203	4299	6502	SO:0001583	missense	9636				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding	g.chr1:949562G>A	BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.202G>A	1.37:g.949562G>A	ENSP00000368699:p.Gly68Ser						p.G68S	NM_005101	NP_005092	P05161	ISG15_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	2	309	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	68			Ubiquitin-like 1.		Q5SVA4|Q7Z2G2|Q96GF0	Missense_Mutation	SNP	ENST00000379389.4	37	c.202G>A	CCDS6.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173237	0.57584	.	.	ENSG00000187608	ENST00000379389	T	0.76060	-0.99	4.25	0.122	0.14702	Ubiquitin supergroup (1);Ubiquitin (2);	0.537578	0.18950	N	0.126710	T	0.66597	0.2805	M	0.64080	1.96	0.09310	N	1	P	0.45715	0.865	B	0.40659	0.336	T	0.60672	-0.7217	10	0.87932	D	0	-19.1203	6.7695	0.23587	0.4099:0.0:0.5901:0.0	.	68	P05161	ISG15_HUMAN	S	68	ENSP00000368699:G68S	ENSP00000368699:G68S	G	+	1	0	ISG15	939425	0.006000	0.16342	0.005000	0.12908	0.874000	0.50279	1.105000	0.31086	-0.049000	0.13379	0.561000	0.74099	GGC		PASS	0.662	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097989.1	NM_005101		37	47	37	47	---	---	---	---
CFAP74	85452	broad.mit.edu	37	1	1897928	1897928	+	IGR	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:1897928A>T								TMEM52 (47216 upstream) : C1orf222 (21634 downstream)														p.L428*(1)									GACTTCCAGCAACCGAGAGGG	0.587																																						uc001aim.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1282-1284)TTG>TAG		hypothetical protein LOC85452							25.0	30.0	28.0					1																	1897928		1882	4107	5989	SO:0001628	intergenic_variant	85452							g.chr1:1897928A>T																													1.37:g.1897928A>T						KIAA1751_uc009vkz.1_Nonsense_Mutation_p.L428*	p.L428*	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	12	1439	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	428						Nonsense_Mutation	SNP		37	c.1283T>A		.	.	.	.	.	.	.	.	.	.	a	34	5.323887	0.95708	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.87	3.87	0.44632	.	1.011940	0.07942	N	0.979401	.	.	.	.	.	.	0.30601	N	0.760539	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-3.3223	9.6256	0.39748	1.0:0.0:0.0:0.0	.	.	.	.	X	428	.	ENSP00000270720:L428X	L	-	2	0	C1orf222	1887788	0.013000	0.17824	0.002000	0.10522	0.006000	0.05464	2.342000	0.43992	1.696000	0.51158	0.375000	0.23000	TTG	0	PASS	0.587									22	45	22	45	---	---	---	---
SPSB1	80176	broad.mit.edu	37	1	9416114	9416114	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:9416114C>T	ENST00000328089.6	+	2	505	c.164C>T	c.(163-165)tCa>tTa	p.S55L	SPSB1_ENST00000357898.3_Missense_Mutation_p.S55L|SPSB1_ENST00000377399.2_Missense_Mutation_p.S55L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	55	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.S55L(1)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCTGCATTCATGGAACAAC	0.567																																						uc010oae.1																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)TCA>TTA		splA/ryanodine receptor domain and SOCS box							155.0	149.0	151.0					1																	9416114		2203	4300	6503	SO:0001583	missense	80176				intracellular signal transduction	cytoplasm		g.chr1:9416114C>T		CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.164C>T	1.37:g.9416114C>T	ENSP00000330221:p.Ser55Leu					SPSB1_uc001apv.2_Missense_Mutation_p.S55L	p.S55L	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)	2	503	+	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	55			B30.2/SPRY.		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	c.164C>T	CCDS102.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701897	0.68501	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.80183	2.485	0.80722	D	1	D	0.62365	0.991	P	0.59487	0.858	T	0.65849	-0.6068	10	0.44086	T	0.13	-17.0345	17.997	0.89187	0.0:1.0:0.0:0.0	.	55	Q96BD6	SPSB1_HUMAN	L	55	ENSP00000330221:S55L;ENSP00000409235:S55L;ENSP00000350573:S55L;ENSP00000366616:S55L	ENSP00000330221:S55L	S	+	2	0	SPSB1	9338701	1.000000	0.71417	0.903000	0.35520	0.022000	0.10575	7.764000	0.85297	2.485000	0.83878	0.655000	0.94253	TCA		PASS	0.567	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2	NM_025106		29	111	29	111	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10386247	10386247	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:10386247C>T	ENST00000377086.1	+	27	2956	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	KIF1B_ENST00000263934.6_Silent_p.S872S|KIF1B_ENST00000377081.1_Silent_p.S918S			O60333	KIF1B_HUMAN	kinesin family member 1B	918					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S872S(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCCGATTCCGACATCACTG	0.592																																						uc001aqx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2752-2754)TCC>TCT		kinesin family member 1B isoform b							146.0	140.0	142.0					1																	10386247		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10386247C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2754C>T	1.37:g.10386247C>T						KIF1B_uc001aqw.3_Silent_p.S872S|KIF1B_uc001aqy.2_Silent_p.S892S|KIF1B_uc001aqz.2_Silent_p.S918S|KIF1B_uc001ara.2_Silent_p.S878S|KIF1B_uc001arb.2_Silent_p.S904S	p.S918S	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	27	2956	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	918					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.2754C>T																																																																																					PASS	0.592	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			31	141	31	141	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12016994	12016994	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:12016994G>C	ENST00000196061.4	+	7	691	c.664G>C	c.(664-666)Gaa>Caa	p.E222Q	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.E269Q	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	222					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.E222Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCAAGTTTGAAATGGGCCA	0.612																																						uc001atm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(664-666)GAA>CAA		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						163.0	135.0	144.0					1																	12016994		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12016994G>C	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.664G>C	1.37:g.12016994G>C	ENSP00000196061:p.Glu222Gln					PLOD1_uc010obb.1_Missense_Mutation_p.E269Q	p.E222Q	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	7	755	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	222					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.664G>C	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738677	0.69304	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	T;T	0.27720	1.65;1.65	4.22	3.28	0.37604	.	0.055535	0.64402	N	0.000001	T	0.50973	0.1647	M	0.75615	2.305	0.80722	D	1	P;D	0.71674	0.911;0.998	P;D	0.63597	0.603;0.916	T	0.54084	-0.8346	10	0.51188	T	0.08	.	12.9122	0.58187	0.0:0.1643:0.8356:0.0	.	269;222	B4DR87;Q02809	.;PLOD1_HUMAN	Q	269;222	ENSP00000365548:E269Q;ENSP00000196061:E222Q	ENSP00000196061:E222Q	E	+	1	0	PLOD1	11939581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.574000	0.98184	0.954000	0.37851	0.561000	0.74099	GAA		PASS	0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		3	120	3	120	---	---	---	---
C1orf158	93190	broad.mit.edu	37	1	12820845	12820845	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:12820845G>T	ENST00000288048.5	+	4	762	c.546G>T	c.(544-546)ccG>ccT	p.P182P	C1orf158_ENST00000376210.3_Silent_p.P144P	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	182								p.P182P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCGGTCCCGGTCCCTCCCC	0.587																																						uc001auh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(544-546)CCG>CCT		hypothetical protein LOC93190							112.0	95.0	101.0					1																	12820845		2203	4300	6503	SO:0001819	synonymous_variant	93190							g.chr1:12820845G>T	BX647383	CCDS147.1	1p36.21	2008-02-05			ENSG00000157330	ENSG00000157330			28567	protein-coding gene	gene with protein product						12477932	Standard	NM_152290		Approved	MGC35194	uc001auh.3	Q8N1D5	OTTHUMG00000001888	ENST00000288048.5:c.546G>T	1.37:g.12820845G>T							p.P182P	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	4	762	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	182					Q5VUY4	Silent	SNP	ENST00000288048.5	37	c.546G>T	CCDS147.1																																																																																				PASS	0.587	C1orf158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005325.1	NM_152290		6	84	6	84	---	---	---	---
PTAFR	5724	broad.mit.edu	37	1	28476843	28476843	+	Silent	SNP	C	C	T	rs568828881		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:28476843C>T	ENST00000373857.3	-	2	1324	c.690G>A	c.(688-690)gcG>gcA	p.A230A	PTAFR_ENST00000305392.3_Silent_p.A230A|PTAFR_ENST00000539896.1_Silent_p.A230A	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	230					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.A230A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCCACAGCGCCCGGCGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		21482	0.0		0.0	False		,,,				2504	0.001					uc001bpl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(688-690)GCG>GCA		platelet-activating factor receptor							63.0	58.0	59.0					1																	28476843		2203	4300	6503	SO:0001819	synonymous_variant	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28476843C>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.690G>A	1.37:g.28476843C>T						PTAFR_uc001bpm.3_Silent_p.A230A|PTAFR_uc009vte.2_Silent_p.A230A	p.A230A	NM_000952	NP_000943	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	817	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	230			Cytoplasmic (Potential).		A3KMC8|A8K2H5	Silent	SNP	ENST00000373857.3	37	c.690G>A	CCDS318.1																																																																																				PASS	0.612	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		6	36	6	36	---	---	---	---
CDCA8	55143	broad.mit.edu	37	1	38158662	38158662	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:38158662G>T	ENST00000373055.1	+	2	453	c.180G>T	c.(178-180)cgG>cgT	p.R60R	C1orf109_ENST00000358011.4_5'Flank|C1orf109_ENST00000464085.1_5'Flank|CDCA8_ENST00000327331.2_Silent_p.R60R	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	60	Required for centromere localization.|Required for interaction with INCENP and BIRC5.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.				chromosome organization (GO:0051276)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.R60R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGATCCTGCGGCTCCCCAAGG	0.567																																						uc001cbr.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(178-180)CGG>CGT		cell division cycle associated 8							61.0	61.0	61.0					1																	38158662		2203	4300	6503	SO:0001819	synonymous_variant	55143				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding	g.chr1:38158662G>T	BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690			14629	protein-coding gene	gene with protein product	"""borealin"""	609977				12188893, 15260989	Standard	NM_001256875		Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.180G>T	1.37:g.38158662G>T						C1orf109_uc010oig.1_5'Flank|C1orf109_uc001cbo.2_5'Flank|C1orf109_uc001cbp.2_5'Flank|C1orf109_uc001cbq.1_5'Flank|CDCA8_uc001cbs.2_Silent_p.R60R|CDCA8_uc010oih.1_5'UTR	p.R60R	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN			3	287	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	60			Required for centromere localization.|Required for interaction with SENP3.|Required to form a minimal CPC core complex that localizes to the central spindle and midbody and properly executes the role of the CPC during cytokinesis.|Required for interaction with INCENP and BIRC5.		D3DPT4|Q53HN1|Q96AM3|Q9NVW5	Silent	SNP	ENST00000373055.1	37	c.180G>T	CCDS424.1																																																																																				PASS	0.567	CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012473.1	NM_018101		23	42	23	42	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798692	39798692	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:39798692G>A	ENST00000372915.3	+	36	6534	c.6447G>A	c.(6445-6447)ttG>ttA	p.L2149L	MACF1_ENST00000567887.1_Silent_p.L2181L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.L584L|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Silent_p.L2144L|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2149					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L584L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGTGCCGTTGGTGGTTGACA	0.468																																						uc010oiu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1750-1752)TTG>TTA		microfilament and actin filament cross-linker							61.0	59.0	60.0					1																	39798692		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798692G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6447G>A	1.37:g.39798692G>A						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.L584L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1883	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2149					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.1752G>A																																																																																					PASS	0.468	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	68	9	68	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39888172	39888172	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:39888172G>C	ENST00000372915.3	+	58	16045	c.15958G>C	c.(15958-15960)Gag>Cag	p.E5320Q	MACF1_ENST00000567887.1_Missense_Mutation_p.E5352Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3232Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3755Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E3253Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3253Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E5315Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3253Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5320					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E3755Q(1)|p.E3253Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACATGGAAGAGATCAATGC	0.418																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(11263-11265)GAG>CAG		microfilament and actin filament cross-linker							113.0	106.0	108.0					1																	39888172		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888172G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15958G>C	1.37:g.39888172G>C	ENSP00000362006:p.Glu5320Gln					MACF1_uc010ois.1_Missense_Mutation_p.E3253Q|MACF1_uc001cda.1_Missense_Mutation_p.E3140Q|MACF1_uc001cdc.1_Missense_Mutation_p.E2319Q	p.E3755Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		23	11394	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5320			Spectrin 6.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.11263G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.96|15.96	2.986337|2.986337	0.53934|0.53934	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035|ENST00000372925	T;T;T;T;T;T;T|.	0.53857|.	0.6;0.6;0.6;0.6;0.6;0.6;0.6|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.095984|.	0.45126|.	D|.	0.000382|.	T|T	0.75079|0.75079	0.3801|0.3801	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	D;D;P|.	0.62365|.	0.991;0.979;0.941|.	P;P;P|.	0.59889|.	0.824;0.865;0.786|.	T|T	0.70718|0.70718	-0.4795|-0.4795	10|5	0.40728|.	T|.	0.16|.	.|.	20.3812|20.3812	0.98933|0.98933	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5320;3253;3197|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|T	3253;5320;3253;3253;3232;3755;69|2365	ENSP00000439537:E3253Q;ENSP00000362006:E5320Q;ENSP00000354573:E3253Q;ENSP00000313438:E3253Q;ENSP00000444364:E3232Q;ENSP00000289893:E3755Q;ENSP00000433104:E69Q|.	ENSP00000289893:E3755Q|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39660759|39660759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.136000|5.136000	0.64783|0.64783	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	GAG|AGA		PASS	0.418	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		13	55	13	55	---	---	---	---
NT5C1A	84618	broad.mit.edu	37	1	40126838	40126838	+	Silent	SNP	C	C	A	rs200853948		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:40126838C>A	ENST00000235628.1	-	5	653	c.654G>T	c.(652-654)tcG>tcT	p.S218S		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	218					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.S218S(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGACTCGTCCGAGAAGAGCA	0.622																																						uc001cdq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(652-654)TCG>TCT		5'-nucleotidase, cytosolic IA							81.0	73.0	76.0					1																	40126838		2203	4300	6503	SO:0001819	synonymous_variant	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40126838C>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.654G>T	1.37:g.40126838C>A							p.S218S	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		5	654	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	218					Q3SYB9|Q5TG98|Q9BWT8	Silent	SNP	ENST00000235628.1	37	c.654G>T	CCDS440.1																																																																																				PASS	0.622	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		3	84	3	84	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292729	45292729	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:45292729C>G	ENST00000372192.3	-	17	2670	c.2540G>C	c.(2539-2541)aGa>aCa	p.R847T	PTCH2_ENST00000447098.2_Missense_Mutation_p.R847T	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	847					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.R847T(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CAGTCCCTCTCTGTCCACCAG	0.642									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2539-2541)AGA>ACA		patched 2							93.0	95.0	94.0					1																	45292729		2203	4300	6503	SO:0001583	missense	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292729C>G	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2540G>C	1.37:g.45292729C>G	ENSP00000361266:p.Arg847Thr					PTCH2_uc010olg.1_Missense_Mutation_p.R545T	p.R847T	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			17	2552	-	Acute lymphoblastic leukemia(166;0.155)		847			Extracellular (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	ENST00000372192.3	37	c.2540G>C	CCDS516.1	.	.	.	.	.	.	.	.	.	.	C	1.391	-0.580861	0.03854	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.92299	-3.01;-3.01	4.05	0.281	0.15687	.	0.521842	0.17724	N	0.164129	T	0.79621	0.4477	N	0.12182	0.205	0.21184	N	0.999763	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.63959	-0.6519	10	0.16896	T	0.51	-40.6265	6.5663	0.22513	0.0:0.0817:0.2945:0.6239	.	847;847	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	T	847	ENSP00000389703:R847T;ENSP00000361266:R847T	ENSP00000361266:R847T	R	-	2	0	PTCH2	45065316	0.004000	0.15560	0.106000	0.21319	0.151000	0.21798	0.103000	0.15292	0.029000	0.15352	-0.379000	0.06801	AGA		PASS	0.642	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		35	96	35	96	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45293550	45293550	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:45293550G>A	ENST00000372192.3	-	14	2153	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	PTCH2_ENST00000447098.2_Nonsense_Mutation_p.Q675*	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	675					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.Q675*(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGGGCAAACTGATAGCGGGCG	0.597									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - Nonsense(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2023-2025)CAG>TAG		patched 2							76.0	69.0	71.0					1																	45293550		2203	4300	6503	SO:0001587	stop_gained	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45293550G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2023C>T	1.37:g.45293550G>A	ENSP00000361266:p.Gln675*					PTCH2_uc010olg.1_Nonsense_Mutation_p.Q373*	p.Q675*	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			14	2035	-	Acute lymphoblastic leukemia(166;0.155)		675			Cytoplasmic (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Nonsense_Mutation	SNP	ENST00000372192.3	37	c.2023C>T	CCDS516.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534580	0.64972	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	.	.	.	4.74	3.83	0.44106	.	0.363968	0.20097	N	0.099320	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-19.0785	6.5718	0.22543	0.0926:0.0:0.5998:0.3076	.	.	.	.	X	675	.	ENSP00000361266:Q675X	Q	-	1	0	PTCH2	45066137	0.998000	0.40836	0.996000	0.52242	0.309000	0.27889	2.905000	0.48727	0.983000	0.38602	0.557000	0.71058	CAG		PASS	0.597	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		12	76	12	76	---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46874151	46874151	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:46874151C>G	ENST00000243167.8	+	8	1056	c.972C>G	c.(970-972)ccC>ccG	p.P324P	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	324					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)	p.P324P(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCTCTCAGCCCCTGCGTGTGG	0.602																																						uc001cpu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(970-972)CCC>CCG		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						196.0	204.0	201.0					1																	46874151		2203	4300	6503	SO:0001819	synonymous_variant	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46874151C>G	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.972C>G	1.37:g.46874151C>G						FAAH_uc001cpv.2_RNA	p.P324P	NM_001441	NP_001432	O00519	FAAH1_HUMAN			8	1054	+	Acute lymphoblastic leukemia(166;0.155)		324			Cytoplasmic (By similarity).		D3DQ19|Q52M86|Q5TDF8	Silent	SNP	ENST00000243167.8	37	c.972C>G	CCDS535.1																																																																																				PASS	0.602	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		14	347	14	347	---	---	---	---
JUN	3725	broad.mit.edu	37	1	59248409	59248409	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:59248409C>T	ENST00000371222.2	-	1	1376	c.334G>A	c.(334-336)Gag>Aag	p.E112K	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	112					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E112Q(1)|p.E112K(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	ACGAAGCCCTCGGCGAAGCCC	0.672			A		sarcoma																																	uc001cze.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		2	Substitution - Missense(2)		lung(2)		0						c.(334-336)GAG>AAG		jun oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						52.0	56.0	55.0					1																	59248409		2197	4294	6491	SO:0001583	missense	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248409C>T	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.334G>A	1.37:g.59248409C>T	ENSP00000360266:p.Glu112Lys					uc001czf.2_5'Flank|uc010oop.1_5'Flank	p.E112K	NM_002228	NP_002219	P05412	JUN_HUMAN			1	1377	-	all_cancers(7;8.55e-07)		112					Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.334G>A	CCDS610.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121203	0.94385	.	.	ENSG00000177606	ENST00000371222	T	0.35421	1.31	4.16	4.16	0.48862	Jun-like transcription factor (1);	0.000000	0.64402	U	0.000001	T	0.52613	0.1745	L	0.45470	1.425	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.57820	-0.7745	10	0.72032	D	0.01	-3.6967	16.6844	0.85301	0.0:1.0:0.0:0.0	.	112	P05412	JUN_HUMAN	K	112	ENSP00000360266:E112K	ENSP00000360266:E112K	E	-	1	0	JUN	59020997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.278000	0.78587	2.139000	0.66308	0.561000	0.74099	GAG		PASS	0.672	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		4	107	4	107	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75608891	75608891	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:75608891G>C	ENST00000294638.5	+	6	1142	c.478G>C	c.(478-480)Gca>Cca	p.A160P	LHX8_ENST00000356261.3_Missense_Mutation_p.A150P	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	160	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A160P(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTATCACTTGGCATGCTTTGC	0.473																																						uc001dgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(478-480)GCA>CCA		LIM homeobox 8							119.0	112.0	114.0					1																	75608891		2203	4299	6502	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75608891G>C	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.478G>C	1.37:g.75608891G>C	ENSP00000294638:p.Ala160Pro					LHX8_uc001dgq.2_Missense_Mutation_p.A99P	p.A160P	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			6	1142	+			160			LIM zinc-binding 2.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.478G>C	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932092	0.92389	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86956	-2.19;-2.19	5.3	5.3	0.74995	Zinc finger, LIM-type (5);	0.095926	0.64402	D	0.000001	D	0.93324	0.7872	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.93532	0.6870	10	0.72032	D	0.01	.	19.3413	0.94342	0.0:0.0:1.0:0.0	.	160	Q68G74	LHX8_HUMAN	P	160;150	ENSP00000294638:A160P;ENSP00000348597:A150P	ENSP00000294638:A160P	A	+	1	0	LHX8	75381479	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.660000	0.90430	0.650000	0.86243	GCA		PASS	0.473	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		35	80	35	80	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79119954	79119954	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:79119954G>A	ENST00000370747.4	+	3	569	c.484G>A	c.(484-486)Ggg>Agg	p.G162R	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	162					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.G162R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGATAAAAGGGGTCATTGA	0.303																																						uc001dip.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(484-486)GGG>AGG		interferon-induced, hepatitis C-associated							90.0	89.0	89.0					1																	79119954		2202	4299	6501	SO:0001583	missense	10561				response to virus	cytoplasm		g.chr1:79119954G>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.484G>A	1.37:g.79119954G>A	ENSP00000359783:p.Gly162Arg					IFI44_uc010orr.1_Missense_Mutation_p.G162R|IFI44_uc010ors.1_5'UTR	p.G162R	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			3	608	+			162					B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	ENST00000370747.4	37	c.484G>A	CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	0.584	-0.835800	0.02713	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.22539	3.12;1.95	4.14	2.02	0.26589	.	0.542047	0.20283	N	0.095416	T	0.04588	0.0125	N	0.19112	0.55	0.09310	N	0.999996	D;D	0.56287	0.975;0.975	P;P	0.49012	0.598;0.598	T	0.14476	-1.0471	10	0.07175	T	0.84	.	6.4136	0.21704	0.2467:0.0:0.7533:0.0	.	162;162	B7ZB11;Q8TCB0	.;IFI44_HUMAN	R	162;38	ENSP00000359783:G162R;ENSP00000399477:G38R	ENSP00000359783:G162R	G	+	1	0	IFI44	78892542	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.001000	0.12947	0.575000	0.29434	0.455000	0.32223	GGG		PASS	0.303	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		18	51	18	51	---	---	---	---
LRRC8C	84230	broad.mit.edu	37	1	90179549	90179549	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:90179549C>T	ENST00000370454.4	+	3	1675	c.1420C>T	c.(1420-1422)Ctg>Ttg	p.L474L	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	474					fat cell differentiation (GO:0045444)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L474L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AGAGCTCTCTCTGCACCAGTG	0.438																																						uc001dnl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(1420-1422)CTG>TTG		leucine rich repeat containing 8 family, member							89.0	85.0	86.0					1																	90179549		2203	4300	6503	SO:0001819	synonymous_variant	84230					endoplasmic reticulum membrane|integral to membrane		g.chr1:90179549C>T		CCDS725.1	1p22.2	2011-02-10			ENSG00000171488	ENSG00000171488			25075	protein-coding gene	gene with protein product	"""hypothetical protein AD158"""	612889				11230166	Standard	NM_032270		Approved	AD158	uc001dnl.4	Q8TDW0	OTTHUMG00000010305	ENST00000370454.4:c.1420C>T	1.37:g.90179549C>T							p.L474L	NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN		all cancers(265;0.00756)|Epithelial(280;0.0313)	3	1662	+		all_lung(203;0.126)	474			LRR 4.		B3KXS9|Q29RV6|Q9H075	Silent	SNP	ENST00000370454.4	37	c.1420C>T	CCDS725.1																																																																																				PASS	0.438	LRRC8C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028435.2	NM_032270		8	92	8	92	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94528861	94528862	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:94528861_94528862CC>AT	ENST00000370225.3	-	12	1652_1653	c.1566_1567GG>AT	c.(1564-1569)ctGGat>ctATat	p.D523Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.D523Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	523			D -> E (in STGD1).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.D523Y(2)|p.L522L(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAAACTTATCCAGGACCAAGC	0.485																																						uc001dqh.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(1567-1569)GAT>TAT|c.(1564-1566)CTG>CTA		ATP-binding cassette, sub-family A member 4																																				SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528861C>A|g.chr1:94528862C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1566_1567delinsAT	1.37:g.94528861_94528862delinsAT	ENSP00000359245:p.Asp523Tyr					ABCA4_uc010otn.1_Missense_Mutation_p.D523Y|ABCA4_uc010otn.1_Silent_p.L522L	p.D523Y|p.L522L	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	12	1671|1670	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	523|522		D -> E (in STGD1).|	Extracellular.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation|Silent	SNP	ENST00000370225.3	37	c.1567G>T|c.1566G>A	CCDS747.1																																																																																				PASS	0.485	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		15	115|113	15	113	---	---	---	---
OLFM3	118427	broad.mit.edu	37	1	102270254	102270254	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:102270254C>T	ENST00000338858.5	-	6	976	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.R306Q			Q96PB7	NOE3_HUMAN	olfactomedin 3	326	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.R306Q(1)|p.R326Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTCCAGGCTTCGTTGGGCAAG	0.438																																						uc001duf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(976-978)CGA>CAA		olfactomedin 3							100.0	92.0	94.0					1																	102270254		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270254C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.977G>A	1.37:g.102270254C>T	ENSP00000345192:p.Arg326Gln					OLFM3_uc001dug.2_Missense_Mutation_p.R306Q|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.R231Q|OLFM3_uc001due.2_RNA	p.R326Q	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1048	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	326			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.977G>A		.	.	.	.	.	.	.	.	.	.	C	26.7	4.763264	0.89932	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858	D;D	0.89681	-2.55;-2.55	5.77	5.77	0.91146	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	L	0.47016	1.485	0.80722	D	1	D;D	0.71674	0.979;0.998	P;D	0.76575	0.611;0.988	D	0.89320	0.3639	10	0.35671	T	0.21	.	19.9831	0.97336	0.0:1.0:0.0:0.0	.	306;326	Q5T3V6;Q96PB7	.;NOE3_HUMAN	Q	177;306;326	ENSP00000359121:R306Q;ENSP00000345192:R326Q	ENSP00000345192:R326Q	R	-	2	0	OLFM3	102042842	0.944000	0.32072	0.997000	0.53966	0.980000	0.70556	7.818000	0.86416	2.728000	0.93425	0.650000	0.86243	CGA		PASS	0.438	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			8	77	8	77	---	---	---	---
AKNAD1	254268	broad.mit.edu	37	1	109394332	109394332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:109394332G>A	ENST00000370001.3	-	2	1223	c.955C>T	c.(955-957)Cag>Tag	p.Q319*	AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.Q319*|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.Q319*	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	319						cytoplasm (GO:0005737)		p.Q319*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCCCTTTCTGCTCTTGATGT	0.413																																						uc001dwa.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(955-957)CAG>TAG		hypothetical protein LOC254268							253.0	246.0	248.0					1																	109394332		2203	4300	6503	SO:0001587	stop_gained	254268							g.chr1:109394332G>A	AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.955C>T	1.37:g.109394332G>A	ENSP00000359018:p.Gln319*					AKNAD1_uc010ovb.1_Intron|AKNAD1_uc001dwb.2_RNA	p.Q319*	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN			2	1224	-			319					B9EK62|Q5T1N0|Q8N990|Q8NCN9	Nonsense_Mutation	SNP	ENST00000370001.3	37	c.955C>T	CCDS791.2	.	.	.	.	.	.	.	.	.	.	G	36	5.883425	0.97062	.	.	ENSG00000162641	ENST00000370001;ENST00000369994;ENST00000369995	.	.	.	5.76	-1.7	0.08159	.	0.512432	0.18259	N	0.146705	.	.	.	.	.	.	0.32304	N	0.564682	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.1321	4.2777	0.10816	0.0719:0.3107:0.3465:0.2709	.	.	.	.	X	319	.	ENSP00000359011:Q319X	Q	-	1	0	AKNAD1	109195855	0.001000	0.12720	0.033000	0.17914	0.573000	0.36030	-0.175000	0.09825	0.044000	0.15775	0.563000	0.77884	CAG		PASS	0.413	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030923.2	NM_152763		29	174	29	174	---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113189874	113189874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:113189874G>T	ENST00000263168.3	+	2	754	c.82G>T	c.(82-84)Gaa>Taa	p.E28*	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	28					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)	p.E28*(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCCCAGGGGAATTTAATGA	0.328																																						uc001ecj.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(82-84)GAA>TAA		F-actin capping protein alpha-1 subunit							92.0	100.0	97.0					1																	113189874		2203	4300	6503	SO:0001587	stop_gained	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113189874G>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.82G>T	1.37:g.113189874G>T	ENSP00000263168:p.Glu28*						p.E28*	NM_006135	NP_006126	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	474	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	28					Q53FQ6|Q6FHD5	Nonsense_Mutation	SNP	ENST00000263168.3	37	c.82G>T	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	42	9.450693	0.99174	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-26.1819	19.7564	0.96294	0.0:0.0:1.0:0.0	.	.	.	.	X	28	.	ENSP00000263168:E28X	E	+	1	0	CAPZA1	112991397	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.299000	0.96137	2.835000	0.97688	0.650000	0.86243	GAA		PASS	0.328	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		50	129	50	129	---	---	---	---
NOTCH2	4853	broad.mit.edu	37	1	120510147	120510147	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:120510147C>G	ENST00000256646.2	-	8	1581	c.1362G>C	c.(1360-1362)gaG>gaC	p.E454D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	454	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.E454D(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGATGTCCATCTCACAACGAG	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2				Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1360-1362)GAG>GAC		notch 2 preproprotein							188.0	157.0	168.0					1																	120510147		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510147C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1362G>C	1.37:g.120510147C>G	ENSP00000256646:p.Glu454Asp					NOTCH2_uc001eil.2_Missense_Mutation_p.E454D|NOTCH2_uc001eim.3_Missense_Mutation_p.E371D	p.E454D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1618	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	454			Extracellular (Potential).|EGF-like 11; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1362G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.946631	0.73672	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.91631	-2.88	5.68	4.74	0.60224	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.213333	0.23215	N	0.050633	D	0.89781	0.6814	L	0.39020	1.185	0.58432	D	0.999994	P;D;B	0.54772	0.943;0.968;0.006	D;D;B	0.70935	0.971;0.962;0.042	D	0.89380	0.3681	10	0.45353	T	0.12	.	6.6597	0.23007	0.1498:0.7049:0.0:0.1454	.	415;454;454	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	D	454;415	ENSP00000256646:E454D	ENSP00000256646:E454D	E	-	3	2	NOTCH2	120311670	0.992000	0.36948	1.000000	0.80357	0.993000	0.82548	0.368000	0.20399	1.332000	0.45431	0.650000	0.86243	GAG		PASS	0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		30	118	30	118	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144886112	144886112	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:144886112G>A	ENST00000369354.3	-	23	3311	c.3122C>T	c.(3121-3123)tCa>tTa	p.S1041L	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1178L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1041L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1107L|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1178L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1041					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.S1041L(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)		GTGGGACACTGAGGAGAATCC	0.537			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.(3121-3123)TCA>TTA		phosphodiesterase 4D interacting protein isoform							162.0	138.0	146.0					1																	144886112		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144886112G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3122C>T	1.37:g.144886112G>A	ENSP00000358360:p.Ser1041Leu					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.S1107L|PDE4DIP_uc001elv.3_Missense_Mutation_p.S48L	p.S1041L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	23	3413	-			1041			Potential.		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.3122C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803074	0.70682	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.02345	4.33;4.38;4.38;4.42;4.4	5.73	4.82	0.62117	.	.	.	.	.	T	0.02767	0.0083	L	0.29908	0.895	0.80722	D	1	P;D	0.76494	0.552;0.999	B;D	0.78314	0.111;0.991	T	0.60193	-0.7311	9	0.24483	T	0.36	.	7.5277	0.27664	0.0833:0.0:0.7526:0.164	.	1107;1041	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	L	1107;1041;1041;1178;1178	ENSP00000327209:S1107L;ENSP00000358360:S1041L;ENSP00000358363:S1041L;ENSP00000435654:S1178L;ENSP00000358366:S1178L	ENSP00000327209:S1107L	S	-	2	0	PDE4DIP	143597469	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.522000	0.73783	1.441000	0.47550	0.561000	0.74099	TCA		PASS	0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		7	187	7	187	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150478153	150478153	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:150478153C>T	ENST00000369064.3	+	17	2014	c.1980C>T	c.(1978-1980)gcC>gcT	p.A660A	ECM1_ENST00000369047.4_5'Flank|ECM1_ENST00000369049.4_5'Flank|TARS2_ENST00000606933.1_Silent_p.A578A|TARS2_ENST00000369054.2_Silent_p.A530A|ECM1_ENST00000346569.6_5'Flank	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	660					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.A660A(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCCGCCGGGCCCAGCTTGCCC	0.557																																						uc001euq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1978-1980)GCC>GCT		threonyl-tRNA synthetase 2, mitochondrial	L-Threonine(DB00156)						65.0	68.0	67.0					1																	150478153		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150478153C>T	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1980C>T	1.37:g.150478153C>T						TARS2_uc001eur.2_Silent_p.A578A|TARS2_uc009wlt.2_Silent_p.A286A|TARS2_uc009wls.2_Silent_p.A530A|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank	p.A660A	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		17	1987	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		660					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1980C>T	CCDS952.1																																																																																				PASS	0.557	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		31	119	31	119	---	---	---	---
DCST1	149095	broad.mit.edu	37	1	155019728	155019728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:155019728C>T	ENST00000295542.1	+	14	1648	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	DCST1_ENST00000423025.2_Nonsense_Mutation_p.R493*|RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Nonsense_Mutation_p.R518*|DCST1_ENST00000368419.2_Nonsense_Mutation_p.R518*	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	518						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.R518*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCGGCTTCTTCGAAAAACCAT	0.547																																						uc001fgn.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1552-1554)CGA>TGA		DC-STAMP domain containing 1 isoform 1							86.0	85.0	85.0					1																	155019728		2203	4300	6503	SO:0001587	stop_gained	149095					integral to membrane	zinc ion binding	g.chr1:155019728C>T	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.1552C>T	1.37:g.155019728C>T	ENSP00000295542:p.Arg518*					DCST1_uc010pes.1_Nonsense_Mutation_p.R493*|uc001fgo.2_Intron	p.R518*	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		14	1648	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		518			Extracellular (Potential).		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Nonsense_Mutation	SNP	ENST00000295542.1	37	c.1552C>T	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072568	0.93950	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	.	.	.	4.88	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-36.4692	9.676	0.40041	0.4144:0.5856:0.0:0.0	.	.	.	.	X	518;518;493;518	.	ENSP00000295542:R518X	R	+	1	2	DCST1	153286352	0.990000	0.36364	0.999000	0.59377	0.719000	0.41307	1.827000	0.39102	1.361000	0.45981	-0.274000	0.10170	CGA		PASS	0.547	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		4	109	4	109	---	---	---	---
MTX1	4580	broad.mit.edu	37	1	155180394	155180394	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:155180394G>C	ENST00000368376.3	+	3	760	c.654G>C	c.(652-654)aaG>aaC	p.K218N	RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000541990.1_5'Flank|MTX1_ENST00000609421.1_Missense_Mutation_p.K69N|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000486260.1_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.K218N|THBS3_ENST00000457183.2_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	218					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)		p.K218N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCCACACAAGATCATCACCC	0.478																																						uc001fjb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)AAG>AAC		metaxin 1 isoform 1							178.0	167.0	170.0					1																	155180394		2203	4300	6503	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155180394G>C		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.654G>C	1.37:g.155180394G>C	ENSP00000357360:p.Lys218Asn					RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_5'Flank|THBS3_uc009wqj.1_5'Flank|MTX1_uc001fjc.2_Missense_Mutation_p.K218N	p.K218N	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	760	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		218					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.654G>C	CCDS1100.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.021958|4.021958	0.75275|0.75275	.|.	.|.	ENSG00000173171|ENSG00000173171	ENST00000424959|ENST00000368376;ENST00000316721	.|T;T	.|0.35605	.|1.49;1.3	5.8|5.8	2.69|2.69	0.31865|0.31865	.|.	.|0.374291	.|0.30455	.|N	.|0.009588	T|T	0.18299|0.18299	0.0439|0.0439	L|L	0.27053|0.27053	0.805|0.805	0.45129|0.45129	D|D	0.998146|0.998146	.|P;D	.|0.55172	.|0.921;0.97	.|P;P	.|0.53401	.|0.52;0.725	T|T	0.04961|0.04961	-1.0915|-1.0915	5|10	.|0.52906	.|T	.|0.07	-11.7738|-11.7738	4.332|4.332	0.11067|0.11067	0.276:0.1664:0.5576:0.0|0.276:0.1664:0.5576:0.0	.|.	.|218;218	.|Q13505-2;Q13505	.|.;MTX1_HUMAN	H|N	81|218	.|ENSP00000357360:K218N;ENSP00000317106:K218N	.|ENSP00000317106:K218N	D|K	+|+	1|3	0|2	MTX1|MTX1	153447018|153447018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.255000|2.255000	0.43222|0.43222	0.760000|0.760000	0.33108|0.33108	0.563000|0.563000	0.77884|0.77884	GAT|AAG		PASS	0.478	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		9	215	9	215	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155348296	155348296	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:155348296G>C	ENST00000368346.3	-	9	6875	c.6236C>G	c.(6235-6237)tCa>tGa	p.S2079*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S2074*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2079	Catalytic domain.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S2074*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTACTCACTTGAACGAATTTT	0.338																																						uc009wqq.2																			1	Substitution - Nonsense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(6235-6237)TCA>TGA		absent, small, or homeotic 1-like							62.0	61.0	61.0					1																	155348296		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155348296G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6236C>G	1.37:g.155348296G>C	ENSP00000357330:p.Ser2079*					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Nonsense_Mutation_p.S2074*	p.S2079*	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		9	6716	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2079					Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.6236C>G		.	.	.	.	.	.	.	.	.	.	G	50	17.213870	0.99881	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.8982	0.58111	0.0746:0.0:0.9254:0.0	.	.	.	.	X	2079;2074	.	ENSP00000357330:S2079X	S	-	2	0	ASH1L	153614920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.495000	0.81514	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.338	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		5	109	5	109	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155891183	155891183	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:155891183G>C	ENST00000368321.3	-	10	1272	c.1249C>G	c.(1249-1251)Cca>Gca	p.P417A	KIAA0907_ENST00000482337.1_5'Flank|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S383C|KIAA0907_ENST00000368320.3_Missense_Mutation_p.P417A|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	417	Pro-rich.						RNA binding (GO:0003723)	p.P417A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTGCTAGCTGGAGGCTGCACT	0.478																																						uc001fmi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1249-1251)CCA>GCA		hypothetical protein LOC22889							100.0	95.0	97.0					1																	155891183		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155891183G>C	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1249C>G	1.37:g.155891183G>C	ENSP00000357304:p.Pro417Ala					KIAA0907_uc001fmj.1_Missense_Mutation_p.P417A|KIAA0907_uc009wrk.1_Missense_Mutation_p.P274A|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.S383C	p.P417A	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1273	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		417			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1249C>G	CCDS30885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.975744|3.975744	0.74360|0.74360	.|.	.|.	ENSG00000132680|ENSG00000132680	ENST00000368321;ENST00000368320|ENST00000368319	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.159868|.	0.56097|.	D|.	0.000029|.	T|T	0.50274|0.50274	0.1606|0.1606	N|N	0.24115|0.24115	0.695|0.695	0.34013|0.34013	D|D	0.651738|0.651738	D;D|D	0.76494|0.60160	0.999;0.999|0.987	D;D|P	0.80764|0.59889	0.994;0.994|0.865	T|T	0.56721|0.56721	-0.7932|-0.7932	9|8	0.31617|0.72032	T|D	0.26|0.01	-7.3005|-7.3005	19.8517|19.8517	0.96743|0.96743	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	417;417|383	Q7Z7F0-2;Q7Z7F0|Q7Z7F0-3	.;K0907_HUMAN|.	A|C	417|383	.|.	ENSP00000357303:P417A|ENSP00000357302:S383C	P|S	-|-	1|2	0|0	KIAA0907|KIAA0907	154157807|154157807	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.793000|5.793000	0.69060|0.69060	2.793000|2.793000	0.96121|0.96121	0.561000|0.561000	0.74099|0.74099	CCA|TCC		PASS	0.478	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		3	115	3	115	---	---	---	---
FCRL2	79368	broad.mit.edu	37	1	157738268	157738268	+	Nonsense_Mutation	SNP	A	A	T	rs536322468		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:157738268A>T	ENST00000361516.3	-	5	867	c.819T>A	c.(817-819)taT>taA	p.Y273*	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.Y273*|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	273	Ig-like C2-type 3.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.Y273*(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCTACAGTAATATTTGCCGG	0.493																																						uc001fre.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(817-819)TAT>TAA		Fc receptor-like 2 precursor							179.0	179.0	179.0					1																	157738268		2203	4300	6503	SO:0001587	stop_gained	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157738268A>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.819T>A	1.37:g.157738268A>T	ENSP00000355157:p.Tyr273*					FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Nonsense_Mutation_p.Y273*|FCRL2_uc009wsp.2_Intron	p.Y273*	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	878	-	all_hematologic(112;0.0378)		273			Ig-like C2-type 3.|Extracellular (Potential).		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Nonsense_Mutation	SNP	ENST00000361516.3	37	c.819T>A	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.535361	0.64972	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	.	.	.	3.89	-1.02	0.10135	.	0.000000	0.40728	N	0.001028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.227	0.26020	0.4927:0.0:0.5073:0.0	.	.	.	.	X	273	.	ENSP00000355157:Y273X	Y	-	3	2	FCRL2	156004892	0.002000	0.14202	0.001000	0.08648	0.097000	0.18754	-0.171000	0.09883	-0.313000	0.08728	0.533000	0.62120	TAT		PASS	0.493	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		40	190	40	190	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160385679	160385679	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:160385679C>T	ENST00000368061.2	+	2	526	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	18					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.R18C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCCACTCCCGCAGCTCCCG	0.672																																						uc001fwb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)CGC>TGC		vang-like 2							29.0	31.0	30.0					1																	160385679		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385679C>T	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.52C>T	1.37:g.160385679C>T	ENSP00000357040:p.Arg18Cys					VANGL2_uc001fwc.1_Missense_Mutation_p.R18C	p.R18C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	351	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		18			Cytoplasmic (Potential).		D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.52C>T	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704360	0.30232	.	.	ENSG00000162738	ENST00000368061	D	0.82711	-1.64	4.22	4.22	0.49857	.	0.000000	0.64402	D	0.000001	D	0.85669	0.5750	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.71414	0.973	D	0.87121	0.2191	10	0.87932	D	0	-21.1585	9.3856	0.38340	0.2128:0.7872:0.0:0.0	.	18	Q9ULK5	VANG2_HUMAN	C	18	ENSP00000357040:R18C	ENSP00000357040:R18C	R	+	1	0	VANGL2	158652303	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	2.175000	0.42491	2.182000	0.69389	0.461000	0.40582	CGC		PASS	0.672	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		7	66	7	66	---	---	---	---
CD84	8832	broad.mit.edu	37	1	160523878	160523878	+	Silent	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:160523878A>G	ENST00000311224.4	-	3	513	c.447T>C	c.(445-447)tgT>tgC	p.C149C	CD84_ENST00000368048.3_Silent_p.C149C|CD84_ENST00000534968.1_Silent_p.C35C|CD84_ENST00000368047.3_5'UTR|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Silent_p.C149C|CD84_ENST00000368051.3_Silent_p.C149C	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	149	Ig-like C2-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C149C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTGTGACATTACAGGTGCTGT	0.458																																						uc001fwh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(445-447)TGT>TGC		CD84 molecule							127.0	114.0	118.0					1																	160523878		2203	4300	6503	SO:0001819	synonymous_variant	8832				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	g.chr1:160523878A>G	AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.447T>C	1.37:g.160523878A>G						CD84_uc001fwf.3_Silent_p.C149C|CD84_uc001fwg.3_Silent_p.C149C|CD84_uc009wtn.2_Silent_p.C149C|CD84_uc001fwi.3_Silent_p.C35C|CD84_uc001fwj.2_Silent_p.C149C|CD84_uc001fwk.2_Silent_p.C149C	p.C149C	NM_003874	NP_003865	Q9UIB8	SLAF5_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	471	-	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		149			Extracellular (Potential).|Ig-like C2-type.		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Silent	SNP	ENST00000311224.4	37	c.447T>C	CCDS53396.1																																																																																				PASS	0.458	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874		49	72	49	72	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167847723	167847723	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:167847723G>C	ENST00000367851.4	-	12	1551	c.1367C>G	c.(1366-1368)tCt>tGt	p.S456C	ADCY10_ENST00000545172.1_Missense_Mutation_p.S303C|ADCY10_ENST00000367848.1_Missense_Mutation_p.S364C	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	456					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.S456C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAATGGTCCAGAATCTGCAAC	0.408																																						uc001ger.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1366-1368)TCT>TGT		adenylate cyclase 10							110.0	110.0	110.0					1																	167847723		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167847723G>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1367C>G	1.37:g.167847723G>C	ENSP00000356825:p.Ser456Cys					ADCY10_uc009wvk.2_Missense_Mutation_p.S364C|ADCY10_uc010plj.1_Missense_Mutation_p.S303C|ADCY10_uc009wvl.2_Missense_Mutation_p.S455C	p.S456C	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			12	1665	-			456					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1367C>G	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480927	0.63849	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.33216	1.42;1.42;1.42	5.38	4.47	0.54385	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.281929	0.30901	N	0.008655	T	0.31009	0.0783	L	0.51422	1.61	0.23537	N	0.99747	D;D;D	0.71674	0.998;0.996;0.993	P;P;P	0.61592	0.891;0.855;0.72	T	0.21415	-1.0246	9	0.52906	T	0.07	-7.3822	10.4119	0.44299	0.0907:0.0:0.9093:0.0	.	303;364;456	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	C	303;456;364	ENSP00000441992:S303C;ENSP00000356825:S456C;ENSP00000356822:S364C	ENSP00000356822:S364C	S	-	2	0	ADCY10	166114347	0.097000	0.21791	0.856000	0.33681	0.968000	0.65278	1.818000	0.39012	1.411000	0.46957	-0.140000	0.14226	TCT		PASS	0.408	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		14	124	14	124	---	---	---	---
F5	2153	broad.mit.edu	37	1	169497285	169497285	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:169497285G>C	ENST00000367797.3	-	17	5668	c.5467C>G	c.(5467-5469)Caa>Gaa	p.Q1823E	F5_ENST00000367796.3_Missense_Mutation_p.Q1828E	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1823	F5/8 type A 3.|Plastocyanin-like 6.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Q1823E(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	ACCCACTCTTGCTCATACATT	0.458																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(5467-5469)CAA>GAA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						98.0	94.0	96.0					1																	169497285		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169497285G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5467C>G	1.37:g.169497285G>C	ENSP00000356771:p.Gln1823Glu						p.Q1823E	NM_000130	NP_000121	P12259	FA5_HUMAN			17	5612	-	all_hematologic(923;0.208)		1823			F5/8 type A 3.|Plastocyanin-like 6.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5467C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079687	0.36662	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99737	-6.59;-6.59	4.68	3.66	0.41972	Cupredoxin (2);	0.459407	0.24124	N	0.041323	D	0.96433	0.8836	N	0.20610	0.595	0.24087	N	0.995925	P	0.34546	0.456	B	0.33521	0.165	D	0.97047	0.9761	9	0.21014	T	0.42	-12.7128	8.0099	0.30347	0.0:0.1786:0.584:0.2374	.	1823	P12259	FA5_HUMAN	E	1823;1828	ENSP00000356771:Q1823E;ENSP00000356770:Q1828E	ENSP00000356770:Q1828E	Q	-	1	0	F5	167763909	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	1.796000	0.38794	2.158000	0.67659	0.655000	0.94253	CAA		PASS	0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		4	94	4	94	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176640118	176640118	+	Silent	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:176640118T>C	ENST00000367662.3	+	4	3168	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	PAPPA2_ENST00000367661.3_Silent_p.S668S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	668	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S668S(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATACATGAGTGTGAAGGAGC	0.483																																						uc001gkz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2002-2004)AGT>AGC		pappalysin 2 isoform 1							176.0	174.0	175.0					1																	176640118		1988	4168	6156	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640118T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2004T>C	1.37:g.176640118T>C						PAPPA2_uc001gky.1_Silent_p.S668S|PAPPA2_uc009www.2_RNA	p.S668S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			4	3168	+			668			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2004T>C	CCDS41438.1																																																																																				PASS	0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			115	220	115	220	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193111196	193111196	+	Splice_Site	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:193111196G>T	ENST00000367435.3	+	7	913	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	243	Interaction with CTNNB1.|Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.K243N(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GCACAGGAAAGGTAATTAAAA	0.398																																						uc001gtb.2																			1	Substitution - Missense(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(727-729)AAG>AAT		parafibromin							59.0	57.0	58.0					1																	193111196		2203	4300	6503	SO:0001630	splice_region_variant	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111196G>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.729+1G>T	1.37:g.193111196G>T							p.K243N	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			7	972	+			243					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.729G>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.298321	0.40694	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	T	0.65364	-0.15	5.82	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	M	0.76838	2.35	0.80722	D	1	D	0.54207	0.965	P	0.56916	0.809	T	0.73424	-0.3987	10	0.54805	T	0.06	-13.678	6.9303	0.24437	0.1381:0.0:0.7165:0.1454	.	243	Q6P1J9	CDC73_HUMAN	N	243	ENSP00000356405:K243N	ENSP00000356405:K243N	K	+	3	2	CDC73	191377819	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	6.612000	0.74187	1.444000	0.47605	-0.182000	0.12963	AAG		PASS	0.398	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	Missense_Mutation	6	31	6	31	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200955982	200955982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:200955982G>A	ENST00000422435.2	-	26	3995	c.3679C>T	c.(3679-3681)Cag>Tag	p.Q1227*	KIF21B_ENST00000461742.2_Nonsense_Mutation_p.Q1227*|KIF21B_ENST00000332129.2_Nonsense_Mutation_p.Q1227*|KIF21B_ENST00000360529.5_Nonsense_Mutation_p.Q1227*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1227					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q1227*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTAATGGGCTGCCCTCGGTCG	0.527																																						uc001gvs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)	6						c.(3679-3681)CAG>TAG		kinesin family member 21B							144.0	118.0	127.0					1																	200955982		2203	4300	6503	SO:0001587	stop_gained	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200955982G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3679C>T	1.37:g.200955982G>A	ENSP00000411831:p.Gln1227*					KIF21B_uc001gvr.1_Nonsense_Mutation_p.Q1227*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.Q1227*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.Q1227*	p.Q1227*	NM_017596	NP_060066	O75037	KI21B_HUMAN			26	3996	-			1227					B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	ENST00000422435.2	37	c.3679C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503376	0.96371	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	4.94	4.94	0.65067	.	0.242632	0.35970	N	0.002872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	16.3635	0.83296	0.0:0.0:1.0:0.0	.	.	.	.	X	1227	.	ENSP00000328494:Q1227X	Q	-	1	0	KIF21B	199222605	1.000000	0.71417	0.998000	0.56505	0.680000	0.39746	4.952000	0.63618	2.288000	0.76882	0.650000	0.86243	CAG		PASS	0.527	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		13	67	13	67	---	---	---	---
CYB5R1	51706	broad.mit.edu	37	1	202934595	202934595	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:202934595C>G	ENST00000367249.4	-	5	453	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	127	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)	p.E127Q(1)		breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	TTCCCTCCCTCAGGAAATTTG	0.488																																						uc001gyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(379-381)GAG>CAG		cytochrome b5 reductase 1							142.0	131.0	135.0					1																	202934595		2203	4300	6503	SO:0001583	missense	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202934595C>G	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.379G>C	1.37:g.202934595C>G	ENSP00000356218:p.Glu127Gln					CYB5R1_uc010pqe.1_RNA	p.E127Q	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		5	450	-			127			FAD-binding FR-type.		A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Missense_Mutation	SNP	ENST00000367249.4	37	c.379G>C	CCDS1431.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585276	0.66105	.	.	ENSG00000159348	ENST00000367249	D	0.84873	-1.91	5.93	5.02	0.67125	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);Oxidoreductase, FAD-binding domain (1);	0.237231	0.40469	N	0.001097	D	0.84415	0.5467	M	0.64260	1.97	0.80722	D	1	B	0.18968	0.032	B	0.31614	0.133	T	0.80921	-0.1166	10	0.40728	T	0.16	-7.6389	13.0118	0.58735	0.0:0.9221:0.0:0.0779	.	127	Q9UHQ9	NB5R1_HUMAN	Q	127	ENSP00000356218:E127Q	ENSP00000356218:E127Q	E	-	1	0	CYB5R1	201201218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.603000	0.61105	1.524000	0.49035	0.591000	0.81541	GAG		PASS	0.488	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	NM_016243		6	194	6	194	---	---	---	---
PPFIA4	8497	broad.mit.edu	37	1	203025937	203025937	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:203025937C>A	ENST00000447715.2	+	24	2641	c.2200C>A	c.(2200-2202)Ccc>Acc	p.P734T	PPFIA4_ENST00000599966.1_Missense_Mutation_p.P250T|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P250T|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P463T|PPFIA4_ENST00000367240.2_Missense_Mutation_p.P735T|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P250T			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	734					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.P250T(1)|p.P881T(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						GGGCAGCAACCCCAGCAGCAG	0.562																																						uc001gyz.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(748-750)CCC>ACC		protein tyrosine phosphatase, receptor type, f							23.0	27.0	26.0					1																	203025937		2173	4287	6460	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203025937C>A	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.2200C>A	1.37:g.203025937C>A	ENSP00000402576:p.Pro734Thr					PPFIA4_uc009xaj.2_Missense_Mutation_p.P881T|PPFIA4_uc010pqf.1_Missense_Mutation_p.P463T|PPFIA4_uc001gza.2_Missense_Mutation_p.P250T|PPFIA4_uc001gzb.1_5'UTR	p.P250T	NM_015053	NP_055868	O75335	LIPA4_HUMAN			6	1341	+			250					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.748C>A		.	.	.	.	.	.	.	.	.	.	c	24.5	4.543887	0.86022	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.06	5.06	0.68205	.	0.000000	0.45126	D	0.000387	T	0.50120	0.1597	L	0.41573	1.285	0.52099	D	0.999941	P;B;P;P	0.44380	0.834;0.019;0.696;0.729	P;B;P;B	0.50352	0.638;0.022;0.535;0.334	T	0.26985	-1.0087	10	0.13853	T	0.58	-31.0856	18.6163	0.91304	0.0:1.0:0.0:0.0	.	463;734;250;250	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	T	735;734;250;463;250	ENSP00000356209:P735T;ENSP00000402576:P734T;ENSP00000295706:P250T;ENSP00000400379:P463T;ENSP00000272198:P250T	ENSP00000272198:P250T	P	+	1	0	PPFIA4	201292560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.105000	0.64591	2.628000	0.89032	0.556000	0.70494	CCC		PASS	0.562	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		13	21	13	21	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216074151	216074151	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:216074151G>A	ENST00000307340.3	-	39	7783	c.7397C>T	c.(7396-7398)tCt>tTt	p.S2466F	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.S2466F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2466	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S2466F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATCTGGGAGAGCCAGGAGC	0.507										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(7396-7398)TCT>TTT		usherin isoform B							112.0	109.0	110.0					1																	216074151		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216074151G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7397C>T	1.37:g.216074151G>A	ENSP00000305941:p.Ser2466Phe	HNSCC(13;0.011)					p.S2466F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	39	7784	-			2466			Extracellular (Potential).|Fibronectin type-III 11.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7397C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	g	16.68	3.189329	0.57909	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54866	0.55;0.55	6.03	3.11	0.35812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341023	0.21301	N	0.076820	T	0.53514	0.1801	L	0.44542	1.39	0.21020	N	0.999805	D	0.61080	0.989	P	0.60068	0.868	T	0.36962	-0.9726	10	0.26408	T	0.33	.	5.6693	0.17713	0.2641:0.1373:0.5986:0.0	.	2466	O75445	USH2A_HUMAN	F	2466	ENSP00000305941:S2466F;ENSP00000355910:S2466F	ENSP00000305941:S2466F	S	-	2	0	USH2A	214140774	0.295000	0.24389	1.000000	0.80357	0.993000	0.82548	1.524000	0.35942	0.850000	0.35239	-0.119000	0.15052	TCT		PASS	0.507	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		20	204	20	204	---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218578578	218578578	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:218578578G>A	ENST00000366930.4	+	2	881	c.414G>A	c.(412-414)gaG>gaA	p.E138E	TGFB2_ENST00000366929.4_Silent_p.E166E	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	138					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.E166E(1)|p.E138E(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGCAATGGAGAAGAATGCTT	0.423																																						uc001hlm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(412-414)GAG>GAA		transforming growth factor, beta 2 isoform 2							230.0	221.0	224.0					1																	218578578		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218578578G>A	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.414G>A	1.37:g.218578578G>A						TGFB2_uc001hll.2_Silent_p.E166E|TGFB2_uc001hln.2_Silent_p.E166E|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.E138E	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	2	1067	+			138					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.414G>A	CCDS1521.1																																																																																				PASS	0.423	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		20	413	20	413	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220791715	220791715	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:220791715G>A	ENST00000366917.4	+	8	882	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	MARK1_ENST00000366918.4_Missense_Mutation_p.E184K|MARK1_ENST00000402574.1_Missense_Mutation_p.E71K					MAP/microtubule affinity-regulating kinase 1									p.E206K(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTTTAGTAATGAATTTACAGT	0.383																																						uc001hmn.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(616-618)GAA>AAA		MAP/microtubule affinity-regulating kinase 1							54.0	57.0	56.0					1																	220791715		2203	4300	6503	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220791715G>A	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.616G>A	1.37:g.220791715G>A	ENSP00000355884:p.Glu206Lys					MARK1_uc009xdw.2_Missense_Mutation_p.E206K|MARK1_uc010pun.1_Missense_Mutation_p.E206K|MARK1_uc001hmm.3_Missense_Mutation_p.E184K	p.E206K	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	8	1213	+			206			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.616G>A	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	35	5.483959	0.96307	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.63255	-0.03;-0.03;-0.03	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.105878	0.64402	D	0.000006	T	0.65365	0.2684	N	0.10782	0.045	0.80722	D	1	D;P;D;D	0.89917	0.983;0.808;1.0;0.989	P;P;D;P	0.73708	0.898;0.526;0.981;0.729	T	0.73257	-0.4040	10	0.66056	D	0.02	.	18.9969	0.92817	0.0:0.0:1.0:0.0	.	206;71;206;184	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	K	71;184;206	ENSP00000386017:E71K;ENSP00000355885:E184K;ENSP00000355884:E206K	ENSP00000355884:E206K	E	+	1	0	MARK1	218858338	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.807000	0.99171	2.488000	0.83962	0.650000	0.86243	GAA		PASS	0.383	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			6	158	6	158	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223176858	223176858	+	Missense_Mutation	SNP	G	G	A	rs369580331		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:223176858G>A	ENST00000284476.6	+	8	2283	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	707					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.E707K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AATTTTTTTCGAAAAAGTATT	0.413																																						uc001hnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2119-2121)GAA>AAA		dispatched A		G	LYS/GLU	0,4406		0,0,2203	138.0	139.0	138.0		2119	5.9	0.9	1		138	4,8596	3.7+/-12.6	0,4,4296	no	missense	DISP1	NM_032890.3	56	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	707/1525	223176858	4,13002	2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176858G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2119G>A	1.37:g.223176858G>A	ENSP00000284476:p.Glu707Lys						p.E707K	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2266	+			707					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2119G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487053	0.84854	0.0	4.65E-4	ENSG00000154309	ENST00000284476	D	0.85702	-2.02	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.90659	0.7070	L	0.57536	1.79	0.80722	D	1	D	0.65815	0.995	D	0.65573	0.936	D	0.87598	0.2495	10	0.29301	T	0.29	-34.5508	20.2983	0.98569	0.0:0.0:1.0:0.0	.	707	Q96F81	DISP1_HUMAN	K	707	ENSP00000284476:E707K	ENSP00000284476:E707K	E	+	1	0	DISP1	221243481	1.000000	0.71417	0.859000	0.33776	0.922000	0.55478	9.869000	0.99810	2.802000	0.96397	0.655000	0.94253	GAA		PASS	0.413	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		29	222	29	222	---	---	---	---
ENAH	55740	broad.mit.edu	37	1	225686076	225686076	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:225686076T>A	ENST00000366844.3	-	14	2162	c.1711A>T	c.(1711-1713)Aca>Tca	p.T571S	ENAH_ENST00000366843.2_Missense_Mutation_p.T550S|ENAH_ENST00000284563.6_Missense_Mutation_p.T797S	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	571	EVH2 block C.|EVH2.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)	p.T571S(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTTAGCTTTGTTAATTCTTTT	0.264																																						uc001hpc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1711-1713)ACA>TCA		enabled homolog isoform a							64.0	62.0	63.0					1																	225686076		2202	4292	6494	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225686076T>A	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.1711A>T	1.37:g.225686076T>A	ENSP00000355809:p.Thr571Ser					ENAH_uc001hpd.1_Missense_Mutation_p.T550S|ENAH_uc001hpb.1_Missense_Mutation_p.T190S	p.T571S	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	14	2164	-	Breast(184;0.206)		571			Potential.|EVH2.|EVH2 block C.		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.1711A>T	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	T	3.920	-0.018279	0.07681	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;D	0.87103	-1.0;0.02;-2.21	5.62	0.732	0.18283	VASP tetramerisation (1);	0.222293	0.40554	N	0.001074	T	0.76779	0.4035	N	0.11927	0.2	0.32376	N	0.555209	B;B	0.28324	0.207;0.127	B;B	0.41174	0.19;0.349	T	0.68311	-0.5442	10	0.12430	T	0.62	-7.7902	9.3994	0.38424	0.0:0.2667:0.0:0.7333	.	550;571	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	S	571;550;797;512	ENSP00000355809:T571S;ENSP00000355808:T550S;ENSP00000284563:T797S	ENSP00000284563:T797S	T	-	1	0	ENAH	223752699	1.000000	0.71417	0.579000	0.28588	0.269000	0.26545	1.450000	0.35134	-0.055000	0.13244	-0.605000	0.04089	ACA		PASS	0.264	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		4	66	4	66	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226827342	226827342	+	Silent	SNP	C	C	T	rs535805470		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:226827342C>T	ENST00000272117.3	-	5	2468	c.2469G>A	c.(2467-2469)gtG>gtA	p.V823V	ITPKB_ENST00000429204.1_Silent_p.V823V			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	823					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.V823V(1)|p.V349V(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGTCCCGGTTCACGGTGCCGT	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16580	0.0		0.0	False		,,,				2504	0.0				Colon(84;110 1851 5306 33547)	uc010pvo.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)	5						c.(2467-2469)GTG>GTA		1D-myo-inositol-trisphosphate 3-kinase B							148.0	134.0	138.0					1																	226827342		2203	4300	6503	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226827342C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.2469G>A	1.37:g.226827342C>T							p.V823V	NM_002221	NP_002212	P27987	IP3KB_HUMAN			6	2809	-		Prostate(94;0.0773)	823					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.2469G>A	CCDS1555.1																																																																																				PASS	0.557	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		7	121	7	121	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226923331	226923331	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:226923331G>A	ENST00000272117.3	-	1	1828	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	ITPKB_ENST00000366784.1_Missense_Mutation_p.S610L|ITPKB_ENST00000429204.1_Missense_Mutation_p.S610L			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	610					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.S136L(1)|p.S610L(1)|p.S137del(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTCGTAGGATGAGGAGAAGCC	0.617																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			3	Substitution - Missense(2)|Deletion - In frame(1)	p.S137del(1)	lung(2)|ovary(1)	ovary(4)|central_nervous_system(1)	5						c.(1828-1830)TCA>TTA		1D-myo-inositol-trisphosphate 3-kinase B							87.0	82.0	84.0					1																	226923331		2203	4300	6503	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923331G>A	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1829C>T	1.37:g.226923331G>A	ENSP00000272117:p.Ser610Leu					ITPKB_uc001hqh.2_Missense_Mutation_p.S610L	p.S610L	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	2169	-		Prostate(94;0.0773)	610					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1829C>T	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306863	0.81247	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.53857	1.27;1.27;0.6	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	L	0.27053	0.805	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.67284	-0.5709	10	0.72032	D	0.01	-17.7933	18.9285	0.92554	0.0:0.0:1.0:0.0	.	610	P27987	IP3KB_HUMAN	L	610	ENSP00000272117:S610L;ENSP00000411152:S610L;ENSP00000355748:S610L	ENSP00000272117:S610L	S	-	2	0	ITPKB	224989954	1.000000	0.71417	0.987000	0.45799	0.994000	0.84299	8.181000	0.89696	2.567000	0.86603	0.591000	0.81541	TCA		PASS	0.617	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		5	207	5	207	---	---	---	---
CDC42BPA	8476	broad.mit.edu	37	1	227300016	227300016	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:227300016C>T	ENST00000366769.3	-	14	3289	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	CDC42BPA_ENST00000334218.5_Silent_p.L666L|CDC42BPA_ENST00000366766.2_Silent_p.L666L|CDC42BPA_ENST00000366767.3_Silent_p.L585L|CDC42BPA_ENST00000366764.2_Silent_p.L666L|CDC42BPA_ENST00000366765.3_Silent_p.L666L|CDC42BPA_ENST00000535525.1_Silent_p.L666L	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.L666L(2)|p.L585L(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AAGATACCTTCAGTCCCTCCA	0.393																																						uc001hqr.2																			3	Substitution - coding silent(3)		lung(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1996-1998)CTG>CTA		CDC42-binding protein kinase alpha isoform B							171.0	163.0	166.0					1																	227300016		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227300016C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1998G>A	1.37:g.227300016C>T						CDC42BPA_uc001hqs.2_Silent_p.L585L|CDC42BPA_uc009xes.2_Silent_p.L666L|CDC42BPA_uc010pvs.1_Silent_p.L666L	p.L666L	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			14	2941	-		all_cancers(173;0.156)|Prostate(94;0.0792)	666			Potential.			Silent	SNP	ENST00000366769.3	37	c.1998G>A	CCDS1558.1																																																																																				PASS	0.393	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		7	247	7	247	---	---	---	---
TRIM11	81559	broad.mit.edu	37	1	228594100	228594100	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:228594100C>T	ENST00000284551.6	-	1	441	c.163G>A	c.(163-165)Gag>Aag	p.E55K	RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000493030.2_5'Flank|TRIM11_ENST00000366699.3_Missense_Mutation_p.E55K	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	55					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E55K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TCGCGGCACTCGGGGCACGCG	0.721																																						uc001hss.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(163-165)GAG>AAG		tripartite motif-containing 11							8.0	9.0	9.0					1																	228594100		2134	4217	6351	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228594100C>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.163G>A	1.37:g.228594100C>T	ENSP00000284551:p.Glu55Lys					TRIM11_uc010pvx.1_Missense_Mutation_p.E55K|TRIM11_uc001hst.1_Missense_Mutation_p.E55K	p.E55K	NM_145214	NP_660215	Q96F44	TRI11_HUMAN			1	418	-		Prostate(94;0.0724)	55			RING-type.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.163G>A	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326924	0.81690	.	.	ENSG00000154370	ENST00000284551;ENST00000366699	T;T	0.16743	2.32;2.32	4.73	4.73	0.59995	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.43579	D	0.000555	T	0.29028	0.0721	L	0.43757	1.38	0.29765	N	0.835274	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.993;0.998;0.931	T	0.07328	-1.0778	10	0.05620	T	0.96	.	15.5907	0.76526	0.0:1.0:0.0:0.0	.	55;55;55	Q96F44-3;Q96F44-2;Q96F44	.;.;TRI11_HUMAN	K	55	ENSP00000284551:E55K;ENSP00000355660:E55K	ENSP00000284551:E55K	E	-	1	0	TRIM11	226660723	0.052000	0.20516	1.000000	0.80357	0.978000	0.69477	0.570000	0.23653	2.333000	0.79357	0.491000	0.48974	GAG		PASS	0.721	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		7	9	7	9	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568576	229568576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:229568576G>A	ENST00000366684.3	-	3	283	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ACTA1_ENST00000366683.2_Nonsense_Mutation_p.Q61*	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	61					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.Q61*(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CTCTTGCTCTGAGCCTCGTCG	0.577																																						uc001htm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(181-183)CAG>TAG		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						72.0	71.0	72.0					1																	229568576		2203	4300	6503	SO:0001587	stop_gained	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568576G>A	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.181C>T	1.37:g.229568576G>A	ENSP00000355645:p.Gln61*						p.Q61*	NM_001100	NP_001091	P68133	ACTS_HUMAN			3	286	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	61					P02568|P99020|Q5T8M9	Nonsense_Mutation	SNP	ENST00000366684.3	37	c.181C>T	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	33	5.289722	0.95546	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.5419	0.84395	0.0:0.0:1.0:0.0	.	.	.	.	X	61	.	ENSP00000312351:Q61X	Q	-	1	0	ACTA1	227635199	1.000000	0.71417	0.964000	0.40570	0.988000	0.76386	9.657000	0.98554	2.431000	0.82371	0.655000	0.94253	CAG		PASS	0.577	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		15	138	15	138	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237890482	237890482	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:237890482C>T	ENST00000366574.2	+	76	11138	c.10821C>T	c.(10819-10821)ccC>ccT	p.P3607P	RYR2_ENST00000542537.1_Silent_p.P3591P|RYR2_ENST00000360064.6_Silent_p.P3605P|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3607	Interaction with CALM.				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.P3605P(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)			GGATGGCCCCCTTATATAATC	0.403																																						uc001hyl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10819-10821)CCC>CCT		cardiac muscle ryanodine receptor							80.0	76.0	77.0					1																	237890482		1830	4068	5898	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237890482C>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	ENST00000366574.2:c.10821C>T	1.37:g.237890482C>T						RYR2_uc010pya.1_Silent_p.P3P	p.P3607P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		76	10941	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3607					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.10821C>T	CCDS55691.1																																																																																				PASS	0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		63	65	63	65	---	---	---	---
ZNF496	84838	broad.mit.edu	37	1	247492815	247492815	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:247492815C>G	ENST00000294753.4	-	3	530	c.66G>C	c.(64-66)agG>agC	p.R22S	ZNF496_ENST00000366498.2_Missense_Mutation_p.R22S	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	22					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R22S(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CAGGTGGGCTCCTCATTTTCC	0.647																																						uc001ico.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(64-66)AGG>AGC		zinc finger protein 496							56.0	68.0	64.0					1																	247492815		2203	4300	6503	SO:0001583	missense	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492815C>G	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.66G>C	1.37:g.247492815C>G	ENSP00000294753:p.Arg22Ser					ZNF496_uc009xgv.2_Missense_Mutation_p.R22S|ZNF496_uc001icp.2_Missense_Mutation_p.R22S|ZNF496_uc010pyv.1_Missense_Mutation_p.R22S	p.R22S	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	531	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		22					Q8TBS2	Missense_Mutation	SNP	ENST00000294753.4	37	c.66G>C	CCDS1631.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684335	0.47991	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.06849	3.29;3.25	4.37	3.46	0.39613	.	0.125602	0.35772	N	0.002993	T	0.03827	0.0108	N	0.08118	0	0.30463	N	0.774121	P;P	0.46784	0.884;0.608	B;B	0.39339	0.297;0.109	T	0.26326	-1.0106	9	.	.	.	-28.051	8.241	0.31660	0.0:0.8908:0.0:0.1092	.	22;22	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	S	22	ENSP00000294753:R22S;ENSP00000355454:R22S	.	R	-	3	2	ZNF496	245559438	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.844000	0.39269	1.200000	0.43188	0.561000	0.74099	AGG		PASS	0.647	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		11	185	11	185	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366573	248366573	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:248366573C>T	ENST00000456743.1	+	1	242	c.204C>T	c.(202-204)ctC>ctT	p.L68L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L68L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AACTGTCCCTCATGGACCTCA	0.527																																						uc010pzg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(202-204)CTC>CTT		olfactory receptor, family 2, subfamily M,							325.0	301.0	309.0					1																	248366573		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366573C>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.204C>T	1.37:g.248366573C>T							p.L68L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	204	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		68			Helical; Name=2; (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.204C>T	CCDS31107.1																																																																																				PASS	0.527	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		148	461	148	461	---	---	---	---
OR2T33	391195	broad.mit.edu	37	1	248436832	248436832	+	Silent	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:248436832A>G	ENST00000318021.2	-	1	306	c.285T>C	c.(283-285)tgT>tgC	p.C95C		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C95C(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGCACACCACAGCCAGCGC	0.582																																						uc010pzi.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(283-285)TGT>TGC		olfactory receptor, family 2, subfamily T,							73.0	66.0	68.0					1																	248436832		2203	4295	6498	SO:0001819	synonymous_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436832A>G		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.285T>C	1.37:g.248436832A>G							p.C95C	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	285	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		95			Extracellular (Potential).		B2RNN0	Silent	SNP	ENST00000318021.2	37	c.285T>C	CCDS31109.1																																																																																				PASS	0.582	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		20	287	20	287	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248550988	248550988	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr1:248550988T>C	ENST00000355728.2	+	1	79	c.79T>C	c.(79-81)Ttt>Ctt	p.F27L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F27L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTCAGGATTCTTTTTCGGTGT	0.443																																						uc001iei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(79-81)TTT>CTT		olfactory receptor, family 2, subfamily T,							167.0	156.0	160.0					1																	248550988		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550988T>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.79T>C	1.37:g.248550988T>C	ENSP00000347965:p.Phe27Leu						p.F27L	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	79	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		27			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.79T>C	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.650386	0.00785	.	.	ENSG00000198104	ENST00000355728	T	0.00672	5.89	4.9	2.8	0.32819	.	0.184416	0.26750	N	0.022690	T	0.00300	0.0009	N	0.00465	-1.465	0.22796	N	0.998723	B	0.02656	0.0	B	0.01281	0.0	T	0.45041	-0.9288	10	0.02654	T	1	.	9.6182	0.39706	0.0:0.7206:0.1868:0.0926	.	27	Q8NHC8	OR2T6_HUMAN	L	27	ENSP00000347965:F27L	ENSP00000347965:F27L	F	+	1	0	OR2T6	246617611	0.000000	0.05858	0.955000	0.39395	0.026000	0.11368	-0.119000	0.10676	1.163000	0.42636	-0.255000	0.11280	TTT		PASS	0.443	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		79	85	79	85	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24480961	24480961	+	Splice_Site	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:24480961C>T	ENST00000355123.4	-	23	3127	c.2684G>A	c.(2683-2685)gGa>gAa	p.G895E	ITSN2_ENST00000406921.3_Splice_Site_p.G895E|ITSN2_ENST00000361999.3_Splice_Site_p.G868E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	895					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.G895E(1)|p.G894E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCACTTGTCCCTATGAATA	0.353																																						uc002rfe.2																			2	Substitution - Missense(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(2683-2685)GGA>GAA		intersectin 2 isoform 1							67.0	66.0	66.0					2																	24480961		2203	4300	6503	SO:0001630	splice_region_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24480961C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2683-1G>A	2.37:g.24480961C>T						ITSN2_uc002rff.2_Missense_Mutation_p.G868E|ITSN2_uc002rfg.2_Missense_Mutation_p.G895E|ITSN2_uc002rfh.1_RNA	p.G895E	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			23	2942	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		895					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2684G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.062456	0.36373	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.0	5.0	0.66597	Src homology-3 domain (1);	0.000000	0.34725	U	0.003734	T	0.38852	0.1056	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.16571	-1.0398	10	0.87932	D	0	.	18.6908	0.91582	0.0:1.0:0.0:0.0	.	895;868;895	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	E	868;895;868;895	ENSP00000354561:G868E;ENSP00000347244:G895E;ENSP00000370250:G868E;ENSP00000384499:G895E	ENSP00000347244:G895E	G	-	2	0	ITSN2	24334465	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	5.359000	0.66074	2.477000	0.83638	0.460000	0.39030	GGA		PASS	0.353	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	Missense_Mutation	44	40	44	40	---	---	---	---
ADCY3	109	broad.mit.edu	37	2	25141765	25141765	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:25141765C>G	ENST00000260600.5	-	1	943	c.92G>C	c.(91-93)gGg>gCg	p.G31A		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	31					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.G31A(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGGCCCACCCCGCGGTCAGG	0.652																																						uc002rfs.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(91-93)GGG>GCG		adenylate cyclase 3							18.0	22.0	20.0					2																	25141765		2203	4299	6502	SO:0001583	missense	109				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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25141765C>G	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.92G>C	2.37:g.25141765C>G	ENSP00000260600:p.Gly31Ala					ADCY3_uc010ykm.1_Missense_Mutation_p.G31A	p.G31A	NM_004036	NP_004027	O60266	ADCY3_HUMAN			1	291	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		31			Cytoplasmic (Potential).		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.92G>C	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552801	0.27739	.	.	ENSG00000138031	ENST00000260600;ENST00000435135;ENST00000438445	T;T;T	0.78707	-1.2;-0.87;1.01	4.15	2.22	0.28083	.	0.567601	0.16391	N	0.216461	T	0.58637	0.2136	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.51442	-0.8705	10	0.33141	T	0.24	.	13.3179	0.60417	0.0:0.6602:0.3398:0.0	.	31;31	B7ZLX9;O60266	.;ADCY3_HUMAN	A	31	ENSP00000260600:G31A;ENSP00000389799:G31A;ENSP00000406153:G31A	ENSP00000260600:G31A	G	-	2	0	ADCY3	24995269	0.001000	0.12720	0.905000	0.35620	0.957000	0.61999	0.906000	0.28517	0.893000	0.36288	0.467000	0.42956	GGG		PASS	0.652	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			27	19	27	19	---	---	---	---
CENPA	1058	broad.mit.edu	37	2	27015048	27015048	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:27015048G>C	ENST00000335756.4	+	2	350	c.150G>C	c.(148-150)gaG>gaC	p.E50D	CENPA_ENST00000233505.8_Missense_Mutation_p.E50D|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	50	H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E50D(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTAAAGGAGATCCGAAAGC	0.547																																					Pancreas(28;769 878 30250 30578 41330)	uc002rhr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GAG>GAC		centromere protein A isoform a							77.0	72.0	74.0					2																	27015048		2203	4300	6503	SO:0001583	missense	1058				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	g.chr2:27015048G>C	U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.150G>C	2.37:g.27015048G>C	ENSP00000336868:p.Glu50Asp					CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Missense_Mutation_p.E50D	p.E50D	NM_001809	NP_001800	P49450	CENPA_HUMAN			2	333	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		50			H3-like.		D6W544|Q53T74|Q9BVW2	Missense_Mutation	SNP	ENST00000335756.4	37	c.150G>C	CCDS1729.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299086	0.81025	.	.	ENSG00000115163	ENST00000335756;ENST00000233505	T;T	0.57273	0.41;0.41	5.58	2.78	0.32641	Histone-fold (2);	0.000000	0.85682	D	0.000000	T	0.62073	0.2398	M	0.61703	1.905	0.48511	D	0.99966	D;D	0.65815	0.995;0.991	D;P	0.63703	0.917;0.769	T	0.61797	-0.6989	10	0.87932	D	0	-7.9426	6.4614	0.21958	0.298:0.0:0.702:0.0	.	50;50	P49450-2;P49450	.;CENPA_HUMAN	D	50	ENSP00000336868:E50D;ENSP00000233505:E50D	ENSP00000233505:E50D	E	+	3	2	CENPA	26868552	1.000000	0.71417	0.903000	0.35520	0.897000	0.52465	1.707000	0.37888	0.701000	0.31803	0.650000	0.86243	GAG		PASS	0.547	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809		4	74	4	74	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27481676	27481676	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:27481676C>A	ENST00000233535.4	-	2	574	c.222G>T	c.(220-222)agG>agT	p.R74S	SLC30A3_ENST00000447008.2_Missense_Mutation_p.R69S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	74					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.R74S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATATAGCTGCCTCCGTGCAT	0.602																																						uc002rjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)AGG>AGT		solute carrier family 30 (zinc transporter),							51.0	55.0	54.0					2																	27481676		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27481676C>A	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.222G>T	2.37:g.27481676C>A	ENSP00000233535:p.Arg74Ser					SLC30A3_uc002rjj.2_5'Flank|SLC30A3_uc010ylh.1_Missense_Mutation_p.R69S	p.R74S	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			2	408	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		74			Cytoplasmic (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.222G>T	CCDS1743.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.12|14.12	2.441826|2.441826	0.43326|0.43326	.|.	.|.	ENSG00000115194|ENSG00000115194	ENST00000445870|ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	.|T;T;T;T;T;T;T	.|0.67171	.|-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.14|5.14	4.27|4.27	0.50696|0.50696	.|.	.|0.194119	.|0.52532	.|D	.|0.000062	T|T	0.51007|0.51007	0.1649|0.1649	N|N	0.14661|0.14661	0.345|0.345	0.42232|0.42232	D|D	0.991895|0.991895	.|B;B	.|0.31752	.|0.338;0.228	.|B;B	.|0.34652	.|0.187;0.133	T|T	0.55927|0.55927	-0.8063|-0.8063	5|10	.|0.72032	.|D	.|0.01	-13.2211|-13.2211	11.6607|11.6607	0.51345|0.51345	0.0:0.9126:0.0:0.0874|0.0:0.9126:0.0:0.0874	.|.	.|69;74	.|F5H3B7;Q99726	.|.;ZNT3_HUMAN	S|S	63|74;69;25;61;52;25;25	.|ENSP00000233535:R74S;ENSP00000415226:R69S;ENSP00000414320:R25S;ENSP00000393545:R61S;ENSP00000403959:R52S;ENSP00000403912:R25S;ENSP00000392673:R25S	.|ENSP00000233535:R74S	A|R	-|-	1|3	0|2	SLC30A3|SLC30A3	27335180|27335180	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.320000|0.320000	0.28249|0.28249	3.742000|3.742000	0.55097|0.55097	1.155000|1.155000	0.42497|0.42497	-0.254000|-0.254000	0.11334|0.11334	GCA|AGG		PASS	0.602	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			29	82	29	82	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27657418	27657418	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:27657418G>C	ENST00000233557.3	+	6	1348	c.516G>C	c.(514-516)atG>atC	p.M172I	NRBP1_ENST00000379863.3_Missense_Mutation_p.M172I|NRBP1_ENST00000379852.3_Missense_Mutation_p.M172I			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.M172I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACAAGACGATGAATGAAAAGG	0.408																																						uc002rko.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(514-516)ATG>ATC		nuclear receptor binding protein							116.0	122.0	120.0					2																	27657418		2203	4299	6502	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27657418G>C	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.516G>C	2.37:g.27657418G>C	ENSP00000233557:p.Met172Ile					NRBP1_uc002rkq.2_Missense_Mutation_p.M172I|NRBP1_uc002rkp.2_Missense_Mutation_p.M172I|NRBP1_uc002rkr.2_5'Flank	p.M172I	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			6	1348	+	Acute lymphoblastic leukemia(172;0.155)		172			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.516G>C	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079668	0.36662	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.72725	-0.68;-0.68;-0.68	5.47	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.039285	0.85682	N	0.000000	T	0.59810	0.2221	L	0.31752	0.955	0.52501	D	0.999955	B;B	0.23442	0.069;0.085	B;B	0.24701	0.032;0.055	T	0.54814	-0.8237	10	0.30854	T	0.27	-15.296	14.4041	0.67071	0.0:0.0:0.851:0.149	.	172;172	F8W6G1;Q9UHY1	.;NRBP_HUMAN	I	172;152;172;172	ENSP00000233557:M172I;ENSP00000369181:M172I;ENSP00000369192:M172I	ENSP00000233557:M172I	M	+	3	0	NRBP1	27510922	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	9.242000	0.95408	1.284000	0.44531	0.313000	0.20887	ATG		PASS	0.408	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		15	157	15	157	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32449811	32449811	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:32449811G>A	ENST00000404025.2	-	10	3294	c.2806C>T	c.(2806-2808)Ctg>Ttg	p.L936L	NLRC4_ENST00000360906.5_Silent_p.L936L|NLRC4_ENST00000342905.6_Silent_p.L271L|NLRC4_ENST00000402280.1_Silent_p.L936L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	936					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.L936L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAGTTTTTCAGAGGGTTCTTT	0.338																																						uc002roi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2806-2808)CTG>TTG		caspase recruitment domain protein 12							49.0	51.0	50.0					2																	32449811		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32449811G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2806C>T	2.37:g.32449811G>A						NLRC4_uc002roj.1_Silent_p.L936L|NLRC4_uc010ezt.1_Silent_p.L271L	p.L936L	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			9	3052	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		936			LRR 12.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2806C>T	CCDS33174.1																																																																																				PASS	0.338	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		14	57	14	57	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32734914	32734914	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:32734914G>T	ENST00000421745.2	+	52	10224	c.10090G>T	c.(10090-10092)Gcc>Tcc	p.A3364S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3364					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A3336S(1)|p.A3364S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACTTGTGCGGCCTTATTGAT	0.448																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10090-10092)GCC>TCC		baculoviral IAP repeat-containing 6							220.0	193.0	202.0					2																	32734914		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32734914G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10090G>T	2.37:g.32734914G>T	ENSP00000393596:p.Ala3364Ser						p.A3364S	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			52	10224	+	Acute lymphoblastic leukemia(172;0.155)		3364					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10090G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741478	0.30865	.	.	ENSG00000115760	ENST00000421745	T	0.74526	-0.85	5.67	5.67	0.87782	.	0.117189	0.64402	D	0.000020	T	0.76147	0.3947	N	0.16790	0.44	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.71686	-0.4518	10	0.19590	T	0.45	.	18.3159	0.90221	0.0:0.0:1.0:0.0	.	3364	Q9NR09	BIRC6_HUMAN	S	3364	ENSP00000393596:A3364S	ENSP00000393596:A3364S	A	+	1	0	BIRC6	32588418	1.000000	0.71417	0.998000	0.56505	0.307000	0.27823	9.809000	0.99208	2.833000	0.97629	0.585000	0.79938	GCC		PASS	0.448	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		71	225	71	225	---	---	---	---
VIT	5212	broad.mit.edu	37	2	37002179	37002179	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:37002179C>G	ENST00000389975.3	+	9	1073	c.771C>G	c.(769-771)ttC>ttG	p.F257L	VIT_ENST00000379241.3_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.F257L|VIT_ENST00000379242.3_Missense_Mutation_p.F257L	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	257					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)	p.F257L(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGCTGCCTTCCAGAAACCTG	0.507																																						uc002rpl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(769-771)TTC>TTG		vitrin							77.0	75.0	76.0					2																	37002179		2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37002179C>G	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.771C>G	2.37:g.37002179C>G	ENSP00000374625:p.Phe257Leu					VIT_uc002rpm.2_Missense_Mutation_p.F250L|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Missense_Mutation_p.F250L	p.F257L	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			9	992	+		all_hematologic(82;0.248)	257					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.771C>G	CCDS54347.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.115|7.115	0.576752|0.576752	0.13686|0.13686	.|.	.|.	ENSG00000205221|ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000401530|ENST00000464309	T;T;T|.	0.65549|.	-0.11;-0.13;-0.16|.	5.03|5.03	4.13|4.13	0.48395|0.48395	.|.	0.512588|.	0.20603|.	N|.	0.089106|.	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.40543|0.40543	1.245|1.245	0.30072|0.30072	N|N	0.809975|0.809975	B;B;B|.	0.10296|.	0.0;0.0;0.003|.	B;B;B|.	0.15052|.	0.0;0.001;0.012|.	T|T	0.41288|0.41288	-0.9517|-0.9517	10|5	0.11485|.	T|.	0.65|.	.|.	9.8772|9.8772	0.41211|0.41211	0.0:0.9032:0.0:0.0968|0.0:0.9032:0.0:0.0968	.|.	257;257;257|.	E9PF47;Q6UXI7;Q6UXI7-4|.	.;VITRN_HUMAN;.|.	L|C	257|24	ENSP00000368544:F257L;ENSP00000374625:F257L;ENSP00000385658:F257L|.	ENSP00000368544:F257L|.	F|S	+|+	3|2	2|0	VIT|VIT	36855683|36855683	0.727000|0.727000	0.28069|0.28069	0.995000|0.995000	0.50966|0.50966	0.314000|0.314000	0.28054|0.28054	1.202000|1.202000	0.32271|0.32271	1.063000|1.063000	0.40649|0.40649	0.655000|0.655000	0.94253|0.94253	TTC|TCC		PASS	0.507	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				13	109	13	109	---	---	---	---
PPM1B	5495	broad.mit.edu	37	2	44428720	44428720	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:44428720G>C	ENST00000282412.4	+	2	794	c.382G>C	c.(382-384)Gac>Cac	p.D128H	PPM1B_ENST00000409432.3_Missense_Mutation_p.D128H|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409895.4_Missense_Mutation_p.D128H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000378551.2_Missense_Mutation_p.D128H	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	128					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.D128H(3)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAACGGGATGGACAGGAGTGG	0.393																																						uc002rtt.2																			3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(382-384)GAC>CAC		protein phosphatase 1B isoform 1							141.0	138.0	139.0					2																	44428720		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428720G>C	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.382G>C	2.37:g.44428720G>C	ENSP00000282412:p.Asp128His					PPM1B_uc002rts.2_Missense_Mutation_p.D128H|PPM1B_uc002rtu.2_Missense_Mutation_p.D128H|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.D128H|PPM1B_uc002rtx.2_Missense_Mutation_p.D128H	p.D128H	NM_002706	NP_002697	O75688	PPM1B_HUMAN			2	810	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	128					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.382G>C	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379546	0.82682	.	.	ENSG00000138032	ENST00000419807;ENST00000409895;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000409473	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.71	5.71	0.89125	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	M	0.89030	3	0.80722	D	1	D;P;D;D;D	0.89917	1.0;0.954;1.0;1.0;0.999	D;P;D;D;D	0.85130	0.985;0.54;0.997;0.981;0.976	T	0.59161	-0.7506	10	0.87932	D	0	-21.0501	19.8632	0.96793	0.0:0.0:1.0:0.0	.	128;128;128;128;128	Q4J6C0;O75688-2;Q4J6C1;O75688;Q4J6C2	.;.;.;PPM1B_HUMAN;.	H	128	ENSP00000390087:D128H;ENSP00000387341:D128H;ENSP00000387287:D128H;ENSP00000282412:D128H;ENSP00000367813:D128H;ENSP00000386982:D128H	ENSP00000282412:D128H	D	+	1	0	PPM1B	44282224	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.865000	0.99609	2.699000	0.92147	0.655000	0.94253	GAC		PASS	0.393	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		9	120	9	120	---	---	---	---
MTIF2	4528	broad.mit.edu	37	2	55490959	55490959	+	Silent	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:55490959T>A	ENST00000263629.4	-	4	351	c.36A>T	c.(34-36)ctA>ctT	p.L12L	MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Silent_p.L12L|MTIF2_ENST00000394600.3_Silent_p.L12L	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	12					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L12L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TGTGAAATCGTAGCAAGTTCT	0.373																																						uc002ryn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(34-36)CTA>CTT		mitochondrial translational initiation factor 2							194.0	186.0	188.0					2																	55490959		2203	4300	6503	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55490959T>A	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.36A>T	2.37:g.55490959T>A						MTIF2_uc010yox.1_5'UTR|MTIF2_uc002ryo.2_Silent_p.L12L|MTIF2_uc002ryp.1_RNA	p.L12L	NM_001005369	NP_001005369	P46199	IF2M_HUMAN			5	773	-			12					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.36A>T	CCDS1853.1																																																																																				PASS	0.373	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		47	216	47	216	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58275961	58275961	+	Splice_Site	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:58275961G>C	ENST00000435505.2	+	5	740		c.e5-1		VRK2_ENST00000417641.2_Splice_Site|VRK2_ENST00000340157.4_Splice_Site|VRK2_ENST00000412104.2_Splice_Site|VRK2_ENST00000440705.2_Intron			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2						cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TCTGCCAACAGAAGTGATGCC	0.383																																						uc002rzo.2																			0				ovary(1)	1						c.e5-1		vaccinia related kinase 2 isoform 2							49.0	51.0	50.0					2																	58275961		2203	4300	6503	SO:0001630	splice_region_variant	7444					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:58275961G>C	AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.-5-1G>C	2.37:g.58275961G>C						VRK2_uc010fcb.2_Splice_Site|VRK2_uc002rzs.2_Splice_Site|VRK2_uc002rzr.2_Splice_Site|VRK2_uc010fcc.2_Splice_Site|VRK2_uc002rzv.2_Splice_Site|VRK2_uc010fcd.2_Intron|VRK2_uc002rzp.2_Splice_Site|VRK2_uc010ypg.1_Splice_Site|VRK2_uc002rzq.2_Splice_Site|VRK2_uc002rzu.2_Splice_Site|VRK2_uc002rzt.2_Splice_Site		NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN			5	741	+								B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Splice_Site	SNP	ENST00000435505.2	37	c.-4_splice	CCDS1859.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066108	0.76187	.	.	ENSG00000028116	ENST00000428021	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5813	0.91172	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VRK2	58129465	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.622000	0.54217	2.826000	0.97356	0.655000	0.94253	.		PASS	0.383	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325304.2	NM_006296	Intron	4	67	4	67	---	---	---	---
KIAA1841	84542	broad.mit.edu	37	2	61297594	61297594	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:61297594G>A	ENST00000402291.1	+	3	350	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	KIAA1841_ENST00000453873.1_Missense_Mutation_p.E37K|KIAA1841_ENST00000356719.2_Missense_Mutation_p.E37K|KIAA1841_ENST00000295031.5_Missense_Mutation_p.E37K|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	37								p.E37K(2)		breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TATCAACTGGGAAACTATAGC	0.368																																						uc002saw.3																			2	Substitution - Missense(2)		lung(2)		0						c.(109-111)GAA>AAA		KIAA1841 protein isoform a							99.0	103.0	102.0					2																	61297594		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61297594G>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.109G>A	2.37:g.61297594G>A	ENSP00000385579:p.Glu37Lys					KIAA1841_uc002sax.3_5'UTR|KIAA1841_uc002say.2_Missense_Mutation_p.E37K|KIAA1841_uc002sav.3_Missense_Mutation_p.E37K	p.E37K	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		3	412	+			37					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.109G>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293945	0.81025	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.95	5.08	0.68730	.	0.047652	0.85682	D	0.000000	T	0.39200	0.1069	L	0.27053	0.805	0.47659	D	0.999483	P;P;P	0.49559	0.925;0.877;0.925	P;B;B	0.47162	0.54;0.257;0.443	T	0.36432	-0.9748	10	0.72032	D	0.01	-26.8479	15.1228	0.72457	0.0674:0.0:0.9326:0.0	.	37;37;37	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	K	37	ENSP00000385579:E37K;ENSP00000295031:E37K;ENSP00000349154:E37K;ENSP00000416795:E37K	ENSP00000295031:E37K	E	+	1	0	KIAA1841	61151098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.958000	0.93099	1.534000	0.49203	0.655000	0.94253	GAA		PASS	0.368	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		31	117	31	117	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64113547	64113547	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:64113547G>C	ENST00000337130.5	+	7	1422	c.946G>C	c.(946-948)Gac>Cac	p.D316H	UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000445915.2_Missense_Mutation_p.D325H|UGP2_ENST00000467648.2_Missense_Mutation_p.D305H|UGP2_ENST00000394417.2_Missense_Mutation_p.D305H	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	316					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.D316H(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AGCACATGTAGACGAGTTCAA	0.408																																						uc002scm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)GAC>CAC		UDP-glucose pyrophosphorylase 2 isoform a							163.0	163.0	163.0					2																	64113547		2203	4300	6503	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64113547G>C		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.946G>C	2.37:g.64113547G>C	ENSP00000338703:p.Asp316His					UGP2_uc002scl.2_Missense_Mutation_p.D305H|UGP2_uc010ypx.1_Missense_Mutation_p.D325H	p.D316H	NM_006759	NP_006750	Q16851	UGPA_HUMAN			7	1252	+			316					Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.946G>C	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139796	0.94560	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	6.07	6.07	0.98685	.	0.085745	0.85682	D	0.000000	T	0.48132	0.1483	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.972	T	0.27468	-1.0073	10	0.59425	D	0.04	-12.8458	20.6593	0.99626	0.0:0.0:1.0:0.0	.	325;316	E7EUC7;Q16851	.;UGPA_HUMAN	H	305;305;316;325	ENSP00000377939:D305H;ENSP00000420793:D305H;ENSP00000338703:D316H;ENSP00000411803:D325H	ENSP00000338703:D316H	D	+	1	0	UGP2	63967051	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.845000	0.99498	2.885000	0.99019	0.655000	0.94253	GAC		PASS	0.408	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		7	219	7	219	---	---	---	---
SERTAD2	9792	broad.mit.edu	37	2	64863520	64863520	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:64863520G>C	ENST00000313349.3	-	2	783	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SERTAD2_ENST00000476805.2_5'Flank	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	162					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.L162L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTCTGGCAAGAGGGCTGGAG	0.617																																						uc002sde.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(484-486)CTC>CTG		SERTA domain containing 2							67.0	67.0	67.0					2																	64863520		2203	4300	6503	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863520G>C	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.486C>G	2.37:g.64863520G>C							p.L162L	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			2	783	-			162					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.486C>G	CCDS33210.1																																																																																				PASS	0.617	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		9	108	9	108	---	---	---	---
NAGK	55577	broad.mit.edu	37	2	71305464	71305464	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:71305464G>A	ENST00000244204.6	+	10	923	c.861G>A	c.(859-861)ctG>ctA	p.L287L	NAGK_ENST00000455662.2_Silent_p.L333L|NAGK_ENST00000443938.2_Silent_p.L283L|NAGK_ENST00000443872.2_Silent_p.L139L|NAGK_ENST00000418807.3_Silent_p.L236L			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	287					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.L287L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TTCTGGCGCTGACCCAGGGCA	0.582																																						uc002shp.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(859-861)CTG>CTA		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						95.0	78.0	84.0					2																	71305464		2203	4300	6503	SO:0001819	synonymous_variant	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305464G>A	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.861G>A	2.37:g.71305464G>A						NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Silent_p.L138L|NAGK_uc002shr.2_Silent_p.L236L	p.L287L	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			10	1267	+			287					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Silent	SNP	ENST00000244204.6	37	c.861G>A		.	.	.	.	.	.	.	.	.	.	G	6.654	0.489103	0.12641	.	.	ENSG00000124357	ENST00000524537	.	.	.	4.82	3.9	0.45041	.	.	.	.	.	T	0.63988	0.2558	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62234	-0.6897	4	.	.	.	-9.6342	12.9689	0.58501	0.0:0.1629:0.8371:0.0	.	.	.	.	N	52	.	.	D	+	1	0	NAGK	71158972	1.000000	0.71417	0.982000	0.44146	0.723000	0.41478	2.746000	0.47467	2.494000	0.84150	0.563000	0.77884	GAC		PASS	0.582	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			11	63	11	63	---	---	---	---
SPR	6697	broad.mit.edu	37	2	73115537	73115537	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:73115537C>T	ENST00000234454.5	+	2	472	c.399C>T	c.(397-399)tgC>tgT	p.C133C	SPR_ENST00000498749.1_Intron	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	133					cell morphogenesis involved in neuron differentiation (GO:0048667)|death (GO:0016265)|dopamine metabolic process (GO:0042417)|L-phenylalanine metabolic process (GO:0006558)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|norepinephrine metabolic process (GO:0042415)|oxidation-reduction process (GO:0055114)|pteridine metabolic process (GO:0019889)|regulation of multicellular organism growth (GO:0040014)|regulation of nitric-oxide synthase activity (GO:0050999)|serotonin metabolic process (GO:0042428)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldo-keto reductase (NADP) activity (GO:0004033)|NADP binding (GO:0050661)|sepiapterin reductase activity (GO:0004757)	p.C133C(1)		lung(4)|ovary(2)	6						CCATGCTCTGCCTGACTTCCA	0.547											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(397-399)TGC>TGT		sepiapterin reductase							175.0	152.0	160.0					2																	73115537		2203	4300	6503	SO:0001819	synonymous_variant	6697				nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity	g.chr2:73115537C>T		CCDS1920.1	2p14-p12	2013-06-03			ENSG00000116096	ENSG00000116096	1.1.1.153	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	11257	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 38C, member 1"""	182125				1883349, 19027726	Standard	NM_003124		Approved	SDR38C1	uc002sik.2	P35270	OTTHUMG00000129777	ENST00000234454.5:c.399C>T	2.37:g.73115537C>T			OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1142		p.C133C	NM_003124	NP_003115	P35270	SPRE_HUMAN			2	449	+			133					A8K741|D6W5H2|Q53GI9|Q9UBB1	Silent	SNP	ENST00000234454.5	37	c.399C>T	CCDS1920.1																																																																																				PASS	0.547	SPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251993.2			47	82	47	82	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73829327	73829327	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:73829327C>G	ENST00000264448.6	+	20	12238	c.12127C>G	c.(12127-12129)Cac>Gac	p.H4043D	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.H4001D	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4043	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.H4043D(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GCTTCAGTTTCACAGACCTGA	0.483																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(12133-12135)CAC>GAC		Alstrom syndrome 1							34.0	37.0	36.0					2																	73829327		2200	4300	6500	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73829327C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12127C>G	2.37:g.73829327C>G	ENSP00000264448:p.His4043Asp					ALMS1_uc002sjf.1_Missense_Mutation_p.H4001D|ALMS1_uc002sjh.1_Missense_Mutation_p.H3431D	p.H4045D	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			22	12244	+			4043					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12133C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746138	0.69418	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07021	3.23;3.23	5.38	4.47	0.54385	.	0.064990	0.64402	D	0.000017	T	0.20981	0.0505	L	0.46157	1.445	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.72982	0.974;0.979	T	0.00063	-1.2154	10	0.72032	D	0.01	.	13.3579	0.60638	0.1575:0.8425:0.0:0.0	.	4001;4043	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	D	4001;4043	ENSP00000386627:H4001D;ENSP00000264448:H4043D	ENSP00000264448:H4043D	H	+	1	0	ALMS1	73682835	0.998000	0.40836	0.996000	0.52242	0.877000	0.50540	1.945000	0.40273	2.793000	0.96121	0.655000	0.94253	CAC		PASS	0.483	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		10	39	10	39	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74901714	74901714	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:74901714G>T	ENST00000357877.2	+	8	1061	c.912G>T	c.(910-912)cgG>cgT	p.R304R	SEMA4F_ENST00000339773.5_Silent_p.R149R	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	304	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.R304R(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AGCATGGCCGGGCCTCCAGTG	0.602																																						uc002sna.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(910-912)CGG>CGT		semaphorin W precursor							114.0	112.0	113.0					2																	74901714		2203	4300	6503	SO:0001819	synonymous_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74901714G>T	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.912G>T	2.37:g.74901714G>T						SEMA4F_uc010ffq.1_Silent_p.R271R|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Silent_p.R149R	p.R304R	NM_004263	NP_004254	O95754	SEM4F_HUMAN			8	1023	+			304			Sema.|Extracellular (Potential).		Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	c.912G>T	CCDS1955.1																																																																																				PASS	0.602	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		78	79	78	79	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746836	77746836	+	Silent	SNP	T	T	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:77746836T>G	ENST00000409093.1	-	3	495	c.159A>C	c.(157-159)gcA>gcC	p.A53A	LRRTM4_ENST00000409884.1_Silent_p.A53A|LRRTM4_ENST00000409282.1_Silent_p.A54A|LRRTM4_ENST00000409088.3_Silent_p.A53A|LRRTM4_ENST00000409911.1_Silent_p.A54A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	53	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.A53A(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAGGGATATCTGCGAAAGCAT	0.468																																						uc002snr.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(157-159)GCA>GCC		leucine rich repeat transmembrane neuronal 4							118.0	113.0	114.0					2																	77746836		1970	4153	6123	SO:0001819	synonymous_variant	80059					integral to membrane		g.chr2:77746836T>G	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.159A>C	2.37:g.77746836T>G						LRRTM4_uc002snq.2_Silent_p.A53A|LRRTM4_uc002sns.2_Silent_p.A53A|LRRTM4_uc002snt.2_Silent_p.A54A	p.A53A	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	574	-			53			Extracellular (Potential).|LRRNT.		Q4FZ98|Q6UXJ7	Silent	SNP	ENST00000409093.1	37	c.159A>C	CCDS46346.1																																																																																				PASS	0.468	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		58	51	58	51	---	---	---	---
REG1B	5968	broad.mit.edu	37	2	79312344	79312344	+	Nonstop_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:79312344A>T	ENST00000305089.3	-	6	579	c.499T>A	c.(499-501)Tag>Aag	p.*167K		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	0					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.*167K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGCTTCCTCTAGTTTTTGAAC	0.378																																						uc002sny.2																			1	Nonstop extension(1)	p.*167*(1)	lung(1)	central_nervous_system(1)|skin(1)	2						c.(499-501)TAG>AAG		regenerating islet-derived 1 beta precursor							132.0	127.0	129.0					2																	79312344		2203	4300	6503	SO:0001578	stop_lost	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312344A>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.499T>A	2.37:g.79312344A>T							p.*167K	NM_006507	NP_006498	P48304	REG1B_HUMAN			6	611	-			167						Nonstop_Mutation	SNP	ENST00000305089.3	37	c.499T>A	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	a	12.25	1.880241	0.33162	.	.	ENSG00000172023	ENST00000305089	.	.	.	3.47	3.47	0.39725	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5054	0.33184	1.0:0.0:0.0:0.0	.	.	.	.	K	167	.	.	X	-	1	0	REG1B	79165852	0.335000	0.24748	0.116000	0.21606	0.512000	0.34134	1.405000	0.34635	1.565000	0.49641	0.397000	0.26171	TAG		PASS	0.378	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		15	63	15	63	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385464	79385464	+	Silent	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:79385464A>G	ENST00000409839.3	-	4	357	c.321T>C	c.(319-321)caT>caC	p.H107H	REG3A_ENST00000393878.1_Silent_p.H107H|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Silent_p.H107H	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.H107H(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTGTGGGGTCATGGAGCCCAA	0.572																																						uc002sod.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(319-321)CAT>CAC		pancreatitis-associated protein precursor							129.0	103.0	112.0					2																	79385464		2203	4300	6503	SO:0001819	synonymous_variant	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385464A>G	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.321T>C	2.37:g.79385464A>G						REG3A_uc002soe.1_Silent_p.H107H|REG3A_uc002sof.1_Silent_p.H107H	p.H107H	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	576	-			107			C-type lectin.			Silent	SNP	ENST00000409839.3	37	c.321T>C	CCDS1965.1																																																																																				PASS	0.572	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		29	36	29	36	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80816495	80816495	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:80816495C>G	ENST00000402739.4	+	14	2079	c.2074C>G	c.(2074-2076)Caa>Gaa	p.Q692E	CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q726E|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q692E|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q692E|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q692E|AC008067.2_ENST00000596887.1_RNA|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q692E|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q371E	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	692					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.Q692E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GATATTCCATCAAGAGAAAAG	0.488																																						uc010ysh.1																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2074-2076)CAA>GAA		catenin, alpha 2 isoform 1							106.0	116.0	113.0					2																	80816495		2195	4299	6494	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816495C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2074C>G	2.37:g.80816495C>G	ENSP00000384638:p.Gln692Glu					CTNNA2_uc010yse.1_Missense_Mutation_p.Q692E|CTNNA2_uc010ysf.1_Missense_Mutation_p.Q692E|CTNNA2_uc010ysg.1_Missense_Mutation_p.Q692E|CTNNA2_uc010ysi.1_Missense_Mutation_p.Q324E|CTNNA2_uc010ysj.1_Missense_Mutation_p.Q21E	p.Q692E	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2079	+			692					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2074C>G		.	.	.	.	.	.	.	.	.	.	C	3.095	-0.186098	0.06340	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.97	5.1	0.69264	.	0.059167	0.64402	D	0.000002	T	0.14270	0.0345	N	0.01168	-0.975	0.50171	D	0.999855	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.10989	-1.0606	9	.	.	.	.	15.1654	0.72821	0.0:0.9328:0.0:0.0672	.	324;692;692;692	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	E	692;692;726;692;692;692;371	ENSP00000418191:Q692E;ENSP00000419295:Q692E;ENSP00000355398:Q726E;ENSP00000384638:Q692E;ENSP00000444675:Q692E;ENSP00000441705:Q692E;ENSP00000341500:Q371E	.	Q	+	1	0	CTNNA2	80670006	0.930000	0.31532	1.000000	0.80357	0.997000	0.91878	1.414000	0.34736	1.544000	0.49359	0.655000	0.94253	CAA		PASS	0.488	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		12	61	12	61	---	---	---	---
TGOLN2	10618	broad.mit.edu	37	2	85554352	85554352	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:85554352G>A	ENST00000409232.3	-	2	564	c.503C>T	c.(502-504)tCa>tTa	p.S168L	TGOLN2_ENST00000409015.1_Missense_Mutation_p.S168L|TGOLN2_ENST00000444342.2_Missense_Mutation_p.S168L|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Missense_Mutation_p.S168L|TGOLN2_ENST00000377386.3_Missense_Mutation_p.S168L			O43493	TGON2_HUMAN	trans-golgi network protein 2	168	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.S168L(1)									CTCCGAACCTGACTTGCTAGG	0.607																																						uc010fgd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)TCA>TTA		trans-golgi network protein 2							310.0	313.0	312.0					2																	85554352		1958	4147	6105	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554352G>A	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.503C>T	2.37:g.85554352G>A	ENSP00000386443:p.Ser168Leu					TGOLN2_uc002soz.2_Missense_Mutation_p.S168L|TGOLN2_uc002spa.2_RNA|TGOLN2_uc002spb.2_Missense_Mutation_p.S168L|TGOLN2_uc002spc.1_Missense_Mutation_p.S168L	p.S168L	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	792	-			168			Extracellular (Potential).|14 X 14 AA tandem repeats.|9.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.503C>T	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391852	0.42410	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.14640	2.75;2.49;2.77;2.75;2.72	3.29	1.39	0.22231	.	.	.	.	.	T	0.19927	0.0479	L	0.59436	1.845	0.21802	N	0.999534	B;B;D;B	0.61697	0.22;0.22;0.99;0.089	B;B;P;B	0.57324	0.047;0.047;0.818;0.047	T	0.13469	-1.0508	9	0.29301	T	0.29	3.7769	1.9878	0.03440	0.1195:0.2001:0.4753:0.205	.	168;168;168;168	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	L	168	ENSP00000366603:S168L;ENSP00000381312:S168L;ENSP00000386443:S168L;ENSP00000387035:S168L;ENSP00000391190:S168L	ENSP00000366603:S168L	S	-	2	0	TGOLN2	85407863	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.242000	0.18087	0.214000	0.20742	0.397000	0.26171	TCA		PASS	0.607	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		90	397	90	397	---	---	---	---
ST3GAL5	8869	broad.mit.edu	37	2	86090519	86090519	+	Nonsense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:86090519T>A	ENST00000377332.3	-	2	280	c.172A>T	c.(172-174)Aga>Tga	p.R58*	ST3GAL5_ENST00000393808.3_Nonsense_Mutation_p.R35*|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000525834.2_Nonsense_Mutation_p.R58*|ST3GAL5_ENST00000393805.1_Nonsense_Mutation_p.R30*	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	58					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.R35*(1)|p.R58*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CTGGGCCTTCTCATCTTGCTT	0.483																																						uc002sqq.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(172-174)AGA>TGA		ST3 beta-galactoside alpha-2,3-sialyltransferase							145.0	132.0	136.0					2																	86090519		2203	4300	6503	SO:0001587	stop_gained	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86090519T>A	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.172A>T	2.37:g.86090519T>A	ENSP00000366549:p.Arg58*					ST3GAL5_uc010ysy.1_Nonsense_Mutation_p.R58*|ST3GAL5_uc010ysz.1_Nonsense_Mutation_p.R58*|ST3GAL5_uc010fgq.1_5'Flank|ST3GAL5_uc002sqp.1_Nonsense_Mutation_p.R35*	p.R58*	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN			2	301	-			58			Cytoplasmic (Potential).		B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Nonsense_Mutation	SNP	ENST00000377332.3	37	c.172A>T	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.917681	0.92249	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	.	.	.	5.53	3.08	0.35506	.	0.538297	0.20921	N	0.083268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.4067	10.0466	0.42190	0.0:0.0:0.3274:0.6726	.	.	.	.	X	35;30;58;30;58	.	ENSP00000306247:R58X	R	-	1	2	ST3GAL5	85944030	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	0.902000	0.28459	0.434000	0.26340	0.528000	0.53228	AGA		PASS	0.483	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		34	63	34	63	---	---	---	---
POU3F3	5455	broad.mit.edu	37	2	105473021	105473021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:105473021C>A	ENST00000361360.2	+	1	1053	c.1053C>A	c.(1051-1053)taC>taA	p.Y351*	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	351	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y351*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCACACTCTACGGCAACGTGT	0.622																																						uc010ywg.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1051-1053)TAC>TAA		POU class 3 homeobox 3							90.0	80.0	83.0					2																	105473021		2203	4300	6503	SO:0001587	stop_gained	5455				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105473021C>A		CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.1053C>A	2.37:g.105473021C>A	ENSP00000355001:p.Tyr351*						p.Y351*	NM_006236	NP_006227	P20264	PO3F3_HUMAN			1	1053	+			351			POU-specific.		P78379|Q4ZG25	Nonsense_Mutation	SNP	ENST00000361360.2	37	c.1053C>A	CCDS33265.1	.	.	.	.	.	.	.	.	.	.	C	36	5.769358	0.96914	.	.	ENSG00000198914	ENST00000361360	.	.	.	3.73	2.82	0.32997	.	0.000000	0.64402	U	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7623	0.23548	0.0:0.7646:0.0:0.2354	.	.	.	.	X	351	.	ENSP00000355001:Y351X	Y	+	3	2	POU3F3	104839453	0.997000	0.39634	1.000000	0.80357	0.964000	0.63967	0.498000	0.22530	0.663000	0.31027	0.393000	0.25936	TAC		PASS	0.622	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2			39	57	39	57	---	---	---	---
TGFBRAP1	9392	broad.mit.edu	37	2	105915078	105915078	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:105915078G>A	ENST00000393359.2	-	3	1199	c.773C>T	c.(772-774)cCa>cTa	p.P258L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P258L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	258	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.P258L(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TATGACGTATGGAAAGGACAC	0.537																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	uc002tcq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(772-774)CCA>CTA		transforming growth factor, beta receptor							92.0	84.0	86.0					2																	105915078		2203	4300	6503	SO:0001583	missense	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105915078G>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.773C>T	2.37:g.105915078G>A	ENSP00000377027:p.Pro258Leu					TGFBRAP1_uc010fjc.2_Missense_Mutation_p.P28L|TGFBRAP1_uc002tcr.3_Missense_Mutation_p.P258L	p.P258L	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN			3	857	-			258			CNH.		A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	c.773C>T	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206370	0.79127	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.07908	3.15;3.15	5.8	5.8	0.92144	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.33731	0.0873	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.02081	-1.1217	10	0.87932	D	0	-34.6347	20.063	0.97692	0.0:0.0:1.0:0.0	.	258	Q8WUH2	TGFA1_HUMAN	L	258	ENSP00000377027:P258L;ENSP00000258449:P258L	ENSP00000258449:P258L	P	-	2	0	TGFBRAP1	105281510	1.000000	0.71417	0.434000	0.26772	0.108000	0.19459	9.605000	0.98321	2.735000	0.93741	0.655000	0.94253	CCA		PASS	0.537	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		8	88	8	88	---	---	---	---
SULT1C2	6819	broad.mit.edu	37	2	108921111	108921111	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:108921111C>A	ENST00000437390.2	+	5	676	c.499C>A	c.(499-501)Cct>Act	p.P167T	SULT1C2_ENST00000409880.1_Missense_Mutation_p.P116T|SULT1C2_ENST00000326853.5_Missense_Mutation_p.P164T|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P153T			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	159					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P153T(1)|p.P164T(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTCCTGACCCTGGTACCTG	0.453																																						uc002tdy.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(457-459)CCT>ACT		sulfotransferase family, cytosolic, 1C, member 1							163.0	149.0	154.0					2																	108921111		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108921111C>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.499C>A	2.37:g.108921111C>A	ENSP00000399651:p.Pro167Thr					SULT1C2_uc010ywp.1_Missense_Mutation_p.P68T|SULT1C2_uc002tdx.2_Missense_Mutation_p.P164T|SULT1C2_uc010ywq.1_Missense_Mutation_p.P167T	p.P153T	NM_001056	NP_001047	O00338	ST1C2_HUMAN			5	910	+			153					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.457C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.72|19.72	3.880909|3.880909	0.72294|0.72294	.|.	.|.	ENSG00000198203|ENSG00000198203	ENST00000409067|ENST00000251481;ENST00000326853;ENST00000409880;ENST00000437390	.|D;D;D;D	.|0.82984	.|-1.67;-1.67;-1.67;-1.67	4.67|4.67	3.78|3.78	0.43462|0.43462	.|Sulfotransferase domain (1);	0.088458|0.088458	0.47852|0.47852	D|D	0.000202|0.000202	D|D	0.90528|0.90528	0.7032|0.7032	M|M	0.79926|0.79926	2.475|2.475	0.52501|0.52501	D|D	0.999957|0.999957	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.80764	.|0.994;0.991;0.989;0.99	D|D	0.91387|0.91387	0.5132|0.5132	6|10	.|0.56958	.|D	.|0.05	.|.	14.2851|14.2851	0.66240|0.66240	0.0:0.8501:0.1499:0.0|0.0:0.8501:0.1499:0.0	.|.	.|167;68;153;164	.|B4DLP0;B4DPE8;O00338;O00338-2	.|.;.;ST1C2_HUMAN;.	H|T	149|153;164;116;167	.|ENSP00000251481:P153T;ENSP00000319622:P164T;ENSP00000387054:P116T;ENSP00000399651:P167T	.|ENSP00000251481:P153T	P|P	+|+	2|1	0|0	SULT1C2|SULT1C2	108287543|108287543	0.920000|0.920000	0.31207|0.31207	0.987000|0.987000	0.45799|0.45799	0.852000|0.852000	0.48524|0.48524	2.668000|2.668000	0.46816|0.46816	1.296000|1.296000	0.44742|0.44742	-0.176000|-0.176000	0.13171|0.13171	CCC|CCT		PASS	0.453	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		31	126	31	126	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109380371	109380371	+	Missense_Mutation	SNP	C	C	T	rs370285906		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:109380371C>T	ENST00000283195.6	+	20	3502	c.3376C>T	c.(3376-3378)Cgg>Tgg	p.R1126W		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1126					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R1126W(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTCTGGTTTTCGGCGAAGTGA	0.403																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(3376-3378)CGG>TGG		RAN binding protein 2		C	TRP/ARG	0,4406		0,0,2203	64.0	68.0	67.0		3376	2.8	0.8	2		67	1,8589		0,1,4294	no	missense	RANBP2	NM_006267.4	101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1126/3225	109380371	1,12995	2203	4295	6498	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380371C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3376C>T	2.37:g.109380371C>T	ENSP00000283195:p.Arg1126Trp						p.R1126W	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	3502	+			1126					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3376C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	9.766	1.171465	0.21621	0.0	1.16E-4	ENSG00000153201	ENST00000283195	T	0.27402	1.67	5.62	2.78	0.32641	.	.	.	.	.	T	0.23370	0.0565	L	0.44542	1.39	0.32181	N	0.580302	D	0.62365	0.991	B	0.40410	0.328	T	0.34750	-0.9816	9	0.72032	D	0.01	-0.667	6.9628	0.24608	0.0:0.4822:0.3333:0.1845	.	1126	P49792	RBP2_HUMAN	W	1126	ENSP00000283195:R1126W	ENSP00000283195:R1126W	R	+	1	2	RANBP2	108746803	0.990000	0.36364	0.779000	0.31741	0.266000	0.26442	0.874000	0.28065	0.731000	0.32448	0.557000	0.71058	CGG		PASS	0.403	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		17	100	17	100	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109383184	109383184	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:109383184C>G	ENST00000283195.6	+	20	6315	c.6189C>G	c.(6187-6189)ctC>ctG	p.L2063L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2063	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L2063L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TAAAAATTCTCAAAAACGAGG	0.388																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6187-6189)CTC>CTG		RAN binding protein 2							150.0	176.0	167.0					2																	109383184		2200	4286	6486	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383184C>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6189C>G	2.37:g.109383184C>G							p.L2063L	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	6315	+			2063			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.6189C>G	CCDS2079.1																																																																																				PASS	0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		139	316	139	316	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136873426	136873426	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:136873426C>T	ENST00000241393.3	-	2	176	c.72G>A	c.(70-72)atG>atA	p.M24I	CXCR4_ENST00000409817.1_Missense_Mutation_p.M28I|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	24					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.M28I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	AGGGTTCCTTCATGGAGTCAT	0.428																																						uc002tuz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(70-72)ATG>ATA		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						88.0	92.0	91.0					2																	136873426		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873426C>T	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.72G>A	2.37:g.136873426C>T	ENSP00000241393:p.Met24Ile					CXCR4_uc002tuy.2_Missense_Mutation_p.M28I|CXCR4_uc010fnk.2_Missense_Mutation_p.M9I	p.M24I	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	167	-			24			Extracellular.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.72G>A	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.958352	0.00465	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.58358	0.34;0.34	5.15	-10.3	0.00346	CXC chemokine receptor, type 4, N-terminal (1);	1.299170	0.04829	N	0.438420	T	0.24967	0.0606	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06826	-1.0805	10	0.21540	T	0.41	.	3.8404	0.08912	0.2059:0.2841:0.4057:0.1043	.	24;28	P61073;P61073-2	CXCR4_HUMAN;.	I	28;24	ENSP00000386884:M28I;ENSP00000241393:M24I	ENSP00000241393:M24I	M	-	3	0	CXCR4	136589896	0.000000	0.05858	0.004000	0.12327	0.695000	0.40330	-5.159000	0.00146	-2.247000	0.00703	-1.057000	0.02308	ATG		PASS	0.428	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			37	97	37	97	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141032120	141032120	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:141032120C>A	ENST00000389484.3	-	85	13986	c.13015G>T	c.(13015-13017)Gat>Tat	p.D4339Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4339	EGF-like 20. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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.D4339Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCCATCATCCCCAATGGTA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(13015-13017)GAT>TAT		low density lipoprotein-related protein 1B							150.0	119.0	130.0					2																	141032120		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141032120C>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.13015G>T	2.37:g.141032120C>A	ENSP00000374135:p.Asp4339Tyr	TSP Lung(27;0.18)					p.D4339Y	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)	85	13987	-		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)	4339			Extracellular (Potential).|EGF-like 13.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13015G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560368	0.45590	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90444	-2.67	5.36	4.47	0.54385	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.197491	0.43416	U	0.000564	T	0.79167	0.4400	N	0.08118	0	0.29197	N	0.875451	P	0.38922	0.651	B	0.33890	0.172	T	0.76427	-0.2963	10	0.59425	D	0.04	.	11.4688	0.50254	0.0:0.9148:0.0:0.0852	.	4339	Q9NZR2	LRP1B_HUMAN	Y	4339;4277	ENSP00000374135:D4339Y	ENSP00000374135:D4339Y	D	-	1	0	LRP1B	140748590	0.977000	0.34250	0.995000	0.50966	0.992000	0.81027	1.931000	0.40134	1.221000	0.43506	0.655000	0.94253	GAT		PASS	0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	67	13	67	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141272243	141272243	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:141272243C>G	ENST00000389484.3	-	51	9219	c.8248G>C	c.(8248-8250)Gat>Cat	p.D2750H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2750	LDL-receptor class A 16. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.D2750H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACTTTCATCTAACCCATCC	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(8248-8250)GAT>CAT		low density lipoprotein-related protein 1B							157.0	146.0	150.0					2																	141272243		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141272243C>G	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.8248G>C	2.37:g.141272243C>G	ENSP00000374135:p.Asp2750His	TSP Lung(27;0.18)					p.D2750H	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)	51	9220	-		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)	2750			Extracellular (Potential).|LDL-receptor class A 16.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8248G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559181	0.86335	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99150	-5.49	5.53	5.53	0.82687	.	0.000000	0.85682	U	0.000000	D	0.99594	0.9853	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97917	1.0312	10	0.87932	D	0	.	19.8158	0.96568	0.0:1.0:0.0:0.0	.	2750	Q9NZR2	LRP1B_HUMAN	H	2750;2688	ENSP00000374135:D2750H	ENSP00000374135:D2750H	D	-	1	0	LRP1B	140988713	1.000000	0.71417	0.997000	0.53966	0.785000	0.44390	7.399000	0.79935	2.749000	0.94314	0.655000	0.94253	GAT		PASS	0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		21	54	21	54	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152544034	152544035	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:152544034_152544035TC>AT	ENST00000172853.10	-	27	2682_2683	c.2535_2536GA>AT	c.(2533-2538)aaGAaa>aaATaa	p.K846*	NEB_ENST00000409198.1_Nonsense_Mutation_p.K846*|NEB_ENST00000427231.2_Nonsense_Mutation_p.K846*|NEB_ENST00000397345.3_Nonsense_Mutation_p.K846*|NEB_ENST00000603639.1_Nonsense_Mutation_p.K846*|NEB_ENST00000604864.1_Nonsense_Mutation_p.K846*			P20929	NEBU_HUMAN	nebulin	846					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.K846*(4)|p.K845K(2)		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)		TCATAGTCTTTCTTGTACATCA	0.505																																						uc010fnx.2																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(2536-2538)AAA>TAA|c.(2533-2535)AAG>AAA		nebulin isoform 3																																				SO:0001587	stop_gained	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.chr2:152544034T>A|g.chr2:152544035C>T	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.2535_2536delinsAT	2.37:g.152544034_152544035delinsAT	ENSP00000172853:p.Lys846*						p.K846*|p.K845K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	27	2727|2726	-			846|845			Nebulin 19.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Nonsense_Mutation|Silent	SNP	ENST00000172853.10	37	c.2536A>T|c.2535G>A																																																																																					PASS	0.505	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9|10	149|146	9	146	---	---	---	---
CYBRD1	79901	broad.mit.edu	37	2	172398276	172398276	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:172398276G>C	ENST00000321348.4	+	2	573	c.375G>C	c.(373-375)ctG>ctC	p.L125L	CYBRD1_ENST00000468308.1_3'UTR|CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Silent_p.L67L	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	125	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)	p.L125L(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGGTTGGACTGATAGCTGTCA	0.363																																						uc002ugy.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)CTG>CTC		cytochrome b reductase 1 isoform 1							144.0	128.0	134.0					2																	172398276		2203	4300	6503	SO:0001819	synonymous_variant	79901				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr2:172398276G>C	AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.375G>C	2.37:g.172398276G>C						CYBRD1_uc002ugz.3_Intron	p.L125L	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN			2	565	+			125			Helical; Name=4; (Potential).|Cytochrome b561.		B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Silent	SNP	ENST00000321348.4	37	c.375G>C	CCDS2244.1																																																																																				PASS	0.363	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255344.2	NM_024843		14	83	14	83	---	---	---	---
PDE11A	50940	broad.mit.edu	37	2	178936577	178936577	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:178936577C>T	ENST00000286063.6	-	1	905	c.588G>A	c.(586-588)ctG>ctA	p.L196L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	196					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)	p.L196L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TATGCTTTTTCAGATGGCACT	0.498									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(586-588)CTG>CTA		phosphodiesterase 11A isoform 4							109.0	99.0	103.0					2																	178936577		2203	4300	6503	SO:0001819	synonymous_variant	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936577C>T	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.588G>A	2.37:g.178936577C>T						PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.L196L	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	906	-			196					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Silent	SNP	ENST00000286063.6	37	c.588G>A	CCDS33334.1																																																																																				PASS	0.498	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2			31	92	31	92	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425922	179425922	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:179425922C>G	ENST00000591111.1	-	276	80238	c.80014G>C	c.(80014-80016)Gaa>Caa	p.E26672Q	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28313Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19373Q|TTN_ENST00000342992.6_Missense_Mutation_p.E25745Q|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19440Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19248Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26672	Fibronectin type-III 94. {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.E25743Q(1)|p.E25745Q(1)|p.E19248Q(1)|p.E19440Q(1)|p.E19373Q(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)			TCAGTTACTTCAAAGTATGTT	0.428																																						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.(77233-77235)GAA>CAA		titin isoform N2-A							81.0	75.0	77.0					2																	179425922		1914	4118	6032	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425922C>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.80014G>C	2.37:g.179425922C>G	ENSP00000465570:p.Glu26672Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E19440Q|TTN_uc010zfi.1_Missense_Mutation_p.E19373Q|TTN_uc010zfj.1_Missense_Mutation_p.E19248Q	p.E25745Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	77457	-			26672					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.77233G>C		.	.	.	.	.	.	.	.	.	.	C	14.36	2.511950	0.44660	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52224	0.1721	L	0.28694	0.88	0.52099	D	0.999941	P;P;P;P	0.47191	0.891;0.891;0.891;0.891	P;P;P;P	0.46419	0.516;0.516;0.516;0.516	T	0.55528	-0.8127	9	0.87932	D	0	.	20.1386	0.98045	0.0:1.0:0.0:0.0	.	19248;19373;19440;26672	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	25745;19248;19440;19373;19246	ENSP00000343764:E25745Q;ENSP00000434586:E19248Q;ENSP00000340554:E19440Q;ENSP00000352154:E19373Q	ENSP00000340554:E19440Q	E	-	1	0	TTN	179134168	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.978000	0.63799	2.767000	0.95098	0.561000	0.74099	GAA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	73	9	73	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179477509	179477509	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:179477509C>G	ENST00000591111.1	-	215	45240	c.45016G>C	c.(45016-45018)Gag>Cag	p.E15006Q	TTN_ENST00000589042.1_Missense_Mutation_p.E16647Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7707Q|TTN_ENST00000342992.6_Missense_Mutation_p.E14079Q|TTN_ENST00000342175.6_Missense_Mutation_p.E7774Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7582Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15006	Fibronectin type-III 8. {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.E14079Q(2)|p.E7774Q(1)|p.E7582Q(1)|p.E7707Q(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)			CATAGCTTCTCCCGGCAAAGC	0.423																																						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.(42235-42237)GAG>CAG		titin isoform N2-A							29.0	27.0	28.0					2																	179477509		1909	4148	6057	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477509C>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.45016G>C	2.37:g.179477509C>G	ENSP00000465570:p.Glu15006Gln					uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E7774Q|TTN_uc010zfi.1_Missense_Mutation_p.E7707Q|TTN_uc010zfj.1_Missense_Mutation_p.E7582Q	p.E14079Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		214	42459	-			15006					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.42235G>C		.	.	.	.	.	.	.	.	.	.	C	12.11	1.840868	0.32513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.71	4.84	0.62591	Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52273	0.1724	M	0.72479	2.2	0.50039	D	0.999842	P;P;P;P	0.52316	0.952;0.952;0.952;0.952	P;P;P;P	0.44422	0.449;0.449;0.449;0.449	T	0.60994	-0.7152	9	0.87932	D	0	.	14.6505	0.68794	0.0:0.9303:0.0:0.0697	.	7582;7707;7774;15006	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14079;7582;7774;7707;7582	ENSP00000343764:E14079Q;ENSP00000434586:E7582Q;ENSP00000340554:E7774Q;ENSP00000352154:E7707Q	ENSP00000340554:E7774Q	E	-	1	0	TTN	179185754	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.662000	0.83803	1.425000	0.47237	0.563000	0.77884	GAG		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	35	7	35	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179591986	179591986	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:179591986G>T	ENST00000591111.1	-	67	19379	c.19155C>A	c.(19153-19155)ttC>ttA	p.F6385L	TTN_ENST00000589042.1_Missense_Mutation_p.F6702L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.F5458L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13156	Ig-like 45.				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.F5458L(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)			GTTCATTTCGGAACCACACAA	0.423																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(16372-16374)TTC>TTA		titin isoform N2-A							79.0	74.0	75.0					2																	179591986		1899	4106	6005	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591986G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19155C>A	2.37:g.179591986G>T	ENSP00000465570:p.Phe6385Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F2119L	p.F5458L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		66	16598	-			6385					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.16374C>A		.	.	.	.	.	.	.	.	.	.	G	3.933	-0.015837	0.07681	.	.	ENSG00000155657	ENST00000342992	T	0.41400	1.0	6.17	-0.546	0.11840	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.29491	0.0735	L	0.37750	1.13	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.09574	-1.0668	9	0.87932	D	0	.	7.7769	0.29043	0.3141:0.0:0.584:0.1019	.	6385	Q8WZ42	TITIN_HUMAN	L	5458	ENSP00000343764:F5458L	ENSP00000343764:F5458L	F	-	3	2	TTN	179300231	1.000000	0.71417	0.986000	0.45419	0.017000	0.09413	2.906000	0.48735	-0.036000	0.13669	-0.899000	0.02877	TTC		PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	46	21	46	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179604792	179604792	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:179604792C>G	ENST00000591111.1	-	46	12441	c.12217G>C	c.(12217-12219)Gag>Cag	p.E4073Q	TTN_ENST00000589042.1_Missense_Mutation_p.E4390Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4152Q|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E4219Q|TTN_ENST00000460472.2_Missense_Mutation_p.E4027Q|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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.E4152Q(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)			AATCTCTGCTCTTCTGGAATA	0.468																																						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.(12655-12657)GAG>CAG		titin isoform novex-2							52.0	52.0	52.0					2																	179604792		1838	4091	5929	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604792C>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.12217G>C	2.37:g.179604792C>G	ENSP00000465570:p.Glu4073Gln					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4152Q|TTN_uc010zfj.1_Missense_Mutation_p.E4027Q|TTN_uc002umz.1_Intron	p.E4219Q	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12879	-			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.12655G>C		.	.	.	.	.	.	.	.	.	.	C	4.296	0.054258	0.08291	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61040	0.2;0.14;0.14	5.7	3.86	0.44501	.	.	.	.	.	T	0.40670	0.1126	N	0.17082	0.46	0.19300	N	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.34004	-0.9846	9	0.87932	D	0	.	8.4806	0.33040	0.0:0.629:0.2141:0.1569	.	4027;4152;4219	D3DPF9;E7EQE6;E7ET18	.;.;.	Q	4027;4219;4152;4027	ENSP00000434586:E4027Q;ENSP00000340554:E4219Q;ENSP00000352154:E4152Q	ENSP00000340554:E4219Q	E	-	1	0	TTN	179313037	0.740000	0.28207	0.837000	0.33122	0.133000	0.20885	0.317000	0.19487	1.413000	0.46997	0.655000	0.94253	GAG		PASS	0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	61	26	61	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189922123	189922123	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:189922123C>T	ENST00000374866.3	-	34	2534	c.2260G>A	c.(2260-2262)Gat>Aat	p.D754N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	754					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.D754N(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGGCCTGTATCTCCAGGGGTC	0.423																																						uc002uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2260-2262)GAT>AAT		alpha 2 type V collagen preproprotein							65.0	67.0	67.0					2																	189922123		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189922123C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2260G>A	2.37:g.189922123C>T	ENSP00000364000:p.Asp754Asn					COL5A2_uc010frx.2_Missense_Mutation_p.D330N	p.D754N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		34	2535	-			754					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2260G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.888240	0.72524	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94232	-3.38	5.92	5.92	0.95590	.	0.000000	0.52532	D	0.000067	D	0.88047	0.6332	N	0.16790	0.44	0.58432	D	0.999999	B;B	0.19200	0.012;0.034	B;B	0.14023	0.006;0.01	T	0.82388	-0.0482	9	.	.	.	.	20.3151	0.98650	0.0:1.0:0.0:0.0	.	394;754	Q5PR22;P05997	.;CO5A2_HUMAN	N	754;394	ENSP00000364000:D754N	.	D	-	1	0	COL5A2	189630368	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.052000	0.71080	2.809000	0.96659	0.467000	0.42956	GAT		PASS	0.423	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		6	93	6	93	---	---	---	---
ANKAR	150709	broad.mit.edu	37	2	190569858	190569858	+	Silent	SNP	G	G	A	rs145408486	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:190569858G>A	ENST00000520309.1	+	8	1906	c.1818G>A	c.(1816-1818)ccG>ccA	p.P606P	ANKAR_ENST00000438402.2_Silent_p.P606P|ANKAR_ENST00000313581.4_Silent_p.P606P|ANKAR_ENST00000431575.2_Silent_p.P535P|ANKAR_ENST00000281412.6_Silent_p.P370P	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	606						integral component of membrane (GO:0016021)		p.P606P(1)|p.P535P(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GCTGGATGCCGATTCACTTTG	0.443													G|||	4	0.000798722	0.0023	0.0	5008	,	,		15611	0.0		0.001	False		,,,				2504	0.0					uc002uqw.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1603-1605)CCG>CCA		ankyrin and armadillo repeat containing		G		4,4402	8.1+/-20.4	0,4,2199	168.0	157.0	160.0		1818	-11.0	0.2	2	dbSNP_134	160	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ANKAR	NM_144708.3		0,9,6494	AA,AG,GG		0.0581,0.0908,0.0692		606/1435	190569858	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190569858G>A	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1818G>A	2.37:g.190569858G>A						ANKAR_uc002uqu.2_RNA	p.P535P	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		7	1605	+			606			ANK 3.		Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.1605G>A	CCDS33351.2																																																																																				PASS	0.443	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		40	79	40	79	---	---	---	---
FAM126B	285172	broad.mit.edu	37	2	201846388	201846388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:201846388G>A	ENST00000418596.3	-	12	1385	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	400						intracellular (GO:0005622)		p.R400*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ACTGAATCTCGAGGGCTCTCA	0.483																																						uc002uws.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1198-1200)CGA>TGA		hypothetical protein LOC285172							107.0	106.0	106.0					2																	201846388		2203	4300	6503	SO:0001587	stop_gained	285172					intracellular		g.chr2:201846388G>A	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.1198C>T	2.37:g.201846388G>A	ENSP00000393667:p.Arg400*					FAM126B_uc002uwu.2_Nonsense_Mutation_p.R374*|FAM126B_uc002uwv.2_Nonsense_Mutation_p.R400*	p.R400*	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			12	1386	-			400					B2RCG7|Q4ZG87|Q53TX6	Nonsense_Mutation	SNP	ENST00000418596.3	37	c.1198C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331300	0.95733	.	.	ENSG00000155744	ENST00000418596	.	.	.	5.76	4.89	0.63831	.	0.628982	0.15721	N	0.247909	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3086	14.6441	0.68748	0.0696:0.0:0.9304:0.0	.	.	.	.	X	400	.	ENSP00000393667:R400X	R	-	1	2	FAM126B	201554633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.682000	0.37628	1.442000	0.47568	0.655000	0.94253	CGA		PASS	0.483	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		9	64	9	64	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202611303	202611303	+	Missense_Mutation	SNP	G	G	C	rs560107386		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:202611303G>C	ENST00000264276.6	-	9	2356	c.1984C>G	c.(1984-1986)Ctc>Gtc	p.L662V	ALS2_ENST00000457679.2_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	662					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.L662V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTACAGGAGAGAAGTACTGGA	0.418																																						uc002uyo.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(1984-1986)CTC>GTC		alsin isoform 1							179.0	172.0	174.0					2																	202611303		1872	4102	5974	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202611303G>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1984C>G	2.37:g.202611303G>C	ENSP00000264276:p.Leu662Val					ALS2_uc002uyp.3_Missense_Mutation_p.L662V|ALS2_uc002uyq.2_Missense_Mutation_p.L662V|ALS2_uc010ftl.2_5'Flank	p.L662V	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			9	2340	-			662					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.1984C>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185884	0.38609	.	.	ENSG00000003393	ENST00000264276	T	0.76839	-1.05	5.52	4.58	0.56647	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (1);	0.481828	0.20525	N	0.090631	T	0.65407	0.2688	L	0.34521	1.04	0.80722	D	1	B;B;B	0.24618	0.01;0.052;0.107	B;B;B	0.23018	0.009;0.043;0.037	T	0.58831	-0.7567	10	0.21540	T	0.41	.	11.094	0.48132	0.0:0.1368:0.7217:0.1415	.	662;662;662	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	V	662	ENSP00000264276:L662V	ENSP00000264276:L662V	L	-	1	0	ALS2	202319548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.901000	0.48695	2.758000	0.94735	0.557000	0.71058	CTC		PASS	0.418	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		40	225	40	225	---	---	---	---
ADAM23	8745	broad.mit.edu	37	2	207412171	207412171	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:207412171C>A	ENST00000264377.3	+	7	1067	c.739C>A	c.(739-741)Cat>Aat	p.H247N	ADAM23_ENST00000374416.1_Missense_Mutation_p.H247N|ADAM23_ENST00000374415.3_Missense_Mutation_p.H247N	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	247					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.H247N(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)		AGGTCGACCACATATAATCCA	0.343																																					Melanoma(194;1127 2130 19620 24042 27855)	uc002vbq.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(739-741)CAT>AAT		ADAM metallopeptidase domain 23 preproprotein							87.0	86.0	86.0					2																	207412171		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207412171C>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.739C>A	2.37:g.207412171C>A	ENSP00000264377:p.His247Asn					ADAM23_uc010ziv.1_RNA	p.H247N	NM_003812	NP_003803	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	7	962	+			247					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.739C>A	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146126	0.77888	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.12147	2.71;2.71;2.71	5.62	5.62	0.85841	Peptidase M12B, propeptide (1);	0.000000	0.52532	D	0.000070	T	0.42899	0.1223	M	0.89534	3.04	0.80722	D	1	P	0.41569	0.755	P	0.56916	0.809	T	0.40059	-0.9583	10	0.87932	D	0	.	15.5144	0.75812	0.0:1.0:0.0:0.0	.	247	O75077	ADA23_HUMAN	N	247;247;141;247	ENSP00000264377:H247N;ENSP00000363537:H247N;ENSP00000363536:H247N	ENSP00000264377:H247N	H	+	1	0	ADAM23	207120416	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.175000	0.58263	2.809000	0.96659	0.655000	0.94253	CAT		PASS	0.343	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		4	52	4	52	---	---	---	---
CRYGD	1421	broad.mit.edu	37	2	208986547	208986547	+	Missense_Mutation	SNP	G	G	T	rs529629277	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:208986547G>T	ENST00000264376.4	-	3	402	c.375C>A	c.(373-375)aaC>aaA	p.N125K		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	125	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.N125K(1)		breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CCTCCAGCACGTTGAGGGAGT	0.572													g|||	3	0.000599042	0.0	0.0	5008	,	,		16218	0.0		0.0	False		,,,				2504	0.0031					uc002vcn.3																			1	Substitution - Missense(1)		lung(1)		0						c.(373-375)AAC>AAA		crystallin, gamma D							112.0	106.0	108.0					2																	208986547		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986547G>T		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.375C>A	2.37:g.208986547G>T	ENSP00000264376:p.Asn125Lys						p.N125K	NM_006891	NP_008822	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	491	-			125			Beta/gamma crystallin 'Greek key' 3.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.375C>A	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	g	12.81	2.049370	0.36181	.	.	ENSG00000118231	ENST00000264376	T	0.72725	-0.68	4.25	-6.48	0.01896	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.154637	0.56097	D	0.000038	T	0.63581	0.2523	L	0.35288	1.05	0.27499	N	0.952038	D	0.53619	0.961	P	0.56563	0.801	T	0.64537	-0.6384	10	0.14656	T	0.56	.	14.2549	0.66045	0.7983:0.0:0.2017:0.0	.	125	P07320	CRGD_HUMAN	K	125	ENSP00000264376:N125K	ENSP00000264376:N125K	N	-	3	2	CRYGD	208694792	0.000000	0.05858	0.038000	0.18304	0.922000	0.55478	-2.852000	0.00731	-1.425000	0.01997	-0.941000	0.02677	AAC		PASS	0.572	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		28	84	28	84	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210545504	210545504	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:210545504C>G	ENST00000360351.4	+	6	913	c.407C>G	c.(406-408)tCt>tGt	p.S136C	MAP2_ENST00000361559.4_Missense_Mutation_p.S136C|MAP2_ENST00000392194.1_Missense_Mutation_p.S136C|MAP2_ENST00000447185.1_Missense_Mutation_p.S136C|MAP2_ENST00000199940.6_Missense_Mutation_p.S136C	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	136					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.S136C(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTGCCTCCTTCTCCACCCCCA	0.418																																					Pancreas(27;423 979 28787 29963)	uc002vde.1																			2	Substitution - Missense(2)		lung(2)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(406-408)TCT>TGT		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						225.0	228.0	227.0					2																	210545504		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210545504C>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.407C>G	2.37:g.210545504C>G	ENSP00000353508:p.Ser136Cys					MAP2_uc002vdc.1_Missense_Mutation_p.S136C|MAP2_uc002vdd.1_Missense_Mutation_p.S136C|MAP2_uc002vdf.1_Missense_Mutation_p.S136C|MAP2_uc002vdg.1_Missense_Mutation_p.S136C|MAP2_uc002vdh.1_Missense_Mutation_p.S136C|MAP2_uc002vdi.1_Missense_Mutation_p.S136C	p.S136C	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	6	655	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	136					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.407C>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626380	0.87560	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000025	T	0.41190	0.1148	N	0.24115	0.695	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;0.999	D;D;D;D;D;D	0.91635	0.999;0.995;0.987;0.99;0.998;0.924	T	0.32693	-0.9897	10	0.72032	D	0.01	-16.5134	20.0371	0.97565	0.0:1.0:0.0:0.0	.	136;136;137;136;136;136	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	C	136;136;136;136;136;136;62	ENSP00000199940:S136C;ENSP00000353508:S136C;ENSP00000355290:S136C;ENSP00000409969:S136C;ENSP00000376032:S136C;ENSP00000392164:S136C;ENSP00000388824:S62C	ENSP00000199940:S136C	S	+	2	0	MAP2	210253749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.429000	0.73387	2.734000	0.93682	0.655000	0.94253	TCT		PASS	0.418	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		47	227	47	227	---	---	---	---
PTPRN	5798	broad.mit.edu	37	2	220162692	220162692	+	Missense_Mutation	SNP	C	C	T	rs369674897		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:220162692C>T	ENST00000295718.2	-	13	2042	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	PTPRN_ENST00000423636.2_Missense_Mutation_p.R511Q|PTPRN_ENST00000497977.1_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.R572Q|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	601					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.R601Q(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)		CGCATGCTGCCGCACACACAG	0.667																																						uc002vkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1801-1803)CGG>CAG		protein tyrosine phosphatase, receptor type, N		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	37.0	37.0	37.0		1715,1532,1802	4.8	1.0	2		37	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	PTPRN	NM_001199763.1,NM_001199764.1,NM_002846.3	43,43,43	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	572/951,511/890,601/980	220162692	1,13003	2203	4299	6502	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162692C>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.1802G>A	2.37:g.220162692C>T	ENSP00000295718:p.Arg601Gln					PTPRN_uc010zlc.1_Missense_Mutation_p.R511Q|PTPRN_uc002vla.2_Missense_Mutation_p.R572Q	p.R601Q	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)	13	1891	-		Renal(207;0.0474)	601			Cytoplasmic (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1802G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	36	5.605805	0.96626	0.0	1.16E-4	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.05996	3.67;3.37;3.36	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000002	T	0.27098	0.0664	M	0.78049	2.395	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.76071	0.978;0.987	T	0.02053	-1.1222	10	0.87932	D	0	.	17.5894	0.87991	0.0:1.0:0.0:0.0	.	572;601	Q6NSL1;Q16849	.;PTPRN_HUMAN	Q	572;601;572;511	ENSP00000386638:R572Q;ENSP00000295718:R601Q;ENSP00000444244:R511Q	ENSP00000295718:R601Q	R	-	2	0	PTPRN	219870936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.906000	0.56340	2.468000	0.83385	0.655000	0.94253	CGG		PASS	0.667	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			10	29	10	29	---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224862912	224862912	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:224862912C>T	ENST00000258405.4	-	3	649	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	SERPINE2_ENST00000409840.3_Missense_Mutation_p.C136Y|SERPINE2_ENST00000409304.1_Missense_Mutation_p.C136Y|SERPINE2_ENST00000447280.2_Missense_Mutation_p.C148Y	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	136					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.C148Y(1)|p.C136Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCGGACCTCACACTGGAACAC	0.448																																						uc002vnu.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(406-408)TGT>TAT		plasminogen activator inhibitor type 1, member 2							109.0	98.0	102.0					2																	224862912		2203	4300	6503	SO:0001583	missense	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224862912C>T	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.407G>A	2.37:g.224862912C>T	ENSP00000258405:p.Cys136Tyr					SERPINE2_uc002vnt.2_Missense_Mutation_p.C136Y|SERPINE2_uc010zlr.1_Missense_Mutation_p.C148Y|SERPINE2_uc002vnv.2_Missense_Mutation_p.C136Y	p.C136Y	NM_006216	NP_006207	P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	3	650	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)	136					B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	ENST00000258405.4	37	c.407G>A	CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916776	0.52546	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.92	5.05	0.67936	Serpin domain (3);	0.091356	0.85682	D	0.000000	D	0.89763	0.6809	L	0.61036	1.89	0.58432	D	0.999995	D;D	0.69078	0.997;0.997	D;D	0.71656	0.974;0.974	D	0.90958	0.4810	10	0.87932	D	0	.	17.3757	0.87391	0.0:0.8752:0.1248:0.0	.	148;136	B4DIF2;P07093	.;GDN_HUMAN	Y	136;136;136;148;136	ENSP00000386412:C136Y;ENSP00000258405:C136Y;ENSP00000386969:C136Y;ENSP00000415786:C148Y;ENSP00000408452:C136Y	ENSP00000258405:C136Y	C	-	2	0	SERPINE2	224571156	1.000000	0.71417	0.988000	0.46212	0.268000	0.26511	4.225000	0.58600	1.529000	0.49120	-0.127000	0.14921	TGT		PASS	0.448	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216		10	69	10	69	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225422481	225422481	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:225422481A>C	ENST00000264414.4	-	2	497	c.159T>G	c.(157-159)agT>agG	p.S53R	CUL3_ENST00000409096.1_Missense_Mutation_p.S29R|CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000344951.4_Intron|CUL3_ENST00000409777.1_Missense_Mutation_p.S29R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	53					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.S53R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCTCCTCAAAACTAAGACCAC	0.353																																						uc002vny.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(157-159)AGT>AGG		cullin 3							100.0	98.0	98.0					2																	225422481		2203	4297	6500	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225422481A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.159T>G	2.37:g.225422481A>C	ENSP00000264414:p.Ser53Arg					CUL3_uc010zls.1_Intron|CUL3_uc010fwy.1_Missense_Mutation_p.S59R	p.S53R	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	543	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	53					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.159T>G	CCDS2462.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.53|17.53	3.413483|3.413483	0.62511|0.62511	.|.	.|.	ENSG00000036257|ENSG00000036257	ENST00000436172|ENST00000264414;ENST00000409096;ENST00000409777	.|T;T;T	.|0.73897	.|-0.79;-0.79;-0.79	5.55|5.55	2.93|2.93	0.34026|0.34026	.|Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85017|0.85017	0.5601|0.5601	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.994;0.994	D|D	0.84502|0.84502	0.0617|0.0617	5|10	.|0.59425	.|D	.|0.04	.|.	8.0375|8.0375	0.30502|0.30502	0.6895:0.0:0.3105:0.0|0.6895:0.0:0.3105:0.0	.|.	.|31;53	.|Q53S54;Q13618	.|.;CUL3_HUMAN	V|R	74|53;29;29	.|ENSP00000264414:S53R;ENSP00000387200:S29R;ENSP00000386525:S29R	.|ENSP00000264414:S53R	F|S	-|-	1|3	0|2	CUL3|CUL3	225130725|225130725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.031000|2.031000	0.41117|0.41117	0.918000|0.918000	0.36919|0.36919	0.533000|0.533000	0.62120|0.62120	TTT|AGT		PASS	0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			7	48	7	48	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228886480	228886480	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:228886480A>T	ENST00000392056.3	-	6	690	c.644T>A	c.(643-645)cTc>cAc	p.L215H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L215H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	215						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.L215H(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGAAGCGGTGAGAAAGTCTTC	0.478																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(643-645)CTC>CAC		sphingosine kinase type 1-interacting protein							117.0	112.0	114.0					2																	228886480		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228886480A>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.644T>A	2.37:g.228886480A>T	ENSP00000375909:p.Leu215His					SPHKAP_uc002vpp.2_Missense_Mutation_p.L215H|SPHKAP_uc010zlx.1_Missense_Mutation_p.L215H	p.L215H	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	691	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	215					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.644T>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550360	0.86127	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.18960	2.18;2.18	5.79	5.79	0.91817	.	0.059656	0.64402	D	0.000002	T	0.47040	0.1424	M	0.72894	2.215	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.87578	0.988;0.998	T	0.47328	-0.9126	10	0.87932	D	0	.	15.3114	0.74035	1.0:0.0:0.0:0.0	.	215;215	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	H	215	ENSP00000375909:L215H;ENSP00000339886:L215H	ENSP00000339886:L215H	L	-	2	0	SPHKAP	228594724	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.720000	0.74723	2.218000	0.71995	0.533000	0.62120	CTC		PASS	0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		21	75	21	75	---	---	---	---
RAB17	64284	broad.mit.edu	37	2	238486673	238486673	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:238486673G>A	ENST00000264601.3	-	3	912	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	RAB17_ENST00000538644.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	95					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L95F(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TACACCAGAAGCGCAGCGTTG	0.592																																					Colon(56;987 1029 6466 13943 27336)	uc002vwz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)CTT>TTT		RAB17, member RAS oncogene family							100.0	90.0	94.0					2																	238486673		2203	4300	6503	SO:0001583	missense	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238486673G>A	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.283C>T	2.37:g.238486673G>A	ENSP00000264601:p.Leu95Phe					RAB17_uc002vxa.1_RNA|RAB17_uc002vxb.1_Intron	p.L95F	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	3	927	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	95					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	37	c.283C>T	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011784	0.35511	.	.	ENSG00000124839	ENST00000264601;ENST00000411462	D;D	0.83506	-1.73;-1.73	4.44	1.42	0.22433	Small GTP-binding protein domain (1);	0.137493	0.33272	N	0.005083	T	0.81833	0.4906	L	0.31526	0.94	0.80722	D	1	D	0.58268	0.982	P	0.57620	0.824	T	0.80721	-0.1256	10	0.87932	D	0	-0.4996	12.0173	0.53321	0.0:0.0:0.4003:0.5997	.	95	Q9H0T7	RAB17_HUMAN	F	95;73	ENSP00000264601:L95F;ENSP00000400240:L73F	ENSP00000264601:L95F	L	-	1	0	RAB17	238151412	0.973000	0.33851	0.003000	0.11579	0.115000	0.19883	1.582000	0.36568	-0.020000	0.14032	0.609000	0.83330	CTT		PASS	0.592	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			10	93	10	93	---	---	---	---
TRAF3IP1	26146	broad.mit.edu	37	2	239237975	239237975	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:239237975G>A	ENST00000373327.4	+	5	1129	c.907G>A	c.(907-909)Gag>Aag	p.E303K	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.E303K|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.E303K	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	303	Abolishes microtubules-binding when missing.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E303K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TGACAAACCTGAGAAAAAGGT	0.478																																						uc002vye.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(907-909)GAG>AAG		TNF receptor-associated factor 3 interacting							56.0	66.0	63.0					2																	239237975		2191	4273	6464	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237975G>A	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.907G>A	2.37:g.239237975G>A	ENSP00000362424:p.Glu303Lys					TRAF3IP1_uc002vyf.2_Missense_Mutation_p.E303K	p.E303K	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	5	1026	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	303			Abolishes microtubules-binding when missing.|DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.907G>A	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893263	0.33442	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.14144	2.53;2.53;2.53	4.37	4.37	0.52481	.	0.611008	0.17919	N	0.157580	T	0.16981	0.0408	M	0.73962	2.25	0.19300	N	0.999975	B;B	0.29909	0.094;0.261	B;B	0.30251	0.045;0.113	T	0.09818	-1.0657	10	0.26408	T	0.33	-12.3496	9.8949	0.41311	0.0973:0.0:0.9027:0.0	.	303;303	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	K	303	ENSP00000375851:E303K;ENSP00000362424:E303K;ENSP00000375852:E303K	ENSP00000362424:E303K	E	+	1	0	TRAF3IP1	238902714	1.000000	0.71417	0.151000	0.22473	0.038000	0.13279	4.584000	0.60971	2.159000	0.67721	0.655000	0.94253	GAG		PASS	0.478	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		4	71	4	71	---	---	---	---
OR6B2	389090	broad.mit.edu	37	2	240968926	240968926	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr2:240968926C>A	ENST00000402971.2	-	1	980	c.921G>T	c.(919-921)ttG>ttT	p.L307F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L307F(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AAGTTTGACCCAAGCCCAAGG	0.388																																						uc002vyr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(919-921)TTG>TTT		olfactory receptor, family 6, subfamily B,							113.0	108.0	109.0					2																	240968926		1854	4101	5955	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240968926C>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.921G>T	2.37:g.240968926C>A	ENSP00000384563:p.Leu307Phe					OR6B2_uc010zoc.1_Missense_Mutation_p.L307F	p.L307F	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	967	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	307			Cytoplasmic (Potential).		B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.921G>T	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	C	5.772	0.326742	0.10900	.	.	ENSG00000182083	ENST00000402971	T	0.37584	1.19	3.83	-7.66	0.01277	.	1.076690	0.07438	N	0.896796	T	0.16300	0.0392	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.21314	-1.0249	10	0.29301	T	0.29	.	5.33	0.15928	0.4463:0.3526:0.0:0.201	.	307	Q6IFH4	OR6B2_HUMAN	F	307	ENSP00000384563:L307F	ENSP00000384563:L307F	L	-	3	2	OR6B2	240617599	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-0.285000	0.08410	-1.269000	0.02436	0.543000	0.68304	TTG		PASS	0.388	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		37	106	37	106	---	---	---	---
CIDEC	63924	broad.mit.edu	37	3	9908844	9908844	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:9908844G>C	ENST00000336832.2	-	6	830	c.691C>G	c.(691-693)Ccg>Gcg	p.P231A	CIDEC_ENST00000383817.1_Missense_Mutation_p.P115R|CIDEC_ENST00000430427.1_Missense_Mutation_p.P241A|CIDEC_ENST00000455015.1_Missense_Mutation_p.P157A|CIDEC_ENST00000423850.1_Missense_Mutation_p.P157A|CIDEC_ENST00000443115.1_Missense_Mutation_p.P115R	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	231					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|lipid particle organization (GO:0034389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)|nucleus (GO:0005634)		p.P231A(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					AGACAGGTCGGGATAAGGGAT	0.587																																						uc003btq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(691-693)CCG>GCG		cell death-inducing DFFA-like effector c							112.0	110.0	111.0					3																	9908844		2203	4300	6503	SO:0001583	missense	63924				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus		g.chr3:9908844G>C		CCDS2587.1, CCDS56239.1, CCDS74897.1	3p25	2004-07-26			ENSG00000187288	ENSG00000187288			24229	protein-coding gene	gene with protein product		612120				12429024	Standard	NM_001199623		Approved	CIDE-3, FLJ20871, Fsp27	uc021wsw.1	Q96AQ7	OTTHUMG00000128522	ENST00000336832.2:c.691C>G	3.37:g.9908844G>C	ENSP00000338642:p.Pro231Ala					CIDEC_uc003bto.2_RNA|CIDEC_uc010hcp.2_Missense_Mutation_p.P115R|CIDEC_uc003btp.2_Missense_Mutation_p.P241A|CIDEC_uc003btr.2_Missense_Mutation_p.P157A|CIDEC_uc003bts.2_Missense_Mutation_p.P157A	p.P231A	NM_022094	NP_071377	Q96AQ7	CIDEC_HUMAN			6	831	-	Medulloblastoma(99;0.227)		231					C9JMN7|Q67DW9|Q9GZY9	Missense_Mutation	SNP	ENST00000336832.2	37	c.691C>G	CCDS2587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.466|9.466	1.094408|1.094408	0.20471|0.20471	.|.	.|.	ENSG00000187288|ENSG00000187288	ENST00000336832;ENST00000455015;ENST00000423850;ENST00000430427|ENST00000383817;ENST00000443115	T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99|.	5.27|5.27	2.51|2.51	0.30379|0.30379	.|.	0.326984|0.326984	0.31809|0.31809	N|N	0.007031|0.007031	T|T	0.33323|0.33323	0.0859|0.0859	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	1|1	B;B|P	0.31077|0.49090	0.199;0.307|0.919	B;B|B	0.27380|0.43052	0.049;0.079|0.406	T|T	0.33879|0.33879	-0.9851|-0.9851	10|9	0.66056|0.87932	D|D	0.02|0	-17.0817|-17.0817	4.0551|4.0551	0.09813|0.09813	0.2524:0.0:0.5842:0.1634|0.2524:0.0:0.5842:0.1634	.|.	231;241|115	Q96AQ7;C9JMN7|Q96AQ7-3	CIDEC_HUMAN;.|.	A|R	231;157;157;241|115	ENSP00000338642:P231A;ENSP00000392975:P157A;ENSP00000400649:P157A;ENSP00000408631:P241A|.	ENSP00000338642:P231A|ENSP00000373328:P115R	P|P	-|-	1|2	0|0	CIDEC|CIDEC	9883844|9883844	0.437000|0.437000	0.25593|0.25593	0.001000|0.001000	0.08648|0.08648	0.508000|0.508000	0.34012|0.34012	2.121000|2.121000	0.41977|0.41977	0.374000|0.374000	0.24650|0.24650	0.558000|0.558000	0.71614|0.71614	CCG|CCC		PASS	0.587	CIDEC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250334.1	NM_022094		41	93	41	93	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10320103	10320103	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:10320103G>C	ENST00000287652.4	+	6	3153	c.2102G>C	c.(2101-2103)aGa>aCa	p.R701T	TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R701T	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	701					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.R701T(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCACTGGAGAGAATCATCGTG	0.597																																						uc003bvg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)	2						c.(2101-2103)AGA>ACA		TatD DNase domain containing 2							170.0	168.0	169.0					3																	10320103		2203	4300	6503	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10320103G>C	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.2102G>C	3.37:g.10320103G>C	ENSP00000287652:p.Arg701Thr					TATDN2_uc003bvf.2_Missense_Mutation_p.R701T|TATDN2_uc011atr.1_Missense_Mutation_p.R701T|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|GHRLOS_uc011atw.1_5'Flank|GHRLOS_uc011atx.1_5'Flank|GHRLOS_uc011aty.1_5'Flank|GHRLOS_uc011atz.1_5'Flank|GHRLOS_uc011aua.1_5'Flank|GHRLOS_uc010hdl.2_5'Flank|GHRLOS_uc011aub.1_5'Flank|GHRLOS_uc010hdm.2_5'Flank|GHRLOS_uc011auc.1_5'Flank|GHRLOS_uc011aud.1_5'Flank|GHRLOS_uc011aue.1_5'Flank|GHRLOS_uc011auf.1_5'Flank|GHRLOS_uc011aug.1_5'Flank	p.R701T	NM_014760	NP_055575	Q93075	TATD2_HUMAN			6	2683	+			701					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.2102G>C	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664282	0.67700	.	.	ENSG00000157014	ENST00000287652;ENST00000448281;ENST00000426850	T;T	0.36340	1.26;1.26	5.52	4.65	0.58169	Deoxyribonuclease, TatD-related, conserved site (1);	0.077140	0.46758	U	0.000279	T	0.69433	0.3110	H	0.95224	3.64	0.47949	D	0.999552	D	0.89917	1.0	D	0.91635	0.999	T	0.78079	-0.2344	10	0.87932	D	0	-23.7443	11.903	0.52694	0.0837:0.0:0.9163:0.0	.	701	Q93075	TATD2_HUMAN	T	701;701;122	ENSP00000287652:R701T;ENSP00000408736:R701T	ENSP00000287652:R701T	R	+	2	0	TATDN2	10295103	1.000000	0.71417	0.993000	0.49108	0.782000	0.44232	6.772000	0.75001	1.336000	0.45506	0.655000	0.94253	AGA		PASS	0.597	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		7	211	7	211	---	---	---	---
TIMP4	7079	broad.mit.edu	37	3	12192811	12192811	+	IGR	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:12192811C>T	ENST00000287814.4	-	0	1650				SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4						central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.P184P(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CATACTACCCCAACCACAAAG	0.453																																					Melanoma(199;1446 2144 30617 38794 51714)	uc003bwm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(757-759)CCC>CCT		synapsin II isoform IIa							80.0	74.0	76.0					3																	12192811		1913	4119	6032	SO:0001628	intergenic_variant	6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12192811C>T	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763		3.37:g.12192811C>T						SYN2_uc003bwl.1_Silent_p.P253P|SYN2_uc003bwn.2_5'UTR	p.P253P	NM_133625	NP_598328	Q92777	SYN2_HUMAN			9	923	+			253					B2R7K6	Silent	SNP	ENST00000287814.4	37	c.759C>T	CCDS2608.1																																																																																				PASS	0.453	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		11	17	11	17	---	---	---	---
CCDC174	51244	broad.mit.edu	37	3	14711491	14711491	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:14711491C>G	ENST00000383794.3	+	10	1076	c.1003C>G	c.(1003-1005)Cca>Gca	p.P335A	CCDC174_ENST00000303688.7_Missense_Mutation_p.P259A|CCDC174_ENST00000476763.1_3'UTR	NM_016474.4	NP_057558.3	Q6PII3	CC174_HUMAN	coiled-coil domain containing 174	335						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P335A(1)									TGTGCCAACCCCACGTCCTGC	0.498																																						uc003byw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)CCA>GCA		hypothetical protein LOC51244							62.0	54.0	57.0					3																	14711491		2203	4300	6503	SO:0001583	missense	51244							g.chr3:14711491C>G	AF151046	CCDS2620.2	3p25.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000154781	ENSG00000154781			28033	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 19"""	C3orf19		11042152	Standard	NM_016474		Approved	FLJ33839	uc003byw.3	Q6PII3	OTTHUMG00000129837	ENST00000383794.3:c.1003C>G	3.37:g.14711491C>G	ENSP00000373304:p.Pro335Ala					C3orf19_uc010hej.2_Missense_Mutation_p.P164A	p.P335A	NM_016474	NP_057558	Q6PII3	CC019_HUMAN			10	1094	+			335					Q96CS5	Missense_Mutation	SNP	ENST00000383794.3	37	c.1003C>G	CCDS2620.2	.	.	.	.	.	.	.	.	.	.	C	9.613	1.131865	0.21041	.	.	ENSG00000154781	ENST00000383794;ENST00000303688;ENST00000285042	T;T	0.52754	0.87;0.65	5.41	2.43	0.29744	.	0.188132	0.46758	D	0.000278	T	0.37652	0.1011	L	0.53249	1.67	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.20840	-1.0263	10	0.27785	T	0.31	-45.1517	7.361	0.26745	0.2937:0.6263:0.0:0.08	.	335	Q6PII3	CC019_HUMAN	A	335;259;162	ENSP00000373304:P335A;ENSP00000302344:P259A	ENSP00000285042:P162A	P	+	1	0	C3orf19	14686495	0.011000	0.17503	0.013000	0.15412	0.030000	0.12068	0.945000	0.29056	0.748000	0.32831	-0.216000	0.12614	CCA		PASS	0.498	CCDC174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252077.2	NM_016474		18	30	18	30	---	---	---	---
DAZL	1618	broad.mit.edu	37	3	16636039	16636039	+	Splice_Site	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:16636039C>T	ENST00000399444.2	-	8	915		c.e8+1		DAZL_ENST00000250863.8_Splice_Site	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like						female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.?(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ATTCACTTTACCGGAGGTACA	0.303																																						uc003cbb.2																			1	Unknown(1)		lung(1)		0						c.e8+1		deleted in azoospermia-like							37.0	40.0	39.0					3																	16636039		2130	4270	6400	SO:0001630	splice_region_variant	1618				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr3:16636039C>T	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.621+1G>A	3.37:g.16636039C>T						DAZL_uc003cba.2_Splice_Site_p.P227_splice	p.P207_splice	NM_001351	NP_001342	Q92904	DAZL_HUMAN			8	915	-								O15396|Q5HYB4|Q92909	Splice_Site	SNP	ENST00000399444.2	37	c.621_splice	CCDS43059.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701683	0.68501	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	.	.	.	5.92	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2731	0.73720	0.0:0.8604:0.1396:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DAZL	16611043	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.724000	0.61972	1.473000	0.48159	0.650000	0.86243	.		PASS	0.303	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351	Intron	14	18	14	18	---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19921152	19921152	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:19921152C>A	ENST00000295824.9	-	13	2634	c.2473G>T	c.(2473-2475)Gac>Tac	p.D825Y	EFHB_ENST00000344838.4_Missense_Mutation_p.D695Y	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	825							calcium ion binding (GO:0005509)	p.D823Y(1)|p.D825Y(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTGATCCGGTCTGCATGCCGT	0.338																																						uc003cbl.3																			2	Substitution - Missense(2)		lung(2)		0						c.(2473-2475)GAC>TAC		EF hand domain family, member B							218.0	201.0	207.0					3																	19921152		2203	4300	6503	SO:0001583	missense	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19921152C>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.2473G>T	3.37:g.19921152C>A	ENSP00000295824:p.Asp825Tyr					EFHB_uc003cbm.2_Missense_Mutation_p.D695Y	p.D825Y	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			13	2669	-			825					A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	c.2473G>T	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454906	0.26161	.	.	ENSG00000163576	ENST00000295824;ENST00000344838	T;T	0.26810	1.71;1.76	5.57	4.65	0.58169	.	0.701451	0.14137	N	0.338990	T	0.43077	0.1231	M	0.62723	1.935	0.35238	D	0.777531	D;D	0.61080	0.983;0.989	P;P	0.58873	0.847;0.707	T	0.48958	-0.8988	9	.	.	.	-6.596	12.9387	0.58329	0.1628:0.8372:0.0:0.0	.	695;825	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	Y	825;695	ENSP00000295824:D825Y;ENSP00000342263:D695Y	.	D	-	1	0	EFHB	19896156	0.809000	0.29036	0.993000	0.49108	0.121000	0.20230	0.704000	0.25661	2.619000	0.88677	0.655000	0.94253	GAC		PASS	0.338	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		60	113	60	113	---	---	---	---
TTC21A	199223	broad.mit.edu	37	3	39178864	39178864	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:39178864A>G	ENST00000431162.2	+	25	3591	c.3457A>G	c.(3457-3459)Ata>Gta	p.I1153V	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.I1105V|TTC21A_ENST00000301819.6_Missense_Mutation_p.I1154V			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1153								p.I1154V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CTTCATCCAGATAGCGCAGGC	0.667																																						uc003cjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3457-3459)ATA>GTA		tetratricopeptide repeat domain 21A isoform 2							24.0	33.0	30.0					3																	39178864		2158	4240	6398	SO:0001583	missense	199223						binding	g.chr3:39178864A>G	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3457A>G	3.37:g.39178864A>G	ENSP00000398211:p.Ile1153Val					TTC21A_uc003cje.2_Missense_Mutation_p.I1154V|TTC21A_uc003cjd.2_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.I1105V|TTC21A_uc003cjf.2_Missense_Mutation_p.I274V	p.I1153V	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	25	3634	+			1153					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3457A>G	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	A	8.716	0.913084	0.17907	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.74737	-0.87;-0.87;-0.87	4.44	3.29	0.37713	Tetratricopeptide-like helical (1);	0.514223	0.19689	N	0.108310	T	0.57932	0.2087	L	0.27053	0.805	0.26858	N	0.968019	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.46162	-0.9211	10	0.30854	T	0.27	-4.8471	8.418	0.32683	0.9028:0.0:0.0972:0.0	.	1105;1154;1153	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	V	1154;1136;1153;1105	ENSP00000301819:I1154V;ENSP00000398211:I1153V;ENSP00000410882:I1105V	ENSP00000301819:I1154V	I	+	1	0	TTC21A	39153868	1.000000	0.71417	0.710000	0.30468	0.209000	0.24338	3.805000	0.55575	1.629000	0.50426	0.172000	0.16884	ATA		PASS	0.667	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		12	19	12	19	---	---	---	---
CCR9	10803	broad.mit.edu	37	3	45943155	45943155	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:45943155C>T	ENST00000357632.2	+	3	1055	c.875C>T	c.(874-876)tCc>tTc	p.S292F	CCR9_ENST00000395963.2_Missense_Mutation_p.S280F|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.S280F|Y_RNA_ENST00000364765.1_RNA|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	292					cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)	p.S292F(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGTGCCGTTTCCACCAACATT	0.498																																						uc003coz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(874-876)TCC>TTC		chemokine (C-C motif) receptor 9 isoform A							196.0	167.0	177.0					3																	45943155		2203	4300	6503	SO:0001583	missense	10803				cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		g.chr3:45943155C>T	AJ132337	CCDS2732.1, CCDS2733.1	3p21.31	2012-09-20			ENSG00000173585	ENSG00000173585		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1610	protein-coding gene	gene with protein product		604738		GPR28		10229797	Standard	NM_006641		Approved	GPR-9-6, CDw199	uc003coz.2	P51686	OTTHUMG00000133450	ENST00000357632.2:c.875C>T	3.37:g.45943155C>T	ENSP00000350256:p.Ser292Phe					LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.1_Missense_Mutation_p.S280F|CCR9_uc003cpa.1_Missense_Mutation_p.S280F	p.S292F	NM_031200	NP_112477	P51686	CCR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)	3	1032	+			292			Extracellular (Potential).		Q4VBM3|Q549E0|Q9UQQ6	Missense_Mutation	SNP	ENST00000357632.2	37	c.875C>T	CCDS2732.1	.	.	.	.	.	.	.	.	.	.	C	5.362	0.252044	0.10185	.	.	ENSG00000173585	ENST00000357632;ENST00000395963;ENST00000355983	T;T;T	0.38560	1.13;1.13;1.13	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.645728	0.15076	N	0.281955	T	0.43942	0.1270	M	0.68952	2.095	0.09310	N	1	B	0.16603	0.018	B	0.21546	0.035	T	0.41466	-0.9507	10	0.72032	D	0.01	.	11.3992	0.49860	0.0:0.8684:0.0:0.1316	.	292	P51686	CCR9_HUMAN	F	292;280;280	ENSP00000350256:S292F;ENSP00000379292:S280F;ENSP00000348260:S280F	ENSP00000348260:S280F	S	+	2	0	CCR9	45918159	0.000000	0.05858	0.898000	0.35279	0.902000	0.53008	1.211000	0.32382	2.289000	0.77006	0.563000	0.77884	TCC		PASS	0.498	CCR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257323.2			7	89	7	89	---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48459365	48459365	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:48459365C>G	ENST00000358536.4	-	16	3598	c.3329G>C	c.(3328-3330)gGa>gCa	p.G1110A	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G927A|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G927A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G1110A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1110	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.G1110A(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGGGCACTCCAGCCACCGT	0.667																																						uc003csw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(3328-3330)GGA>GCA		plexin B1 precursor							57.0	55.0	55.0					3																	48459365		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48459365C>G	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3329G>C	3.37:g.48459365C>G	ENSP00000351338:p.Gly1110Ala					PLXNB1_uc003csu.2_Missense_Mutation_p.G927A|PLXNB1_uc003csx.2_Missense_Mutation_p.G1110A|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank	p.G1110A	NM_002673	NP_002664	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	16	3599	-			1110			IPT/TIG 1.|Extracellular (Potential).		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3329G>C	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602450	0.87157	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.34	5.34	0.76211	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;0.985	D;D	0.72625	0.978;0.918	D	0.91433	0.5167	10	0.66056	D	0.02	.	18.0344	0.89294	0.0:1.0:0.0:0.0	.	1110;927	O43157;O43157-2	PLXB1_HUMAN;.	A	1110;927;1110;927	ENSP00000296440:G1110A;ENSP00000351242:G927A;ENSP00000351338:G1110A;ENSP00000414199:G927A	ENSP00000296440:G1110A	G	-	2	0	PLXNB1	48434369	0.996000	0.38824	0.999000	0.59377	0.940000	0.58332	3.782000	0.55401	2.497000	0.84241	0.561000	0.74099	GGA		PASS	0.667	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		8	46	8	46	---	---	---	---
SLC26A6	65010	broad.mit.edu	37	3	48665951	48665951	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:48665951G>A	ENST00000395550.2	-	16	1763	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	SLC26A6_ENST00000455886.2_Silent_p.L536L|SLC26A6_ENST00000337000.8_Silent_p.L465L|SLC26A6_ENST00000420764.2_Silent_p.L572L|SLC26A6_ENST00000358747.6_Silent_p.L551L|SLC26A6_ENST00000383733.3_Silent_p.L572L			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	572	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.L572L(1)	SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TCTGGGAGATGAGGAAGTCGA	0.552																																					NSCLC(13;369 479 28271 30152 44026)	uc003cuf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(11929-11931)CTC>CTT		cadherin EGF LAG seven-pass G-type receptor 3							103.0	109.0	107.0					3																	48665951		2034	4213	6247	SO:0001819	synonymous_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48665951G>A	AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.1716C>T	3.37:g.48665951G>A						SLC26A6_uc003cug.2_Silent_p.L551L|SLC26A6_uc003cuh.2_Silent_p.L572L|SLC26A6_uc010hke.2_Silent_p.L423L|SLC26A6_uc003cuk.2_Silent_p.L465L|SLC26A6_uc003cui.2_Silent_p.L572L|SLC26A6_uc003cuj.2_Silent_p.L572L|SLC26A6_uc011bbp.1_Silent_p.L536L	p.L3977L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	52	11931	-			Error:Variant_position_missing_in_Q9NYQ7_after_alignment					B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Silent	SNP	ENST00000395550.2	37	c.11931C>T	CCDS43087.1																																																																																				PASS	0.552	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345040.1	NM_022911		11	117	11	117	---	---	---	---
TRAIP	10293	broad.mit.edu	37	3	49885009	49885009	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:49885009G>C	ENST00000331456.2	-	3	302	c.189C>G	c.(187-189)ttC>ttG	p.F63L	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Missense_Mutation_p.F63L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	63					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F63L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAAGATCAAAGAAGAGCTTAT	0.438																																						uc003cxs.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(187-189)TTC>TTG		TRAF interacting protein							170.0	171.0	170.0					3																	49885009		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49885009G>C	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.189C>G	3.37:g.49885009G>C	ENSP00000328203:p.Phe63Leu					TRAIP_uc010hla.1_Missense_Mutation_p.F63L|TRAIP_uc011bcx.1_Missense_Mutation_p.F63L	p.F63L	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	295	-			63					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.189C>G	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084301	0.55861	.	.	ENSG00000183763	ENST00000331456;ENST00000469027;ENST00000482243	T;T	0.43688	1.13;0.94	5.65	3.85	0.44370	.	0.155351	0.64402	D	0.000018	T	0.41465	0.1160	L	0.55481	1.735	0.39983	D	0.974948	P;P;P	0.50528	0.871;0.908;0.936	B;B;P	0.47299	0.376;0.283;0.543	T	0.23976	-1.0173	10	0.21540	T	0.41	-21.9666	10.8437	0.46730	0.2132:0.0:0.7868:0.0	.	63;63;63	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	L	63;63;65	ENSP00000328203:F63L;ENSP00000420085:F63L	ENSP00000328203:F63L	F	-	3	2	TRAIP	49860013	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.149000	0.58091	0.728000	0.32382	0.655000	0.94253	TTC		PASS	0.438	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		7	164	7	164	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50004983	50004983	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:50004983G>C	ENST00000266022.4	+	3	384	c.125G>C	c.(124-126)aGa>aCa	p.R42T	RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	42					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R42T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GCTCAAGAGAGACACTCTGGC	0.493																																						uc003cyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(124-126)AGA>ACA		RNA binding motif protein 6							98.0	104.0	102.0					3																	50004983		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50004983G>C	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.125G>C	3.37:g.50004983G>C	ENSP00000266022:p.Arg42Thr					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.R42T	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	258	+			42					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.125G>C	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530754	0.64860	.	.	ENSG00000004534	ENST00000266022;ENST00000416583;ENST00000433811	T	0.47177	0.85	6.04	6.04	0.98038	.	0.127120	0.49916	D	0.000135	T	0.51143	0.1657	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.52888	-0.8515	9	.	.	.	-14.9218	20.5792	0.99380	0.0:0.0:1.0:0.0	.	42	P78332	RBM6_HUMAN	T	42	ENSP00000266022:R42T	.	R	+	2	0	RBM6	49979987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.473000	0.73572	2.873000	0.98535	0.561000	0.74099	AGA		PASS	0.493	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		16	87	16	87	---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112349095	112349095	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:112349095C>G	ENST00000206423.3	-	3	2853	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	CCDC80_ENST00000439685.2_Missense_Mutation_p.E634Q	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	634					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.E634Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATATTGTTCTCAGCCTTGGGA	0.423																																						uc003dzf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1900-1902)GAG>CAG		steroid-sensitive protein 1 precursor							157.0	145.0	149.0					3																	112349095		2203	4300	6503	SO:0001583	missense	151887							g.chr3:112349095C>G	AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1900G>C	3.37:g.112349095C>G	ENSP00000206423:p.Glu634Gln					CCDC80_uc011bhv.1_Missense_Mutation_p.E634Q|CCDC80_uc003dzg.2_Missense_Mutation_p.E634Q|CCDC80_uc003dzh.1_Missense_Mutation_p.E634Q	p.E634Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN			3	2118	-			634					D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	c.1900G>C	CCDS2968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.08|17.08	3.296600|3.296600	0.60086|0.60086	.|.	.|.	ENSG00000091986|ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594|ENST00000461431	T;T|.	0.44482|.	0.92;0.92|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.050234|.	0.85682|.	D|.	0.000000|.	T|.	0.66915|.	0.2838|.	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	P;P;P|.	0.37207|.	0.532;0.587;0.587|.	B;B;B|.	0.43052|.	0.284;0.406;0.406|.	T|.	0.61888|.	-0.6970|.	10|.	0.33141|.	T|.	0.24|.	-35.0289|-35.0289	19.3382|19.3382	0.94329|0.94329	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	645;634;634|.	Q76M96-2;A3KC71;Q76M96|.	.;.;CCD80_HUMAN|.	Q|S	634;634;262|31	ENSP00000206423:E634Q;ENSP00000411814:E634Q|.	ENSP00000206423:E634Q|.	E|X	-|-	1|2	0|2	CCDC80|CCDC80	113831785|113831785	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.414000|7.414000	0.80117|0.80117	2.643000|2.643000	0.89663|0.89663	0.460000|0.460000	0.39030|0.39030	GAG|TGA		PASS	0.423	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511		10	118	10	118	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113847578	113847578	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:113847578C>G	ENST00000460779.1	-	8	1477	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	DRD3_ENST00000383673.2_Missense_Mutation_p.K396N|DRD3_ENST00000295881.7_Missense_Mutation_p.K363N|DRD3_ENST00000467632.1_Missense_Mutation_p.K396N	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	396				K -> L (in Ref. 7; AAH95510). {ECO:0000305}.	acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.K396N(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AAGACAGGATCTTGAGGAAGG	0.527																																						uc003ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1186-1188)AAG>AAC		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						332.0	327.0	328.0					3																	113847578		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847578C>G		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.1188G>C	3.37:g.113847578C>G	ENSP00000419402:p.Lys396Asn					DRD3_uc010hqn.1_Missense_Mutation_p.K396N|DRD3_uc003ebb.1_Missense_Mutation_p.K363N|DRD3_uc003ebc.1_Missense_Mutation_p.K396N	p.K396N	NM_000796	NP_000787	P35462	DRD3_HUMAN			8	1611	-			396	K -> L (in Ref. 7; AAH95510).		Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.1188G>C	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142359	0.77888	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.55	4.6	0.57074	.	0.116424	0.56097	D	0.000034	T	0.48205	0.1487	M	0.64630	1.985	0.50467	D	0.999871	P;P;P;B	0.46621	0.881;0.753;0.753;0.382	P;P;P;B	0.49332	0.607;0.53;0.607;0.168	T	0.44697	-0.9311	10	0.52906	T	0.07	.	11.1397	0.48396	0.0:0.8526:0.0:0.1474	.	396;396;396;363	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	N	396;396;396;363	ENSP00000419402:K396N;ENSP00000420662:K396N;ENSP00000373169:K396N;ENSP00000295881:K363N	ENSP00000295881:K363N	K	-	3	2	DRD3	115330268	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.151000	0.50670	2.890000	0.99128	0.585000	0.79938	AAG		PASS	0.527	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		163	378	163	378	---	---	---	---
TIMMDC1	51300	broad.mit.edu	37	3	119222385	119222385	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:119222385G>C	ENST00000494664.1	+	3	569	c.367G>C	c.(367-369)Gca>Cca	p.A123P	TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	123						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.A123P(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						TTAGCAATCTGCACATCGTGC	0.408																																						uc003ecn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GCA>CCA		hypothetical protein LOC51300							69.0	66.0	67.0					3																	119222385		2203	4300	6503	SO:0001583	missense	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119222385G>C	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.367G>C	3.37:g.119222385G>C	ENSP00000418803:p.Ala123Pro					C3orf1_uc003eco.2_RNA|C3orf1_uc003ecp.2_RNA	p.A123P	NM_016589	NP_057673	Q9NPL8	TIDC1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	3	580	+			123					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Missense_Mutation	SNP	ENST00000494664.1	37	c.367G>C	CCDS33831.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164024	0.57476	.	.	ENSG00000113845	ENST00000494664	T	0.30448	1.53	5.59	5.59	0.84812	.	0.062985	0.64402	D	0.000007	T	0.56587	0.1995	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55471	-0.8136	10	0.42905	T	0.14	-14.4448	15.0925	0.72207	0.0:0.0:1.0:0.0	.	123	Q9NPL8	TIDC1_HUMAN	P	123	ENSP00000418803:A123P	ENSP00000264244:A123P	A	+	1	0	TIMMDC1	120705075	1.000000	0.71417	0.972000	0.41901	0.192000	0.23643	6.412000	0.73303	2.640000	0.89533	0.462000	0.41574	GCA		PASS	0.408	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		7	18	7	18	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120365209	120365209	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:120365209C>A	ENST00000283871.5	-	9	1013	c.554G>T	c.(553-555)gGa>gTa	p.G185V		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	185					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.G185V(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GAACCGCATTCCTCTCTGGAA	0.483																																						uc003edw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GGA>GTA		homogentisate 1,2-dioxygenase							96.0	89.0	92.0					3																	120365209		2203	4299	6502	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365209C>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.554G>T	3.37:g.120365209C>A	ENSP00000283871:p.Gly185Val					HGD_uc003edv.2_Missense_Mutation_p.G44V	p.G185V	NM_000187	NP_000178	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	924	-			185					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.554G>T	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.840396|4.840396	0.91117|0.91117	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000283871	.|D	.|0.99910	.|-7.88	5.91|5.91	5.91|5.91	0.95273|0.95273	.|Cupin, RmlC-type (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99933	.|0.9970	H|H	0.96430|0.96430	3.82|3.82	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	.|D	.|0.96333	.|0.9245	.|10	.|0.87932	.|D	.|0	-16.3222|-16.3222	17.7921|17.7921	0.88555|0.88555	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|185	.|Q93099	.|HGD_HUMAN	X|V	29|185	.|ENSP00000283871:G185V	.|ENSP00000283871:G185V	E|G	-|-	1|2	0|0	HGD|HGD	121847899|121847899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.977000|6.977000	0.76141|0.76141	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	GAA|GGA		PASS	0.483	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			6	110	6	110	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124385400	124385400	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:124385400C>T	ENST00000291478.5	+	13	1519	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	KALRN_ENST00000393496.1_Silent_p.L490L|KALRN_ENST00000459915.1_Silent_p.L241L|KALRN_ENST00000360013.3_Silent_p.L2149L|KALRN_ENST00000428018.2_Silent_p.L420L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2148					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L2149L(1)|p.L452L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGTGTTCCTCTTCGAGCAGA	0.542																																						uc003ehg.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(6445-6447)CTC>CTT		kalirin, RhoGEF kinase isoform 1							96.0	85.0	89.0					3																	124385400		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|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|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124385400C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.1356C>T	3.37:g.124385400C>T						KALRN_uc003ehi.2_Silent_p.L490L|KALRN_uc003ehk.2_Silent_p.L452L|KALRN_uc011bjz.1_Silent_p.L241L	p.L2149L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			46	6574	+			2148			PH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.6447C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117863	0.20877	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.15	2.13	0.27403	.	.	.	.	.	T	0.70272	0.3205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70799	-0.4774	4	.	.	.	.	16.4601	0.84033	0.0:0.4871:0.5128:0.0	.	.	.	.	F	2118	.	.	S	+	2	0	KALRN	125868090	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.888000	0.28268	0.697000	0.31718	0.563000	0.77884	TCT		PASS	0.542	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		14	80	14	80	---	---	---	---
RHO	6010	broad.mit.edu	37	3	129249756	129249756	+	Silent	SNP	C	C	T	rs372812523		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:129249756C>T	ENST00000296271.3	+	2	493	c.399C>T	c.(397-399)atC>atT	p.I133I		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	133					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)	p.I133I(1)		breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCCTGGCCATCGAGCGGTACG	0.622																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(397-399)ATC>ATT		rhodopsin	Halothane(DB01159)						257.0	204.0	222.0					3																	129249756		2203	4300	6503	SO:0001819	synonymous_variant	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129249756C>T	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.399C>T	3.37:g.129249756C>T							p.I133I	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	2	494	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	133			Helical; Name=3; (Potential).		Q16414|Q2M249	Silent	SNP	ENST00000296271.3	37	c.399C>T	CCDS3063.1																																																																																				PASS	0.622	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		5	236	5	236	---	---	---	---
ATP2C1	27032	broad.mit.edu	37	3	130682866	130682866	+	Silent	SNP	G	G	A	rs147959633		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:130682866G>A	ENST00000510168.1	+	13	1501	c.951G>A	c.(949-951)acG>acA	p.T317T	ATP2C1_ENST00000505330.1_Silent_p.T301T|ATP2C1_ENST00000508532.1_Silent_p.T317T|ATP2C1_ENST00000328560.8_Silent_p.T317T|ATP2C1_ENST00000504948.1_Silent_p.T301T|ATP2C1_ENST00000393221.4_Silent_p.T351T|ATP2C1_ENST00000507488.2_Silent_p.T301T|ATP2C1_ENST00000422190.2_Silent_p.T317T|ATP2C1_ENST00000513801.1_Silent_p.T301T|ATP2C1_ENST00000533801.2_Silent_p.T312T|ATP2C1_ENST00000504381.1_Silent_p.T262T|ATP2C1_ENST00000428331.2_Silent_p.T317T|ATP2C1_ENST00000359644.3_Silent_p.T317T			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	317					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.T317T(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCACAGTGACGCTAGCTCTTG	0.403									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(949-951)ACG>ACA		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	G	,,,,,,,,,,	0,4406		0,0,2203	196.0	190.0	192.0		951,951,951,951,1053,1053,936,903,903,951,951	-7.3	0.0	3	dbSNP_134	192	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ATP2C1	NM_001001485.2,NM_001001486.1,NM_001001487.1,NM_001199179.1,NM_001199180.1,NM_001199181.1,NM_001199182.1,NM_001199183.1,NM_001199184.1,NM_001199185.1,NM_014382.3	,,,,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,,,,	317/889,317/950,317/940,317/920,351/974,351/954,312/945,301/924,301/904,317/889,317/920	130682866	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130682866G>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.951G>A	3.37:g.130682866G>A						ATP2C1_uc011blg.1_Silent_p.T351T|ATP2C1_uc011blh.1_Silent_p.T312T|ATP2C1_uc011bli.1_Silent_p.T351T|ATP2C1_uc003enk.2_Silent_p.T301T|ATP2C1_uc003enm.2_Silent_p.T317T|ATP2C1_uc003enn.2_Silent_p.T301T|ATP2C1_uc003eno.2_Silent_p.T317T|ATP2C1_uc003enp.2_Silent_p.T317T|ATP2C1_uc003enq.2_Silent_p.T317T|ATP2C1_uc003enr.2_Silent_p.T317T|ATP2C1_uc003ens.2_Silent_p.T317T|ATP2C1_uc003ent.2_Silent_p.T317T|ATP2C1_uc003enu.2_5'UTR	p.T317T	NM_014382	NP_055197	P98194	AT2C1_HUMAN			13	1173	+			317			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.951G>A	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	7.037	0.561835	0.13498	0.0	2.33E-4	ENSG00000017260	ENST00000504612	.	.	.	5.85	-7.3	0.01446	.	.	.	.	.	T	0.33527	0.0866	.	.	.	0.53688	D	0.999976	.	.	.	.	.	.	T	0.39099	-0.9630	4	.	.	.	.	0.3631	0.00367	0.3056:0.1852:0.2666:0.2426	.	.	.	.	H	271	.	.	R	+	2	0	ATP2C1	132165556	0.012000	0.17670	0.007000	0.13788	0.927000	0.56198	-0.218000	0.09240	-1.673000	0.01462	-1.893000	0.00533	CGC		PASS	0.403	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		17	197	17	197	---	---	---	---
PLS1	5357	broad.mit.edu	37	3	142408474	142408474	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:142408474G>A	ENST00000337777.3	+	10	1209	c.996G>A	c.(994-996)ctG>ctA	p.L332L	PLS1_ENST00000457734.2_Silent_p.L332L|PLS1_ENST00000497002.1_Silent_p.L332L	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	332	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.					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.L332L(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CAAATGACCTGAAGCGTGCTG	0.338																																						uc010huv.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(994-996)CTG>CTA		plastin 1							77.0	71.0	73.0					3																	142408474		2203	4300	6503	SO:0001819	synonymous_variant	5357					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr3:142408474G>A	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.996G>A	3.37:g.142408474G>A						PLS1_uc003euz.2_Silent_p.L332L|PLS1_uc003eva.2_Silent_p.L332L	p.L332L	NM_001145319	NP_001138791	Q14651	PLSI_HUMAN			10	1155	+			332			Actin-binding 1.|CH 2.		A8K2Q1|D3DNG3|Q8NEG6	Silent	SNP	ENST00000337777.3	37	c.996G>A	CCDS3125.1																																																																																				PASS	0.338	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354435.1	NM_002670		20	73	20	73	---	---	---	---
SERP1	27230	broad.mit.edu	37	3	150263869	150263869	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:150263869G>A	ENST00000479209.1	-	2	1326	c.54C>T	c.(52-54)atC>atT	p.I18I	EIF2A_ENST00000406576.3_5'Flank|EIF2A_ENST00000273435.5_5'Flank|SERP1_ENST00000491660.1_Silent_p.I18I|SERP1_ENST00000239944.2_Silent_p.I18I|SERP1_ENST00000487153.1_Silent_p.I18I|EIF2A_ENST00000460851.1_5'Flank|EIF2A_ENST00000487799.1_5'Flank			Q9Y6X1	SERP1_HUMAN	stress-associated endoplasmic reticulum protein 1	18					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucose metabolic process (GO:0006006)|multicellular organismal aging (GO:0010259)|muscle organ morphogenesis (GO:0048644)|plasma membrane organization (GO:0007009)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of organ growth (GO:0046622)|positive regulation of translation (GO:0045727)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein transport (GO:0015031)|response to stress (GO:0006950)|skeletal system development (GO:0001501)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|ribosome (GO:0005840)		p.I18I(2)		large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGCGCTGGGTGATGTTCTTGC	0.677																																						uc003exy.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(52-54)ATC>ATT		stress-associated endoplasmic reticulum protein							189.0	136.0	154.0					3																	150263869		2203	4300	6503	SO:0001819	synonymous_variant	27230				plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome		g.chr3:150263869G>A	AK125413	CCDS3150.1	3q25.1	2007-12-07	2007-12-07		ENSG00000120742	ENSG00000120742			10759	protein-coding gene	gene with protein product	"""ribosome associated membrane protein 4"""					10601334, 11230166	Standard	NM_014445		Approved	RAMP4, FLJ43424	uc003exy.3	Q9Y6X1	OTTHUMG00000159769	ENST00000479209.1:c.54C>T	3.37:g.150263869G>A						SERP1_uc003exz.2_RNA|EIF2A_uc003eya.2_5'Flank|EIF2A_uc003eyb.2_5'Flank|EIF2A_uc003eyc.2_5'Flank|EIF2A_uc011bnv.1_5'Flank|EIF2A_uc011bnw.1_5'Flank	p.I18I	NM_014445	NP_055260	Q9Y6X1	SERP1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		1	560	-			18			Cytoplasmic (Potential).		D3DNI6	Silent	SNP	ENST00000479209.1	37	c.54C>T	CCDS3150.1																																																																																				PASS	0.677	SERP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357239.1	NM_014445		11	131	11	131	---	---	---	---
RSRC1	51319	broad.mit.edu	37	3	157839955	157839955	+	Missense_Mutation	SNP	G	G	A	rs143641214	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:157839955G>A	ENST00000295930.3	+	2	224	c.62G>A	c.(61-63)cGt>cAt	p.R21H	RSRC1_ENST00000480820.1_Missense_Mutation_p.R21H|RSRC1_ENST00000475278.2_Missense_Mutation_p.R21H|RSRC1_ENST00000464171.1_Missense_Mutation_p.R21H|RSRC1_ENST00000312179.6_Missense_Mutation_p.R21H	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	21	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)		p.R21H(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			AAGAAACACCGTAGACGGTCC	0.388													G|||	8	0.00159744	0.0	0.0086	5008	,	,		13392	0.0		0.001	False		,,,				2504	0.001					uc003fbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(61-63)CGT>CAT		arginine/serine-rich coiled-coil 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	93.0	92.0		62	3.9	0.7	3	dbSNP_134	92	15,8585	11.2+/-40.8	0,15,4285	yes	missense	RSRC1	NM_016625.2	29	0,16,6487	AA,AG,GG		0.1744,0.0227,0.123	benign	21/335	157839955	16,12990	2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157839955G>A	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.62G>A	3.37:g.157839955G>A	ENSP00000295930:p.Arg21His					RSRC1_uc011bou.1_Missense_Mutation_p.R21H|RSRC1_uc003fbu.1_Missense_Mutation_p.R21H|RSRC1_uc003fbv.2_Missense_Mutation_p.R21H	p.R21H	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		2	173	+			21			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.62G>A	CCDS3181.1	7	0.003205128205128205	0	0.0	6	0.016574585635359115	0	0.0	1	0.0013192612137203166	G	10.82	1.459582	0.26248	2.27E-4	0.001744	ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000464171;ENST00000312179;ENST00000475278;ENST00000476899	.	.	.	5.66	3.88	0.44766	.	0.050905	0.85682	N	0.000000	T	0.42787	0.1218	M	0.63843	1.955	0.44976	D	0.997999	B;B;B	0.17465	0.007;0.022;0.012	B;B;B	0.12837	0.002;0.008;0.005	T	0.52939	-0.8508	9	0.66056	D	0.02	.	12.2019	0.54331	0.1346:0.0:0.8654:0.0	.	21;21;21	B4DTW0;Q96IZ7-2;Q96IZ7	.;.;RSRC1_HUMAN	H	21	.	ENSP00000295930:R21H	R	+	2	0	RSRC1	159322649	1.000000	0.71417	0.720000	0.30636	0.006000	0.05464	6.640000	0.74319	0.763000	0.33175	-0.806000	0.03193	CGT		PASS	0.388	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		10	36	10	36	---	---	---	---
SI	6476	broad.mit.edu	37	3	164786883	164786883	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:164786883A>G	ENST00000264382.3	-	4	418	c.356T>C	c.(355-357)aTg>aCg	p.M119T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	119	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.M119T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGTTGTTGTCATGTCTTGAAC	0.378										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(355-357)ATG>ACG		sucrase-isomaltase	Acarbose(DB00284)						65.0	64.0	64.0					3																	164786883		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786883A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.356T>C	3.37:g.164786883A>G	ENSP00000264382:p.Met119Thr	HNSCC(35;0.089)					p.M119T	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	418	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	119			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.356T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	0.060	-1.227285	0.01518	.	.	ENSG00000090402	ENST00000264382	D	0.84730	-1.89	5.91	-11.8	0.00035	Glycoside hydrolase-type carbohydrate-binding (1);	3.476980	0.00559	N	0.000280	T	0.62196	0.2408	N	0.10733	0.035	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55749	-0.8092	10	0.28530	T	0.3	.	2.6141	0.04899	0.1124:0.3486:0.1904:0.3485	.	119	P14410	SUIS_HUMAN	T	119	ENSP00000264382:M119T	ENSP00000264382:M119T	M	-	2	0	SI	166269577	0.090000	0.21635	0.000000	0.03702	0.000000	0.00434	-0.732000	0.04904	-2.681000	0.00408	-6.792000	0.00000	ATG		PASS	0.378	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		25	48	25	48	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167183100	167183100	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:167183100C>G	ENST00000476257.1	-	6	1058	c.760G>C	c.(760-762)Gca>Cca	p.A254P	SERPINI2_ENST00000471111.1_Missense_Mutation_p.A254P|SERPINI2_ENST00000264677.4_Missense_Mutation_p.A254P|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A254P			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	254					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|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.A254P(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATACCTTCTGCAGGAAGTATG	0.343																																						uc003fer.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)	3						c.(760-762)GCA>CCA		serpin peptidase inhibitor, clade I (pancpin),							140.0	148.0	145.0					3																	167183100		2203	4300	6503	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183100C>G	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.760G>C	3.37:g.167183100C>G	ENSP00000420621:p.Ala254Pro					SERPINI2_uc003fes.1_Missense_Mutation_p.A264P|SERPINI2_uc003fet.1_Missense_Mutation_p.A254P	p.A254P	NM_006217	NP_006208	O75830	SPI2_HUMAN			4	818	-			254						Missense_Mutation	SNP	ENST00000476257.1	37	c.760G>C	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199207	0.38806	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.74	3.94	0.45596	Serpin domain (3);	0.299543	0.36444	N	0.002588	T	0.73544	0.3600	L	0.45137	1.4	0.28544	N	0.911981	P;P	0.51933	0.949;0.949	P;P	0.54815	0.761;0.659	T	0.65619	-0.6124	10	0.31617	T	0.26	.	8.9659	0.35877	0.0:0.7573:0.0:0.2427	.	254;254	B4DDY9;O75830	.;SPI2_HUMAN	P	254	ENSP00000420621:A254P;ENSP00000417692:A254P;ENSP00000264677:A254P;ENSP00000419407:A254P	ENSP00000264677:A254P	A	-	1	0	SERPINI2	168665794	0.859000	0.29813	0.951000	0.38953	0.409000	0.31022	0.327000	0.19663	0.764000	0.33197	0.655000	0.94253	GCA		PASS	0.343	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		40	229	40	229	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175473112	175473112	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:175473112G>C	ENST00000454872.1	+	13	2223	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	699						integral component of membrane (GO:0016021)		p.E699Q(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATCCCAAGGAGAGAGCACC	0.493																																						uc003fit.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2095-2097)GAG>CAG		N-acetylated alpha-linked acidic dipeptidase 2							78.0	76.0	77.0					3																	175473112		1961	4153	6114	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175473112G>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2095G>C	3.37:g.175473112G>C	ENSP00000404705:p.Glu699Gln						p.E699Q	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	13	2182	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	699			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.2095G>C	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.748473	0.69533	.	.	ENSG00000177694	ENST00000454872	T	0.30448	1.53	5.71	5.71	0.89125	Transferrin receptor-like, dimerisation domain (2);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.34521	1.04	0.46701	D	0.999167	D	0.89917	1.0	D	0.83275	0.996	T	0.18147	-1.0346	10	0.32370	T	0.25	-17.2355	19.8494	0.96733	0.0:0.0:1.0:0.0	.	699	Q58DX5	NADL2_HUMAN	Q	699	ENSP00000404705:E699Q	ENSP00000404705:E699Q	E	+	1	0	NAALADL2	176955806	1.000000	0.71417	0.999000	0.59377	0.650000	0.38633	9.130000	0.94437	2.694000	0.91930	0.591000	0.81541	GAG		PASS	0.493	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		11	44	11	44	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182923970	182923970	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:182923970C>A	ENST00000328913.3	-	24	3042	c.2745G>T	c.(2743-2745)agG>agT	p.R915S	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R915S|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	915	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R915S(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TATGGCTCCCCCTTCCAAGCT	0.423																																						uc003fli.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(2743-2745)AGG>AGT		Rho family guanine-nucleotide exchange factor							156.0	137.0	143.0					3																	182923970		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182923970C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2745G>T	3.37:g.182923970C>A	ENSP00000328118:p.Arg915Ser						p.R915S	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		24	2835	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		915			PH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2745G>T	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949363	0.53186	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.01838	4.61;4.62	4.28	2.45	0.29901	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.202639	0.40728	N	0.001024	T	0.03827	0.0108	L	0.48642	1.525	0.80722	D	1	P	0.47762	0.9	P	0.48815	0.591	T	0.49560	-0.8927	10	0.87932	D	0	.	7.0275	0.24948	0.0:0.787:0.0:0.213	.	915	Q86YR7	MF2L2_HUMAN	S	915	ENSP00000328118:R915S;ENSP00000420070:R915S	ENSP00000328118:R915S	R	-	3	2	MCF2L2	184406664	0.675000	0.27558	1.000000	0.80357	0.729000	0.41735	-0.957000	0.03861	0.544000	0.28883	0.563000	0.77884	AGG		PASS	0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		44	161	44	161	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183035889	183035889	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:183035889G>C	ENST00000328913.3	-	7	1017	c.720C>G	c.(718-720)ctC>ctG	p.L240L	MCF2L2_ENST00000414362.2_Silent_p.L240L|MCF2L2_ENST00000447025.2_Silent_p.L240L|MCF2L2_ENST00000473233.1_Silent_p.L240L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	240							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L240L(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTGGGACATGAGAAGGTCTT	0.597																																						uc003fli.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(718-720)CTC>CTG		Rho family guanine-nucleotide exchange factor							83.0	69.0	74.0					3																	183035889		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183035889G>C	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.720C>G	3.37:g.183035889G>C						MCF2L2_uc003flj.1_Silent_p.L240L|MCF2L2_uc003flp.1_Silent_p.L275L	p.L240L	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		7	810	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		240					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.720C>G	CCDS3243.1																																																																																				PASS	0.597	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		9	59	9	59	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183655773	183655773	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:183655773C>G	ENST00000334444.6	-	26	4010	c.3770G>C	c.(3769-3771)aGa>aCa	p.R1257T	ABCC5_ENST00000265586.6_Missense_Mutation_p.R1214T	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1257	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.R1257T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATCACTGATTCTCACTCCATC	0.532																																						uc003fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3769-3771)AGA>ACA		ATP-binding cassette, sub-family C, member 5							94.0	95.0	94.0					3																	183655773		2062	4210	6272	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655773C>G	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3770G>C	3.37:g.183655773C>G	ENSP00000333926:p.Arg1257Thr					ABCC5_uc011bqt.1_Missense_Mutation_p.R785T|ABCC5_uc010hxl.2_Missense_Mutation_p.R1214T	p.R1257T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	3935	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1257			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3770G>C	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858432	0.51376	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.90324	-2.65;-2.65	5.73	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.222293	0.47455	D	0.000233	T	0.81074	0.4747	N	0.16708	0.43	0.28400	N	0.918676	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.004	T	0.71241	-0.4651	10	0.66056	D	0.02	-17.1969	6.6324	0.22863	0.0:0.7498:0.0:0.2502	.	1214;1257	Q86UX3;O15440	.;MRP5_HUMAN	T	1257;1214	ENSP00000333926:R1257T;ENSP00000265586:R1214T	ENSP00000265586:R1214T	R	-	2	0	ABCC5	185138467	1.000000	0.71417	0.954000	0.39281	0.977000	0.68977	3.371000	0.52379	2.699000	0.92147	0.655000	0.94253	AGA		PASS	0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		14	180	14	180	---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184631309	184631309	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:184631309G>A	ENST00000437079.3	+	26	2320	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	VPS8_ENST00000446204.2_Missense_Mutation_p.E625K|VPS8_ENST00000436792.2_Missense_Mutation_p.E715K|VPS8_ENST00000287546.4_Missense_Mutation_p.E717K	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	717							zinc ion binding (GO:0008270)	p.E717K(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TATTTTAGATGAACAAGTTGT	0.254																																						uc003fpb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2143-2145)GAA>AAA		vacuolar protein sorting 8 homolog isoform b							108.0	105.0	106.0					3																	184631309		1794	4058	5852	SO:0001583	missense	23355						zinc ion binding	g.chr3:184631309G>A	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2149G>A	3.37:g.184631309G>A	ENSP00000397879:p.Glu717Lys					VPS8_uc010hyd.1_Missense_Mutation_p.E625K|VPS8_uc010hye.1_Missense_Mutation_p.E144K	p.E715K	NM_015303	NP_056118	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		25	2314	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		717					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2143G>A	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517079	0.44763	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.19806	2.12;2.12;2.12;2.13	5.02	5.02	0.67125	Quinonprotein alcohol dehydrogenase-like (1);	0.044157	0.85682	D	0.000000	T	0.22244	0.0536	L	0.47716	1.5	0.58432	D	0.999991	B;B;B	0.27013	0.166;0.104;0.138	B;B;B	0.31751	0.056;0.135;0.033	T	0.03717	-1.1010	10	0.13108	T	0.6	-22.4283	17.6289	0.88100	0.0:0.0:1.0:0.0	.	717;625;715	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	K	717;717;715;625	ENSP00000287546:E717K;ENSP00000397879:E717K;ENSP00000404704:E715K;ENSP00000405483:E625K	ENSP00000287546:E717K	E	+	1	0	VPS8	186114003	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.829000	0.75314	2.770000	0.95276	0.563000	0.77884	GAA		PASS	0.254	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		11	193	11	193	---	---	---	---
DNAJB11	51726	broad.mit.edu	37	3	186302269	186302269	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:186302269G>C	ENST00000439351.1	+	10	1832	c.903G>C	c.(901-903)aaG>aaC	p.K301N	DNAJB11_ENST00000265028.3_Missense_Mutation_p.K301N			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	301					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)		p.K301N(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGCTATGGAAGAAAGGGGAAG	0.443																																						uc003fqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(901-903)AAG>AAC		DnaJ (Hsp40) homolog, subfamily B, member 11							102.0	96.0	98.0					3																	186302269		2203	4300	6503	SO:0001583	missense	51726				protein folding	endoplasmic reticulum lumen	heat shock protein binding	g.chr3:186302269G>C	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.903G>C	3.37:g.186302269G>C	ENSP00000414398:p.Lys301Asn						p.K301N	NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)	9	1123	+	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		301					Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	ENST00000439351.1	37	c.903G>C	CCDS3277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.65|18.65	3.670197|3.670197	0.67814|0.67814	.|.	.|.	ENSG00000090520|ENSG00000090520	ENST00000418776|ENST00000439351;ENST00000265028	.|T;T	.|0.42131	.|0.98;0.98	6.08|6.08	2.93|2.93	0.34026|0.34026	.|Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66396|0.66396	0.2785|0.2785	M|M	0.92970|0.92970	3.365|3.365	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|D	.|0.66497	.|0.944	T|T	0.70015|0.70015	-0.4988|-0.4988	5|10	.|0.66056	.|D	.|0.02	-20.4406|-20.4406	8.3907|8.3907	0.32526|0.32526	0.3279:0.0:0.6721:0.0|0.3279:0.0:0.6721:0.0	.|.	.|301	.|Q9UBS4	.|DJB11_HUMAN	Q|N	102|301	.|ENSP00000414398:K301N;ENSP00000265028:K301N	.|ENSP00000265028:K301N	E|K	+|+	1|3	0|2	DNAJB11|DNAJB11	187784963|187784963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	2.764000|2.764000	0.47613|0.47613	0.915000|0.915000	0.36847|0.36847	0.655000|0.655000	0.94253|0.94253	GAA|AAG		PASS	0.443	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344779.1			4	87	4	87	---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193052756	193052756	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:193052756G>C	ENST00000342358.4	-	10	1193	c.1076C>G	c.(1075-1077)tCt>tGt	p.S359C		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	359						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.S359C(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)		CCCCTGCCCAGAGGGCTTGAC	0.463																																						uc011bsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(1075-1077)TCT>TGT		ATPase type 13A5							115.0	115.0	115.0					3																	193052756		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.chr3:193052756G>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.1076C>G	3.37:g.193052756G>C	ENSP00000341942:p.Ser359Cys						p.S359C	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)	10	1076	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		359					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.1076C>G	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553671	0.65425	.	.	ENSG00000187527	ENST00000342358	D	0.85861	-2.04	5.87	5.87	0.94306	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.240951	0.37136	N	0.002240	D	0.90068	0.6898	L	0.61218	1.895	0.37481	D	0.916018	D	0.59767	0.986	P	0.59115	0.852	D	0.90029	0.4133	10	0.40728	T	0.16	-18.533	18.7725	0.91898	0.0:0.0:1.0:0.0	.	359	Q4VNC0	AT135_HUMAN	C	359	ENSP00000341942:S359C	ENSP00000341942:S359C	S	-	2	0	ATP13A5	194535450	0.757000	0.28394	1.000000	0.80357	0.784000	0.44337	3.279000	0.51670	2.791000	0.96007	0.655000	0.94253	TCT		PASS	0.463	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		14	167	14	167	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193332589	193332589	+	Missense_Mutation	SNP	C	C	T	rs149756039		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr3:193332589C>T	ENST00000392438.3	+	2	344	c.110C>T	c.(109-111)tCa>tTa	p.S37L	OPA1_ENST00000361908.3_Missense_Mutation_p.S37L|OPA1_ENST00000361828.2_Missense_Mutation_p.S37L|OPA1_ENST00000361150.2_Missense_Mutation_p.S37L|OPA1_ENST00000361510.2_Missense_Mutation_p.S37L|OPA1_ENST00000361715.2_Missense_Mutation_p.S37L|OPA1_ENST00000487986.1_3'UTR	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	37					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.S37L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCTGGTTTCACGAAGCATT	0.383																																						uc003ftm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)TCA>TTA		optic atrophy 1 isoform 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	117.0	104.0	108.0		110,110,110,110,110,110,110,110	6.0	1.0	3	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense	OPA1	NM_015560.2,NM_130831.2,NM_130832.2,NM_130833.2,NM_130834.2,NM_130835.2,NM_130836.2,NM_130837.2	145,145,145,145,145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	37/961,37/925,37/943,37/962,37/979,37/980,37/998,37/1016	193332589	1,13005	2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332589C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.110C>T	3.37:g.193332589C>T	ENSP00000376233:p.Ser37Leu					OPA1_uc003ftg.2_Missense_Mutation_p.S37L|OPA1_uc003fth.2_Missense_Mutation_p.S37L|OPA1_uc003fti.2_Missense_Mutation_p.S37L|OPA1_uc003ftj.2_Missense_Mutation_p.S37L|OPA1_uc003ftk.2_Missense_Mutation_p.S37L|OPA1_uc003ftl.2_Missense_Mutation_p.S37L|OPA1_uc003ftn.2_Missense_Mutation_p.S37L	p.S37L	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	344	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		37					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.110C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246523	0.95305	0.0	1.16E-4	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000392437;ENST00000392436	D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.98	5.98	0.97165	.	0.129731	0.53938	D	0.000049	D	0.91290	0.7254	L	0.59436	1.845	0.58432	D	0.999997	B;D;B;B;P;B;B;P	0.54601	0.18;0.967;0.281;0.139;0.501;0.421;0.421;0.799	B;P;B;B;B;B;B;B	0.60789	0.06;0.879;0.04;0.037;0.086;0.056;0.083;0.214	D	0.90077	0.4167	10	0.42905	T	0.14	-10.9849	17.6141	0.88063	0.0:1.0:0.0:0.0	.	37;37;37;37;37;37;37;37	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	L	37	ENSP00000354681:S37L;ENSP00000376233:S37L;ENSP00000355324:S37L;ENSP00000355311:S37L;ENSP00000354429:S37L;ENSP00000354781:S37L;ENSP00000376232:S37L;ENSP00000376231:S37L	ENSP00000354781:S37L	S	+	2	0	OPA1	194815283	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.338000	0.72963	2.835000	0.97688	0.650000	0.86243	TCA		PASS	0.383	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		21	85	21	85	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42558042	42558042	+	Silent	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:42558042A>G	ENST00000381668.5	-	16	1587	c.1356T>C	c.(1354-1356)ttT>ttC	p.F452F	ATP8A1_ENST00000264449.10_Silent_p.F437F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	452					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F437F(1)|p.F452F(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTCATCTCCAAACTGTGAGT	0.318																																						uc003gwr.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(1354-1356)TTT>TTC		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						67.0	65.0	66.0					4																	42558042		2203	4299	6502	SO:0001819	synonymous_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42558042A>G	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1356T>C	4.37:g.42558042A>G						ATP8A1_uc003gws.2_Silent_p.F437F|ATP8A1_uc011byz.1_Silent_p.F437F	p.F452F	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			16	1588	-			452			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	c.1356T>C	CCDS3466.1																																																																																				PASS	0.318	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		6	28	6	28	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46099262	46099262	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:46099262G>A	ENST00000295452.4	-	2	376	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	70					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.S70L(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGAAGCAATGAATTCAGAAT	0.383																																						uc003gxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(208-210)TCA>TTA		gamma-aminobutyric acid A receptor, gamma 1							174.0	171.0	172.0					4																	46099262		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099262G>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.209C>T	4.37:g.46099262G>A	ENSP00000295452:p.Ser70Leu						p.S70L	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	361	-			70			Extracellular (Probable).		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.209C>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720252	0.48728	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.79454	-1.27	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel ligand-binding (3);	0.309004	0.31415	N	0.007700	T	0.77631	0.4159	L	0.51422	1.61	0.38106	D	0.937407	P	0.41188	0.741	P	0.46208	0.507	T	0.81302	-0.0994	10	0.59425	D	0.04	.	13.3779	0.60750	0.0:0.1577:0.8423:0.0	.	70	Q8N1C3	GBRG1_HUMAN	L	70	ENSP00000295452:S70L	ENSP00000295452:S70L	S	-	2	0	GABRG1	45794019	1.000000	0.71417	0.949000	0.38748	0.634000	0.38068	3.350000	0.52224	2.627000	0.88993	0.655000	0.94253	TCA		PASS	0.383	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		49	123	49	123	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49009279	49009279	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:49009279G>A	ENST00000226432.4	+	8	1305	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	CWH43_ENST00000513409.1_Silent_p.L347L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	374					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.L374L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ACCTTGACTTGCTTCTTCAAA	0.284																																						uc003gyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1120-1122)TTG>TTA		cell wall biogenesis 43 C-terminal homolog							94.0	95.0	95.0					4																	49009279		2202	4299	6501	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49009279G>A		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1122G>A	4.37:g.49009279G>A						CWH43_uc011bzl.1_Silent_p.L347L	p.L374L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			8	1304	+			374					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1122G>A	CCDS3486.1																																																																																				PASS	0.284	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		19	33	19	33	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55964928	55964929	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:55964928_55964929CC>AA	ENST00000263923.4	-	16	2603_2604	c.2308_2309GG>TT	c.(2308-2310)GGc>TTc	p.G770F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	770					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G770C(1)|p.G770F(1)|p.G770V(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCGCCGTGCCTACTAGAATA	0.411			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		3	Substitution - Missense(3)		lung(3)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2308-2310)GGC>GTC|c.(2308-2310)GGC>TGC		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964928C>A|g.chr4:55964929C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2308_2309delinsAA	4.37:g.55964928_55964929delinsAA	ENSP00000263923:p.Gly770Phe	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.G770V|KDR_uc003hat.1_Missense_Mutation_p.G770C	p.G770V|p.G770C	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		16	2611|2610	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		770			Helical; (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2309G>T|c.2308G>T	CCDS3497.1																																																																																				PASS	0.411	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			33|32	101	32	101	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62598726	62598726	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:62598726G>T	ENST00000514591.1	+	7	978	c.649G>T	c.(649-651)Gct>Tct	p.A217S	LPHN3_ENST00000511324.1_Missense_Mutation_p.A285S|LPHN3_ENST00000545650.1_Missense_Mutation_p.A217S|LPHN3_ENST00000507164.1_Missense_Mutation_p.A285S|LPHN3_ENST00000506746.1_Missense_Mutation_p.A285S|LPHN3_ENST00000508693.1_Missense_Mutation_p.A285S|LPHN3_ENST00000514157.1_Missense_Mutation_p.A217S|LPHN3_ENST00000514996.1_Missense_Mutation_p.A217S|LPHN3_ENST00000504896.1_Missense_Mutation_p.A217S|LPHN3_ENST00000507625.1_Missense_Mutation_p.A285S|LPHN3_ENST00000509896.1_Missense_Mutation_p.A285S|LPHN3_ENST00000506700.1_Missense_Mutation_p.A217S|LPHN3_ENST00000506720.1_Missense_Mutation_p.A285S|LPHN3_ENST00000512091.2_Missense_Mutation_p.A217S|LPHN3_ENST00000508946.1_Missense_Mutation_p.A217S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	217	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.A217S(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTATGATGGAGCTTTGTTCTT	0.438																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(649-651)GCT>TCT		latrophilin 3 precursor							84.0	78.0	80.0					4																	62598726		1906	4120	6026	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598726G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.649G>T	4.37:g.62598726G>T	ENSP00000422533:p.Ala217Ser					LPHN3_uc003hcq.3_Missense_Mutation_p.A217S|LPHN3_uc010ihg.1_Missense_Mutation_p.A285S|LPHN3_uc003hcs.1_Missense_Mutation_p.A46S	p.A217S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			5	822	+			217			Extracellular (Potential).|Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.649G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148274	0.78001	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76;-2.76	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92296	0.7556	L	0.28115	0.83	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.99	D;D;D	0.83275	0.996;0.996;0.98	D	0.93502	0.6845	10	0.72032	D	0.01	.	17.8426	0.88719	0.0:0.0:1.0:0.0	.	217;285;217	E9PE04;E7EN28;Q9HAR2-2	.;.;.	S	217;217;285;285;217;217;217;217;217;285;285;285;217;217;217;285;285;217	ENSP00000423388:A217S;ENSP00000422533:A217S;ENSP00000423787:A285S;ENSP00000425033:A285S;ENSP00000424120:A217S;ENSP00000439831:A217S;ENSP00000421476:A285S;ENSP00000424030:A285S;ENSP00000421372:A285S;ENSP00000425201:A217S;ENSP00000423434:A217S;ENSP00000421627:A217S;ENSP00000420931:A285S;ENSP00000425884:A285S;ENSP00000424258:A217S	ENSP00000280009:A217S	A	+	1	0	LPHN3	62281321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.863000	0.87023	2.458000	0.83093	0.557000	0.71058	GCT		PASS	0.438	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			20	45	20	45	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79391175	79391176	+	Missense_Mutation	DNP	CG	CG	TT	rs377435736|rs566641641		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:79391175_79391176CG>TT	ENST00000264895.6	+	51	7741_7742	c.7301_7302CG>TT	c.(7300-7302)cCG>cTT	p.P2434L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2434					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.P2435L(2)|p.P2434L(2)|p.P2435P(1)|p.P2434P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACATCCTCCCGGTAGATGATG	0.51																																						uc003hlb.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	large_intestine(5)	5						c.(7300-7302)CCG>CTG|c.(7300-7302)CCG>CCT		Fraser syndrome 1																																				SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79391175C>T|g.chr4:79391176G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	Exception_encountered	4.37:g.79391175_79391176delinsTT	ENSP00000264895:p.Pro2434Leu						p.P2434L|p.P2434P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			51	7741|7742	+			2433			CSPG 12.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation|Silent	SNP	ENST00000264895.6	37	c.7301C>T|c.7302G>T	CCDS54771.1																																																																																				PASS	0.510	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	34|35	9	34	---	---	---	---
DMP1	1758	broad.mit.edu	37	4	88578214	88578214	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:88578214G>T	ENST00000339673.6	+	3	184	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506814.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.D29Y	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	29					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.D29Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGAATCTGAGGATTCTGAAGA	0.254																																						uc003hqv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(85-87)GAT>TAT		dentin matrix acidic phosphoprotein 1 isoform 1							55.0	58.0	57.0					4																	88578214		2191	4294	6485	SO:0001583	missense	1758				biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	g.chr4:88578214G>T	U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.85G>T	4.37:g.88578214G>T	ENSP00000340935:p.Asp29Tyr					DMP1_uc003hqw.2_Missense_Mutation_p.D29Y	p.D29Y	NM_004407	NP_004398	Q13316	DMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000516)	3	189	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)	29					A1L4L3|O43265	Missense_Mutation	SNP	ENST00000339673.6	37	c.85G>T	CCDS3623.1	.	.	.	.	.	.	.	.	.	.	G	2.468	-0.322587	0.05350	.	.	ENSG00000152592	ENST00000339673;ENST00000282479	T;T	0.48201	0.82;0.82	5.67	1.87	0.25490	.	0.326248	0.30492	N	0.009514	T	0.23171	0.0560	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.08055	0.002;0.003	T	0.16012	-1.0417	10	0.87932	D	0	0.9125	4.7049	0.12844	0.6694:0.1618:0.1688:0.0	.	29;29	Q13316-2;Q13316	.;DMP1_HUMAN	Y	29	ENSP00000340935:D29Y;ENSP00000282479:D29Y	ENSP00000282479:D29Y	D	+	1	0	DMP1	88797238	0.986000	0.35501	0.007000	0.13788	0.004000	0.04260	2.969000	0.49232	0.100000	0.17581	-1.480000	0.00990	GAT		PASS	0.254	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1			22	35	22	35	---	---	---	---
TSPAN5	10098	broad.mit.edu	37	4	99403249	99403249	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:99403249G>C	ENST00000305798.3	-	4	759	c.357C>G	c.(355-357)atC>atG	p.I119M	TSPAN5_ENST00000505184.1_Missense_Mutation_p.I48M|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	119					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)	p.I119M(1)		kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GCTGGTCTTTGATCCAGTCTT	0.378																																						uc003hub.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)ATC>ATG		transmembrane 4 superfamily member 9							118.0	121.0	120.0					4																	99403249		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99403249G>C		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.357C>G	4.37:g.99403249G>C	ENSP00000307701:p.Ile119Met					TSPAN5_uc011cdz.1_Missense_Mutation_p.I48M	p.I119M	NM_005723	NP_005714	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	4	707	-			119			Extracellular (Potential).		B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.357C>G	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182952	0.57800	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287;ENST00000511651	D;D;D;T	0.89123	-2.47;-2.47;-2.47;-1.33	5.94	5.94	0.96194	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.92202	0.7527	M	0.63169	1.94	0.80722	D	1	D	0.63880	0.993	D	0.69142	0.962	D	0.91550	0.5256	10	0.54805	T	0.06	.	9.9737	0.41770	0.0692:0.0:0.792:0.1388	.	119	P62079	TSN5_HUMAN	M	119;48;48;48	ENSP00000307701:I119M;ENSP00000423916:I48M;ENSP00000423504:I48M;ENSP00000426248:I48M	ENSP00000307701:I119M	I	-	3	3	TSPAN5	99622272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.744000	0.38268	2.820000	0.97059	0.650000	0.86243	ATC		PASS	0.378	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		3	119	3	119	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134075499	134075499	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:134075499A>T	ENST00000264360.5	+	2	3495	c.2669A>T	c.(2668-2670)gAc>gTc	p.D890V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	890					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D890V(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TATCTAGTTGACAGACCTCGC	0.373																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2668-2670)GAC>GTC		protocadherin 10 isoform 1 precursor							78.0	76.0	77.0					4																	134075499		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134075499A>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2669A>T	4.37:g.134075499A>T	ENSP00000264360:p.Asp890Val						p.D890V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	2	3495	+			890			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2669A>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	16.66	3.183706	0.57800	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55588	0.51	5.95	5.95	0.96441	.	0.000000	0.45361	D	0.000374	T	0.51024	0.1650	L	0.27053	0.805	0.80722	D	1	D	0.53619	0.961	P	0.49637	0.617	T	0.54912	-0.8222	10	0.62326	D	0.03	.	16.0852	0.81042	1.0:0.0:0.0:0.0	.	890	Q9P2E7	PCD10_HUMAN	V	890	ENSP00000264360:D890V	ENSP00000264360:D890V	D	+	2	0	PCDH10	134294949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	GAC		PASS	0.373	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		12	26	12	26	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151392889	151392889	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:151392889C>T	ENST00000357115.3	-	44	6830	c.6587G>A	c.(6586-6588)cGt>cAt	p.R2196H	LRBA_ENST00000535741.1_Missense_Mutation_p.R2185H|LRBA_ENST00000507224.1_Missense_Mutation_p.R2185H|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.R2185H	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2196						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R2196H(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAATGAAATACGTCTGCAAGA	0.308																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(6586-6588)CGT>CAT		LPS-responsive vesicle trafficking, beach and							87.0	88.0	88.0					4																	151392889		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151392889C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6587G>A	4.37:g.151392889C>T	ENSP00000349629:p.Arg2196His					LRBA_uc003ils.3_Missense_Mutation_p.R86H|LRBA_uc003ilt.3_Missense_Mutation_p.R844H|LRBA_uc003ilu.3_Missense_Mutation_p.R2185H	p.R2196H	NM_006726	NP_006717	P50851	LRBA_HUMAN			44	7061	-	all_hematologic(180;0.151)		2196					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6587G>A	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.134323|5.134323	0.94517|0.94517	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06|.	5.28|5.28	5.28|5.28	0.74379|0.74379	BEACH domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77412|0.77412	0.4126|0.4126	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;B;D|.	0.89917|.	0.999;0.394;1.0|.	D;B;D|.	0.80764|.	0.954;0.115;0.994|.	T|T	0.77616|0.77616	-0.2521|-0.2521	10|5	0.54805|.	T|.	0.06|.	.|.	18.0374|18.0374	0.89308|0.89308	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2196;2185;86|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	H|I	2185;2185;2196;2185|838	ENSP00000446299:R2185H;ENSP00000421552:R2185H;ENSP00000349629:R2196H;ENSP00000422180:R2185H|.	ENSP00000349629:R2196H|.	R|V	-|-	2|1	0|0	LRBA|LRBA	151612339|151612339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.964000|0.964000	0.63967|0.63967	7.590000|7.590000	0.82653|0.82653	2.608000|2.608000	0.88229|0.88229	0.650000|0.650000	0.86243|0.86243	CGT|GTA		PASS	0.308	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			18	62	18	62	---	---	---	---
TLR2	7097	broad.mit.edu	37	4	154624805	154624805	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:154624805C>T	ENST00000260010.6	+	1	2154	c.746C>T	c.(745-747)tCa>tTa	p.S249L		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	249					apoptotic process (GO:0006915)|cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to peptidoglycan (GO:0071224)|cellular response to triacyl bacterial lipopeptide (GO:0071727)|central nervous system myelin formation (GO:0032289)|chloramphenicol transport (GO:0042892)|defense response to Gram-positive bacterium (GO:0050830)|detection of diacyl bacterial lipopeptide (GO:0042496)|detection of triacyl bacterial lipopeptide (GO:0042495)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|induction by symbiont of defense-related host nitric oxide production (GO:0052063)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukotriene metabolic process (GO:0006691)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-17 production (GO:0032700)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-beta production (GO:0032728)|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 leukocyte migration (GO:0002687)|positive regulation of macrophage cytokine production (GO:0060907)|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 biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of oligodendrocyte differentiation (GO:0048714)|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 biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of Wnt signaling pathway (GO:0030177)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to molecule of fungal origin (GO:0002238)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell body (GO:0044297)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopolysaccharide receptor activity (GO:0001875)|lipoteichoic acid binding (GO:0070891)|peptidoglycan binding (GO:0042834)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)|triacyl lipopeptide binding (GO:0042497)	p.S249L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)			OspA lipoprotein(DB00045)	GAAACAAATTCATTGATTAAA	0.313																																						uc003inq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(745-747)TCA>TTA		toll-like receptor 2 precursor							43.0	43.0	43.0					4																	154624805		2202	4300	6502	SO:0001583	missense	7097				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta 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 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|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	g.chr4:154624805C>T	U88878	CCDS3784.1	4q32	2008-02-05				ENSG00000137462		"""CD molecules"""	11848	protein-coding gene	gene with protein product		603028				9435236	Standard	XM_005263193		Approved	TIL4, CD282	uc003inq.3	O60603		ENST00000260010.6:c.746C>T	4.37:g.154624805C>T	ENSP00000260010:p.Ser249Leu					TLR2_uc003inr.2_Missense_Mutation_p.S249L|TLR2_uc003ins.2_Missense_Mutation_p.S249L	p.S249L	NM_003264	NP_003255	O60603	TLR2_HUMAN			3	965	+	all_hematologic(180;0.093)	Renal(120;0.117)	249			Extracellular (Potential).		B3Y612|D1CS45|D1CS48|D1CS49|O15454|Q8NI00	Missense_Mutation	SNP	ENST00000260010.6	37	c.746C>T	CCDS3784.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614369	0.28712	.	.	ENSG00000137462	ENST00000260010	T	0.53640	0.61	5.61	5.61	0.85477	.	0.841152	0.10991	N	0.611591	T	0.31702	0.0805	N	0.04508	-0.205	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.20672	-1.0268	10	0.40728	T	0.16	.	17.1564	0.86792	0.0:1.0:0.0:0.0	.	249	O60603	TLR2_HUMAN	L	249	ENSP00000260010:S249L	ENSP00000260010:S249L	S	+	2	0	TLR2	154844255	0.001000	0.12720	0.007000	0.13788	0.685000	0.39939	0.858000	0.27845	2.802000	0.96397	0.655000	0.94253	TCA		PASS	0.313	TLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365205.1			17	25	17	25	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155219363	155219363	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:155219363C>T	ENST00000357232.4	-	18	4737	c.4738G>A	c.(4738-4740)Gat>Aat	p.D1580N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1580	Cadherin 13. {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.D1580N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAACTGGATCATTGTCATTA	0.443																																						uc003inw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(4738-4740)GAT>AAT		dachsous 2 isoform 1							108.0	106.0	106.0					4																	155219363		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155219363C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4738G>A	4.37:g.155219363C>T	ENSP00000349768:p.Asp1580Asn						p.D1580N	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	18	4738	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1580			Cadherin 13.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.4738G>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	3.087	-0.187804	0.06299	.	.	ENSG00000197410	ENST00000357232	T	0.60548	0.18	5.66	1.23	0.21249	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.558621	0.18615	N	0.136056	T	0.31071	0.0785	N	0.05574	-0.02	0.09310	N	0.999998	B	0.10296	0.003	B	0.08055	0.003	T	0.17349	-1.0372	10	0.17369	T	0.5	.	9.016	0.36170	0.0:0.4978:0.0:0.5022	.	1580	Q6V1P9	PCD23_HUMAN	N	1580	ENSP00000349768:D1580N	ENSP00000349768:D1580N	D	-	1	0	DCHS2	155438813	0.000000	0.05858	0.982000	0.44146	0.867000	0.49689	-0.443000	0.06862	0.365000	0.24400	-0.355000	0.07637	GAT		PASS	0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		26	32	26	32	---	---	---	---
TKTL2	84076	broad.mit.edu	37	4	164393542	164393543	+	Missense_Mutation	DNP	CA	CA	AG	rs114733407	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:164393542_164393543CA>AG	ENST00000280605.3	-	1	1504_1505	c.1344_1345TG>CT	c.(1342-1347)acTGtt>acCTtt	p.V449F		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	449						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.V449F(2)|p.T448T(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)				GGATAGAAAACAGTACAATTGG	0.49																																						uc003iqp.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(2)|pancreas(1)	5						c.(1345-1347)GTT>TTT|c.(1342-1344)ACT>ACC		transketolase-like 2																																				SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393542C>A|g.chr4:164393543A>G	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.1344_1345delinsAG	4.37:g.164393542_164393543delinsAG	ENSP00000280605:p.Val449Phe						p.V449F|p.T448T	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1506|1505	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	449|448					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation|Silent	SNP	ENST00000280605.3	37	c.1345G>T|c.1344T>C	CCDS3805.1																																																																																				PASS	0.490	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		33|34	75|73	33	73	---	---	---	---
STOX2	56977	broad.mit.edu	37	4	184931549	184931549	+	Missense_Mutation	SNP	G	G	C	rs201109995		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:184931549G>C	ENST00000308497.4	+	3	2993	c.1558G>C	c.(1558-1560)Gac>Cac	p.D520H	STOX2_ENST00000438269.1_Missense_Mutation_p.D520H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	520					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.D520H(1)|p.D544H(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGCCAAGACGACCAGACCCC	0.532																																						uc003ivz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1558-1560)GAC>CAC		storkhead box 2							42.0	46.0	44.0					4																	184931549		1973	4161	6134	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931549G>C	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1558G>C	4.37:g.184931549G>C	ENSP00000311257:p.Asp520His					STOX2_uc003iwa.1_Missense_Mutation_p.D209H	p.D520H	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2993	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	520					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1558G>C	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231063	0.58777	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	4.72	0.59763	.	0.188196	0.56097	D	0.000021	T	0.77329	0.4114	L	0.27053	0.805	0.52099	D	0.999946	P;B	0.41131	0.739;0.312	P;B	0.47626	0.552;0.35	T	0.79876	-0.1618	10	0.66056	D	0.02	-25.2666	14.2871	0.66254	0.0756:0.0:0.9244:0.0	.	520;520	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	H	520	ENSP00000311257:D520H;ENSP00000390127:D520H	ENSP00000311257:D520H	D	+	1	0	STOX2	185168543	1.000000	0.71417	0.938000	0.37757	0.941000	0.58515	6.225000	0.72271	1.463000	0.47967	0.655000	0.94253	GAC		PASS	0.532	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		9	25	9	25	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541760	187541760	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr4:187541760C>T	ENST00000441802.2	-	10	6189	c.5980G>A	c.(5980-5982)Gag>Aag	p.E1994K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1994	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E1994K(1)|p.E1997K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTTTCGGCCTCGGTGGAATTC	0.418										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(5980-5982)GAG>AAG		FAT tumor suppressor 1 precursor							222.0	222.0	222.0					4																	187541760		1860	4100	5960	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541760C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5980G>A	4.37:g.187541760C>T	ENSP00000406229:p.Glu1994Lys	HNSCC(5;0.00058)					p.E1994K	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6168	-			1994			Extracellular (Potential).|Cadherin 18.			Missense_Mutation	SNP	ENST00000441802.2	37	c.5980G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	6.837	0.523622	0.13066	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51325	0.71	5.26	5.26	0.73747	Cadherin (3);Cadherin-like (1);	0.094023	0.64402	D	0.000001	T	0.25531	0.0621	N	0.20304	0.555	0.58432	D	0.999999	B	0.30851	0.297	B	0.25614	0.062	T	0.11227	-1.0596	10	0.06099	T	0.92	.	9.6358	0.39806	0.0:0.8474:0.0:0.1526	.	1994	Q14517	FAT1_HUMAN	K	1994;1996	ENSP00000406229:E1994K	ENSP00000260147:E1996K	E	-	1	0	FAT1	187778754	0.995000	0.38212	0.961000	0.40146	0.261000	0.26267	3.234000	0.51320	2.740000	0.93945	0.561000	0.74099	GAG		PASS	0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		56	396	56	396	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1394869	1394869	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:1394869C>G	ENST00000270349.9	-	15	1971	c.1844G>C	c.(1843-1845)cGc>cCc	p.R615P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R615P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	615					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)	p.R615P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GAGCCAGTGGCGGAGCTGGAA	0.522																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(1843-1845)CGC>CCC		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						101.0	100.0	100.0					5																	1394869		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1394869C>G		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1844G>C	5.37:g.1394869C>G	ENSP00000270349:p.Arg615Pro						p.R615P	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		15	1965	-			615			Cytoplasmic (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1844G>C	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.233188	0.39498	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74842	-0.88;-0.88	4.79	2.97	0.34412	.	0.585459	0.14305	N	0.328004	T	0.66674	0.2813	N	0.19112	0.55	0.34105	D	0.662331	P	0.47545	0.897	P	0.51415	0.669	T	0.72782	-0.4189	10	0.72032	D	0.01	.	6.8118	0.23809	0.0:0.7896:0.0:0.2104	.	615	Q01959	SC6A3_HUMAN	P	615	ENSP00000270349:R615P;ENSP00000399806:R615P	ENSP00000270349:R615P	R	-	2	0	SLC6A3	1447869	1.000000	0.71417	0.999000	0.59377	0.917000	0.54804	0.574000	0.23714	1.139000	0.42245	0.655000	0.94253	CGC		PASS	0.522	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		43	186	43	186	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9202090	9202090	+	Silent	SNP	G	G	A	rs144446567	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:9202090G>A	ENST00000382496.5	-	9	1574	c.909C>T	c.(907-909)atC>atT	p.I303I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	303	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.I303I(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGATGCCATAGATCAAATCCA	0.438													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17075	0.0		0.0	False		,,,				2504	0.0					uc003jek.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(907-909)ATC>ATT		semaphorin 5A precursor		G		19,4387	27.2+/-55.0	0,19,2184	64.0	63.0	63.0		909	5.0	1.0	5	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	SEMA5A	NM_003966.2		0,19,6484	AA,AG,GG		0.0,0.4312,0.1461		303/1075	9202090	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9202090G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.909C>T	5.37:g.9202090G>A							p.I303I	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			9	1621	-			303			Sema.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.909C>T	CCDS3875.1																																																																																				PASS	0.438	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			6	91	6	91	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21854886	21854886	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:21854886G>A	ENST00000382254.1	-	7	1626	c.540C>T	c.(538-540)ctC>ctT	p.L180L	CDH12_ENST00000504376.2_Silent_p.L180L|CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	180	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L180L(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						CCTTGACCTGGAGTACATATG	0.418										HNSCC(59;0.17)																												uc010iuc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(538-540)CTC>CTT		cadherin 12, type 2 preproprotein							107.0	99.0	101.0					5																	21854886		2203	4299	6502	SO:0001819	synonymous_variant	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21854886G>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.540C>T	5.37:g.21854886G>A		HNSCC(59;0.17)				CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Silent_p.L180L	p.L180L	NM_004061	NP_004052	P55289	CAD12_HUMAN			4	998	-			180			Extracellular (Potential).|Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	37	c.540C>T	CCDS3890.1																																																																																				PASS	0.418	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		10	99	10	99	---	---	---	---
AMACR	23600	broad.mit.edu	37	5	33989607	33989607	+	Splice_Site	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:33989607C>A	ENST00000335606.6	-	5	828	c.740G>T	c.(739-741)gGa>gTa	p.G247V	AMACR_ENST00000382072.2_Splice_Site_p.R193S|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Splice_Site_p.G247V|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000502637.1_Splice_Site_p.G232V	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	247					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.G247V(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TAGTCCAAGTCCTGAGGAAAA	0.353																																						uc003jig.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GGA>GTA		alpha-methylacyl-CoA racemase isoform 1							38.0	39.0	39.0					5																	33989607		2203	4300	6503	SO:0001630	splice_region_variant	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:33989607C>A	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.740-1G>T	5.37:g.33989607C>A						AMACR_uc003jih.2_Missense_Mutation_p.R193S|AMACR_uc003jii.2_Missense_Mutation_p.G232V|AMACR_uc003jij.2_Missense_Mutation_p.G247V	p.G247V	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			5	822	-			247					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.740G>T	CCDS3902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.465695|3.465695	0.63513|0.63513	.|.	.|.	ENSG00000242110|ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637|ENST00000382072	T;T;T|T	0.44482|0.67698	0.92;0.92;0.92|-0.28	5.84|5.84	5.84|5.84	0.93424|0.93424	CoA-transferase family III domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66346|0.66346	0.2780|0.2780	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	P;P;P|P	0.40066|0.41848	0.694;0.701;0.701|0.763	B;B;B|B	0.40410|0.37144	0.328;0.285;0.285|0.242	T|T	0.64118|0.64118	-0.6482|-0.6482	10|9	0.52906|0.17832	T|T	0.07|0.49	.|.	20.5224|20.5224	0.99228|0.99228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	247;232;247|193	F8W9N1;D6RB81;Q9UHK6|Q9UHK6-4	.;.;AMACR_HUMAN|.	V|S	247;247;232|193	ENSP00000334424:G247V;ENSP00000371517:G247V;ENSP00000424351:G232V|ENSP00000371504:R193S	ENSP00000334424:G247V|ENSP00000371504:R193S	G|R	-|-	2|3	0|2	AMACR|AMACR	34025364|34025364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.720000|0.720000	0.41350|0.41350	7.489000|7.489000	0.81451|0.81451	2.927000|2.927000	0.99377|0.99377	0.637000|0.637000	0.83480|0.83480	GGA|AGG		PASS	0.353	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324	Missense_Mutation	10	56	10	56	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34796083	34796083	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:34796083C>G	ENST00000265109.3	+	4	494	c.207C>G	c.(205-207)ctC>ctG	p.L69L	RAI14_ENST00000506376.1_Silent_p.L61L|RAI14_ENST00000512629.1_Silent_p.L69L|RAI14_ENST00000503673.1_Silent_p.L69L|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000428746.2_Silent_p.L69L|RAI14_ENST00000397449.1_Silent_p.L62L|RAI14_ENST00000515799.1_Silent_p.L72L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	69						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L69L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGGAATGCCTCAGGGTCATGA	0.438																																						uc003jir.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(205-207)CTC>CTG		retinoic acid induced 14 isoform a							217.0	189.0	199.0					5																	34796083		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34796083C>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.207C>G	5.37:g.34796083C>G						RAI14_uc010iur.2_Silent_p.L69L|RAI14_uc011coj.1_Silent_p.L69L|RAI14_uc010ius.1_5'UTR|RAI14_uc003jis.2_Silent_p.L72L|RAI14_uc003jit.2_Silent_p.L69L|RAI14_uc011cok.1_Silent_p.L61L	p.L69L	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			4	403	+	all_lung(31;0.000191)		69			ANK 2.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.207C>G	CCDS34142.1																																																																																				PASS	0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		7	320	7	320	---	---	---	---
SPEF2	79925	broad.mit.edu	37	5	35712973	35712973	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:35712973G>T	ENST00000356031.3	+	20	3053	c.2899G>T	c.(2899-2901)Gca>Tca	p.A967S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.A962S	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	967					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.A967S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGTGAGACCGCACTCAAAAG	0.333																																						uc003jjo.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2899-2901)GCA>TCA		KPL2 protein isoform 1							77.0	76.0	76.0					5																	35712973		1809	4074	5883	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35712973G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2899G>T	5.37:g.35712973G>T	ENSP00000348314:p.Ala967Ser					SPEF2_uc003jjp.1_Missense_Mutation_p.A453S	p.A967S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	3010	+	all_lung(31;7.56e-05)		967					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2899G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087482	0.01873	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05139	3.5;3.49	4.86	-3.47	0.04753	.	1.351300	0.05126	N	0.491609	T	0.02970	0.0088	N	0.08118	0	0.44736	D	0.997736	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.45026	-0.9289	10	0.13108	T	0.6	.	6.5721	0.22545	0.1977:0.0:0.4383:0.3641	.	962;967	Q9C093-2;Q9C093	.;SPEF2_HUMAN	S	967;962	ENSP00000348314:A967S;ENSP00000412125:A962S	ENSP00000348314:A967S	A	+	1	0	SPEF2	35748730	0.863000	0.29885	0.116000	0.21606	0.755000	0.42902	0.081000	0.14823	-0.885000	0.03971	-0.899000	0.02877	GCA		PASS	0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		37	61	37	61	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41004915	41004915	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:41004915G>C	ENST00000399564.4	-	36	4422	c.3972C>G	c.(3970-3972)atC>atG	p.I1324M	MROH2B_ENST00000506092.2_Missense_Mutation_p.I879M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1324								p.I1324M(1)									CGAGCCCTCGGATGGCCATCT	0.473																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3970-3972)ATC>ATG		HEAT repeat family member 7B2							88.0	85.0	86.0					5																	41004915		1954	4143	6097	SO:0001583	missense	133558						binding	g.chr5:41004915G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3972C>G	5.37:g.41004915G>C	ENSP00000382476:p.Ile1324Met					HEATR7B2_uc003jmi.3_Missense_Mutation_p.I879M	p.I1324M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			36	4462	-			1324					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3972C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757057	0.69648	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.67523	-0.27;-0.27	6.0	5.14	0.70334	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.71213	0.3313	L	0.54323	1.7	0.36788	D	0.884713	P	0.45594	0.862	P	0.53760	0.734	T	0.76288	-0.3014	10	0.45353	T	0.12	.	10.9981	0.47589	0.0847:0.0:0.9153:0.0	.	1324	Q7Z745	HTRB2_HUMAN	M	879;1029;1324	ENSP00000441504:I879M;ENSP00000382476:I1324M	ENSP00000296803:I1029M	I	-	3	3	HEATR7B2	41040672	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	0.449000	0.21744	1.558000	0.49541	0.643000	0.83706	ATC		PASS	0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		7	133	7	133	---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41853624	41853624	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:41853624C>T	ENST00000196371.5	-	4	471	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	104					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.R104Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CTGCTTGGACCGAAGCAAAAG	0.408																																						uc003jmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(310-312)CGG>CAG		3-oxoacid CoA transferase 1 precursor	Succinic acid(DB00139)						83.0	77.0	79.0					5																	41853624		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41853624C>T	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.311G>A	5.37:g.41853624C>T	ENSP00000196371:p.Arg104Gln						p.R104Q	NM_000436	NP_000427	P55809	SCOT1_HUMAN			4	642	-			104					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.311G>A	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	6.194	0.403995	0.11754	.	.	ENSG00000083720	ENST00000196371;ENST00000546045	T	0.78126	-1.15	5.53	-1.29	0.09288	3-oxoacid CoA-transferase, subunit A (1);	0.500663	0.20968	N	0.082443	T	0.49558	0.1564	N	0.02736	-0.51	0.27901	N	0.938979	B	0.10296	0.003	B	0.08055	0.003	T	0.34601	-0.9822	10	0.14252	T	0.57	1.5387	12.8977	0.58109	0.0:0.1478:0.0:0.8522	.	104	P55809	SCOT1_HUMAN	Q	104;16	ENSP00000196371:R104Q	ENSP00000196371:R104Q	R	-	2	0	OXCT1	41889381	1.000000	0.71417	0.076000	0.20297	0.821000	0.46438	1.957000	0.40392	-0.487000	0.06735	-0.145000	0.13849	CGG		PASS	0.408	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		27	53	27	53	---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43299047	43299047	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:43299047C>G	ENST00000325110.6	-	3	227	c.21G>C	c.(19-21)ttG>ttC	p.L7F	HMGCS1_ENST00000433297.2_Missense_Mutation_p.L7F	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	7					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)	p.L7F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CTTCTGCATTCAAAGGAAGTG	0.363																																						uc003jnr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TTG>TTC		hydroxymethylglutaryl-CoA synthase 1							60.0	59.0	60.0					5																	43299047		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43299047C>G		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.21G>C	5.37:g.43299047C>G	ENSP00000322706:p.Leu7Phe					HMGCS1_uc003jnq.3_Missense_Mutation_p.L7F	p.L7F	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			3	228	-			7					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.21G>C	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631088	0.46944	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;T	0.90620	-2.7;-2.7;-1.11	6.02	6.02	0.97574	.	0.633514	0.16633	N	0.205983	D	0.84745	0.5540	L	0.27053	0.805	0.35544	D	0.8033	P	0.40266	0.71	B	0.38803	0.282	D	0.85851	0.1404	10	0.28530	T	0.3	-13.9719	13.6966	0.62582	0.0:0.93:0.0:0.07	.	7	Q01581	HMCS1_HUMAN	F	7	ENSP00000322706:L7F;ENSP00000399402:L7F;ENSP00000427339:L7F	ENSP00000322706:L7F	L	-	3	2	HMGCS1	43334804	0.997000	0.39634	1.000000	0.80357	0.917000	0.54804	1.155000	0.31700	2.857000	0.98124	0.650000	0.86243	TTG		PASS	0.363	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			11	109	11	109	---	---	---	---
C5orf28	64417	broad.mit.edu	37	5	43453863	43453863	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:43453863C>G	ENST00000500337.2	-	4	540	c.209G>C	c.(208-210)gGa>gCa	p.G70A	C5orf28_ENST00000397080.3_Missense_Mutation_p.G70A|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000512085.1_Missense_Mutation_p.G70A|C5orf28_ENST00000510130.1_Intron			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	70						integral component of membrane (GO:0016021)		p.G70A(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CTTCTTGATTCCAGTGACTAC	0.403																																						uc003jny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)GGA>GCA		hypothetical protein LOC64417							127.0	122.0	124.0					5																	43453863		2203	4300	6503	SO:0001583	missense	64417					integral to membrane		g.chr5:43453863C>G	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.209G>C	5.37:g.43453863C>G	ENSP00000426067:p.Gly70Ala					C5orf28_uc003jnv.3_Missense_Mutation_p.G70A|C5orf28_uc003jnx.2_Missense_Mutation_p.G70A	p.G70A	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN			2	352	-	Lung NSC(6;2.07e-05)		70					B2RDA6|Q9H6Z2	Missense_Mutation	SNP	ENST00000500337.2	37	c.209G>C	CCDS3945.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634893	0.87760	.	.	ENSG00000151881	ENST00000500337;ENST00000397080;ENST00000512085;ENST00000506860	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.76856	0.4046	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73183	-0.4063	9	0.33940	T	0.23	-9.643	19.5225	0.95190	0.0:1.0:0.0:0.0	.	70	Q0VDI3	CE028_HUMAN	A	70	.	ENSP00000380270:G70A	G	-	2	0	C5orf28	43489620	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	7.421000	0.80204	2.690000	0.91761	0.555000	0.69702	GGA		PASS	0.403	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		21	172	21	172	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45396766	45396766	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:45396766A>G	ENST00000303230.4	-	4	1115	c.1058T>C	c.(1057-1059)aTg>aCg	p.M353T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	353					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.M353T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATGTGACTCATAGCTTTGAA	0.463																																						uc003jok.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1057-1059)ATG>ACG		hyperpolarization activated cyclic							106.0	94.0	98.0					5																	45396766		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45396766A>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1058T>C	5.37:g.45396766A>G	ENSP00000307342:p.Met353Thr						p.M353T	NM_021072	NP_066550	O60741	HCN1_HUMAN			4	1083	-			353						Missense_Mutation	SNP	ENST00000303230.4	37	c.1058T>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978115	0.74360	.	.	ENSG00000164588	ENST00000303230	D	0.98345	-4.88	5.18	5.18	0.71444	Ion transport (1);	0.218080	0.37715	N	0.001975	D	0.97031	0.9030	M	0.64170	1.965	0.80722	D	1	B	0.32862	0.387	B	0.34301	0.179	D	0.97171	0.9844	10	0.62326	D	0.03	.	15.1973	0.73104	1.0:0.0:0.0:0.0	.	353	O60741	HCN1_HUMAN	T	353	ENSP00000307342:M353T	ENSP00000307342:M353T	M	-	2	0	HCN1	45432523	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	9.139000	0.94554	2.185000	0.69588	0.528000	0.53228	ATG		PASS	0.463	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		59	101	59	101	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45645431	45645431	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:45645431G>T	ENST00000303230.4	-	2	762	c.705C>A	c.(703-705)atC>atA	p.I235I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	235					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.I235I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAATAAGAAAGATATAATCCA	0.378																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(703-705)ATC>ATA		hyperpolarization activated cyclic							62.0	59.0	60.0					5																	45645431		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45645431G>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.705C>A	5.37:g.45645431G>T							p.I235I	NM_021072	NP_066550	O60741	HCN1_HUMAN			2	730	-			235			Helical; Name=Segment S3; (Potential).			Silent	SNP	ENST00000303230.4	37	c.705C>A	CCDS3952.1																																																																																				PASS	0.378	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		6	74	6	74	---	---	---	---
OTP	23440	broad.mit.edu	37	5	76932978	76932978	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:76932978C>A	ENST00000306422.3	-	2	1253	c.115G>T	c.(115-117)Ggg>Tgg	p.G39W	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	39					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G39W(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGATGGCCCCCGGGGTCGGAG	0.697																																						uc003kfg.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(115-117)GGG>TGG		orthopedia homeobox							7.0	9.0	8.0					5																	76932978		2179	4254	6433	SO:0001583	missense	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932978C>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.115G>T	5.37:g.76932978C>A	ENSP00000302814:p.Gly39Trp						p.G39W	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	263	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	39						Missense_Mutation	SNP	ENST00000306422.3	37	c.115G>T	CCDS4039.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.992393	0.93167	.	.	ENSG00000171540	ENST00000306422	D	0.92595	-3.07	5.46	5.46	0.80206	.	0.137469	0.47455	D	0.000239	D	0.91590	0.7343	N	0.08118	0	0.53688	D	0.999978	D	0.89917	1.0	D	0.85130	0.997	D	0.93659	0.6980	10	0.87932	D	0	.	17.4647	0.87629	0.0:1.0:0.0:0.0	.	39	Q5XKR4	OTP_HUMAN	W	39	ENSP00000302814:G39W	ENSP00000302814:G39W	G	-	1	0	OTP	76968734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.197000	0.65141	2.732000	0.93576	0.655000	0.94253	GGG		PASS	0.697	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			7	11	7	11	---	---	---	---
SCAMP1	9522	broad.mit.edu	37	5	77717666	77717666	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:77717666G>T	ENST00000538629.1	+	6	671	c.514G>T	c.(514-516)Gct>Tct	p.A172S	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	172					endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		CGGATGCTTGGCTTGGTTTTG	0.358																																						uc003kfl.2																			0					0						c.(514-516)GCT>TCT		secretory carrier membrane protein 1							300.0	272.0	281.0					5																	77717666		1846	4089	5935	SO:0001583	missense	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77717666G>T	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000538629.1:c.514G>T	5.37:g.77717666G>T	ENSP00000475496:p.Ala172Ser					SCAMP1_uc010jaa.2_Intron|SCAMP1_uc011ctc.1_RNA|SCAMP1_uc011ctd.1_RNA|SCAMP1_uc003kfm.2_RNA	p.A172S	NM_004866	NP_004857	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	6	671	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)	172			Helical; (Potential).		O43587|Q6FG23|Q96BX1|Q96QK5	Missense_Mutation	SNP	ENST00000538629.1	37	c.514G>T																																																																																					PASS	0.358	SCAMP1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004866		104	132	104	132	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101572570	101572570	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:101572570C>G	ENST00000310954.6	-	13	2453	c.2167G>C	c.(2167-2169)Gaa>Caa	p.E723Q		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.E723Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTTCACCCTTCTTTTACTATT	0.368																																						uc003knm.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(2167-2169)GAA>CAA		solute carrier organic anion transporter family,							128.0	125.0	126.0					5																	101572570		2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101572570C>G	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.2167G>C	5.37:g.101572570C>G	ENSP00000309741:p.Glu723Gln						p.E723Q	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	13	2454	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	723			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.2167G>C	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765342	0.31228	.	.	ENSG00000173930	ENST00000310954	T	0.39787	1.06	4.89	4.02	0.46733	.	0.577329	0.15594	N	0.254244	T	0.27063	0.0663	N	0.08118	0	0.09310	N	1	P	0.45044	0.849	P	0.45377	0.478	T	0.05500	-1.0881	10	0.27785	T	0.31	.	10.4756	0.44663	0.1941:0.8059:0.0:0.0	.	723	Q6ZQN7	SO4C1_HUMAN	Q	723	ENSP00000309741:E723Q	ENSP00000309741:E723Q	E	-	1	0	SLCO4C1	101600469	0.003000	0.15002	0.159000	0.22649	0.078000	0.17371	0.446000	0.21694	1.282000	0.44496	0.650000	0.86243	GAA		PASS	0.368	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		9	102	9	102	---	---	---	---
PPIP5K2	23262	broad.mit.edu	37	5	102472516	102472516	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:102472516A>T	ENST00000358359.3	+	4	900	c.391A>T	c.(391-393)Ata>Tta	p.I131L	PPIP5K2_ENST00000321521.9_Missense_Mutation_p.I131L|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.I131L	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	131					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)	p.I131L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAGTATCTCATACAAGATAG	0.368																																						uc003kod.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(391-393)ATA>TTA		Histidine acid phosphatase domain containing 1							160.0	172.0	168.0					5																	102472516		2203	4300	6503	SO:0001583	missense	23262				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr5:102472516A>T	AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.391A>T	5.37:g.102472516A>T	ENSP00000351126:p.Ile131Leu					PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Missense_Mutation_p.I131L|PPIP5K2_uc010jbo.1_Missense_Mutation_p.I53L	p.I131L	NM_015216	NP_056031	O43314	VIP2_HUMAN			4	910	+			131					A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	ENST00000358359.3	37	c.391A>T		.	.	.	.	.	.	.	.	.	.	A	9.958	1.222048	0.22457	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217;ENST00000507310	T;T;T;T	0.06687	3.34;3.27;3.36;3.34	5.28	5.28	0.74379	.	0.143864	0.47455	D	0.000233	T	0.06645	0.0170	N	0.20766	0.605	0.80722	D	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.19946	0.002;0.027;0.005	T	0.34625	-0.9821	10	0.13108	T	0.6	-7.1726	15.4885	0.75587	1.0:0.0:0.0:0.0	.	53;131;131	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	L	131;53;131;131;131;61	ENSP00000313070:I131L;ENSP00000422525:I53L;ENSP00000351126:I131L;ENSP00000416016:I131L	ENSP00000313070:I131L	I	+	1	0	PPIP5K2	102500415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.910000	0.92685	2.117000	0.64856	0.383000	0.25322	ATA		PASS	0.368	PPIP5K2-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370487.1	NM_015216		121	140	121	140	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140182467	140182467	+	Missense_Mutation	SNP	C	C	T	rs200608373		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140182467C>T	ENST00000522353.2	+	1	1685	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A562V	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	562	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A562V(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAACGCGCCGGCACTG	0.692																																						uc003lhf.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(2)	8						c.(1684-1686)GCG>GTG		protocadherin alpha 3 isoform 1 precursor							89.0	88.0	89.0					5																	140182467		2203	4298	6501	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182467C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1685C>T	5.37:g.140182467C>T	ENSP00000429808:p.Ala562Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A562V	p.A562V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1685	+			562			Cadherin 5.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1685C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.794727	0.50102	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.42513	0.97;0.97	4.5	3.63	0.41609	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.41500	U	0.000871	T	0.51500	0.1678	L	0.55213	1.73	0.28385	N	0.919351	P;P	0.50156	0.932;0.466	P;B	0.57371	0.819;0.082	T	0.48387	-0.9040	10	0.72032	D	0.01	.	10.1173	0.42598	0.0:0.8355:0.0:0.1645	.	562;562	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	562	ENSP00000429808:A562V;ENSP00000434086:A562V	ENSP00000429808:A562V	A	+	2	0	PCDHA3	140162651	0.508000	0.26154	1.000000	0.80357	0.305000	0.27757	2.140000	0.42159	1.040000	0.40099	0.306000	0.20318	GCG		PASS	0.692	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		53	59	53	59	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202001	140202001	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140202001C>G	ENST00000529859.1	+	1	641	c.641C>G	c.(640-642)aCt>aGt	p.T214S	PCDHA5_ENST00000378126.3_Missense_Mutation_p.T214S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T214S|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	214	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T214S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGATTGCAACTGATGGAGGA	0.348																																						uc003lhl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(640-642)ACT>AGT		protocadherin alpha 5 isoform 1 precursor							100.0	106.0	104.0					5																	140202001		2203	4300	6503	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202001C>G	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.641C>G	5.37:g.140202001C>G	ENSP00000436557:p.Thr214Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.T214S|PCDHA5_uc003lhj.1_Missense_Mutation_p.T214S	p.T214S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	641	+			214			Extracellular (Potential).|Cadherin 2.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.641C>G	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	4.373	0.068782	0.08436	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52057	0.68;0.68;0.68	4.02	-4.2	0.03823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37237	0.0996	L	0.37507	1.11	0.09310	N	1	B;B;B	0.26744	0.066;0.092;0.158	B;B;B	0.37144	0.242;0.034;0.034	T	0.44757	-0.9307	9	0.30854	T	0.27	.	8.3208	0.32128	0.0:0.4033:0.1083:0.4884	.	214;214;214	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	S	214	ENSP00000433416:T214S;ENSP00000436557:T214S;ENSP00000367366:T214S	ENSP00000367366:T214S	T	+	2	0	PCDHA5	140182185	0.000000	0.05858	0.510000	0.27712	0.940000	0.58332	-3.843000	0.00352	-1.325000	0.02269	-0.218000	0.12543	ACT		PASS	0.348	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		54	73	54	73	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215871	140215871	+	Missense_Mutation	SNP	C	C	G	rs146878440		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140215871C>G	ENST00000525929.1	+	1	1903	c.1903C>G	c.(1903-1905)Cga>Gga	p.R635G	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R635G|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R635G(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACACGAGCCCTAGA	0.647																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(1903-1905)CGA>GGA		protocadherin alpha 7 isoform 1 precursor		C	,,,,,,GLY/ARG,,,GLY/ARG	0,4406		0,0,2203	95.0	97.0	97.0		,,,,,,1903,,,1903	3.6	0.9	5	dbSNP_134	97	4,8594	3.7+/-12.6	0,4,4295	no	intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_031411.1,NM_031849.1,NM_031852.1	,,,,,,125,,,125	0,4,6498	GG,GC,CC		0.0465,0.0,0.0308	,,,,,,,,,	,,,,,,635/938,,,635/790	140215871	4,13000	2203	4299	6502	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215871C>G	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1903C>G	5.37:g.140215871C>G	ENSP00000436426:p.Arg635Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.R635G	p.R635G	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1903	+			635			Cadherin 6.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1903C>G	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905108	0.33628	0.0	4.65E-4	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.52754	0.65;0.65	3.57	3.57	0.40892	Cadherin (4);Cadherin-like (1);	0.000000	0.30820	U	0.008817	T	0.55162	0.1903	L	0.48642	1.525	0.28818	N	0.897882	P;P	0.47034	0.731;0.889	P;P	0.53861	0.736;0.616	T	0.56956	-0.7893	10	0.87932	D	0	.	15.7104	0.77623	0.0:1.0:0.0:0.0	.	635;635	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	G	635	ENSP00000436426:R635G;ENSP00000367365:R635G	ENSP00000367365:R635G	R	+	1	2	PCDHA7	140196055	0.269000	0.24143	0.883000	0.34634	0.006000	0.05464	0.821000	0.27338	1.968000	0.57251	0.462000	0.41574	CGA		PASS	0.647	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		53	58	53	58	---	---	---	---
PCDHA10	56139	broad.mit.edu	37	5	140235693	140235693	+	Silent	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140235693C>A	ENST00000307360.5	+	1	60	c.60C>A	c.(58-60)ctC>ctA	p.L20L	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.L20L|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	20					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L20L(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTCCTCGCAGCCTGGG	0.602																																						uc003lhx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(58-60)CTC>CTA		protocadherin alpha 10 isoform 1 precursor							65.0	74.0	71.0					5																	140235693		2196	4273	6469	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140235693C>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.60C>A	5.37:g.140235693C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Silent_p.L20L|PCDHA10_uc011dad.1_Silent_p.L20L	p.L20L	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	60	+			20					A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.60C>A	CCDS54921.1																																																																																				PASS	0.602	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		8	94	8	94	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140569145	140569145	+	5'Flank	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140569145G>C	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.622																																						uc003liw.1																			0					0						c.(2254-2256)GAG>CAG		protocadherin beta 9 precursor							103.0	120.0	114.0					5																	140569145		2203	4300	6503	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569145G>C	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569145G>C	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.E752Q	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2254	+			752			Cytoplasmic (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2254G>C	CCDS4252.1																																																																																				PASS	0.622	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		12	197	12	197	---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140762918	140762918	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140762918G>A	ENST00000518325.1	+	1	452	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	151	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R151Q(2)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGGGTTCGGTTTCCGTTA	0.468																																						uc003lka.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(451-453)CGG>CAG		protocadherin gamma subfamily A, 7 isoform 1							43.0	49.0	47.0					5																	140762918		1960	4154	6114	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140762918G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.452G>A	5.37:g.140762918G>A	ENSP00000430024:p.Arg151Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R151Q	p.R151Q	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	452	+			151			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.452G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	14.30	2.495337	0.44352	.	.	ENSG00000253537	ENST00000518325	T	0.52526	0.66	5.01	5.01	0.66863	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.66297	0.2775	M	0.71296	2.17	0.09310	N	1	D;P	0.56521	0.976;0.885	D;P	0.70016	0.967;0.493	T	0.58081	-0.7699	9	0.66056	D	0.02	.	12.1111	0.53840	0.0789:0.0:0.9211:0.0	.	151;151	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	Q	151	ENSP00000430024:R151Q	ENSP00000430024:R151Q	R	+	2	0	PCDHGA7	140743102	0.078000	0.21339	0.991000	0.47740	0.393000	0.30537	2.186000	0.42593	2.475000	0.83589	0.655000	0.94253	CGG		PASS	0.468	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		10	59	10	59	---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140869078	140869078	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:140869078G>A	ENST00000252087.1	+	1	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	91	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D91N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAAAGATTGACCGAGAAAG	0.552																																						uc003lla.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(271-273)GAC>AAC		protocadherin gamma subfamily C, 5 isoform 1							72.0	76.0	74.0					5																	140869078		2203	4300	6503	SO:0001583	missense	56097				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869078G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.271G>A	5.37:g.140869078G>A	ENSP00000252087:p.Asp91Asn					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Missense_Mutation_p.D91N	p.D91N	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	271	+			91			Extracellular (Potential).|Cadherin 1.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.271G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.844790	0.51164	.	.	ENSG00000240764	ENST00000252087	T	0.52295	0.67	5.53	5.53	0.82687	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.56097	D	0.000038	T	0.79399	0.4439	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85435	0.1151	10	0.72032	D	0.01	.	19.0571	0.93070	0.0:0.0:1.0:0.0	.	91;91	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	N	91	ENSP00000252087:D91N	ENSP00000252087:D91N	D	+	1	0	PCDHGC5	140849262	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	9.822000	0.99363	2.582000	0.87167	0.655000	0.94253	GAC		PASS	0.552	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929		45	40	45	40	---	---	---	---
NR3C1	2908	broad.mit.edu	37	5	142779948	142779948	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:142779948C>T	ENST00000343796.2	-	2	1450	c.457G>A	c.(457-459)Gag>Aag	p.E153K	NR3C1_ENST00000394466.2_Missense_Mutation_p.E153K|NR3C1_ENST00000504572.1_Missense_Mutation_p.E153K|NR3C1_ENST00000415690.2_Missense_Mutation_p.E153K|NR3C1_ENST00000394464.2_Missense_Mutation_p.E153K|NR3C1_ENST00000424646.2_Missense_Mutation_p.E153K|NR3C1_ENST00000503201.1_Missense_Mutation_p.E153K|NR3C1_ENST00000231509.3_Missense_Mutation_p.E153K|NR3C1_ENST00000416954.2_Intron	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	153	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.E153K(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	AACTCCTTCTCTGTGGGGGCA	0.473																																						uc003lmz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(457-459)GAG>AAG		glucocorticoid receptor isoform alpha	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						67.0	72.0	70.0					5																	142779948		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142779948C>T	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.457G>A	5.37:g.142779948C>T	ENSP00000343205:p.Glu153Lys					NR3C1_uc003lmy.2_Missense_Mutation_p.E153K|NR3C1_uc003lna.2_Missense_Mutation_p.E153K|NR3C1_uc003lnb.2_Missense_Mutation_p.E153K|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.E153K|NR3C1_uc003lnd.2_Missense_Mutation_p.E153K|NR3C1_uc003lne.2_Missense_Mutation_p.E153K|NR3C1_uc003lnf.2_Missense_Mutation_p.E153K|NR3C1_uc003lng.2_Missense_Mutation_p.E153K|NR3C1_uc003lnh.2_Missense_Mutation_p.E153K|NR3C1_uc003lni.2_Missense_Mutation_p.E153K	p.E153K	NM_000176	NP_000167	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	949	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	153			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.457G>A	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	7.259	0.604725	0.14002	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34	5.54	4.67	0.58626	.	1.552860	0.03067	N	0.156628	T	0.41166	0.1147	L	0.39147	1.195	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.12156	0.007;0.004;0.007	T	0.05338	-1.0891	10	0.40728	T	0.16	.	17.5052	0.87743	0.0:0.9339:0.0:0.0661	.	153;153;153	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	K	153	ENSP00000377977:E153K;ENSP00000343205:E153K;ENSP00000387672:E153K;ENSP00000405282:E153K;ENSP00000422518:E153K;ENSP00000377979:E153K;ENSP00000231509:E153K;ENSP00000427672:E153K	ENSP00000231509:E153K	E	-	1	0	NR3C1	142760141	0.952000	0.32445	1.000000	0.80357	0.110000	0.19582	2.196000	0.42686	0.720000	0.32209	-0.797000	0.03246	GAG		PASS	0.473	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			53	60	53	60	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149751721	149751721	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:149751721G>T	ENST00000504761.2	+	7	792	c.792G>T	c.(790-792)aaG>aaT	p.K264N	TCOF1_ENST00000439160.2_Missense_Mutation_p.K264N|TCOF1_ENST00000377797.3_Missense_Mutation_p.K264N|TCOF1_ENST00000513346.1_Missense_Mutation_p.K264N|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000451292.1_Missense_Mutation_p.K264N|TCOF1_ENST00000445265.2_Intron|TCOF1_ENST00000394269.3_Missense_Mutation_p.K264N			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	264					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.K264N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAGGGCCAAGAAGCCAGAAG	0.642																																						uc003lry.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(790-792)AAG>AAT		Treacher Collins-Franceschetti syndrome 1							30.0	36.0	34.0					5																	149751721		2069	4191	6260	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149751721G>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.792G>T	5.37:g.149751721G>T	ENSP00000421655:p.Lys264Asn					TCOF1_uc003lrw.2_Missense_Mutation_p.K264N|TCOF1_uc011dch.1_Missense_Mutation_p.K264N|TCOF1_uc003lrz.2_Missense_Mutation_p.K264N|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron	p.K264N	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	900	+		all_hematologic(541;0.224)	264					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.792G>T	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216030	0.79352	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T	0.63580	-0.02;-0.02;-0.02;1.57;-0.05;-0.02;-0.02	4.98	1.94	0.25998	Treacher Collins syndrome, treacle (1);	1.021960	0.07838	N	0.962449	T	0.67202	0.2868	L	0.60455	1.87	0.09310	N	1	D;D;P;P	0.56968	0.978;0.978;0.897;0.531	P;P;P;B	0.56127	0.792;0.792;0.459;0.215	T	0.52034	-0.8629	10	0.59425	D	0.04	-0.2464	3.9742	0.09467	0.1938:0.0:0.5587:0.2474	.	264;264;264;264	Q13428-7;Q13428-6;Q13428;Q13428-5	.;.;TCOF_HUMAN;.	N	264	ENSP00000400939:K264N;ENSP00000367028:K264N;ENSP00000406888:K264N;ENSP00000377811:K264N;ENSP00000390717:K264N;ENSP00000421655:K264N;ENSP00000427484:K264N	ENSP00000367028:K264N	K	+	3	2	TCOF1	149731914	0.025000	0.19082	0.000000	0.03702	0.855000	0.48748	0.925000	0.28791	0.253000	0.21552	0.561000	0.74099	AAG		PASS	0.642	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		8	35	8	35	---	---	---	---
TCOF1	6949	broad.mit.edu	37	5	149751728	149751728	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:149751728G>A	ENST00000504761.2	+	7	799	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	TCOF1_ENST00000439160.2_Missense_Mutation_p.E267K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E267K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E267K|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000451292.1_Missense_Mutation_p.E267K|TCOF1_ENST00000445265.2_Intron|TCOF1_ENST00000394269.3_Missense_Mutation_p.E267K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	267					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.E267K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGAAGCCAGAAGAGGAGTC	0.647																																						uc003lry.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(799-801)GAA>AAA		Treacher Collins-Franceschetti syndrome 1							30.0	37.0	35.0					5																	149751728		2078	4193	6271	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149751728G>A		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.799G>A	5.37:g.149751728G>A	ENSP00000421655:p.Glu267Lys					TCOF1_uc003lrw.2_Missense_Mutation_p.E267K|TCOF1_uc011dch.1_Missense_Mutation_p.E267K|TCOF1_uc003lrz.2_Missense_Mutation_p.E267K|TCOF1_uc003lrx.2_Intron|TCOF1_uc003lsa.2_Intron	p.E267K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	907	+		all_hematologic(541;0.224)	267					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.799G>A	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677252	0.29783	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.05;-0.21;-0.21	4.98	2.18	0.27775	Treacher Collins syndrome, treacle (1);	0.358961	0.20322	N	0.094615	T	0.53658	0.1810	M	0.64997	1.995	0.09310	N	1	B;B;P;B	0.34934	0.106;0.106;0.476;0.192	B;B;B;B	0.33196	0.099;0.099;0.159;0.054	T	0.37056	-0.9722	10	0.11485	T	0.65	-6.6732	5.3124	0.15837	0.1712:0.1669:0.6619:0.0	.	267;267;267;267	Q13428-7;Q13428-6;Q13428;Q13428-5	.;.;TCOF_HUMAN;.	K	267	ENSP00000400939:E267K;ENSP00000367028:E267K;ENSP00000406888:E267K;ENSP00000377811:E267K;ENSP00000390717:E267K;ENSP00000421655:E267K;ENSP00000427484:E267K	ENSP00000367028:E267K	E	+	1	0	TCOF1	149731921	0.013000	0.17824	0.058000	0.19502	0.986000	0.74619	0.698000	0.25571	0.357000	0.24183	0.561000	0.74099	GAA		PASS	0.647	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		5	32	5	32	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150945454	150945454	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:150945454G>A	ENST00000261800.5	-	1	3051	c.3039C>T	c.(3037-3039)ctC>ctT	p.L1013L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1013	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1013L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACATGGCAGAGAGTCCTGC	0.602																																						uc003lue.3																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3037-3039)CTC>CTT		FAT tumor suppressor 2 precursor							57.0	45.0	49.0					5																	150945454		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945454G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3039C>T	5.37:g.150945454G>A						GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.L1013L	p.L1013L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3052	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1013			Extracellular (Potential).|Cadherin 8.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.3039C>T	CCDS4317.1																																																																																				PASS	0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	35	5	35	---	---	---	---
GEMIN5	25929	broad.mit.edu	37	5	154317677	154317677	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:154317677C>T	ENST00000285873.7	-	1	92	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	MRPL22_ENST00000523037.1_5'Flank|MRPL22_ENST00000439747.3_5'Flank|MRPL22_ENST00000265229.8_5'Flank|MRPL22_ENST00000522038.1_5'Flank	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)	p.R6Q(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGGCAGCGTCCGCGGCTCCTG	0.687																																						uc003lvx.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(16-18)CGG>CAG		gemin 5							5.0	7.0	6.0					5																	154317677		2086	4090	6176	SO:0001583	missense	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154317677C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.17G>A	5.37:g.154317677C>T	ENSP00000285873:p.Arg6Gln					GEMIN5_uc011ddk.1_Missense_Mutation_p.R6Q|MRPL22_uc003lvy.3_5'Flank|MRPL22_uc003lvz.3_5'Flank	p.R6Q	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	100	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	6					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	ENST00000285873.7	37	c.17G>A	CCDS4330.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105925	0.77096	.	.	ENSG00000082516	ENST00000285873	T	0.74842	-0.88	5.18	3.41	0.39046	.	0.059954	0.64402	N	0.000003	T	0.63977	0.2557	L	0.50333	1.59	0.47094	D	0.999315	B;B	0.33171	0.4;0.4	B;B	0.18561	0.022;0.022	T	0.63337	-0.6660	10	0.54805	T	0.06	-15.0942	11.4488	0.50140	0.0:0.8552:0.0:0.1448	.	6;6	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Q	6	ENSP00000285873:R6Q	ENSP00000285873:R6Q	R	-	2	0	GEMIN5	154297870	0.997000	0.39634	0.999000	0.59377	0.969000	0.65631	1.145000	0.31577	0.772000	0.33382	0.591000	0.81541	CGG		PASS	0.687	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			5	8	5	8	---	---	---	---
SOX30	11063	broad.mit.edu	37	5	157075874	157075874	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:157075874C>G	ENST00000265007.6	-	2	1339	c.998G>C	c.(997-999)aGa>aCa	p.R333T	SOX30_ENST00000519442.1_Missense_Mutation_p.R28T|SOX30_ENST00000311371.5_Missense_Mutation_p.R333T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	333					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R333T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGACCATTTCTGTCCTTACT	0.433																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(997-999)AGA>ACA		SRY (sex determining region Y)-box 30 isoform a							146.0	129.0	135.0					5																	157075874		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157075874C>G	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.998G>C	5.37:g.157075874C>G	ENSP00000265007:p.Arg333Thr					SOX30_uc003lxc.1_Missense_Mutation_p.R333T|SOX30_uc011dds.1_Missense_Mutation_p.R28T	p.R333T	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1340	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	333					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.998G>C	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819800	0.71028	.	.	ENSG00000039600	ENST00000311371;ENST00000265007;ENST00000519442	D;D;D	0.99201	-5.55;-5.55;-5.55	5.72	5.72	0.89469	High mobility group, superfamily (1);	0.074158	0.56097	D	0.000023	D	0.96864	0.8976	N	0.08118	0	0.29645	N	0.844404	P;D;P	0.62365	0.801;0.991;0.956	B;P;B	0.53593	0.258;0.73;0.444	D	0.93629	0.6954	10	0.59425	D	0.04	.	10.021	0.42044	0.0:0.8452:0.0:0.1548	.	28;333;333	B4DXW7;O94993-2;O94993	.;.;SOX30_HUMAN	T	333;333;28	ENSP00000309343:R333T;ENSP00000265007:R333T;ENSP00000427984:R28T	ENSP00000265007:R333T	R	-	2	0	SOX30	157008452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.134000	0.42102	2.694000	0.91930	0.555000	0.69702	AGA		PASS	0.433	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		8	108	8	108	---	---	---	---
GABRA1	2554	broad.mit.edu	37	5	161300148	161300148	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr5:161300148G>T	ENST00000428797.2	+	6	636	c.281G>T	c.(280-282)cGt>cTt	p.R94L	GABRA1_ENST00000023897.6_Missense_Mutation_p.R94L|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94L|GABRA1_ENST00000444819.1_Missense_Mutation_p.R94L|GABRA1_ENST00000420560.1_Missense_Mutation_p.R94L|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|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)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R94H(2)|p.R94L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	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)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTATTTTTCCGTCAAAGCTGG	0.373																																						uc010jiw.2																			3	Substitution - Missense(3)	p.R94H(1)	urinary_tract(1)|ovary(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(280-282)CGT>CTT		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						91.0	98.0	96.0					5																	161300148		2203	4300	6503	SO:0001583	missense	2554				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|GABA-A receptor activity	g.chr5:161300148G>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.281G>T	5.37:g.161300148G>T	ENSP00000393097:p.Arg94Leu					GABRA1_uc010jix.2_Missense_Mutation_p.R94L|GABRA1_uc010jiy.2_Missense_Mutation_p.R94L|GABRA1_uc003lyx.3_Missense_Mutation_p.R94L|GABRA1_uc010jiz.2_Missense_Mutation_p.R94L|GABRA1_uc010jja.2_Missense_Mutation_p.R94L|GABRA1_uc010jjb.2_Missense_Mutation_p.R94L	p.R94L	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	6	749	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	94			Extracellular (Probable).		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.281G>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	35	5.486880	0.96323	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819;ENST00000519621	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.107484	0.64402	D	0.000008	D	0.92945	0.7755	H	0.95470	3.675	0.80722	D	1	D	0.65815	0.995	D	0.65874	0.939	D	0.94377	0.7601	10	0.87932	D	0	.	19.9462	0.97183	0.0:0.0:1.0:0.0	.	94	P14867	GBRA1_HUMAN	L	94	ENSP00000023897:R94L;ENSP00000393097:R94L;ENSP00000377517:R94L;ENSP00000415441:R94L;ENSP00000408041:R94L;ENSP00000414232:R94L;ENSP00000430435:R94L	ENSP00000023897:R94L	R	+	2	0	GABRA1	161232726	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.751000	0.98889	2.717000	0.92951	0.585000	0.79938	CGT		PASS	0.373	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		62	75	62	75	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24596840	24596840	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:24596840G>A	ENST00000378214.3	-	3	586	c.62C>T	c.(61-63)gCc>gTc	p.A21V	KIAA0319_ENST00000537886.1_Missense_Mutation_p.A21V|KIAA0319_ENST00000430948.2_5'UTR|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A21V|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A12V	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	21	MANSC. {ECO:0000255|PROSITE- ProRule:PRU00341}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A21V(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGCTTACGGGCACAACCTTT	0.483																																						uc011djo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(61-63)GCC>GTC		KIAA0319 precursor							64.0	57.0	59.0					6																	24596840		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596840G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.62C>T	6.37:g.24596840G>A	ENSP00000367459:p.Ala21Val					KIAA0319_uc011djp.1_5'UTR|KIAA0319_uc003neh.1_Missense_Mutation_p.A21V|KIAA0319_uc011djq.1_Missense_Mutation_p.A12V|KIAA0319_uc011djr.1_Missense_Mutation_p.A21V	p.A21V	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			3	299	-			21			MANSC.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.62C>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	1.981	-0.434143	0.04669	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000378214;ENST00000543707	T;T;T;T	0.06768	3.33;3.26;3.33;3.33	3.7	-1.02	0.10135	Seven cysteines (1);Seven cysteines, N-terminal (1);	1.260730	0.05637	N	0.582819	T	0.01695	0.0054	L	0.46157	1.445	0.09310	N	0.999999	B;B;B	0.33583	0.418;0.001;0.244	B;B;B	0.29785	0.083;0.002;0.107	T	0.45702	-0.9243	10	0.21540	T	0.41	-2.2486	0.281	0.00245	0.2959:0.2741:0.1468:0.2833	.	21;12;21	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	V	21;12;21;21	ENSP00000439700:A21V;ENSP00000442403:A12V;ENSP00000367459:A21V;ENSP00000437656:A21V	ENSP00000367459:A21V	A	-	2	0	KIAA0319	24704819	0.000000	0.05858	0.020000	0.16555	0.718000	0.41266	0.416000	0.21198	-0.090000	0.12462	-0.346000	0.07831	GCC		PASS	0.483	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		4	111	4	111	---	---	---	---
FLOT1	10211	broad.mit.edu	37	6	30697820	30697820	+	Silent	SNP	G	G	C	rs1802471		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:30697820G>C	ENST00000376389.3	-	12	1453	c.1233C>G	c.(1231-1233)ctC>ctG	p.L411L	FLOT1_ENST00000456573.2_Silent_p.L363L	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)	p.L411L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	TCACGCCTGTGAGTCTTTCCA	0.547																																						uc003nrm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1231-1233)CTC>CTG		flotillin 1							112.0	104.0	107.0					6																	30697820		1511	2709	4220	SO:0001819	synonymous_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30697820G>C	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.1233C>G	6.37:g.30697820G>C						FLOT1_uc011dmr.1_Silent_p.L363L	p.L411L	NM_005803	NP_005794	O75955	FLOT1_HUMAN			12	1397	-			411					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000376389.3	37	c.1233C>G	CCDS4688.1																																																																																				PASS	0.547	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			6	96	6	96	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31498931	31498931	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:31498931G>T	ENST00000396172.1	-	9	1651	c.1021C>A	c.(1021-1023)Ctt>Att	p.L341I	DDX39B_ENST00000462421.1_5'Flank|DDX39B_ENST00000376177.2_Missense_Mutation_p.L341I|DDX39B_ENST00000458640.1_Missense_Mutation_p.L341I|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000415382.2_Missense_Mutation_p.L263I|DDX39B_ENST00000417556.2_Missense_Mutation_p.L356I	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	341	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.L341I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GTAGCCACAAGAATTCGTCGT	0.423																																						uc003ntt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)CTT>ATT		HLA-B associated transcript 1							57.0	58.0	58.0					6																	31498931		2203	4300	6503	SO:0001583	missense	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31498931G>T	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1021C>A	6.37:g.31498931G>T	ENSP00000379475:p.Leu341Ile					BAT1_uc003ntq.2_Missense_Mutation_p.L74I|BAT1_uc003ntr.2_Missense_Mutation_p.L148I|BAT1_uc003nts.2_Missense_Mutation_p.L341I|BAT1_uc011dnn.1_Missense_Mutation_p.L263I|BAT1_uc003ntu.2_Missense_Mutation_p.L341I|BAT1_uc003ntv.2_Missense_Mutation_p.L341I	p.L341I	NM_004640	NP_004631	Q13838	DX39B_HUMAN			9	1652	-			341			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Missense_Mutation	SNP	ENST00000396172.1	37	c.1021C>A	CCDS4697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.958885|4.958885	0.92726|0.92726	.|.	.|.	ENSG00000198563|ENSG00000198563	ENST00000417023|ENST00000376177;ENST00000458640;ENST00000396172;ENST00000417556;ENST00000415382	.|D;T;T;T;T	.|0.97186	.|-4.28;2.49;2.49;2.49;2.49	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Helicase, C-terminal (3);	.|0.000000	.|0.64402	.|D	.|0.000006	D|D	0.98160|0.98160	0.9392|0.9392	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D	.|0.76494	.|0.998;0.999;0.996;0.897;0.999	.|D;D;D;D;D	.|0.91635	.|0.989;0.999;0.954;0.956;0.999	D|D	0.98816|0.98816	1.0745|1.0745	5|10	.|0.87932	.|D	.|0	-13.7129|-13.7129	16.7621|16.7621	0.85515|0.85515	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|263;341;341;356;240	.|B4DP52;Q13838;Q5STU3;F8VQ10;B0V2L1	.|.;DX39B_HUMAN;.;.;.	L|I	104|341;341;341;356;263	.|ENSP00000365347:L341I;ENSP00000416269:L341I;ENSP00000379475:L341I;ENSP00000412582:L356I;ENSP00000392669:L263I	.|ENSP00000365347:L341I	F|L	-|-	3|1	2|0	DDX39B|DDX39B	31606910|31606910	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.076000|5.076000	0.64413|0.64413	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	TTC|CTT		PASS	0.423	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		5	105	5	105	---	---	---	---
VARS	7407	broad.mit.edu	37	6	31752382	31752382	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:31752382G>C	ENST00000375663.3	-	11	1897	c.1457C>G	c.(1456-1458)tCt>tGt	p.S486C	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Missense_Mutation_p.S191C	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	486					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.S486C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CTCAATGTCAGAGATGGCGGA	0.592																																						uc003nxe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1456-1458)TCT>TGT		valyl-tRNA synthetase	L-Valine(DB00161)						95.0	80.0	85.0					6																	31752382		1511	2709	4220	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752382G>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1457C>G	6.37:g.31752382G>C	ENSP00000364815:p.Ser486Cys					VARS_uc011doi.1_RNA	p.S486C	NM_006295	NP_006286	P26640	SYVC_HUMAN			11	1880	-			486					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1457C>G	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807589	0.90623	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T;T	0.52754	0.65;0.65	5.55	5.55	0.83447	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.073201	0.64402	D	0.000007	T	0.80949	0.4722	H	0.99590	4.645	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.89142	0.3517	10	0.87932	D	0	-8.2595	17.0061	0.86393	0.0:0.0:1.0:0.0	.	486	P26640	SYVC_HUMAN	C	486;191	ENSP00000364815:S486C;ENSP00000398317:S191C	ENSP00000364815:S486C	S	-	2	0	VARS	31860361	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.597000	0.87782	0.655000	0.94253	TCT		PASS	0.592	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		10	91	10	91	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35211449	35211449	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:35211449G>C	ENST00000274938.7	+	16	1988	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R679T	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.R663T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TTCCAGGAGAGAGAAGGGCAG	0.647																																						uc003okf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1987-1989)AGA>ACA		signal peptide, CUB domain, EGF-like 3							59.0	56.0	57.0					6																	35211449		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35211449G>C	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1988G>C	6.37:g.35211449G>C	ENSP00000274938:p.Arg663Thr					SCUBE3_uc003okg.1_Missense_Mutation_p.R662T|SCUBE3_uc003okh.1_Missense_Mutation_p.R550T	p.R663T	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			16	1994	+			663						Missense_Mutation	SNP	ENST00000274938.7	37	c.1988G>C	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337370	0.24253	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.28666	1.6;1.6	5.59	4.71	0.59529	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.194754	0.49916	D	0.000122	T	0.07098	0.0180	N	0.13272	0.32	0.43137	D	0.994883	P;P	0.39717	0.634;0.684	B;B	0.37780	0.167;0.258	T	0.08889	-1.0700	10	0.27785	T	0.31	.	4.4542	0.11635	0.1662:0.217:0.6168:0.0	.	679;663	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	T	679;663	ENSP00000378174:R679T;ENSP00000274938:R663T	ENSP00000274938:R663T	R	+	2	0	SCUBE3	35319427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.986000	0.49370	2.639000	0.89480	0.655000	0.94253	AGA		PASS	0.647	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		5	76	5	76	---	---	---	---
CPNE5	57699	broad.mit.edu	37	6	36714258	36714258	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:36714258T>A	ENST00000244751.2	-	16	1739	c.1115A>T	c.(1114-1116)cAc>cTc	p.H372L	CPNE5_ENST00000393189.2_Missense_Mutation_p.H80L|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	372	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.H372L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTGTCGTAGTGCTGGATGAT	0.627																																						uc003omr.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1114-1116)CAC>CTC		copine V							115.0	102.0	106.0					6																	36714258		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36714258T>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.1115A>T	6.37:g.36714258T>A	ENSP00000244751:p.His372Leu					CPNE5_uc003omp.1_Missense_Mutation_p.H80L|CPNE5_uc010jwn.1_Missense_Mutation_p.H22L|CPNE5_uc003omq.1_Missense_Mutation_p.H22L	p.H372L	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			16	1182	-			372			VWFA.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.1115A>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695524	0.68386	.	.	ENSG00000124772	ENST00000244751;ENST00000393189	T;T	0.21734	1.99;1.99	4.77	4.77	0.60923	von Willebrand factor, type A (2);Copine (1);	0.050072	0.85682	D	0.000000	T	0.07999	0.0200	L	0.27053	0.805	0.47949	D	0.999557	B	0.16603	0.018	B	0.18871	0.023	T	0.05954	-1.0854	10	0.87932	D	0	.	12.245	0.54566	0.0:0.0:0.0:1.0	.	372	Q9HCH3	CPNE5_HUMAN	L	372;80	ENSP00000244751:H372L;ENSP00000376885:H80L	ENSP00000244751:H372L	H	-	2	0	CPNE5	36822236	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.619000	0.83057	1.781000	0.52344	0.402000	0.26972	CAC		PASS	0.627	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		67	39	67	39	---	---	---	---
BTBD9	114781	broad.mit.edu	37	6	38560460	38560460	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:38560460G>C	ENST00000481247.1	-	4	857	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	BTBD9_ENST00000419706.2_Missense_Mutation_p.L177V|BTBD9_ENST00000314100.6_Missense_Mutation_p.L168V|BTBD9_ENST00000403056.1_Missense_Mutation_p.L236V|BTBD9_ENST00000408958.1_Missense_Mutation_p.L168V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	236	BACK.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.L236V(1)|p.L168V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						ACAACATTCAGAAGCTCTGTG	0.468																																						uc003ooa.3																			2	Substitution - Missense(2)		lung(2)		0						c.(706-708)CTG>GTG		BTB (POZ) domain containing 9 isoform a							103.0	105.0	104.0					6																	38560460		1991	4177	6168	SO:0001583	missense	114781				cell adhesion			g.chr6:38560460G>C		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.706C>G	6.37:g.38560460G>C	ENSP00000418751:p.Leu236Val					BTBD9_uc003ony.3_Missense_Mutation_p.L168V|BTBD9_uc010jwv.2_Missense_Mutation_p.L168V|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Missense_Mutation_p.L236V	p.L236V	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			5	1282	-			236			BACK.		Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	37	c.706C>G	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776644	0.70107	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.51	4.63	0.57726	BTB/Kelch-associated (2);	0.074362	0.56097	D	0.000026	T	0.66426	0.2788	L	0.46741	1.465	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.987	T	0.67138	-0.5746	10	0.36615	T	0.2	.	11.6037	0.51020	0.1445:0.0:0.8555:0.0	.	177;236	Q494V9;Q96Q07	.;BTBD9_HUMAN	V	168;236;177;236;168	ENSP00000323408:L168V;ENSP00000418751:L236V;ENSP00000415365:L177V;ENSP00000386121:L236V;ENSP00000386211:L168V	ENSP00000323408:L168V	L	-	1	2	BTBD9	38668438	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.092000	0.57707	1.444000	0.47605	0.563000	0.77884	CTG		PASS	0.468	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733		45	64	45	64	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38899745	38899745	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:38899745G>C	ENST00000359357.3	+	74	11036	c.10782G>C	c.(10780-10782)agG>agC	p.R3594S	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.R3811S|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3558S|RP1-207H1.3_ENST00000416948.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3594	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3594S(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTTACTAAGGAGAGTCATTC	0.348																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(10780-10782)AGG>AGC		dynein, axonemal, heavy polypeptide 8							85.0	83.0	84.0					6																	38899745		2203	4299	6502	SO:0001583	missense	1769							g.chr6:38899745G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10782G>C	6.37:g.38899745G>C	ENSP00000352312:p.Arg3594Ser					DNAH8_uc003oog.1_Missense_Mutation_p.R43S|uc003oof.1_Intron	p.R3594S	NM_001371	NP_001362					74	11382	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.10782G>C		.	.	.	.	.	.	.	.	.	.	G	14.40	2.524846	0.44969	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20332	2.08;2.08;2.08	5.76	3.63	0.41609	.	0.049362	0.85682	D	0.000000	T	0.02193	0.0068	N	0.00403	-1.54	0.38459	D	0.947166	B;B	0.25667	0.108;0.131	B;B	0.32393	0.089;0.145	T	0.15378	-1.0439	10	0.44086	T	0.13	.	7.1987	0.25868	0.3249:0.0:0.6751:0.0	.	3558;3594	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	S	3799;3799;3594;3558	ENSP00000333363:R3799S;ENSP00000352312:R3594S;ENSP00000402294:R3558S	ENSP00000333363:R3799S	R	+	3	2	DNAH8	39007723	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.134000	0.31442	1.581000	0.49865	-0.143000	0.13931	AGG		PASS	0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		24	88	24	88	---	---	---	---
KCNK17	89822	broad.mit.edu	37	6	39271838	39271838	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:39271838G>A	ENST00000373231.4	-	4	815	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	KCNK17_ENST00000453413.2_Silent_p.L195L	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	195					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.L195L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						AGCGGTGGCAGCAGCAGGAAG	0.647																																						uc003ooo.2																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(583-585)CTG>TTG		potassium channel, subfamily K, member 17							65.0	67.0	66.0					6																	39271838		2203	4300	6503	SO:0001819	synonymous_variant	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39271838G>A	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.583C>T	6.37:g.39271838G>A						KCNK17_uc003oop.2_Silent_p.L195L	p.L195L	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			4	723	-			195			Helical; (Potential).		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Silent	SNP	ENST00000373231.4	37	c.583C>T	CCDS4842.1																																																																																				PASS	0.647	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		33	64	33	64	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43222319	43222319	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:43222319A>G	ENST00000259750.4	+	6	589	c.506A>G	c.(505-507)tAc>tGc	p.Y169C	TTBK1_ENST00000304139.5_Missense_Mutation_p.Y118C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y169C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCTCCACCTACAGGAAGTGC	0.662																																						uc003ouq.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(505-507)TAC>TGC		tau tubulin kinase 1							59.0	59.0	59.0					6																	43222319		2203	4300	6503	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43222319A>G	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.506A>G	6.37:g.43222319A>G	ENSP00000259750:p.Tyr169Cys						p.Y169C	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		6	785	+			169			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.506A>G	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.277360	0.23307	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.06371	3.31	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.355683	0.30302	N	0.009939	T	0.00580	0.0019	N	0.00337	-1.62	0.44834	D	0.997846	B	0.24882	0.113	B	0.24155	0.051	T	0.43877	-0.9364	10	0.05959	T	0.93	.	14.0546	0.64759	1.0:0.0:0.0:0.0	.	169	Q5TCY1	TTBK1_HUMAN	C	118;169;118	ENSP00000259750:Y169C	ENSP00000259750:Y169C	Y	+	2	0	TTBK1	43330297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.685000	0.46959	1.969000	0.57287	0.533000	0.62120	TAC		PASS	0.662	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			30	69	30	69	---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46827066	46827066	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:46827066G>C	ENST00000283296.7	-	17	2862	c.2574C>G	c.(2572-2574)atC>atG	p.I858M	GPR116_ENST00000545669.1_Missense_Mutation_p.I287M|GPR116_ENST00000362015.4_Missense_Mutation_p.I858M|GPR116_ENST00000456426.2_Missense_Mutation_p.I716M|GPR116_ENST00000265417.7_Missense_Mutation_p.I858M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	858					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I858M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTGGACTTGATTACCATGC	0.448																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2572-2574)ATC>ATG		G-protein coupled receptor 116 precursor							70.0	65.0	67.0					6																	46827066		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46827066G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2574C>G	6.37:g.46827066G>C	ENSP00000283296:p.Ile858Met					GPR116_uc011dwj.1_Missense_Mutation_p.I413M|GPR116_uc011dwk.1_Missense_Mutation_p.I287M|GPR116_uc003oyp.3_Missense_Mutation_p.I716M|GPR116_uc003oyq.3_Missense_Mutation_p.I858M|GPR116_uc010jzi.1_Missense_Mutation_p.I530M	p.I858M	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	2863	-			858			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2574C>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624053	0.28889	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.58	-5.5	0.02576	.	0.365383	0.26612	N	0.023419	T	0.36193	0.0958	L	0.57536	1.79	0.09310	N	1	D;P;P;P;P	0.55800	0.973;0.588;0.944;0.876;0.944	P;B;P;P;P	0.54401	0.751;0.206;0.564;0.669;0.564	T	0.46289	-0.9202	10	0.62326	D	0.03	-10.8399	7.2996	0.26413	0.1927:0.0756:0.5927:0.139	.	287;413;858;716;858	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	M	858;858;858;716;229;858;287	ENSP00000283296:I858M;ENSP00000354563:I858M;ENSP00000412866:I716M;ENSP00000265417:I858M;ENSP00000441581:I287M	ENSP00000265417:I858M	I	-	3	3	GPR116	46935025	0.021000	0.18746	0.004000	0.12327	0.190000	0.23558	0.148000	0.16224	-0.497000	0.06641	0.555000	0.69702	ATC		PASS	0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		3	83	3	83	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46979767	46979767	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:46979767G>T	ENST00000371253.2	-	10	1307	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	GPR110_ENST00000283297.5_Missense_Mutation_p.F167L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	364					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F364L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGGACACCCTGAAATGGCTGG	0.468																																						uc003oyt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1090-1092)TTC>TTA		G-protein coupled receptor 110 isoform 1							101.0	79.0	87.0					6																	46979767		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46979767G>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1092C>A	6.37:g.46979767G>T	ENSP00000360299:p.Phe364Leu					GPR110_uc011dwl.1_Missense_Mutation_p.F52L	p.F364L	NM_153840	NP_722582	Q5T601	GP110_HUMAN			10	1291	-			364			Extracellular (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1092C>A	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	G	9.222	1.033710	0.19590	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.29397	1.57;1.57	6.06	3.17	0.36434	.	0.542996	0.18081	N	0.152294	T	0.08133	0.0203	L	0.45137	1.4	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38802	-0.9644	10	0.11485	T	0.65	-5.2132	9.3164	0.37937	0.0:0.2872:0.5537:0.1591	.	364	Q5T601	GP110_HUMAN	L	364;364;167	ENSP00000360299:F364L;ENSP00000283297:F167L	ENSP00000283297:F167L	F	-	3	2	GPR110	47087726	0.724000	0.28038	0.013000	0.15412	0.848000	0.48234	1.350000	0.34010	0.368000	0.24481	0.650000	0.86243	TTC		PASS	0.468	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		11	54	11	54	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49698956	49698956	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:49698956C>A	ENST00000393666.1	-	6	536	c.530G>T	c.(529-531)tGg>tTg	p.W177L	CRISP3_ENST00000423399.2_Missense_Mutation_p.W87L|CRISP3_ENST00000263045.4_Missense_Mutation_p.W190L|CRISP3_ENST00000433368.2_Missense_Mutation_p.W200L|CRISP3_ENST00000371159.4_Missense_Mutation_p.W208L			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	177					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.W177L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TCTATTAGCCCAATTACCACT	0.343																																						uc003ozs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(529-531)TGG>TTG		cysteine-rich secretory protein 3 precursor							87.0	81.0	83.0					6																	49698956		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49698956C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.530G>T	6.37:g.49698956C>A	ENSP00000377274:p.Trp177Leu						p.W177L	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		7	545	-	Lung NSC(77;0.0161)		177					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.530G>T		.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068922	0.07228	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.39406	3.07;3.07;3.07;1.08;3.07	4.86	-9.72	0.00515	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (2);	0.945738	0.08643	U	0.915272	T	0.05960	0.0155	N	0.16656	0.425	0.21802	N	0.999533	B	0.02656	0.0	B	0.01281	0.0	T	0.23440	-1.0188	10	0.16420	T	0.52	.	7.4099	0.27011	0.5187:0.0877:0.0:0.3936	.	177	P54108	CRIS3_HUMAN	L	190;200;177;87;208	ENSP00000263045:W190L;ENSP00000389026:W200L;ENSP00000377274:W177L;ENSP00000410469:W87L;ENSP00000360201:W208L	ENSP00000263045:W190L	W	-	2	0	CRISP3	49806915	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.982000	0.03762	-1.677000	0.01455	-0.500000	0.04577	TGG		PASS	0.343	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		40	71	40	71	---	---	---	---
TFAP2B	7021	broad.mit.edu	37	6	50791151	50791151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:50791151C>A	ENST00000393655.3	+	2	282	c.113C>A	c.(112-114)tCg>tAg	p.S38*	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000263046.4_Nonsense_Mutation_p.S47*	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	38					aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S38*(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCACAGCTCGCGGCTCTCC	0.652																																					Pancreas(116;1373 2332 5475 10752)	uc003pag.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(112-114)TCG>TAG		transcription factor AP-2 beta							10.0	13.0	12.0					6																	50791151		2190	4288	6478	SO:0001587	stop_gained	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50791151C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.113C>A	6.37:g.50791151C>A	ENSP00000377265:p.Ser38*						p.S38*	NM_003221	NP_003212	Q92481	AP2B_HUMAN			2	279	+	Lung NSC(77;0.156)		38					Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Nonsense_Mutation	SNP	ENST00000393655.3	37	c.113C>A	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	36	5.956757	0.97145	.	.	ENSG00000008196	ENST00000393655;ENST00000344788;ENST00000263046	.	.	.	5.29	4.4	0.53042	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-1.5955	15.8141	0.78586	0.0:0.8637:0.1363:0.0	.	.	.	.	X	38;36;47	.	ENSP00000263046:S47X	S	+	2	0	TFAP2B	50899110	1.000000	0.71417	0.393000	0.26258	0.989000	0.77384	7.709000	0.84645	1.196000	0.43129	0.563000	0.77884	TCG		PASS	0.652	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		5	14	5	14	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74533185	74533185	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:74533185G>A	ENST00000287097.5	+	33	4278	c.4166G>A	c.(4165-4167)aGa>aAa	p.R1389K	CD109_ENST00000422508.2_Missense_Mutation_p.R1312K|CD109_ENST00000437994.2_Missense_Mutation_p.R1372K			Q6YHK3	CD109_HUMAN	CD109 molecule	1389					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.R1389K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACAGGGAGACAGGCTGTG	0.468																																						uc003php.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(4165-4167)AGA>AAA		CD109 antigen isoform 1 precursor							106.0	90.0	96.0					6																	74533185		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74533185G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.4166G>A	6.37:g.74533185G>A	ENSP00000287097:p.Arg1389Lys					CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.R1372K|CD109_uc010kba.2_Missense_Mutation_p.R1312K	p.R1389K	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			33	4591	+			1389					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.4166G>A	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478385	0.44044	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.21543	2.0;2.0;2.0	4.49	4.49	0.54785	Alpha-macroglobulin, receptor-binding (3);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	L	0.45352	1.415	0.40015	D	0.975331	D;B;B	0.57899	0.981;0.198;0.392	P;B;B	0.52189	0.692;0.257;0.374	T	0.00783	-1.1568	10	0.41790	T	0.15	.	15.8827	0.79216	0.0:0.0:1.0:0.0	.	1312;1372;1389	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	K	1372;1312;1389	ENSP00000388062:R1372K;ENSP00000404475:R1312K;ENSP00000287097:R1389K	ENSP00000287097:R1389K	R	+	2	0	CD109	74589905	1.000000	0.71417	0.997000	0.53966	0.099000	0.18886	5.719000	0.68462	2.485000	0.83878	0.467000	0.42956	AGA		PASS	0.468	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		22	30	22	30	---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88769180	88769180	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:88769180A>G	ENST00000237201.1	+	5	601	c.484A>G	c.(484-486)Ata>Gta	p.I162V	SPACA1_ENST00000462690.1_3'UTR	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	162					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)		p.I162V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		GCAATCCATTATACTTGTAAA	0.333																																						uc003pmn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)ATA>GTA		sperm acrosome associated 1 precursor							47.0	47.0	47.0					6																	88769180		2203	4300	6503	SO:0001583	missense	81833					integral to membrane		g.chr6:88769180A>G	AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.484A>G	6.37:g.88769180A>G	ENSP00000237201:p.Ile162Val						p.I162V	NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.11)	5	601	+		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	162			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000237201.1	37	c.484A>G	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	7.598	0.672163	0.14776	.	.	ENSG00000118434	ENST00000237201	T	0.20463	2.07	5.41	-2.62	0.06152	.	0.494963	0.19513	N	0.112469	T	0.04588	0.0125	N	0.25426	0.745	0.19300	N	0.999972	B	0.02656	0.0	B	0.04013	0.001	T	0.27806	-1.0063	10	0.25751	T	0.34	-6.6524	15.6678	0.77247	0.8909:0.0:0.1091:0.0	.	162	Q9HBV2	SACA1_HUMAN	V	162	ENSP00000237201:I162V	ENSP00000237201:I162V	I	+	1	0	SPACA1	88825899	0.319000	0.24607	0.458000	0.27068	0.648000	0.38561	0.019000	0.13444	-1.217000	0.02604	-0.197000	0.12766	ATA		PASS	0.333	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1			11	22	11	22	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A	rs202219343		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:123687319G>A	ENST00000398178.3	-	20	1303	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_ENST00000334268.4_Nonsense_Mutation_p.R428*	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	428					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303																																						uc003pzj.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1282-1284)CGA>TGA		triadin		G	stop/ARG	2,3640		0,2,1819	84.0	81.0	82.0		1282	4.7	0.8	6		82	6,8162		0,6,4078	yes	stop-gained	TRDN	NM_006073.2		0,8,5897	AA,AG,GG		0.0735,0.0549,0.0677		428/730	123687319	8,11802	1821	4084	5905	SO:0001587	stop_gained	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123687319G>A	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1282C>T	6.37:g.123687319G>A	ENSP00000381240:p.Arg428*					TRDN_uc003pzk.1_Nonsense_Mutation_p.R429*|TRDN_uc003pzl.1_Nonsense_Mutation_p.R429*|TRDN_uc010kem.1_Translation_Start_Site	p.R428*	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	20	1304	-			428			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Nonsense_Mutation	SNP	ENST00000398178.3	37	c.1282C>T	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858900	0.91433	5.49E-4	7.35E-4	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	.	.	.	5.55	4.66	0.58398	.	0.511596	0.16577	N	0.208343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.114	11.1506	0.48455	0.0:0.0:0.7987:0.2013	.	.	.	.	X	428;430;428	.	ENSP00000333984:R428X	R	-	1	2	TRDN	123729018	0.921000	0.31238	0.807000	0.32361	0.308000	0.27856	1.628000	0.37060	1.507000	0.48752	0.655000	0.94253	CGA		PASS	0.303	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				16	25	16	25	---	---	---	---
NKAIN2	154215	broad.mit.edu	37	6	125139577	125139577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:125139577C>T	ENST00000368417.1	+	6	640	c.580C>T	c.(580-582)Cag>Tag	p.Q194*	NKAIN2_ENST00000545433.1_Nonsense_Mutation_p.Q179*|NKAIN2_ENST00000546092.1_Nonsense_Mutation_p.Q127*	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q194*(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TCAAGGGCCTCAGAAGACATC	0.363																																						uc003pzo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(580-582)CAG>TAG		T-cell lymphoma breakpoint-associated target 1							140.0	131.0	134.0					6																	125139577		2203	4300	6503	SO:0001587	stop_gained	154215					integral to membrane|plasma membrane		g.chr6:125139577C>T	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.580C>T	6.37:g.125139577C>T	ENSP00000357402:p.Gln194*					NKAIN2_uc003pzp.2_Nonsense_Mutation_p.Q193*|NKAIN2_uc010keq.2_Nonsense_Mutation_p.Q127*|NKAIN2_uc010ker.2_Nonsense_Mutation_p.Q104*	p.Q194*	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	6	857	+			194					Q8IYR4|Q8TF67	Nonsense_Mutation	SNP	ENST00000368417.1	37	c.580C>T	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496030	0.85069	.	.	ENSG00000188580	ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	.	.	.	6.17	6.17	0.99709	.	0.322752	0.28476	N	0.015220	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.8053	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	194;127;193;179	.	ENSP00000357402:Q194X	Q	+	1	0	NKAIN2	125181276	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.433000	0.80362	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.363	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214		7	69	7	69	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130370465	130370465	+	Silent	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:130370465A>G	ENST00000529410.1	+	6	620	c.141A>G	c.(139-141)acA>acG	p.T47T	L3MBTL3_ENST00000368139.2_Silent_p.T47T|L3MBTL3_ENST00000526019.1_Silent_p.T47T|L3MBTL3_ENST00000361794.2_Silent_p.T47T|L3MBTL3_ENST00000533560.1_Silent_p.T47T|L3MBTL3_ENST00000368136.2_Silent_p.T47T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	47					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T47T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGTTATTACAGATGAGAATG	0.378																																						uc003qbt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(139-141)ACA>ACG		l(3)mbt-like 3 isoform a							95.0	93.0	94.0					6																	130370465		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130370465A>G	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.141A>G	6.37:g.130370465A>G						L3MBTL3_uc003qbu.2_Silent_p.T47T	p.T47T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	4	311	+			47					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.141A>G	CCDS34537.1																																																																																				PASS	0.378	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		21	40	21	40	---	---	---	---
ARG1	383	broad.mit.edu	37	6	131902484	131902484	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:131902484C>T	ENST00000368087.3	+	4	570	c.431C>T	c.(430-432)cCt>cTt	p.P144L	ARG1_ENST00000356962.2_Missense_Mutation_p.P152L|MED23_ENST00000354577.4_Intron			P05089	ARGI1_HUMAN	arginase 1	144					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)	p.P144L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	CATGGACAACCTGTATCTTTC	0.453																																						uc003qcp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)CCT>CTT		arginase 1	L-Ornithine(DB00129)						85.0	64.0	71.0					6																	131902484		2203	4300	6503	SO:0001583	missense	383				arginine catabolic process|urea cycle	cytosol	arginase activity	g.chr6:131902484C>T		CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.431C>T	6.37:g.131902484C>T	ENSP00000357066:p.Pro144Leu					ARG1_uc003qco.1_Missense_Mutation_p.P144L|ARG1_uc010kfm.1_Missense_Mutation_p.P152L|MED23_uc003qcq.2_Intron	p.P144L	NM_000045	NP_000036	P05089	ARGI1_HUMAN		GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	4	489	+	Breast(56;0.0753)		144					A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	Missense_Mutation	SNP	ENST00000368087.3	37	c.431C>T	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247540	0.95305	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.86432	-2.12;-2.12;-2.12	5.88	5.88	0.94601	Ureohydrolase domain (1);	0.104523	0.64402	D	0.000003	D	0.96318	0.8799	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.97476	1.0044	10	0.87932	D	0	-14.1074	17.7218	0.88353	0.0:1.0:0.0:0.0	.	152;144	P05089-2;P05089	.;ARGI1_HUMAN	L	144;152;144	ENSP00000357066:P144L;ENSP00000349446:P152L;ENSP00000417694:P144L	ENSP00000349446:P152L	P	+	2	0	ARG1	131944177	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.496000	0.81526	2.778000	0.95560	0.655000	0.94253	CCT		PASS	0.453	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042223.1			15	27	15	27	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132892144	132892144	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:132892144G>A	ENST00000275198.1	+	1	684	c.684G>A	c.(682-684)gcG>gcA	p.A228A		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	228			A -> V (in dbSNP:rs17061409). {ECO:0000269|PubMed:15329799}.		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.A228A(2)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GACGACAGGCGAAAAAGATAG	0.403																																						uc011eck.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(2)|skin(1)	3						c.(682-684)GCG>GCA		trace amine associated receptor 6							59.0	60.0	59.0					6																	132892144		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132892144G>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.684G>A	6.37:g.132892144G>A							p.A228A	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	684	+	Breast(56;0.112)		228			Cytoplasmic (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.684G>A	CCDS5155.1																																																																																				PASS	0.403	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		18	29	18	29	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151121912	151121912	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:151121912G>A	ENST00000358517.2	+	6	898	c.687G>A	c.(685-687)agG>agA	p.R229R	PLEKHG1_ENST00000367328.1_Silent_p.R229R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	229	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R229R(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AATTCTTCAGGGAGCGTCAGG	0.448																																						uc003qny.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(685-687)AGG>AGA		pleckstrin homology domain containing, family G							126.0	124.0	125.0					6																	151121912		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121912G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.687G>A	6.37:g.151121912G>A						PLEKHG1_uc011eel.1_Silent_p.R269R|PLEKHG1_uc011eem.1_Silent_p.R288R|PLEKHG1_uc003qnz.2_Silent_p.R229R	p.R229R	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	999	+			229			DH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.687G>A	CCDS34552.1																																																																																				PASS	0.448	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			32	44	32	44	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1512808	1512808	+	Silent	SNP	G	G	A	rs138397380	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:1512808G>A	ENST00000404767.3	-	43	6055	c.5970C>T	c.(5968-5970)ttC>ttT	p.F1990F	INTS1_ENST00000389470.4_Silent_p.F2194F	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1990					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.F2194F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CACTGTTGTCGAAGGACAGGT	0.627																																						uc003skn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(5968-5970)TTC>TTT		integrator complex subunit 1							46.0	50.0	48.0					7																	1512808		2116	4231	6347	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1512808G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5970C>T	7.37:g.1512808G>A						INTS1_uc003skm.1_Silent_p.F127F	p.F1990F	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	43	6071	-		Ovarian(82;0.0253)	1990					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.5970C>T	CCDS47526.1																																																																																				PASS	0.627	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			8	49	8	49	---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6077058	6077058	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:6077058C>G	ENST00000199389.6	-	11	1475	c.1329G>C	c.(1327-1329)ctG>ctC	p.L443L	EIF2AK1_ENST00000536084.1_Silent_p.L319L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	443	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.L443L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CACTTACCTTCAGATCTCGGT	0.383																																						uc003spp.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(1327-1329)CTG>CTC		eukaryotic translation initiation factor 2-alpha							199.0	180.0	187.0					7																	6077058		2203	4300	6503	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6077058C>G	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1329G>C	7.37:g.6077058C>G						EIF2AK1_uc003spq.2_Silent_p.L442L|EIF2AK1_uc011jwm.1_Silent_p.L319L	p.L443L	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	11	1475	-		Ovarian(82;0.0423)	443			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.1329G>C	CCDS5345.1																																																																																				PASS	0.383	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		10	122	10	122	---	---	---	---
AGMO	392636	broad.mit.edu	37	7	15405803	15405803	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:15405803G>A	ENST00000342526.3	-	11	1288	c.1119C>T	c.(1117-1119)atC>atT	p.I373I		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	373					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.I373I(1)		breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCAAGGTCAGGATAATGAAGC	0.388																																						uc003stb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1117-1119)ATC>ATT		transmembrane protein 195							49.0	44.0	45.0					7																	15405803		2202	4299	6501	SO:0001819	synonymous_variant	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.chr7:15405803G>A		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.1119C>T	7.37:g.15405803G>A							p.I373I	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			11	1289	-			373			Helical; (Potential).		A4D114|A6NCH5	Silent	SNP	ENST00000342526.3	37	c.1119C>T	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	4.769	0.142967	0.09083	.	.	ENSG00000187546	ENST00000407277	.	.	.	6.07	-0.276	0.12902	.	.	.	.	.	T	0.41328	0.1154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-13.2222	1.38	0.02228	0.2539:0.1085:0.4148:0.2229	.	.	.	.	S	4	.	.	P	-	1	0	AGMO	15372328	0.998000	0.40836	0.893000	0.35052	0.354000	0.29330	0.203000	0.17315	-0.347000	0.08299	-0.839000	0.03059	CCT		PASS	0.388	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		3	21	3	21	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21760441	21760441	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:21760441C>G	ENST00000409508.3	+	44	7264	c.7233C>G	c.(7231-7233)atC>atG	p.I2411M	DNAH11_ENST00000328843.6_Missense_Mutation_p.I2418M	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2418					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.I2418M(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGCTTGTATCTGGGCTTTTG	0.423									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7252-7254)ATC>ATG		dynein, axonemal, heavy chain 11							80.0	75.0	77.0					7																	21760441		1861	4110	5971	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21760441C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7233C>G	7.37:g.21760441C>G	ENSP00000475939:p.Ile2411Met						p.I2418M	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			45	7285	+			2418					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7254C>G		.	.	.	.	.	.	.	.	.	.	C	15.15	2.749385	0.49257	.	.	ENSG00000105877	ENST00000328843	T	0.26810	1.71	5.76	3.0	0.34707	.	0.437427	0.26227	N	0.025593	T	0.22475	0.0542	.	.	.	0.34685	D	0.725169	P	0.40398	0.716	P	0.45071	0.468	T	0.24584	-1.0156	9	0.20519	T	0.43	.	7.5033	0.27530	0.0:0.5999:0.256:0.1441	.	2418	Q96DT5	DYH11_HUMAN	M	2418	ENSP00000330671:I2418M	ENSP00000330671:I2418M	I	+	3	3	DNAH11	21726966	0.988000	0.35896	0.996000	0.52242	0.869000	0.49853	0.294000	0.19047	0.363000	0.24346	0.655000	0.94253	ATC		PASS	0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	65	4	65	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44555412	44555412	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:44555412G>A	ENST00000289547.4	-	19	3922	c.3867C>T	c.(3865-3867)ctC>ctT	p.L1289L	NPC1L1_ENST00000546276.1_Silent_p.L1216L|NPC1L1_ENST00000381160.3_Silent_p.L1262L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1289					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.L1289L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCACGTAGCTGAGGATGACGG	0.547																																						uc003tlb.2																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3865-3867)CTC>CTT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						80.0	77.0	78.0					7																	44555412		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44555412G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3867C>T	7.37:g.44555412G>A						NPC1L1_uc003tlc.2_Silent_p.L1262L|NPC1L1_uc011kbw.1_Silent_p.L1216L|NPC1L1_uc003tla.2_Intron	p.L1289L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			19	3923	-			1289			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.3867C>T	CCDS5491.1																																																																																				PASS	0.547	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		6	81	6	81	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45725805	45725805	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:45725805C>T	ENST00000297323.7	+	13	2340	c.2318C>T	c.(2317-2319)aCc>aTc	p.T773I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	773					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.T773I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGCGGATACACCAGGACTGGG	0.522																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2317-2319)ACC>ATC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						73.0	72.0	72.0					7																	45725805		2202	4299	6501	SO:0001583	missense	107				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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725805C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2318C>T	7.37:g.45725805C>T	ENSP00000297323:p.Thr773Ile						p.T773I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			13	2336	+			773			Helical; (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2318C>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478841	0.26511	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79749	-1.3	3.95	0.682	0.17992	.	0.281160	0.32640	N	0.005823	T	0.65709	0.2717	L	0.36672	1.1	0.27684	N	0.946344	B	0.24317	0.101	B	0.23275	0.045	T	0.50524	-0.8818	10	0.22109	T	0.4	.	6.7149	0.23298	0.0:0.3982:0.4904:0.1114	.	773	Q08828	ADCY1_HUMAN	I	773	ENSP00000297323:T773I	ENSP00000297323:T773I	T	+	2	0	ADCY1	45692330	1.000000	0.71417	0.012000	0.15200	0.740000	0.42216	3.649000	0.54417	0.383000	0.24910	0.462000	0.41574	ACC		PASS	0.522	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		34	97	34	97	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48319431	48319431	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:48319431C>G	ENST00000435803.1	+	18	8664	c.8640C>G	c.(8638-8640)ttC>ttG	p.F2880L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2880					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F2880L(1)|p.F2825L(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTATAGTTTCAAACCATTTT	0.338																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(8638-8640)TTC>TTG		ATP binding cassette, sub-family A (ABC1),							72.0	75.0	75.0					7																	48319431		1804	4075	5879	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48319431C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8640C>G	7.37:g.48319431C>G	ENSP00000411096:p.Phe2880Leu					ABCA13_uc010kys.1_5'Flank	p.F2880L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			18	8665	+			2880					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8640C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666097	0.14710	.	.	ENSG00000179869	ENST00000435803	T	0.54071	0.59	5.29	1.38	0.22167	.	0.491879	0.17044	N	0.189193	T	0.23727	0.0574	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24476	-1.0159	10	0.05436	T	0.98	.	4.3522	0.11160	0.1562:0.582:0.0:0.2617	.	2880	Q86UQ4	ABCAD_HUMAN	L	2880	ENSP00000411096:F2880L	ENSP00000411096:F2880L	F	+	3	2	ABCA13	48289977	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.316000	0.08071	0.222000	0.20900	0.650000	0.86243	TTC		PASS	0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		52	74	52	74	---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86509809	86509809	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:86509809G>A	ENST00000450689.2	-	22	3253	c.3068C>T	c.(3067-3069)aCc>aTc	p.T1023I	KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T856I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T952I|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T783I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1023						integral component of membrane (GO:0016021)		p.T1023I(1)|p.T783I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATCTTGAGGTTTTCAGTTG	0.338																																						uc011kha.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(1)	7						c.(3067-3069)ACC>ATC		hypothetical protein LOC222223 isoform 1							134.0	127.0	130.0					7																	86509809		2202	4299	6501	SO:0001583	missense	222223					integral to membrane		g.chr7:86509809G>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.3068C>T	7.37:g.86509809G>A	ENSP00000413445:p.Thr1023Ile					KIAA1324L_uc003uif.1_Missense_Mutation_p.T783I|KIAA1324L_uc011kgz.1_Missense_Mutation_p.T909I|KIAA1324L_uc003uie.2_Missense_Mutation_p.T856I	p.T1023I	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			22	3253	-	Esophageal squamous(14;0.0058)		1023			Cytoplasmic (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.3068C>T	CCDS47632.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942452	0.53079	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.18174	2.49;2.24;2.23;2.24	5.75	5.75	0.90469	.	0.058137	0.64402	D	0.000001	T	0.16171	0.0389	N	0.14661	0.345	0.30389	N	0.781177	B;B;B	0.25486	0.127;0.001;0.001	B;B;B	0.34536	0.185;0.0;0.0	T	0.13656	-1.0501	10	0.66056	D	0.02	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	1023;783;856	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	1023;783;952;856	ENSP00000413445:T1023I;ENSP00000297222:T783I;ENSP00000397377:T952I;ENSP00000402390:T856I	ENSP00000297222:T783I	T	-	2	0	KIAA1324L	86347745	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.679000	0.74513	2.728000	0.93425	0.650000	0.86243	ACC		PASS	0.338	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		27	66	27	66	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91699518	91699518	+	Nonsense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:91699518A>T	ENST00000359028.2	+	28	6766	c.6541A>T	c.(6541-6543)Aag>Tag	p.K2181*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K2181*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K2169*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2181	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K2169*(1)|p.K2181*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TACTTTTCAAAAGGTGTGGCA	0.328			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - Nonsense(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(6505-6507)AAG>TAG		A-kinase anchor protein 9 isoform 2							98.0	106.0	104.0					7																	91699518		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91699518A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6541A>T	7.37:g.91699518A>T	ENSP00000351922:p.Lys2181*					AKAP9_uc003ulf.2_Intron|AKAP9_uc003uli.2_Nonsense_Mutation_p.K1792*|AKAP9_uc003ulj.2_Intron	p.K2169*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		27	6730	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2181			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.6505A>T		.	.	.	.	.	.	.	.	.	.	A	49	15.374477	0.99831	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7522	0.69533	1.0:0.0:0.0:0.0	.	.	.	.	X	2169;2181;2181	.	ENSP00000348573:K2169X	K	+	1	0	AKAP9	91537454	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	4.717000	0.61923	2.141000	0.66446	0.455000	0.32223	AAG		PASS	0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		27	109	27	109	---	---	---	---
ASB4	51666	broad.mit.edu	37	7	95115428	95115428	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:95115428G>C	ENST00000325885.5	+	1	216	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	ASB4_ENST00000428113.1_Missense_Mutation_p.E49Q|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	49					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.E49Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CACTGTTTTTGAAGTCGAAGA	0.328																																						uc011kij.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(145-147)GAA>CAA		ankyrin repeat and SOCS box-containing protein 4							92.0	95.0	94.0					7																	95115428		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95115428G>C	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.145G>C	7.37:g.95115428G>C	ENSP00000321388:p.Glu49Gln					ASB4_uc003unx.2_Missense_Mutation_p.E49Q	p.E49Q	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		1	145	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		49					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.145G>C	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396133	0.62177	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.54071	0.81;0.59	5.17	5.17	0.71159	Ankyrin repeat-containing domain (1);	0.222109	0.46145	N	0.000311	T	0.60637	0.2284	N	0.24115	0.695	0.58432	D	0.99999	P;D	0.76494	0.691;0.999	B;D	0.70487	0.259;0.969	T	0.59757	-0.7394	10	0.41790	T	0.15	-30.1347	19.3004	0.94141	0.0:0.0:1.0:0.0	.	49;49	Q9Y574;Q14D68	ASB4_HUMAN;.	Q	49	ENSP00000321388:E49Q;ENSP00000397070:E49Q	ENSP00000321388:E49Q	E	+	1	0	ASB4	94953364	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.431000	0.90285	2.878000	0.98634	0.650000	0.86243	GAA		PASS	0.328	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		5	134	5	134	---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95751219	95751219	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:95751219C>G	ENST00000265631.5	-	16	1818	c.1682G>C	c.(1681-1683)gGa>gCa	p.G561A	SLC25A13_ENST00000542654.1_Missense_Mutation_p.G453A|SLC25A13_ENST00000416240.2_Missense_Mutation_p.G562A|SLC25A13_ENST00000494085.1_5'UTR			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	561					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.G561A(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTCTATCACTCCGCTGTAAGT	0.483																																						uc003uof.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|skin(1)	4						c.(1681-1683)GGA>GCA		solute carrier family 25, member 13 isoform 2	L-Aspartic Acid(DB00128)						120.0	114.0	116.0					7																	95751219		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95751219C>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1682G>C	7.37:g.95751219C>G	ENSP00000265631:p.Gly561Ala					SLC25A13_uc003uog.3_Missense_Mutation_p.G562A|SLC25A13_uc011kik.1_Missense_Mutation_p.G453A	p.G561A	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		16	1873	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		561			Solcar 3.		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1682G>C	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707542	0.89018	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.81330	-1.48;-1.48;-1.48	5.04	5.04	0.67666	Mitochondrial carrier domain (2);	0.134339	0.50627	D	0.000118	D	0.90573	0.7045	M	0.83384	2.64	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.76575	0.98;0.988;0.988	D	0.91523	0.5236	10	0.87932	D	0	-15.7718	18.9657	0.92695	0.0:1.0:0.0:0.0	.	453;562;561	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	A	561;562;453	ENSP00000265631:G561A;ENSP00000400101:G562A;ENSP00000440484:G453A	ENSP00000265631:G561A	G	-	2	0	SLC25A13	95589155	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	7.651000	0.83577	2.786000	0.95864	0.561000	0.74099	GGA		PASS	0.483	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		31	104	31	104	---	---	---	---
ZKSCAN1	7586	broad.mit.edu	37	7	99631580	99631580	+	Silent	SNP	G	G	T	rs184051052	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:99631580G>T	ENST00000324306.6	+	6	1686	c.1452G>T	c.(1450-1452)acG>acT	p.T484T	ZKSCAN1_ENST00000426572.1_Silent_p.T448T|ZKSCAN1_ENST00000535170.1_Silent_p.T271T	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	484					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.T484T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAATTCACACGGGGGAGAAAC	0.473																																						uc003usk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1450-1452)ACG>ACT		zinc finger protein 36							75.0	83.0	80.0					7																	99631580		2203	4300	6503	SO:0001819	synonymous_variant	7586				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99631580G>T	X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1452G>T	7.37:g.99631580G>T						ZKSCAN1_uc003usl.1_Silent_p.T448T|ZKSCAN1_uc003usm.1_Silent_p.T271T	p.T484T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1671	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		484					A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	c.1452G>T	CCDS34698.1																																																																																				PASS	0.473	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2	NM_003439		32	99	32	99	---	---	---	---
ZCWPW1	55063	broad.mit.edu	37	7	99998905	99998905	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:99998905G>A	ENST00000398027.2	-	18	1926	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	ZCWPW1_ENST00000360951.4_Nonsense_Mutation_p.Q490*|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S389L|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S389L	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	560							zinc ion binding (GO:0008270)	p.S560L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTTCCCTCTGAAAAGCTGGC	0.512																																						uc003uut.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1678-1680)TCA>TTA		zinc finger, CW type with PWWP domain 1							53.0	51.0	52.0					7																	99998905		1861	4093	5954	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998905G>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1679C>T	7.37:g.99998905G>A	ENSP00000381109:p.Ser560Leu					ZCWPW1_uc011kjq.1_Missense_Mutation_p.S440L|ZCWPW1_uc003uur.2_Nonsense_Mutation_p.Q369*|ZCWPW1_uc003uus.2_Missense_Mutation_p.S389L|ZCWPW1_uc011kjr.1_Nonsense_Mutation_p.Q489*|ZCWPW1_uc011kjp.1_RNA	p.S560L	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			18	1927	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		560					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1679C>T	CCDS43623.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	28.9|28.9|28.9	4.960637|4.960637|4.960637	0.92791|0.92791|0.92791	.|.|.	.|.|.	ENSG00000233389|ENSG00000078487|ENSG00000078487	ENST00000449355|ENST00000360951;ENST00000471336|ENST00000398027;ENST00000490721;ENST00000324725	.|.|T;T;T	.|.|0.58210	.|.|0.7;0.35;0.35	5.22|5.22|5.22	4.34|4.34|4.34	0.51931|0.51931|0.51931	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|T	0.49558|.|0.49558	0.1564|.|0.1564	L|L|L	0.34521|0.34521|0.34521	1.04|1.04|1.04	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|P;P;P	.|.|0.52842	.|.|0.926;0.799;0.956	.|.|P;B;P	.|.|0.51016	.|.|0.454;0.252;0.656	T|.|T	0.31724|.|0.31724	-0.9933|.|-0.9933	5|.|8	.|.|.	.|.|.	.|.|.	-2.357|-2.357|-2.357	9.6457|9.6457|9.6457	0.39865|0.39865|0.39865	0.0937:0.0:0.9063:0.0|0.0937:0.0:0.9063:0.0|0.0937:0.0:0.9063:0.0	.|.|.	.|.|521;560;389	.|.|B4DXS7;Q9H0M4;Q9H0M4-4	.|.|.;ZCPW1_HUMAN;.	K|X|L	59|490;212|560;389;389	.|.|ENSP00000381109:S560L;ENSP00000419187:S389L;ENSP00000314880:S389L	.|.|.	E|Q|S	+|-|-	1|1|2	0|0|0	AC005071.3|ZCWPW1|ZCWPW1	99836841|99836841|99836841	0.156000|0.156000|0.156000	0.22821|0.22821|0.22821	0.035000|0.035000|0.035000	0.18076|0.18076|0.18076	0.035000|0.035000|0.035000	0.12851|0.12851|0.12851	1.793000|1.793000|1.793000	0.38764|0.38764|0.38764	1.579000|1.579000|1.579000	0.49836|0.49836|0.49836	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|CAG|TCA		PASS	0.512	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984		14	100	14	100	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122027211	122027211	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:122027211C>G	ENST00000449022.2	-	24	3200	c.3181G>C	c.(3181-3183)Gaa>Caa	p.E1061Q	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.E1059Q|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.E1015Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E1015Q	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1061	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.E1058Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGCTTGAGTTCAAATGCAGTT	0.363																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3181-3183)GAA>CAA		Ca2+-dependent activator protein for secretion 2							94.0	87.0	90.0					7																	122027211		1893	4122	6015	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122027211C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3181G>C	7.37:g.122027211C>G	ENSP00000398481:p.Glu1061Gln					CADPS2_uc011knx.1_Missense_Mutation_p.E436Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E715Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E1015Q	p.E1061Q	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			23	3344	-			1061			Interaction with DRD2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.3181G>C	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	16.09|16.09|16.09	3.025266|3.025266|3.025266	0.54683|0.54683|0.54683	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699|ENST00000397721	T;T;T;T|.|.	0.32753|.|.	1.44;1.44;1.44;1.44|.|.	5.73|5.73|5.73	5.73|5.73|5.73	0.89815|0.89815|0.89815	.|.|.	0.058318|.|.	0.64402|.|.	D|.|.	0.000002|.|.	T|T|.	0.66616|0.66616|.	0.2807|0.2807|.	L|L|L	0.39085|0.39085|0.39085	1.19|1.19|1.19	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	P;B;P;B|.|.	0.41748|.|.	0.761;0.057;0.761;0.435|.|.	B;B;B;B|.|.	0.38803|.|.	0.282;0.037;0.282;0.157|.|.	T|T|.	0.60662|0.60662|.	-0.7219|-0.7219|.	10|5|.	0.28530|.|.	T|.|.	0.3|.|.	-23.2658|-23.2658|-23.2658	19.8942|19.8942|19.8942	0.96945|0.96945|0.96945	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	1065;1015;1061;1015|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	Q|F|S	234;1015;1059;1066;982;1015;1061|254|663	ENSP00000325581:E1015Q;ENSP00000333940:E1059Q;ENSP00000400401:E1015Q;ENSP00000398481:E1061Q|.|.	ENSP00000325581:E1015Q|.|.	E|L|X	-|-|-	1|3|2	0|2|2	CADPS2|CADPS2|CADPS2	121814447|121814447|121814447	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.487000|7.487000|7.487000	0.81328|0.81328|0.81328	2.704000|2.704000|2.704000	0.92352|0.92352|0.92352	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|TTG|TGA		PASS	0.363	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		3	17	3	17	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122056162	122056162	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:122056162C>G	ENST00000449022.2	-	18	2552	c.2533G>C	c.(2533-2535)Gag>Cag	p.E845Q	RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000334010.7_Missense_Mutation_p.E846Q|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.E842Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.E842Q	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	845	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.E845Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATGCAGAGCTCTGCCAGATGA	0.388																																						uc010lkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2533-2535)GAG>CAG		Ca2+-dependent activator protein for secretion 2							60.0	58.0	59.0					7																	122056162		1849	4096	5945	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122056162C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2533G>C	7.37:g.122056162C>G	ENSP00000398481:p.Glu845Gln					CADPS2_uc011knx.1_Missense_Mutation_p.E223Q|CADPS2_uc003vkg.3_Missense_Mutation_p.E542Q|CADPS2_uc010lkq.2_Missense_Mutation_p.E842Q	p.E845Q	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			17	2696	-			845			Interaction with DRD2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.2533G>C	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.1|28.1|28.1	4.890880|4.890880|4.890880	0.91889|0.91889|0.91889	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699|ENST00000397721	T;T;T;T|.|.	0.54071|.|.	0.6;0.61;0.6;0.59|.|.	5.86|5.86|5.86	5.86|5.86|5.86	0.93980|0.93980|0.93980	Calcium-dependent secretion activator (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.77824|0.77824|0.77824	0.4188|0.4188|0.4188	M|M|M	0.73598|0.73598|0.73598	2.24|2.24|2.24	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.76494|.|.	0.999;0.999;0.999;0.996|.|.	D;D;D;D|.|.	0.85130|.|.	0.997;0.979;0.997;0.991|.|.	T|T|T	0.75648|0.75648|0.75648	-0.3245|-0.3245|-0.3245	10|5|5	0.87932|.|.	D|.|.	0|.|.	-19.1398|-19.1398|-19.1398	20.1813|20.1813|20.1813	0.98205|0.98205|0.98205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	852;842;845;842|.|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.|.	.;.;CAPS2_HUMAN;.|.|.	Q|H|T	18;842;846;853;809;842;845|38|490	ENSP00000325581:E842Q;ENSP00000333940:E846Q;ENSP00000400401:E842Q;ENSP00000398481:E845Q|.|.	ENSP00000325581:E842Q|.|.	E|Q|R	-|-|-	1|3|2	0|2|0	CADPS2|CADPS2|CADPS2	121843398|121843398|121843398	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.072000|7.072000|7.072000	0.76777|0.76777|0.76777	2.763000|2.763000|2.763000	0.94921|0.94921|0.94921	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GAG|CAG|AGA		PASS	0.388	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		4	6	4	6	---	---	---	---
FAM180A	389558	broad.mit.edu	37	7	135418826	135418826	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:135418826G>T	ENST00000338588.3	-	3	684	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	FAM180A_ENST00000415751.1_Missense_Mutation_p.S140Y|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	140						extracellular region (GO:0005576)		p.S140Y(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATGGCCGTGGGACAGGGCTGT	0.617																																						uc003vtd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(418-420)TCC>TAC		hypothetical protein LOC389558 precursor							120.0	99.0	106.0					7																	135418826		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418826G>T	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.419C>A	7.37:g.135418826G>T	ENSP00000342336:p.Ser140Tyr					FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.S140Y	p.S140Y	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN			3	685	-			140					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.419C>A	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757451	0.69648	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.34275	1.37;1.37	5.65	5.65	0.86999	.	0.562591	0.20569	N	0.089770	T	0.42108	0.1188	L	0.56769	1.78	0.39928	D	0.97425	P	0.42203	0.773	P	0.45071	0.468	T	0.44019	-0.9355	10	0.87932	D	0	-28.2764	12.2068	0.54356	0.0:0.0:0.8298:0.1702	.	140	Q6UWF9	F180A_HUMAN	Y	140	ENSP00000342336:S140Y;ENSP00000395467:S140Y	ENSP00000342336:S140Y	S	-	2	0	FAM180A	135069366	1.000000	0.71417	0.601000	0.28877	0.807000	0.45602	5.149000	0.64863	2.677000	0.91161	0.561000	0.74099	TCC		PASS	0.617	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		34	65	34	65	---	---	---	---
OR9A2	135924	broad.mit.edu	37	7	142723506	142723506	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:142723506G>A	ENST00000350513.2	-	1	776	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A238A(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TGAAGTGGGAGGCAAAAGTGG	0.488																																						uc003wcc.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(712-714)GCC>GCT		olfactory receptor, family 9, subfamily A,							73.0	77.0	75.0					7																	142723506		2203	4300	6503	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723506G>A		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.714C>T	7.37:g.142723506G>A							p.A238A	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	714	-	Melanoma(164;0.059)		238			Helical; Name=6; (Potential).		B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.714C>T	CCDS34767.1																																																																																				PASS	0.488	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			24	89	24	89	---	---	---	---
ZYX	7791	broad.mit.edu	37	7	143085896	143085896	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:143085896A>G	ENST00000322764.5	+	8	1696	c.1351A>G	c.(1351-1353)Atc>Gtc	p.I451V	ZYX_ENST00000449423.2_Missense_Mutation_p.I364V|ZYX_ENST00000392910.2_Missense_Mutation_p.I294V|EPHA1_ENST00000458129.1_5'Flank	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	451	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I451V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGGGGAGCCCATCACTGACCG	0.662																																						uc003wcw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1351-1353)ATC>GTC		zyxin							70.0	68.0	69.0					7																	143085896		2203	4300	6503	SO:0001583	missense	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143085896A>G	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.1351A>G	7.37:g.143085896A>G	ENSP00000324422:p.Ile451Val					ZYX_uc011ktd.1_Missense_Mutation_p.I294V|ZYX_uc003wcx.2_Missense_Mutation_p.I451V|ZYX_uc011kte.1_Missense_Mutation_p.I420V|ZYX_uc011ktf.1_Missense_Mutation_p.I294V	p.I451V	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			8	1506	+	Melanoma(164;0.205)		451			LIM zinc-binding 2.		A4D2G6|Q6I9S4	Missense_Mutation	SNP	ENST00000322764.5	37	c.1351A>G	CCDS5883.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310443	0.81358	.	.	ENSG00000159840	ENST00000322764;ENST00000354434;ENST00000449423;ENST00000392910;ENST00000446634	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	4.72	4.72	0.59763	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000001	D	0.93374	0.7887	L	0.50847	1.595	0.58432	D	0.999991	D;D	0.71674	0.998;0.995	D;D	0.80764	0.994;0.992	D	0.94126	0.7384	10	0.87932	D	0	.	14.4642	0.67472	1.0:0.0:0.0:0.0	.	364;451	B4DQR8;Q15942	.;ZYX_HUMAN	V	451;419;364;294;141	ENSP00000324422:I451V;ENSP00000346417:I419V;ENSP00000394158:I364V;ENSP00000376642:I294V;ENSP00000403714:I141V	ENSP00000324422:I451V	I	+	1	0	ZYX	142796018	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.206000	0.77891	1.871000	0.54225	0.397000	0.26171	ATC		PASS	0.662	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		14	67	14	67	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141402	143141402	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:143141402A>G	ENST00000332690.1	+	1	857	c.857A>G	c.(856-858)tAt>tGt	p.Y286C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	286					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y286C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCAGTGATTTATCTGTGTGCA	0.493																																						uc011ktg.1																			1	Substitution - Missense(1)		lung(1)	skin(6)	6						c.(856-858)TAT>TGT		taste receptor, type 2, member 60							151.0	150.0	150.0					7																	143141402		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141402A>G	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.857A>G	7.37:g.143141402A>G	ENSP00000327724:p.Tyr286Cys					uc003wda.2_Intron	p.Y286C	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	857	+	Melanoma(164;0.172)		286			Cytoplasmic (Potential).		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.857A>G	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657209	0.47467	.	.	ENSG00000185899	ENST00000332690	T	0.39229	1.09	5.56	3.0	0.34707	.	0.635593	0.14662	U	0.305866	T	0.58595	0.2133	M	0.76170	2.325	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.45731	-0.9241	10	0.72032	D	0.01	.	5.7249	0.18008	0.6528:0.1773:0.0:0.1698	.	286	P59551	T2R60_HUMAN	C	286	ENSP00000327724:Y286C	ENSP00000327724:Y286C	Y	+	2	0	TAS2R60	142851524	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	0.218000	0.17622	0.905000	0.36596	0.482000	0.46254	TAT		PASS	0.493	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			117	180	117	180	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149425626	149425626	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:149425626G>A	ENST00000485033.2	+	11	1487	c.1487G>A	c.(1486-1488)gGa>gAa	p.G496E	KRBA1_ENST00000319551.8_Missense_Mutation_p.G496E|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Missense_Mutation_p.G496E			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	559								p.G496E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCCACCAGGAAGCTCCCCA	0.582																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1486-1488)GGA>GAA		KRAB A domain containing 1							128.0	140.0	136.0					7																	149425626		1980	4163	6143	SO:0001583	missense	84626							g.chr7:149425626G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1487G>A	7.37:g.149425626G>A	ENSP00000420112:p.Gly496Glu					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.G164E	p.G496E	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		12	1886	+	Melanoma(164;0.165)|Ovarian(565;0.177)		496					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.1487G>A		.	.	.	.	.	.	.	.	.	.	G	17.58	3.425035	0.62733	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.65364	0.06;-0.15;-0.15	4.72	3.82	0.43975	.	0.000000	0.39407	N	0.001365	T	0.63733	0.2536	L	0.34521	1.04	0.34385	D	0.693512	D;D	0.60160	0.987;0.987	D;D	0.66196	0.942;0.942	T	0.70149	-0.4951	10	0.42905	T	0.14	-14.9775	7.8452	0.29421	0.1109:0.0:0.8891:0.0	.	496;496	E7ENE9;A5PL33	.;KRBA1_HUMAN	E	496	ENSP00000255992:G496E;ENSP00000317165:G496E;ENSP00000420112:G496E	ENSP00000255992:G496E	G	+	2	0	KRBA1	149056559	0.871000	0.30034	0.985000	0.45067	0.933000	0.57130	1.745000	0.38278	2.158000	0.67659	0.655000	0.94253	GGA		PASS	0.582	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		71	176	71	176	---	---	---	---
ZNF775	285971	broad.mit.edu	37	7	150094078	150094078	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:150094078G>A	ENST00000329630.5	+	3	616	c.509G>A	c.(508-510)cGg>cAg	p.R170Q		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	170					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.R170Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGTGCGCGCGGCGCTTCAGC	0.697																																						uc003whf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)CGG>CAG		zinc finger protein 775							10.0	13.0	12.0					7																	150094078		2136	4248	6384	SO:0001583	missense	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094078G>A	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.509G>A	7.37:g.150094078G>A	ENSP00000330838:p.Arg170Gln						p.R170Q	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	634	+	Ovarian(565;0.183)|Melanoma(164;0.226)		170			C2H2-type 3.		Q8IY24	Missense_Mutation	SNP	ENST00000329630.5	37	c.509G>A	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000103	0.74818	.	.	ENSG00000196456	ENST00000329630	T	0.18960	2.18	4.73	4.73	0.59995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39627	0.1085	L	0.57536	1.79	0.25418	N	0.988295	D	0.89917	1.0	D	0.87578	0.998	T	0.13764	-1.0497	8	.	.	.	.	8.7944	0.34870	0.1007:0.0:0.8993:0.0	.	170	Q96BV0	ZN775_HUMAN	Q	170	ENSP00000330838:R170Q	.	R	+	2	0	ZNF775	149725011	0.000000	0.05858	0.941000	0.38009	0.858000	0.48976	1.053000	0.30442	2.467000	0.83353	0.555000	0.69702	CGG		PASS	0.697	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		10	22	10	22	---	---	---	---
ZNF775	285971	broad.mit.edu	37	7	150094922	150094922	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:150094922C>T	ENST00000329630.5	+	3	1460	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	451					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.C451C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAACGAGTGCGGCAAGAGCT	0.731																																						uc003whf.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1351-1353)TGC>TGT		zinc finger protein 775							12.0	15.0	14.0					7																	150094922		2179	4280	6459	SO:0001819	synonymous_variant	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094922C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1353C>T	7.37:g.150094922C>T						LOC728743_uc003whg.2_5'Flank	p.C451C	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1478	+	Ovarian(565;0.183)|Melanoma(164;0.226)		451			C2H2-type 9.		Q8IY24	Silent	SNP	ENST00000329630.5	37	c.1353C>T	CCDS43678.1																																																																																				PASS	0.731	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		5	14	5	14	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	152055756	152055756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:152055756G>A	ENST00000262189.6	-	2	384	c.166C>T	c.(166-168)Cga>Tga	p.R56*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R56*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	56					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R56*(2)									CCCCTACTTCGAGGTCTACAG	0.358																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(166-168)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							149.0	144.0	146.0					7																	152055756		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:152055756G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.166C>T	7.37:g.152055756G>A	ENSP00000262189:p.Arg56*						p.R56*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	2	385	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	56					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.166C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209005	0.79240	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	.	.	.	5.21	5.21	0.72293	.	0.000000	0.36815	N	0.002390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5194	0.87783	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000262189:R56X	R	-	1	2	MLL3	151686689	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.846000	0.62860	2.443000	0.82685	0.650000	0.86243	CGA		PASS	0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			80	218	80	218	---	---	---	---
PCM1	5108	broad.mit.edu	37	8	17819547	17819547	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:17819547C>T	ENST00000519253.1	+	16	2578	c.2327C>T	c.(2326-2328)tCa>tTa	p.S776L	PCM1_ENST00000325083.8_Missense_Mutation_p.S776L|PCM1_ENST00000524226.1_Missense_Mutation_p.S777L			Q15154	PCM1_HUMAN	pericentriolar material 1	776					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)	p.S776L(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TTTTAGCTGTCAGCTGCTAGT	0.358			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	uc003wyi.3				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	RET|JAK2		papillary thyroid|CML|MPD	PCM1/JAK2(30)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2)	36						c.(2326-2328)TCA>TTA		pericentriolar material 1							70.0	60.0	63.0					8																	17819547		1825	4084	5909	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17819547C>T		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2327C>T	8.37:g.17819547C>T	ENSP00000431099:p.Ser776Leu					PCM1_uc011kyh.1_Missense_Mutation_p.S776L|PCM1_uc003wyj.3_Missense_Mutation_p.S777L	p.S776L	NM_006197	NP_006188	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	16	2749	+			776					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.2327C>T		.	.	.	.	.	.	.	.	.	.	C	27.2	4.811487	0.90707	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.06849	3.49;3.49;3.25	5.51	5.51	0.81932	.	0.168423	0.53938	D	0.000055	T	0.27798	0.0684	L	0.59436	1.845	0.80722	D	1	D;B;D	0.63046	0.992;0.421;0.992	D;B;D	0.71656	0.974;0.322;0.974	T	0.00144	-1.1994	10	0.72032	D	0.01	-8.0076	19.7885	0.96447	0.0:1.0:0.0:0.0	.	776;777;776	E7ETA6;E7EV56;Q15154	.;.;PCM1_HUMAN	L	776;776;777	ENSP00000327077:S776L;ENSP00000431099:S776L;ENSP00000430521:S777L	ENSP00000327077:S776L	S	+	2	0	PCM1	17863827	1.000000	0.71417	0.958000	0.39756	0.853000	0.48598	5.359000	0.66074	2.758000	0.94735	0.655000	0.94253	TCA		PASS	0.358	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		9	17	9	17	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39495998	39495998	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:39495998C>A	ENST00000265707.5	+	10	887	c.842C>A	c.(841-843)cCt>cAt	p.P281H	ADAM18_ENST00000379866.1_Missense_Mutation_p.P257H|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	281	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P281H(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGGAAACATCCTAAATATGTG	0.279																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(841-843)CCT>CAT		a disintegrin and metalloprotease domain 18							100.0	96.0	97.0					8																	39495998		2203	4295	6498	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495998C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.842C>A	8.37:g.39495998C>A	ENSP00000265707:p.Pro281His					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.P257H	p.P281H	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		10	842	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	281			Peptidase M12B.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.842C>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008514	0.54361	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09630	2.96;2.96	5.51	3.67	0.42095	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.463445	0.18519	N	0.138838	T	0.30665	0.0772	M	0.81497	2.545	0.32607	N	0.52511	D;D	0.76494	0.999;0.998	D;D	0.73380	0.978;0.98	T	0.40232	-0.9574	10	0.54805	T	0.06	.	8.8989	0.35481	0.0:0.8263:0.0:0.1737	.	257;281	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	H	281;257;213	ENSP00000265707:P281H;ENSP00000369195:P257H	ENSP00000265707:P281H	P	+	2	0	ADAM18	39615155	0.113000	0.22115	0.511000	0.27724	0.974000	0.67602	0.968000	0.29357	1.546000	0.49388	0.650000	0.86243	CCT		PASS	0.279	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		18	127	18	127	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48815131	48815131	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:48815131G>C	ENST00000314191.2	-	27	3323	c.3267C>G	c.(3265-3267)ttC>ttG	p.F1089L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F1089L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1089					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.F1089L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTACAAACCTGAATTCCCTGT	0.423								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2																			2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(3265-3267)TTC>TTG	NHEJ	protein kinase, DNA-activated, catalytic							82.0	73.0	76.0					8																	48815131		1852	4101	5953	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48815131G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3267C>G	8.37:g.48815131G>C	ENSP00000313420:p.Phe1089Leu					PRKDC_uc003xqj.2_Missense_Mutation_p.F1089L|PRKDC_uc011ldh.1_Missense_Mutation_p.F1089L	p.F1089L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			27	3324	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1089					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3267C>G		.	.	.	.	.	.	.	.	.	.	G	13.42	2.232938	0.39498	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.61510	0.1;0.1	4.85	3.95	0.45737	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60573	0.2279	.	.	.	0.54753	D	0.999986	P;P;D	0.58970	0.905;0.846;0.984	P;P;P	0.55965	0.753;0.571;0.788	T	0.56117	-0.8032	9	0.27785	T	0.31	.	8.7194	0.34432	0.2638:0.0:0.7362:0.0	.	1089;1089;1089	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	L	1089	ENSP00000313420:F1089L;ENSP00000345182:F1089L	ENSP00000313420:F1089L	F	-	3	2	PRKDC	48977684	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	2.435000	0.44811	2.388000	0.81334	0.557000	0.71058	TTC		PASS	0.423	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		13	53	13	53	---	---	---	---
TTPA	7274	broad.mit.edu	37	8	63973878	63973878	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:63973878T>C	ENST00000260116.4	-	5	801	c.770A>G	c.(769-771)cAg>cGg	p.Q257R	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	257					embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.Q257R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TGTCCATTCCTGACAAATGTC	0.388																																						uc003xux.1																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)CAG>CGG		tocopherol (alpha) transfer protein	Vitamin E(DB00163)						84.0	84.0	84.0					8																	63973878		2203	4300	6503	SO:0001583	missense	7274				lipid metabolic process		transporter activity|vitamin E binding	g.chr8:63973878T>C	BC058000	CCDS6178.1	8q12.3	2007-07-18	2007-07-16			ENSG00000137561			12404	protein-coding gene	gene with protein product		600415	"""ataxia (Friedreich-like) with vitamin E deficiency"""	AVED		7719340, 7887897	Standard	NM_000370		Approved		uc003xux.2	P49638		ENST00000260116.4:c.770A>G	8.37:g.63973878T>C	ENSP00000260116:p.Gln257Arg						p.Q257R	NM_000370	NP_000361	P49638	TTPA_HUMAN			5	802	-	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)	257					Q71V64	Missense_Mutation	SNP	ENST00000260116.4	37	c.770A>G	CCDS6178.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140372	0.56936	.	.	ENSG00000137561	ENST00000260116	D	0.84223	-1.82	5.86	5.86	0.93980	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.107097	0.64402	D	0.000004	T	0.81978	0.4937	L	0.53249	1.67	0.46113	D	0.998877	B	0.13594	0.008	B	0.10450	0.005	T	0.76680	-0.2870	10	0.16420	T	0.52	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	257	P49638	TTPA_HUMAN	R	257	ENSP00000260116:Q257R	ENSP00000260116:Q257R	Q	-	2	0	TTPA	64136432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	2.367000	0.80283	0.528000	0.53228	CAG		PASS	0.388	TTPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378460.1	NM_000370		18	88	18	88	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69104751	69104751	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:69104751G>A	ENST00000288368.4	+	37	4872	c.4595G>A	c.(4594-4596)gGt>gAt	p.G1532D		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	1532					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.G1532D(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						TGCAGCAGCGGTGTGCATCGG	0.493																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(4594-4596)GGT>GAT		DEP domain containing 2 isoform a							54.0	46.0	49.0					8																	69104751		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.chr8:69104751G>A	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.4595G>A	8.37:g.69104751G>A	ENSP00000288368:p.Gly1532Asp						p.G1532D	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			37	4622	+			1532					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.4595G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067072	0.76301	.	.	ENSG00000046889	ENST00000288368	T	0.68765	-0.35	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84451	0.0588	10	0.87932	D	0	.	18.924	0.92537	0.0:0.0:1.0:0.0	.	1532	Q70Z35	PREX2_HUMAN	D	1532	ENSP00000288368:G1532D	ENSP00000288368:G1532D	G	+	2	0	PREX2	69267305	1.000000	0.71417	0.704000	0.30370	0.344000	0.29017	9.277000	0.95755	2.539000	0.85634	0.460000	0.39030	GGT		PASS	0.493	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		8	52	8	52	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69445374	69445374	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:69445374G>A	ENST00000539993.1	+	7	1386	c.837G>A	c.(835-837)atG>atA	p.M279I	C8orf34_ENST00000518698.1_Missense_Mutation_p.M365I|C8orf34_ENST00000348340.2_Missense_Mutation_p.M279I|C8orf34_ENST00000337103.4_Missense_Mutation_p.M254I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	279								p.M254I(1)|p.M279I(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGATGCAATGGAATTGCTGG	0.333																																						uc010lyz.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(835-837)ATG>ATA		hypothetical protein LOC116328							78.0	77.0	78.0					8																	69445374		2203	4299	6502	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69445374G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.837G>A	8.37:g.69445374G>A	ENSP00000438159:p.Met279Ile					C8orf34_uc010lyy.1_Missense_Mutation_p.M279I|C8orf34_uc003xyb.2_Missense_Mutation_p.M254I	p.M279I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		7	886	+			279					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.837G>A		.	.	.	.	.	.	.	.	.	.	G	17.97	3.519153	0.64634	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.49139	0.79;0.83;0.83	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	L	0.60455	1.87	0.51767	D	0.999931	D;D	0.53745	0.962;0.962	D;D	0.66716	0.946;0.946	T	0.62393	-0.6864	9	.	.	.	-14.3505	19.4567	0.94895	0.0:0.0:1.0:0.0	.	279;279	Q49A92;Q49A92-3	CH034_HUMAN;.	I	365;279;279;254	ENSP00000427820:M365I;ENSP00000438159:M279I;ENSP00000337174:M254I	.	M	+	3	0	C8orf34	69607928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.802000	0.91910	2.609000	0.88269	0.591000	0.81541	ATG		PASS	0.333	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		31	123	31	123	---	---	---	---
LACTB2	51110	broad.mit.edu	37	8	71574130	71574130	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:71574130C>G	ENST00000276590.4	-	2	161	c.125G>C	c.(124-126)aGa>aCa	p.R42T	RP11-382J12.1_ENST00000499227.2_3'UTR|LACTB2_ENST00000522447.1_Missense_Mutation_p.R42T	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	42						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R42T(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AATGAGGATTCTCCTGAAAAT	0.353																																						uc011lfd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(124-126)AGA>ACA		lactamase, beta 2							114.0	100.0	105.0					8																	71574130		2203	4300	6503	SO:0001583	missense	51110						hydrolase activity|metal ion binding	g.chr8:71574130C>G	AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.125G>C	8.37:g.71574130C>G	ENSP00000276590:p.Arg42Thr					LACTB2_uc003xyp.2_Missense_Mutation_p.R42T	p.R42T	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)		2	217	-	Breast(64;0.0716)		42					A8K2D6|Q9Y392	Missense_Mutation	SNP	ENST00000276590.4	37	c.125G>C	CCDS6208.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957025	0.92726	.	.	ENSG00000147592	ENST00000522447;ENST00000276590	T;T	0.79033	-1.23;-1.23	5.57	5.57	0.84162	Beta-lactamase-like (2);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.83289	-0.0034	10	0.24483	T	0.36	-30.1513	19.5577	0.95358	0.0:1.0:0.0:0.0	.	42	Q53H82	LACB2_HUMAN	T	42	ENSP00000428801:R42T;ENSP00000276590:R42T	ENSP00000276590:R42T	R	-	2	0	LACTB2	71736684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.418000	0.80167	2.618000	0.88619	0.561000	0.74099	AGA		PASS	0.353	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027		28	107	28	107	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617479	77617479	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:77617479G>A	ENST00000521891.2	+	2	1604	c.1156G>A	c.(1156-1158)Gcg>Acg	p.A386T	ZFHX4_ENST00000050961.6_Missense_Mutation_p.A386T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A386T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A386T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	386					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A386T(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAAGGAAGCGCGAGCACCTC	0.537										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1156-1158)GCG>ACG		zinc finger homeodomain 4							50.0	46.0	47.0					8																	77617479		1858	4098	5956	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617479G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1156G>A	8.37:g.77617479G>A	ENSP00000430497:p.Ala386Thr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.A386T|ZFHX4_uc003yau.1_Missense_Mutation_p.A386T|ZFHX4_uc003yaw.1_Missense_Mutation_p.A386T	p.A386T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	1543	+			386					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1156G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472354	0.26423	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52295	0.67;0.73;0.7;0.69	5.53	-6.38	0.01957	.	0.508491	0.16104	N	0.229410	T	0.18045	0.0433	N	0.14661	0.345	0.47584	D	0.999467	B;B;B;B	0.27117	0.008;0.014;0.014;0.168	B;B;B;B	0.15870	0.001;0.006;0.003;0.014	T	0.07888	-1.0749	10	0.24483	T	0.36	.	3.2169	0.06702	0.2725:0.3448:0.2918:0.091	.	386;386;386;386	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	T	386	ENSP00000430497:A386T;ENSP00000399605:A386T;ENSP00000050961:A386T;ENSP00000430848:A386T	ENSP00000050961:A386T	A	+	1	0	ZFHX4	77780034	0.088000	0.21588	0.002000	0.10522	0.834000	0.47266	0.309000	0.19332	-1.846000	0.01175	-0.889000	0.02933	GCG		PASS	0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	96	18	96	---	---	---	---
OSR2	116039	broad.mit.edu	37	8	99961747	99961747	+	Silent	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:99961747C>A	ENST00000297565.4	+	2	1063	c.567C>A	c.(565-567)atC>atA	p.I189I	OSR2_ENST00000435298.2_Silent_p.I189I|OSR2_ENST00000523368.1_Silent_p.I189I|OSR2_ENST00000457907.2_Silent_p.I310I|OSR2_ENST00000522510.1_Silent_p.I189I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	189					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|chondrocyte differentiation (GO:0002062)|embryo development (GO:0009790)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|head development (GO:0060322)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|osteoblast proliferation (GO:0033687)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.I189I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ATTTGCTCATCCATGAGAGGA	0.532																																						uc003yir.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(565-567)ATC>ATA		odd-skipped related 2 isoform a							118.0	127.0	124.0					8																	99961747		2078	4236	6314	SO:0001819	synonymous_variant	116039				bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	g.chr8:99961747C>A	AY038072	CCDS47901.1, CCDS47902.1, CCDS69520.1	8q22.2	2013-10-17	2013-10-17			ENSG00000164920		"""Zinc fingers, C2H2-type"""	15830	protein-coding gene	gene with protein product		611297	"""odd-skipped related 2 (Drosophila)"""				Standard	XM_005250779		Approved	FLJ90037	uc003yir.3	Q8N2R0		ENST00000297565.4:c.567C>A	8.37:g.99961747C>A						OSR2_uc010mbn.2_Silent_p.I189I|OSR2_uc003yiq.2_Silent_p.I189I|OSR2_uc011lgx.1_Silent_p.I310I	p.I189I	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0136)		2	1102	+	Breast(36;4.14e-07)		189			C2H2-type 1.		A8K626|B4E3B7|Q96AM6|Q96LB6|Q96LB7	Silent	SNP	ENST00000297565.4	37	c.567C>A	CCDS47901.1																																																																																				PASS	0.532	OSR2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379505.1	NM_053001		165	174	165	174	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102570785	102570785	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:102570785C>T	ENST00000251808.3	+	4	761	c.423C>T	c.(421-423)atC>atT	p.I141I	GRHL2_ENST00000395927.1_Silent_p.I125I	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	141					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I141I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			AGTACAGCATCAGCTTCCCCG	0.512																																						uc010mbu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(421-423)ATC>ATT		transcription factor CP2-like 3							130.0	127.0	128.0					8																	102570785		2203	4300	6503	SO:0001819	synonymous_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102570785C>T	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.423C>T	8.37:g.102570785C>T						GRHL2_uc011lhi.1_Silent_p.I141I	p.I141I	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	753	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		141					A1L303|Q6NT03|Q9H8B8	Silent	SNP	ENST00000251808.3	37	c.423C>T	CCDS34931.1																																																																																				PASS	0.512	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		38	163	38	163	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107773726	107773726	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:107773726C>G	ENST00000311955.3	-	2	739	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.E229Q(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTGAGTTTCTCTGTAAATCTG	0.433																																						uc003ymm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(685-687)GAG>CAG		actin-binding Rho activating protein							55.0	53.0	53.0					8																	107773726		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773726C>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.685G>C	8.37:g.107773726C>G	ENSP00000311436:p.Glu229Gln						p.E229Q	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	739	-			229						Missense_Mutation	SNP	ENST00000311955.3	37	c.685G>C	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646986	0.87958	.	.	ENSG00000174429	ENST00000311955	.	.	.	5.76	5.76	0.90799	.	0.150090	0.64402	D	0.000017	T	0.77974	0.4211	M	0.66939	2.045	0.51767	D	0.999939	D	0.76494	0.999	D	0.66351	0.943	T	0.78445	-0.2201	9	0.72032	D	0.01	-13.1831	19.312	0.94192	0.0:1.0:0.0:0.0	.	229	Q8N0Z2	ABRA_HUMAN	Q	229	.	ENSP00000311436:E229Q	E	-	1	0	ABRA	107842902	1.000000	0.71417	0.986000	0.45419	0.930000	0.56654	6.526000	0.73799	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.433	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		5	113	5	113	---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108334175	108334175	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:108334175C>T	ENST00000520734.1	-	3	442	c.157G>A	c.(157-159)Gag>Aag	p.E53K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.E53K			Q15389	ANGP1_HUMAN	angiopoietin 1	253					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.E253K(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCCATCAGCTCCAGTTGCTGC	0.403																																						uc003ymn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(757-759)GAG>AAG		angiopoietin 1 precursor							188.0	173.0	178.0					8																	108334175		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108334175C>T	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.157G>A	8.37:g.108334175C>T	ENSP00000430750:p.Glu53Lys					ANGPT1_uc011lhv.1_Missense_Mutation_p.E53K|ANGPT1_uc003ymo.2_Missense_Mutation_p.E253K|ANGPT1_uc003ymp.3_Missense_Mutation_p.E53K	p.E253K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		4	1225	-	Breast(1;5.06e-08)		253			Potential.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.757G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.983896	0.74474	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000395820;ENST00000520734;ENST00000520052	T;T;T;T	0.53640	0.94;0.94;0.62;0.61	5.36	5.36	0.76844	.	0.048020	0.85682	D	0.000000	T	0.42291	0.1196	L	0.46157	1.445	0.80722	D	1	B;B;B	0.34161	0.434;0.439;0.439	B;B;B	0.31442	0.13;0.101;0.101	T	0.26326	-1.0106	10	0.16896	T	0.51	.	19.0852	0.93201	0.0:1.0:0.0:0.0	.	53;253;253	E7ERK4;Q5HYA0;Q15389	.;.;ANGP1_HUMAN	K	253;253;65;53;53	ENSP00000428340:E253K;ENSP00000297450:E253K;ENSP00000430750:E53K;ENSP00000429349:E53K	ENSP00000297450:E253K	E	-	1	0	ANGPT1	108403351	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.397000	0.66302	2.505000	0.84491	0.655000	0.94253	GAG		PASS	0.403	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		43	141	43	141	---	---	---	---
COLEC10	10584	broad.mit.edu	37	8	120118073	120118073	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:120118073C>T	ENST00000332843.2	+	6	518	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	159	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.F159F(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AAGAGAAATTCTACTACATCG	0.438																																						uc003yoo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(475-477)TTC>TTT		collectin sub-family member 10 precursor							63.0	50.0	54.0					8																	120118073		2203	4300	6503	SO:0001819	synonymous_variant	10584					collagen|cytoplasm	mannose binding	g.chr8:120118073C>T	AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.477C>T	8.37:g.120118073C>T							p.F159F	NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	STAD - Stomach adenocarcinoma(47;0.00113)		6	574	+	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		159			C-type lectin.		Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	c.477C>T	CCDS6327.1																																																																																				PASS	0.438	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			4	68	4	68	---	---	---	---
MAL2	114569	broad.mit.edu	37	8	120252475	120252475	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:120252475C>G	ENST00000276681.6	+	4	476	c.374C>G	c.(373-375)tCc>tGc	p.S125C	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	125	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			GCAGCCACATCCCTGCATGAT	0.398																																						uc003yop.2																			0					0						c.(373-375)TCC>TGC		MAL2 proteolipid protein							86.0	82.0	83.0					8																	120252475		1893	4119	6012	SO:0001583	missense	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120252475C>G	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.374C>G	8.37:g.120252475C>G	ENSP00000475434:p.Ser125Cys						p.S125C	NM_052886	NP_443118	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		4	476	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		125			Lumenal (Potential).|MARVEL.		B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37	c.374C>G																																																																																					PASS	0.398	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		11	126	11	126	---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121514775	121514775	+	Silent	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:121514775C>A	ENST00000305949.1	+	15	1698	c.1653C>A	c.(1651-1653)acC>acA	p.T551T		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	551	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.T551T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAATGGAAACCAATCCTCTGG	0.313																																						uc003ypc.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1651-1653)ACC>ACA		Mdm2, transformed 3T3 cell double minute 2, p53							52.0	54.0	53.0					8																	121514775		2203	4295	6498	SO:0001819	synonymous_variant	27085				cell cycle arrest			g.chr8:121514775C>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.1653C>A	8.37:g.121514775C>A							p.T551T	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		15	1698	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		551			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Silent	SNP	ENST00000305949.1	37	c.1653C>A	CCDS6333.1																																																																																				PASS	0.313	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		16	53	16	53	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124146371	124146371	+	Silent	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:124146371A>T	ENST00000287380.1	+	17	2514	c.2424A>T	c.(2422-2424)cgA>cgT	p.R808R	TBC1D31_ENST00000522420.1_Silent_p.R703R|TBC1D31_ENST00000309336.3_Silent_p.R808R|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000521676.1_Silent_p.R685R|TBC1D31_ENST00000518805.1_Silent_p.R362R	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	808						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.R808R(1)									TGAGAGATCGAGAAATTGCTG	0.323																																						uc003ypp.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2422-2424)CGA>CGT		WD repeat domain 67 isoform 1							92.0	97.0	95.0					8																	124146371		2203	4300	6503	SO:0001819	synonymous_variant	93594					centrosome	Rab GTPase activator activity	g.chr8:124146371A>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2424A>T	8.37:g.124146371A>T						WDR67_uc011lig.1_Intron|WDR67_uc011lih.1_Silent_p.R698R|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Silent_p.R442R|WDR67_uc003ypt.1_Silent_p.R265R|WDR67_uc003ypu.1_Silent_p.R265R	p.R808R	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		17	2514	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		808			Potential.		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.2424A>T	CCDS6338.1																																																																																				PASS	0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		30	148	30	148	---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125499022	125499022	+	IGR	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:125499022C>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Missense_Mutation_p.L378F|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.L378F(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTAATGTCTCTCAGTGCCTC	0.398																																						uc003yrc.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1132-1134)CTC>TTC		ring finger protein 139							376.0	364.0	368.0					8																	125499022		2203	4300	6503	SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499022C>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499022C>T							p.L378F	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1475	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		378					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.1132C>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126325	0.56721	.	.	ENSG00000170881	ENST00000303545	T	0.52057	0.68	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72197	-0.4363	10	0.87932	D	0	-9.8775	13.523	0.61578	0.0:0.9247:0.0:0.0753	.	378	Q8WU17	RN139_HUMAN	F	378	ENSP00000304051:L378F	ENSP00000304051:L378F	L	+	1	0	RNF139	125568203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.372000	0.59530	2.590000	0.87494	0.655000	0.94253	CTC		PASS	0.398	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		8	571	8	571	---	---	---	---
SLA	6503	broad.mit.edu	37	8	134063088	134063088	+	Missense_Mutation	SNP	C	C	G	rs572664813		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:134063088C>G	ENST00000338087.5	-	4	953	c.134G>C	c.(133-135)cGa>cCa	p.R45P	SLA_ENST00000395352.3_Missense_Mutation_p.R62P|SLA_ENST00000518565.1_5'UTR|TG_ENST00000519543.1_Intron|SLA_ENST00000524345.1_5'UTR|SLA_ENST00000517648.1_Missense_Mutation_p.R62P|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.R85P|TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	45	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)	p.R85P(1)|p.R45P(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTTCTCCCCTCGGCGGAATAT	0.502																																						uc003ytz.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|liver(1)	2						c.(133-135)CGA>CCA		Src-like-adaptor isoform a							62.0	64.0	63.0					8																	134063088		2203	4300	6503	SO:0001583	missense	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134063088C>G		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.134G>C	8.37:g.134063088C>G	ENSP00000337548:p.Arg45Pro					TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Missense_Mutation_p.R62P|SLA_uc011ljf.1_5'UTR|SLA_uc011ljg.1_Missense_Mutation_p.R62P|SLA_uc010mdy.1_Missense_Mutation_p.R45P|SLA_uc010mdz.1_Missense_Mutation_p.R45P|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Missense_Mutation_p.R85P	p.R45P	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		4	966	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	45			SH3.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	ENST00000338087.5	37	c.134G>C	CCDS6370.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705340	0.48412	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000517648;ENST00000522119;ENST00000519341;ENST00000521302	T;T;T;T;T;T;T	0.49720	0.79;0.79;0.79;0.79;0.79;0.79;0.77	5.42	4.55	0.56014	Src homology-3 domain (4);	0.283692	0.39020	N	0.001498	T	0.39462	0.1079	L	0.35288	1.05	0.09310	N	1	P;P;P;B;B;P	0.45672	0.864;0.78;0.78;0.391;0.132;0.78	P;B;B;B;B;B	0.45753	0.492;0.371;0.371;0.233;0.22;0.371	T	0.31336	-0.9947	10	0.62326	D	0.03	-4.4157	7.2088	0.25921	0.1686:0.7451:0.0:0.0864	.	62;45;45;45;45;45	B7Z4J2;Q6FI01;Q5TZW1;E5RHT2;E5RJ69;Q13239	.;.;.;.;.;SLAP1_HUMAN	P	45;85;62;62;45;45;45	ENSP00000337548:R45P;ENSP00000394049:R85P;ENSP00000378759:R62P;ENSP00000428559:R62P;ENSP00000430596:R45P;ENSP00000429681:R45P;ENSP00000430184:R45P	ENSP00000337548:R45P	R	-	2	0	SLA	134132270	0.000000	0.05858	0.174000	0.22961	0.520000	0.34377	1.274000	0.33132	1.440000	0.47531	0.650000	0.86243	CGA		PASS	0.502	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			9	130	9	130	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144942409	144942409	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:144942409G>C	ENST00000525985.1	-	2	5084	c.5013C>G	c.(5011-5013)ctC>ctG	p.L1671L				P58107	EPIPL_HUMAN	epiplakin 1	1671						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.L1671L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGGACGATGAGGTCCTTCT	0.687																																						uc003zaa.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(5011-5013)CTC>CTG		epiplakin 1							56.0	61.0	60.0					8																	144942409		1985	4145	6130	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942409G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5013C>G	8.37:g.144942409G>C							p.L1671L	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	5026	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1671			Plectin 28.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.5013C>G																																																																																					PASS	0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	166	9	166	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144943418	144943418	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:144943418G>A	ENST00000525985.1	-	2	4075	c.4004C>T	c.(4003-4005)tCc>tTc	p.S1335F				P58107	EPIPL_HUMAN	epiplakin 1	1335						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.S1335F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGAGAGAGGGAGGCCCTAGA	0.687																																						uc003zaa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(4003-4005)TCC>TTC		epiplakin 1							29.0	35.0	33.0					8																	144943418		1916	4103	6019	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943418G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4004C>T	8.37:g.144943418G>A	ENSP00000436337:p.Ser1335Phe						p.S1335F	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	4017	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1335			Plectin 23.		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4004C>T		.	.	.	.	.	.	.	.	.	.	G	8.081	0.772335	0.16051	.	.	ENSG00000227184	ENST00000525985	T	0.68181	-0.31	4.4	0.27	0.15635	.	.	.	.	.	T	0.44371	0.1290	L	0.34521	1.04	0.09310	N	1	B	0.18863	0.031	B	0.14023	0.01	T	0.22417	-1.0217	9	0.09590	T	0.72	.	1.7881	0.03046	0.1725:0.3003:0.3739:0.1533	.	1335	E9PPU0	.	F	1335	ENSP00000436337:S1335F	ENSP00000436337:S1335F	S	-	2	0	EPPK1	145015406	0.004000	0.15560	0.012000	0.15200	0.473000	0.32948	0.447000	0.21710	-0.149000	0.11215	0.462000	0.41574	TCC		PASS	0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		20	111	20	111	---	---	---	---
SLC39A4	55630	broad.mit.edu	37	8	145641346	145641346	+	Missense_Mutation	SNP	C	C	T	rs144726882		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr8:145641346C>T	ENST00000301305.3	-	2	427	c.322G>A	c.(322-324)Gag>Aag	p.E108K	SLC39A4_ENST00000276833.5_Missense_Mutation_p.E83K|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	108					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.E108K(1)|p.E83K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGGTGCCCTCGGGGTTGCTG	0.736																																						uc003zcq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(322-324)GAG>AAG		solute carrier family 39 (zinc transporter),		C	LYS/GLU,LYS/GLU	0,4362		0,0,2181	14.0	16.0	16.0		247,322	3.4	0.0	8	dbSNP_134	16	2,8552		0,2,4275	no	missense,missense	SLC39A4	NM_017767.2,NM_130849.2	56,56	0,2,6456	TT,TC,CC		0.0234,0.0,0.0155	benign,benign	83/623,108/648	145641346	2,12914	2181	4277	6458	SO:0001583	missense	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145641346C>T	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.322G>A	8.37:g.145641346C>T	ENSP00000301305:p.Glu108Lys					SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.2_5'Flank|SLC39A4_uc003zco.2_5'Flank|SLC39A4_uc003zcp.2_Missense_Mutation_p.E83K	p.E108K	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		2	422	-	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)		108			Extracellular (Potential).		Q7L5S5|Q9H6T8|Q9NXC4	Missense_Mutation	SNP	ENST00000301305.3	37	c.322G>A	CCDS6424.1	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212589	0.22289	0.0	2.34E-4	ENSG00000147804	ENST00000276833;ENST00000301305	T;T	0.55234	0.53;0.53	4.3	3.42	0.39159	.	0.624833	0.14098	N	0.341606	T	0.31231	0.0790	L	0.27053	0.805	0.09310	N	1	P;P	0.43662	0.814;0.672	B;B	0.30943	0.122;0.091	T	0.07539	-1.0767	10	0.36615	T	0.2	-12.1489	7.9353	0.29927	0.0:0.887:0.0:0.113	.	108;83	Q6P5W5;A6NDY5	S39A4_HUMAN;.	K	83;108	ENSP00000276833:E83K;ENSP00000301305:E108K	ENSP00000276833:E83K	E	-	1	0	SLC39A4	145612154	0.000000	0.05858	0.019000	0.16419	0.064000	0.16182	-0.219000	0.09228	1.048000	0.40298	0.306000	0.20318	GAG		PASS	0.736	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			8	33	8	33	---	---	---	---
KDM4C	23081	broad.mit.edu	37	9	6984310	6984310	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:6984310G>A	ENST00000381309.3	+	10	1825	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	KDM4C_ENST00000442236.2_Silent_p.V239V|KDM4C_ENST00000381306.3_Silent_p.V420V|KDM4C_ENST00000535193.1_Silent_p.V442V|KDM4C_ENST00000543771.1_Silent_p.V420V|KDM4C_ENST00000536108.1_Silent_p.V239V|KDM4C_ENST00000428870.2_Silent_p.V107V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	420					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)	p.V420V(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCAGCAGTGAAGCTGAGGA	0.483																																						uc003zkh.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1258-1260)GTG>GTA		jumonji domain containing 2C isoform 1							101.0	90.0	94.0					9																	6984310		2203	4300	6503	SO:0001819	synonymous_variant	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6984310G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1260G>A	9.37:g.6984310G>A						KDM4C_uc010mhu.2_Silent_p.V442V|KDM4C_uc011lmi.1_Silent_p.V420V|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Silent_p.V420V|KDM4C_uc011lmk.1_Silent_p.V239V|KDM4C_uc011lml.1_Silent_p.V107V	p.V420V	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			10	1840	+			420					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Silent	SNP	ENST00000381309.3	37	c.1260G>A	CCDS6471.1																																																																																				PASS	0.483	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		4	54	4	54	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19372047	19372047	+	Missense_Mutation	SNP	A	A	G	rs370152905		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:19372047A>G	ENST00000380432.2	+	28	4931	c.4898A>G	c.(4897-4899)aAt>aGt	p.N1633S	RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000602925.1_Missense_Mutation_p.N1869S|DENND4C_ENST00000434457.2_Missense_Mutation_p.N1918S			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1633					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.N1633S(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCATTTGACAATGAATATGGA	0.358																																						uc003znq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4897-4899)AAT>AGT		DENN/MADD domain containing 4C		A	SER/ASN	0,4406		0,0,2203	80.0	89.0	86.0		4898	1.8	1.0	9		86	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND4C	NM_017925.4	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	1633/1674	19372047	1,13005	2203	4300	6503	SO:0001583	missense	55667					integral to membrane		g.chr9:19372047A>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4898A>G	9.37:g.19372047A>G	ENSP00000369797:p.Asn1633Ser					DENND4C_uc011lnc.1_Missense_Mutation_p.N963S|DENND4C_uc011lnd.1_Missense_Mutation_p.N921S|DENND4C_uc003znr.2_3'UTR|DENND4C_uc003zns.2_3'UTR	p.N1633S	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			28	4931	+			1633					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.4898A>G		.	.	.	.	.	.	.	.	.	.	A	12.49	1.952259	0.34471	0.0	1.16E-4	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000540671;ENST00000380432;ENST00000361024	T;T	0.21734	1.99;1.99	5.46	1.8	0.24995	.	0.269693	0.41294	N	0.000906	T	0.12561	0.0305	L	0.33485	1.01	0.29141	N	0.879012	B;B	0.11235	0.004;0.001	B;B	0.15484	0.013;0.003	T	0.21449	-1.0245	9	.	.	.	-7.6187	4.9938	0.14228	0.6493:0.0:0.2155:0.1352	.	963;1633	B7Z660;Q5VZ89	.;DEN4C_HUMAN	S	1633;1106;963;1106;630	ENSP00000305795:N1106S;ENSP00000443804:N963S	.	N	+	2	0	DENND4C	19362047	0.986000	0.35501	0.994000	0.49952	0.984000	0.73092	1.529000	0.35996	0.058000	0.16222	0.482000	0.46254	AAT		PASS	0.358	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		16	117	16	117	---	---	---	---
IFNA8	3445	broad.mit.edu	37	9	21409532	21409532	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:21409532G>T	ENST00000380205.1	+	1	387	c.357G>T	c.(355-357)ctG>ctT	p.L119L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	119					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.L119L(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)		TGAATGACCTGGAGTCCTGTG	0.483																																						uc003zpc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(355-357)CTG>CTT		interferon, alpha 8 precursor							116.0	114.0	115.0					9																	21409532		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:21409532G>T		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.357G>T	9.37:g.21409532G>T							p.L119L	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	387	+			119					P01565|P09236|Q5VWV7|Q5VYQ3	Silent	SNP	ENST00000380205.1	37	c.357G>T	CCDS6507.1																																																																																				PASS	0.483	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		15	140	15	140	---	---	---	---
IFNA8	3445	broad.mit.edu	37	9	21409534	21409534	+	Missense_Mutation	SNP	A	A	G	rs376876265		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:21409534A>G	ENST00000380205.1	+	1	389	c.359A>G	c.(358-360)gAg>gGg	p.E120G		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	120					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.E120G(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)		AATGACCTGGAGTCCTGTGTG	0.478																																						uc003zpc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GAG>GGG		interferon, alpha 8 precursor		A	GLY/GLU	0,4406		0,0,2203	118.0	116.0	117.0		359	3.5	0.0	9		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	IFNA8	NM_002170.3	98	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	120/190	21409534	1,13005	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.chr9:21409534A>G		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.359A>G	9.37:g.21409534A>G	ENSP00000369553:p.Glu120Gly						p.E120G	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	389	+			120					P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	37	c.359A>G	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.380908	0.42207	0.0	1.16E-4	ENSG00000120242	ENST00000380205	T	0.08720	3.06	3.48	3.48	0.39840	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.656003	0.15757	N	0.246149	T	0.31327	0.0793	M	0.90870	3.155	0.09310	N	1	D	0.64830	0.994	D	0.71184	0.972	T	0.11108	-1.0601	10	0.87932	D	0	.	6.9389	0.24483	0.7646:0.2354:0.0:0.0	.	120	P32881	IFNA8_HUMAN	G	120	ENSP00000369553:E120G	ENSP00000369553:E120G	E	+	2	0	IFNA8	21399534	0.040000	0.19996	0.001000	0.08648	0.016000	0.09150	1.768000	0.38511	1.593000	0.50029	0.402000	0.26972	GAG		PASS	0.478	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170		15	138	15	138	---	---	---	---
EQTN	54586	broad.mit.edu	37	9	27284754	27284754	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:27284754C>T	ENST00000380032.3	-	8	935	c.852G>A	c.(850-852)gaG>gaA	p.E284E	EQTN_ENST00000537675.1_Silent_p.E255E|LINC00032_ENST00000425633.1_lincRNA	NM_020641.2	NP_065692.2	Q9NQ60	EQTN_HUMAN	equatorin, sperm acrosome associated	284					acrosomal vesicle exocytosis (GO:0060478)|endocytosis (GO:0006897)|fusion of sperm to egg plasma membrane (GO:0007342)	early endosome (GO:0005769)|inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|outer acrosomal membrane (GO:0002081)|plasma membrane (GO:0005886)		p.E284E(1)									TTTCATGCATCTCATTATCTG	0.358																																						uc003zql.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(850-852)GAG>GAA		Acr formation associated factor isoform 1							137.0	123.0	128.0					9																	27284754		2203	4300	6503	SO:0001819	synonymous_variant	54586					acrosomal membrane|integral to membrane		g.chr9:27284754C>T	AJ278482	CCDS35001.1, CCDS55300.1	9p21	2012-09-20	2012-09-20	2012-09-20	ENSG00000120160	ENSG00000120160			1359	protein-coding gene	gene with protein product	"""Acr formation associated factor"", ""Acrosome formation associated factor"", ""sperm acrosome associated 8"""		"""chromosome 9 open reading frame 11"", ""equatorin"""	C9orf11			Standard	NM_020641		Approved	AFAF, SPACA8, equatorin	uc003zql.3	Q9NQ60	OTTHUMG00000021033	ENST00000380032.3:c.852G>A	9.37:g.27284754C>T						NCRNA00032_uc010mjd.1_5'Flank|C9orf11_uc011lnq.1_Silent_p.E255E	p.E284E	NM_020641	NP_065692	Q9NQ60	AFAF_HUMAN		OV - Ovarian serous cystadenocarcinoma(39;7.39e-08)|Lung(218;1.26e-05)|LUSC - Lung squamous cell carcinoma(38;0.000106)	8	936	-			284			Cytoplasmic (Potential).		B2RPB3|B7ZMK1|Q5TCU1|Q96L22	Silent	SNP	ENST00000380032.3	37	c.852G>A	CCDS35001.1																																																																																				PASS	0.358	EQTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055499.1	NM_020641		11	89	11	89	---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32543189	32543189	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:32543189G>A	ENST00000360538.2	-	3	1450	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	TOPORS_ENST00000379858.1_Missense_Mutation_p.S380L	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	445	Interaction with SUMO1.|Required for sumoylation and localization to discrete nuclear foci.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S445L(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TTCTTCATCTGAACTGTCAGA	0.418																																						uc003zrb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1333-1335)TCA>TTA		topoisomerase I binding, arginine/serine-rich							131.0	122.0	125.0					9																	32543189		2203	4300	6503	SO:0001583	missense	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543189G>A	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.1334C>T	9.37:g.32543189G>A	ENSP00000353735:p.Ser445Leu					TOPORS_uc003zrc.2_Missense_Mutation_p.S378L	p.S445L	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	1501	-			445			Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.		O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	c.1334C>T	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	G	7.821	0.717870	0.15372	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.18174	2.23;2.27	5.83	5.83	0.93111	.	0.000000	0.40554	N	0.001061	T	0.18964	0.0455	L	0.32530	0.975	0.41343	D	0.987319	P	0.48503	0.911	B	0.42916	0.402	T	0.00624	-1.1639	10	0.72032	D	0.01	-5.2712	18.9764	0.92738	0.0:0.0:1.0:0.0	.	445	Q9NS56	TOPRS_HUMAN	L	445;380	ENSP00000353735:S445L;ENSP00000369187:S380L	ENSP00000353735:S445L	S	-	2	0	TOPORS	32533189	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	4.393000	0.59665	2.766000	0.95052	0.644000	0.83932	TCA		PASS	0.418	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		6	100	6	100	---	---	---	---
FAM221B	392307	broad.mit.edu	37	9	35819993	35819993	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:35819993G>C	ENST00000423537.2	-	4	1016	c.747C>G	c.(745-747)ctC>ctG	p.L249L	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	249								p.L249L(2)|p.S313C(1)		endometrium(2)|kidney(1)|lung(4)	7						AGCCAATGTAGAGACCTAGGT	0.502																																						uc010mlc.2																			3	Substitution - coding silent(2)|Substitution - Missense(1)		lung(3)		0						c.(745-747)CTC>CTG		hypothetical protein LOC392307							53.0	52.0	52.0					9																	35819993		1875	4099	5974	SO:0001819	synonymous_variant	392307							g.chr9:35819993G>C	BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.747C>G	9.37:g.35819993G>C						C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Silent_p.L249L	p.L249L	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		4	1032	-	all_epithelial(49;0.161)		249					Q5TCW2	Silent	SNP	ENST00000423537.2	37	c.747C>G	CCDS43799.2																																																																																				PASS	0.502	FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446		3	63	3	63	---	---	---	---
ERCC6L2	375748	broad.mit.edu	37	9	98740391	98740391	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:98740391G>C	ENST00000407474.3	+	2	842	c.329G>C	c.(328-330)gGa>gCa	p.G110A				Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	1140					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.G110A(1)									AATGTAATTGGATCGAGCAAA	0.403																																						uc004avu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1258-1260)GGA>GCA		Homo sapiens cDNA, FLJ97452.							106.0	94.0	98.0					9																	98740391		2203	4300	6503	SO:0001583	missense	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98740391G>C	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000407474.3:c.329G>C	9.37:g.98740391G>C	ENSP00000384365:p.Gly110Ala					uc010msa.1_Missense_Mutation_p.G110A|uc011lun.1_Missense_Mutation_p.G110A	p.G420A			Q5T890	RAD26_HUMAN			12	2504	+		Acute lymphoblastic leukemia(62;0.0559)	Error:Variant_position_missing_in_Q5T890_after_alignment					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Missense_Mutation	SNP	ENST00000407474.3	37	c.1259G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.249512|4.249512	0.80024|0.80024	.|.	.|.	ENSG00000182150|ENSG00000182150	ENST00000320486|ENST00000407474	.|.	.|.	.|.	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.45606	.|D	.|0.000360	D|D	0.83170|0.83170	0.5196|0.5196	.|.	.|.	.|.	0.42726|0.42726	D|D	0.99369|0.99369	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.85590|0.85590	0.1245|0.1245	4|8	.|0.87932	.|D	.|0	.|.	18.7205|18.7205	0.91691|0.91691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|110	.|A4D997	.|CI102_HUMAN	H|A	101|110	.|.	.|ENSP00000384365:G110A	D|G	+|+	1|2	0|0	C9orf102|C9orf102	97780212|97780212	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.985000|0.985000	0.73830|0.73830	7.238000|7.238000	0.78173|0.78173	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GAT|GGA		PASS	0.403	ERCC6L2-201	KNOWN	basic	protein_coding	protein_coding		NM_001010895		3	67	3	67	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107289477	107289477	+	Missense_Mutation	SNP	T	T	A	rs556728486		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:107289477T>A	ENST00000277216.3	-	1	13	c.14A>T	c.(13-15)aAc>aTc	p.N5I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5I(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAATGTCTGGTTTATCTTGTC	0.368																																						uc011lvn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(13-15)AAC>ATC		olfactory receptor, family 13, subfamily C,							73.0	72.0	72.0					9																	107289477		2203	4300	6503	SO:0001583	missense	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107289477T>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.14A>T	9.37:g.107289477T>A	ENSP00000277216:p.Asn5Ile						p.N5I	NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN			1	14	-			5			Extracellular (Potential).		Q6IF51|Q96R41	Missense_Mutation	SNP	ENST00000277216.3	37	c.14A>T	CCDS35088.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760287	0.69763	.	.	ENSG00000148136	ENST00000277216;ENST00000545903	T	0.14893	2.47	4.07	2.89	0.33648	.	0.000000	0.48286	U	0.000194	T	0.47710	0.1460	M	0.94063	3.49	0.18873	N	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.43426	-0.9392	10	0.87932	D	0	.	8.7299	0.34491	0.0:0.0:0.2016:0.7984	.	5	Q8NGS5	O13C4_HUMAN	I	5;34	ENSP00000277216:N5I	ENSP00000277216:N5I	N	-	2	0	OR13C4	106329298	0.990000	0.36364	0.018000	0.16275	0.683000	0.39861	3.697000	0.54764	0.686000	0.31488	0.482000	0.46254	AAC		PASS	0.368	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			12	51	12	51	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107574967	107574968	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:107574967_107574968CC>AA	ENST00000374736.3	-	28	4331_4332	c.3937_3938GG>TT	c.(3937-3939)GGc>TTc	p.G1313F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1313					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.G1313V(1)|p.G1313C(1)|p.G1313F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GGACCCTTTGCCATCCATCCCA	0.49																																						uc004bcl.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3937-3939)GGC>GTC|c.(3937-3939)GGC>TGC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)																																			SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107574967C>A|g.chr9:107574968C>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3937_3938delinsAA	9.37:g.107574967_107574968delinsAA	ENSP00000363868:p.Gly1313Phe						p.G1313V|p.G1313C	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	28	4251|4250	-			1313					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.3938G>T|c.3937G>T	CCDS6762.1																																																																																				PASS	0.490	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		41	85	41	85	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	128000963	128000963	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:128000963A>T	ENST00000324460.6	-	6	1343	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	RP11-65N13.8_ENST00000468244.1_RNA	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	380					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.N380K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	GTTCCTTGCCATTGAAGAACT	0.448										Prostate(1;0.17)																												uc004bpn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1138-1140)AAT>AAA		heat shock 70kDa protein 5	Antihemophilic Factor(DB00025)						119.0	102.0	108.0					9																	128000963		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:128000963A>T		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1140T>A	9.37:g.128000963A>T	ENSP00000324173:p.Asn380Lys	Prostate(1;0.17)					p.N380K	NM_005347	NP_005338	P11021	GRP78_HUMAN			6	1396	-			380					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1140T>A	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666810	0.47677	.	.	ENSG00000044574	ENST00000324460	T	0.09630	2.96	4.61	1.05	0.20165	.	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	M	0.90082	3.085	0.80722	D	1	B	0.14805	0.011	B	0.18561	0.022	T	0.03112	-1.1071	10	0.87932	D	0	-13.6562	7.2202	0.25981	0.632:0.0:0.368:0.0	.	380	P11021	GRP78_HUMAN	K	380	ENSP00000324173:N380K	ENSP00000324173:N380K	N	-	3	2	HSPA5	127040784	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.518000	0.35877	0.178000	0.19917	0.460000	0.39030	AAT		PASS	0.448	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			5	79	5	79	---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128434763	128434763	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:128434763G>C	ENST00000373498.1	-	1	159	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.L31V|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.L31V|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.L31V|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.L31V|MAPKAP1_ENST00000394063.1_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	31	Interaction with MAP3K2.|Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.L31V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGATCAATGAGAACCATCTCA	0.458																																						uc004bpv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(91-93)CTC>GTC		mitogen-activated protein kinase associated							160.0	120.0	133.0					9																	128434763		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128434763G>C	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.91C>G	9.37:g.128434763G>C	ENSP00000362597:p.Leu31Val					MAPKAP1_uc004bpw.2_Intron|MAPKAP1_uc004bpx.2_Intron|MAPKAP1_uc004bpy.2_Missense_Mutation_p.L31V|MAPKAP1_uc004bpz.2_Missense_Mutation_p.L31V|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.L31V	p.L31V	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			2	424	-			31			Interaction with MAP3K2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.91C>G	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558939	0.86231	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000394060;ENST00000373496;ENST00000433483	.	.	.	5.61	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.65815	0.976;0.981;0.981;0.995	P;P;P;D	0.63381	0.741;0.814;0.855;0.914	T	0.77913	-0.2410	9	0.72032	D	0.01	-0.3139	13.918	0.63914	0.0729:0.0:0.9271:0.0	.	31;31;31;31	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	V	31	.	ENSP00000265960:L31V	L	-	1	0	MAPKAP1	127474584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.762000	0.68809	2.623000	0.88846	0.655000	0.94253	CTC		PASS	0.458	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			4	51	4	51	---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130116584	130116584	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:130116584C>G	ENST00000373387.4	+	19	2006	c.1654C>G	c.(1654-1656)Cgc>Ggc	p.R552G	GARNL3_ENST00000435213.2_Missense_Mutation_p.R530G|GARNL3_ENST00000314904.5_Missense_Mutation_p.R552G	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	552	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)	p.R534G(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAAAGATGCTCGCCTCTTTGT	0.483																																						uc011mae.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1654-1656)CGC>GGC		GTPase activating Rap/RanGAP domain-like 3							76.0	78.0	78.0					9																	130116584		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130116584C>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1654C>G	9.37:g.130116584C>G	ENSP00000362485:p.Arg552Gly					GARNL3_uc011mad.1_Missense_Mutation_p.R530G|GARNL3_uc010mxi.2_5'Flank	p.R552G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			19	2055	+			552			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1654C>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407390	0.83230	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.05258	3.47;3.47;3.47	5.95	5.95	0.96441	Citron-like (2);	0.050804	0.85682	D	0.000000	T	0.21841	0.0526	M	0.71581	2.175	0.80722	D	1	D;D	0.64830	0.968;0.994	P;P	0.58013	0.681;0.831	T	0.00015	-1.2391	9	.	.	.	.	18.9427	0.92610	0.0:1.0:0.0:0.0	.	552;530	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	G	530;552;552	ENSP00000396205:R530G;ENSP00000313970:R552G;ENSP00000362485:R552G	.	R	+	1	0	GARNL3	129156405	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.336000	0.79245	2.826000	0.97356	0.563000	0.77884	CGC		PASS	0.483	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		16	82	16	82	---	---	---	---
ST6GALNAC6	30815	broad.mit.edu	37	9	130653125	130653125	+	Silent	SNP	C	C	G	rs371541181		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:130653125C>G	ENST00000373146.1	-	5	674	c.495G>C	c.(493-495)ctG>ctC	p.L165L	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.L165L|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Silent_p.L131L|ST6GALNAC6_ENST00000373141.1_Silent_p.L131L|ST6GALNAC6_ENST00000291839.5_Silent_p.L165L			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	165					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)	p.L165L(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGCCTCCTCAGCACGCGGA	0.612																																						uc004bso.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)CTG>CTC		sialytransferase 7F							73.0	70.0	71.0					9																	130653125		2203	4300	6503	SO:0001819	synonymous_variant	30815				protein glycosylation	integral to Golgi membrane|plasma membrane		g.chr9:130653125C>G	BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.495G>C	9.37:g.130653125C>G						ST6GALNAC6_uc004bsn.1_Silent_p.L131L|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Silent_p.L165L|ST6GALNAC6_uc004bsq.1_Silent_p.L131L|ST6GALNAC6_uc004bsr.2_Silent_p.L131L|ST6GALNAC6_uc010mxp.1_RNA	p.L165L	NM_013443	NP_038471	Q969X2	SIA7F_HUMAN			5	614	-			165			Lumenal (Potential).		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	ENST00000373146.1	37	c.495G>C	CCDS6882.1																																																																																				PASS	0.612	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054278.1	NM_013443		3	44	3	44	---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3162113	3162113	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:3162113C>T	ENST00000381125.4	+	16	1636	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	PFKP_ENST00000381075.2_Silent_p.A512A	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	520	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.A520A(1)|p.A512A(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGCTGTCAGCCGCCCGGGAGA	0.622											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001igp.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1558-1560)GCC>GCT		phosphofructokinase, platelet							86.0	72.0	77.0					10																	3162113		2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3162113C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1560C>T	10.37:g.3162113C>T			OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	PFKP_uc001igq.2_Silent_p.A512A|PFKP_uc009xhr.2_Silent_p.A482A|PFKP_uc009xhs.1_Silent_p.A304A|PFKP_uc009xht.2_Silent_p.A258A|PFKP_uc009xhu.2_Silent_p.A26A	p.A520A	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	16	1596	+			520					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.1560C>T	CCDS7059.1																																																																																				PASS	0.622	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		21	74	21	74	---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3176761	3176761	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:3176761G>C	ENST00000381125.4	+	20	2185	c.2109G>C	c.(2107-2109)gaG>gaC	p.E703D	PFKP_ENST00000381072.1_Missense_Mutation_p.E121D|PFKP_ENST00000381075.2_Missense_Mutation_p.E695D	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	703	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.E703D(1)|p.E695D(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AACTCAAGGAGGCCCGGGGCA	0.562																																						uc001igp.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(2107-2109)GAG>GAC		phosphofructokinase, platelet							95.0	107.0	103.0					10																	3176761		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3176761G>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2109G>C	10.37:g.3176761G>C	ENSP00000370517:p.Glu703Asp					PFKP_uc001igq.2_Missense_Mutation_p.E695D|PFKP_uc009xhr.2_Missense_Mutation_p.E665D|PFKP_uc009xht.2_Missense_Mutation_p.E441D|PFKP_uc009xhu.2_Missense_Mutation_p.E209D	p.E703D	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	20	2145	+			703					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2109G>C	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.718|8.718	0.913662|0.913662	0.17907|0.17907	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072|ENST00000433193	T;T;T|.	0.81078|.	-1.45;-1.45;-1.12|.	4.68|4.68	-1.18|-1.18	0.09617|0.09617	Phosphofructokinase domain (1);|.	0.105878|.	0.64402|.	D|.	0.000007|.	T|T	0.42404|0.42404	0.1201|0.1201	M|M	0.67397|0.67397	2.05|2.05	0.26547|0.26547	N|N	0.973971|0.973971	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.06405|.	0.002;0.002;0.002|.	T|T	0.41998|0.41998	-0.9477|-0.9477	10|5	0.37606|.	T|.	0.19|.	.|.	5.2688|5.2688	0.15613|0.15613	0.5429:0.1491:0.308:0.0|0.5429:0.1491:0.308:0.0	.|.	695;695;703|.	B3KS15;Q5VSR7;Q01813|.	.;.;K6PP_HUMAN|.	D|T	703;692;695;121|56	ENSP00000370517:E703D;ENSP00000370465:E695D;ENSP00000370462:E121D|.	ENSP00000370462:E121D|.	E|R	+|+	3|2	2|0	PFKP|PFKP	3166761|3166761	0.857000|0.857000	0.29778|0.29778	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	1.278000|1.278000	0.33179|0.33179	-0.153000|-0.153000	0.11137|0.11137	0.650000|0.650000	0.86243|0.86243	GAG|AGG		PASS	0.562	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		11	284	11	284	---	---	---	---
ATP5C1	509	broad.mit.edu	37	10	7830204	7830204	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:7830204G>C	ENST00000356708.7	+	1	113	c.34G>C	c.(34-36)Gcc>Ccc	p.A12P	KIN_ENST00000535925.1_5'Flank|ATP5C1_ENST00000541227.1_5'UTR|ATP5C1_ENST00000493053.1_3'UTR|KIN_ENST00000379562.4_5'Flank|ATP5C1_ENST00000335698.4_Missense_Mutation_p.A12P|KIN_ENST00000543003.1_5'Flank	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	12					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.A12P(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						TGGGCTGTCGGCCTGGACCTT	0.667																																					Melanoma(143;1012 1820 16249 30920 33158)	uc001iju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)GCC>CCC		ATP synthase, H+ transporting, mitochondrial F1							38.0	35.0	36.0					10																	7830204		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7830204G>C	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.34G>C	10.37:g.7830204G>C	ENSP00000349142:p.Ala12Pro					KIN_uc010qaz.1_5'Flank|KIN_uc001ijt.2_5'Flank|KIN_uc009xip.2_5'Flank|KIN_uc010qba.1_5'Flank|ATP5C1_uc010qbb.1_Missense_Mutation_p.A12P|ATP5C1_uc009xiq.1_Missense_Mutation_p.A12P|ATP5C1_uc010qbc.1_5'UTR|ATP5C1_uc001ijv.2_Missense_Mutation_p.A12P	p.A12P	NM_001001973	NP_001001973	P36542	ATPG_HUMAN			1	112	+			12					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.34G>C	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.947428	0.34377	.	.	ENSG00000165629	ENST00000356708;ENST00000335698	.	.	.	5.86	5.86	0.93980	.	0.093252	0.46758	D	0.000267	T	0.37839	0.1018	N	0.14661	0.345	0.80722	D	1	P	0.46859	0.885	B	0.40410	0.328	T	0.33548	-0.9864	9	0.48119	T	0.1	-9.8133	15.2819	0.73790	0.0:0.2091:0.7909:0.0	.	12	P36542	ATPG_HUMAN	P	12	.	ENSP00000338568:A12P	A	+	1	0	ATP5C1	7870210	0.781000	0.28676	0.997000	0.53966	0.007000	0.05969	1.779000	0.38624	2.775000	0.95449	0.655000	0.94253	GCC		PASS	0.667	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		28	54	28	54	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15688934	15688934	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:15688934T>A	ENST00000378076.3	-	12	1471	c.1118A>T	c.(1117-1119)gAc>gTc	p.D373V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	373					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.D373V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GATCTGGGGGTCTCTGAAGAG	0.483																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1117-1119)GAC>GTC		integrin, alpha 8 precursor							123.0	110.0	114.0					10																	15688934		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15688934T>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1118A>T	10.37:g.15688934T>A	ENSP00000367316:p.Asp373Val					ITGA8_uc010qcb.1_Missense_Mutation_p.D358V	p.D373V	NM_003638	NP_003629	P53708	ITA8_HUMAN			12	1118	-			373			Extracellular (Potential).|FG-GAP 6.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1118A>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.697152	0.48202	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.23147	1.92	5.35	4.2	0.49525	.	0.238307	0.46758	D	0.000273	T	0.43831	0.1265	M	0.67517	2.055	0.80722	D	1	D;D	0.69078	0.997;0.996	D;P	0.63113	0.911;0.818	T	0.21621	-1.0240	10	0.33141	T	0.24	.	12.3731	0.55265	0.0:0.0:0.1412:0.8588	.	358;373	F5H818;P53708	.;ITA8_HUMAN	V	373;358	ENSP00000367316:D373V	ENSP00000367316:D373V	D	-	2	0	ITGA8	15728940	1.000000	0.71417	0.789000	0.31954	0.624000	0.37722	4.866000	0.63005	0.841000	0.35020	0.460000	0.39030	GAC		PASS	0.483	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		42	122	42	122	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18250593	18250593	+	Silent	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:18250593T>A	ENST00000377369.2	+	3	618	c.345T>A	c.(343-345)tcT>tcA	p.S115S	SLC39A12_ENST00000377374.4_Silent_p.S115S|SLC39A12_ENST00000377371.3_Silent_p.S115S|SLC39A12_ENST00000539911.1_5'UTR	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	115					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.S115S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AGAGAGTTTCTCTTCTCCTTC	0.363																																						uc001ipo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(343-345)TCT>TCA		solute carrier family 39 (zinc transporter),							97.0	103.0	101.0					10																	18250593		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18250593T>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.345T>A	10.37:g.18250593T>A						SLC39A12_uc001ipn.2_Silent_p.S115S|SLC39A12_uc001ipp.2_Silent_p.S115S|SLC39A12_uc010qck.1_5'UTR	p.S115S	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			3	618	+			115			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.345T>A	CCDS44362.1																																																																																				PASS	0.363	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		50	105	50	105	---	---	---	---
MPP7	143098	broad.mit.edu	37	10	28345547	28345547	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:28345547C>T	ENST00000375732.1	-	16	1672	c.1413G>A	c.(1411-1413)gtG>gtA	p.V471V	MPP7_ENST00000337532.5_Silent_p.V471V|MPP7_ENST00000445954.2_3'UTR|MPP7_ENST00000540098.1_Silent_p.V471V|MPP7_ENST00000375719.3_Silent_p.V471V			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	471	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)	p.V471V(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTAAATGCTTCACTGTCTACA	0.308																																						uc001iua.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1411-1413)GTG>GTA		palmitoylated membrane protein 7							99.0	98.0	98.0					10																	28345547		2202	4300	6502	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28345547C>T	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1413G>A	10.37:g.28345547C>T						MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.V471V|MPP7_uc009xla.2_Silent_p.V471V|MPP7_uc010qdv.1_RNA	p.V471V	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			18	1817	-			471			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.1413G>A	CCDS7158.1																																																																																				PASS	0.308	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		5	125	5	125	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37442554	37442554	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:37442554C>A	ENST00000602533.1	+	13	1693	c.1594C>A	c.(1594-1596)Caa>Aaa	p.Q532K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q532K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q532K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	588					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q532K(1)|p.Q532E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCTACACATCAAAAAGAAAT	0.313																																						uc001iza.1																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(1)|skin(1)	9						c.(1594-1596)CAA>AAA		ankyrin repeat domain 30A							147.0	146.0	146.0					10																	37442554		1804	4061	5865	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442554C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1594C>A	10.37:g.37442554C>A	ENSP00000473551:p.Gln532Lys						p.Q532K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			13	1693	+			588					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1594C>A		.	.	.	.	.	.	.	.	.	.	.	0.008	-1.881017	0.00532	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06449	3.3;3.3	1.47	-2.95	0.05564	.	.	.	.	.	T	0.07098	0.0180	L	0.34521	1.04	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.12553	-1.0543	9	0.02654	T	1	.	8.4361	0.32789	0.0:0.3257:0.6743:0.0	.	588	Q9BXX3	AN30A_HUMAN	K	532	ENSP00000354432:Q532K;ENSP00000363792:Q532K	ENSP00000354432:Q532K	Q	+	1	0	ANKRD30A	37482560	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.310000	0.19356	-0.745000	0.04772	0.384000	0.25694	CAA		PASS	0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		68	409	68	409	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582959	55582959	+	Silent	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:55582959A>T	ENST00000320301.6	-	33	4921	c.4527T>A	c.(4525-4527)tcT>tcA	p.S1509S	PCDH15_ENST00000361849.3_Silent_p.S1511S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Silent_p.S1440S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1506S|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.S1486S|PCDH15_ENST00000395432.2_Silent_p.S1469S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1509					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.S1509S(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTTTCTTGCAGACTTCAGTT	0.373										HNSCC(58;0.16)																												uc001jju.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4525-4527)TCT>TCA		protocadherin 15 isoform CD1-4 precursor							93.0	94.0	93.0					10																	55582959		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582959A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4527T>A	10.37:g.55582959A>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.S1506S|PCDH15_uc010qhw.1_Silent_p.S1469S|PCDH15_uc010qhx.1_Silent_p.S1440S|PCDH15_uc010qhy.1_Silent_p.S1516S|PCDH15_uc010qhz.1_Silent_p.S1511S|PCDH15_uc010qia.1_Silent_p.S1489S|PCDH15_uc010qib.1_Silent_p.S1486S	p.S1509S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	4922	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1509			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4527T>A	CCDS7248.1																																																																																				PASS	0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		53	48	53	48	---	---	---	---
EGR2	1959	broad.mit.edu	37	10	64573229	64573229	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:64573229C>G	ENST00000242480.3	-	2	1494	c.1169G>C	c.(1168-1170)cGc>cCc	p.R390P	EGR2_ENST00000411732.1_Missense_Mutation_p.R340P|EGR2_ENST00000439032.1_Missense_Mutation_p.R390P|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	390					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.R390P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTGTGGGTGCGGATATGGGT	0.587																																						uc010qim.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1168-1170)CGC>CCC		early growth response 2 protein isoform a							152.0	142.0	145.0					10																	64573229		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64573229C>G	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.1169G>C	10.37:g.64573229C>G	ENSP00000242480:p.Arg390Pro					EGR2_uc010qin.1_Missense_Mutation_p.R340P|EGR2_uc001jmi.2_Missense_Mutation_p.R390P|EGR2_uc010qio.1_Missense_Mutation_p.R403P|EGR2_uc009xph.2_Missense_Mutation_p.R390P	p.R390P	NM_001136177	NP_001129649	P11161	EGR2_HUMAN			3	1323	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		390			C2H2-type 2.		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.1169G>C	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065999	0.76187	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732	T;T;T	0.25749	1.78;1.78;1.78	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63686	0.2532	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75121	-0.3429	10	0.87932	D	0	-19.5709	17.2741	0.87110	0.0:1.0:0.0:0.0	.	340;390	P11161-2;P11161	.;EGR2_HUMAN	P	390;390;340	ENSP00000242480:R390P;ENSP00000402040:R390P;ENSP00000387634:R340P	ENSP00000242480:R390P	R	-	2	0	EGR2	64243235	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.609000	0.82925	2.597000	0.87782	0.655000	0.94253	CGC		PASS	0.587	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		28	197	28	197	---	---	---	---
C10orf55	414236	broad.mit.edu	37	10	75675040	75675040	+	Intron	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:75675040G>C	ENST00000409178.1	-	2	268				C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000446342.1_Missense_Mutation_p.M317I|PLAU_ENST00000372762.4_Missense_Mutation_p.M298I|PLAU_ENST00000372764.3_Missense_Mutation_p.M334I	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.M334I(1)		endometrium(1)	1	Prostate(51;0.0112)					AGCTGAAAATGACTGTTGTGA	0.532																																						uc001jwa.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)	3						c.(1000-1002)ATG>ATC		plasminogen activator, urokinase isoform 1	Amiloride(DB00594)|Urokinase(DB00013)						103.0	101.0	102.0					10																	75675040		2203	4300	6503	SO:0001627	intron_variant	5328				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr10:75675040G>C		CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+1236C>G	10.37:g.75675040G>C						C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.M317I|PLAU_uc010qkx.1_Missense_Mutation_p.M248I|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.M334I|PLAU_uc009xrq.1_Missense_Mutation_p.M298I	p.M334I	NM_002658	NP_002649	P00749	UROK_HUMAN			10	1148	+	Prostate(51;0.0112)		334			Peptidase S1.		Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	c.1002G>C	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121763	0.77436	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.88509	-2.39;-2.39;-2.39	5.74	4.83	0.62350	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.350073	0.35495	N	0.003179	D	0.85500	0.5711	N	0.16166	0.38	0.80722	D	1	P;P;D;P	0.60160	0.656;0.534;0.987;0.53	P;P;P;B	0.56700	0.515;0.647;0.804;0.084	D	0.86000	0.1494	10	0.66056	D	0.02	.	9.6928	0.40139	0.0918:0.0:0.9082:0.0	.	317;298;334;334	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	I	317;334;298;298	ENSP00000388474:M317I;ENSP00000361850:M334I;ENSP00000361848:M298I	ENSP00000361847:M298I	M	+	3	0	PLAU	75345046	0.987000	0.35691	0.999000	0.59377	0.996000	0.88848	1.395000	0.34520	2.715000	0.92844	0.655000	0.94253	ATG		PASS	0.532	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1	NM_001001791		73	63	73	63	---	---	---	---
NOC3L	64318	broad.mit.edu	37	10	96098477	96098477	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:96098477T>C	ENST00000371361.3	-	18	2079	c.1979A>G	c.(1978-1980)gAt>gGt	p.D660G	NOC3L_ENST00000543788.1_Missense_Mutation_p.D398G|NOC3L_ENST00000371350.1_Missense_Mutation_p.D660G	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	660					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D660G(1)		endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				AAGCAGTAGATCTGTTTTGGG	0.393																																						uc001kjq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1978-1980)GAT>GGT		nucleolar complex associated 3 homolog							92.0	86.0	88.0					10																	96098477		2203	4300	6503	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96098477T>C	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1979A>G	10.37:g.96098477T>C	ENSP00000360412:p.Asp660Gly						p.D660G	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			18	2067	-		Colorectal(252;0.0897)	660					Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.1979A>G	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713896	0.68730	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.21191	2.02;2.02;2.02	5.54	5.54	0.83059	CCAAT-binding factor (1);	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	L	0.55743	1.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.06826	-1.0805	10	0.27082	T	0.32	-25.8313	15.9774	0.80079	0.0:0.0:0.0:1.0	.	660	Q8WTT2	NOC3L_HUMAN	G	398;660;660	ENSP00000437838:D398G;ENSP00000360412:D660G;ENSP00000360401:D660G	ENSP00000360401:D660G	D	-	2	0	NOC3L	96088467	1.000000	0.71417	0.997000	0.53966	0.964000	0.63967	7.647000	0.83462	2.243000	0.73865	0.482000	0.46254	GAT		PASS	0.393	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1	NM_022451		47	47	47	47	---	---	---	---
CYP17A1	1586	broad.mit.edu	37	10	104590510	104590510	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:104590510C>G	ENST00000369887.3	-	8	1647	c.1476G>C	c.(1474-1476)aaG>aaC	p.K492N	CYP17A1_ENST00000489268.1_5'Flank|CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	492					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)	p.K492N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GCACCTTGATCTTCACTTTGA	0.587																																						uc001kwg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1474-1476)AAG>AAC		cytochrome P450, family 17	NADH(DB00157)|Progesterone(DB00396)						31.0	30.0	30.0					10																	104590510		2203	4300	6503	SO:0001583	missense	1586				androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	g.chr10:104590510C>G	M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1476G>C	10.37:g.104590510C>G	ENSP00000358903:p.Lys492Asn					C10orf26_uc009xxg.1_RNA	p.K492N	NM_000102	NP_000093	P05093	CP17A_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1648	-		Colorectal(252;0.122)|all_hematologic(284;0.152)	492					Q5TZV7	Missense_Mutation	SNP	ENST00000369887.3	37	c.1476G>C	CCDS7541.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360211	0.41801	.	.	ENSG00000148795	ENST00000369887	T	0.70399	-0.48	5.63	4.72	0.59763	.	0.174433	0.53938	D	0.000055	T	0.66406	0.2786	L	0.43152	1.355	0.35913	D	0.83125	P	0.36086	0.536	B	0.44224	0.444	T	0.67945	-0.5539	10	0.20046	T	0.44	.	10.8366	0.46690	0.0:0.8517:0.0:0.1483	.	492	P05093	CP17A_HUMAN	N	492	ENSP00000358903:K492N	ENSP00000358903:K492N	K	-	3	2	CYP17A1	104580500	0.949000	0.32298	0.991000	0.47740	0.992000	0.81027	0.631000	0.24568	1.351000	0.45789	0.561000	0.74099	AAG		PASS	0.587	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050101.1	NM_000102		15	17	15	17	---	---	---	---
DUSP5	1847	broad.mit.edu	37	10	112270047	112270047	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:112270047G>T	ENST00000369583.3	+	4	1302	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	340	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.G340C(2)		kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTCACTGATAGGCCATTTGCA	0.617																																						uc001kzd.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1018-1020)GGC>TGC		dual specificity phosphatase 5							42.0	40.0	41.0					10																	112270047		2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112270047G>T	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.1018G>T	10.37:g.112270047G>T	ENSP00000358596:p.Gly340Cys						p.G340C	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	4	1273	+		Breast(234;0.0848)	340			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.1018G>T	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203296	0.58234	.	.	ENSG00000138166	ENST00000369583	T	0.29655	1.56	5.86	4.94	0.65067	.	0.564340	0.20374	N	0.093598	T	0.23492	0.0568	N	0.14661	0.345	0.43719	D	0.996194	B	0.26876	0.162	B	0.32980	0.156	T	0.09862	-1.0655	10	0.62326	D	0.03	.	14.4961	0.67688	0.0715:0.0:0.9285:0.0	.	340	Q16690	DUS5_HUMAN	C	340	ENSP00000358596:G340C	ENSP00000358596:G340C	G	+	1	0	DUSP5	112260037	1.000000	0.71417	0.895000	0.35142	0.856000	0.48823	6.750000	0.74888	2.778000	0.95560	0.655000	0.94253	GGC		PASS	0.617	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		25	31	25	31	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118203982	118203982	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:118203982G>A	ENST00000369230.3	+	4	559	c.413G>A	c.(412-414)cGt>cAt	p.R138H		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	138					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.R138H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACAATCTCCGTGTTGTTGGT	0.353																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)CGT>CAT		pancreatic lipase-related protein 3 precursor							185.0	178.0	181.0					10																	118203982		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118203982G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.413G>A	10.37:g.118203982G>A	ENSP00000358232:p.Arg138His						p.R138H	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	4	514	+			138						Missense_Mutation	SNP	ENST00000369230.3	37	c.413G>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.008877	0.54361	.	.	ENSG00000203837	ENST00000369230	D	0.91180	-2.8	5.09	0.44	0.16572	Lipase, N-terminal (1);	0.097175	0.44285	D	0.000465	D	0.93729	0.7996	M	0.82823	2.61	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86342	0.1705	10	0.87932	D	0	.	6.305	0.21133	0.1863:0.2547:0.559:0.0	.	138	Q17RR3	LIPR3_HUMAN	H	138	ENSP00000358232:R138H	ENSP00000358232:R138H	R	+	2	0	PNLIPRP3	118193972	0.363000	0.24989	0.000000	0.03702	0.052000	0.14988	1.653000	0.37323	-0.116000	0.11893	0.591000	0.81541	CGT		PASS	0.353	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		114	78	114	78	---	---	---	---
PNLIPRP1	5407	broad.mit.edu	37	10	118364922	118364922	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:118364922C>G	ENST00000528052.1	+	12	1268	c.1197C>G	c.(1195-1197)acC>acG	p.T399T	PNLIPRP1_ENST00000534537.1_Silent_p.T399T|PNLIPRP1_ENST00000358834.4_Silent_p.T399T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	399	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.T399T(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CAGGCTCAACCCATTCCTATG	0.408																																						uc001lco.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1195-1197)ACC>ACG		pancreatic lipase-related protein 1 precursor							151.0	149.0	150.0					10																	118364922		2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118364922C>G	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1197C>G	10.37:g.118364922C>G						PNLIPRP1_uc001lcp.2_Silent_p.T399T	p.T399T	NM_006229	NP_006220	P54315	LIPR1_HUMAN		all cancers(201;0.0161)	12	1215	+			399			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.1197C>G	CCDS7595.1																																																																																				PASS	0.408	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		80	77	80	77	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127789652	127789652	+	Silent	SNP	C	C	T	rs377680010		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:127789652C>T	ENST00000368679.4	-	9	1218	c.909G>A	c.(907-909)gcG>gcA	p.A303A	ADAM12_ENST00000368676.4_Silent_p.A303A	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	303	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.A303A(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TGACAAGCTGCGCATTGTCAT	0.507																																						uc001ljk.2																			3	Substitution - coding silent(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(907-909)GCG>GCA		ADAM metallopeptidase domain 12 isoform 1		C	,	0,4406		0,0,2203	85.0	75.0	78.0		909,909	-10.6	0.0	10		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADAM12	NM_003474.4,NM_021641.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	303/910,303/739	127789652	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127789652C>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.909G>A	10.37:g.127789652C>T						ADAM12_uc010qul.1_Silent_p.A254A|ADAM12_uc001ljm.2_Silent_p.A303A|ADAM12_uc001ljn.2_Silent_p.A300A|ADAM12_uc001ljl.3_Silent_p.A300A	p.A303A	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	9	1322	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	303			Extracellular (Potential).|Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.909G>A	CCDS7653.1																																																																																				PASS	0.507	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			36	32	36	32	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135015346	135015346	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr10:135015346G>T	ENST00000304613.3	+	17	3352	c.3331G>T	c.(3331-3333)Gtg>Ttg	p.V1111L	KNDC1_ENST00000368572.2_Missense_Mutation_p.V1113L|KNDC1_ENST00000368571.2_Missense_Mutation_p.V1046L			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1111					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V1111L(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACAACTACGTGAAGGACCT	0.726																																						uc001llz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(3331-3333)GTG>TTG		kinase non-catalytic C-lobe domain (KIND)							4.0	5.0	5.0					10																	135015346		2088	4113	6201	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135015346G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3331G>T	10.37:g.135015346G>T	ENSP00000304437:p.Val1111Leu					KNDC1_uc001lma.1_Missense_Mutation_p.V1046L|KNDC1_uc001lmb.1_Missense_Mutation_p.V523L	p.V1111L	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	17	3332	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1111					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.3331G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726541	0.48833	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.07800	3.16;3.16;3.16	5.06	3.13	0.36017	.	0.203527	0.34133	N	0.004234	T	0.15696	0.0378	M	0.62723	1.935	0.09310	N	1	P;P;B	0.51537	0.583;0.946;0.203	B;P;B	0.51999	0.341;0.687;0.046	T	0.03717	-1.1010	10	0.45353	T	0.12	-22.1098	10.0815	0.42393	0.0:0.1494:0.6957:0.1549	.	1111;1046;1111	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	L	1111;1113;1046	ENSP00000304437:V1111L;ENSP00000357561:V1113L;ENSP00000357560:V1046L	ENSP00000304437:V1111L	V	+	1	0	KNDC1	134865336	0.450000	0.25697	0.003000	0.11579	0.093000	0.18481	1.217000	0.32455	0.599000	0.29845	0.313000	0.20887	GTG		PASS	0.726	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		5	3	5	3	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281085	281085	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:281085G>A	ENST00000312165.5	+	4	1351	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	NLRP6_ENST00000534750.1_Missense_Mutation_p.E451K	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	451	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.E451K(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTGGCCCGCGAGGGCGTCCT	0.627																																						uc010qvs.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1351-1353)GAG>AAG		NLR family, pyrin domain containing 6							54.0	61.0	59.0					11																	281085		2201	4298	6499	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281085G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1351G>A	11.37:g.281085G>A	ENSP00000309767:p.Glu451Lys					NLRP6_uc010qvt.1_Missense_Mutation_p.E451K	p.E451K	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1351	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	451			NACHT.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1351G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478778	0.26511	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.77489	-1.1;-1.08	3.08	0.0837	0.14434	NACHT nucleoside triphosphatase (1);	0.401401	0.18383	N	0.142907	T	0.69278	0.3093	L	0.60845	1.875	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.12837	0.008;0.001	T	0.61357	-0.7079	10	0.62326	D	0.03	.	7.0921	0.25289	0.3457:0.0:0.6543:0.0	.	451;451	E9PJZ8;P59044	.;NALP6_HUMAN	K	451	ENSP00000433617:E451K;ENSP00000309767:E451K	ENSP00000309767:E451K	E	+	1	0	NLRP6	271085	0.000000	0.05858	0.167000	0.22817	0.849000	0.48306	-0.128000	0.10531	0.021000	0.15133	-0.463000	0.05309	GAG		PASS	0.627	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	93	4	93	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1088759	1088759	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:1088759G>C	ENST00000441003.2	+	26	3571	c.3544G>C	c.(3544-3546)Gtc>Ctc	p.V1182L	MUC2_ENST00000359061.5_Missense_Mutation_p.V1182L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1182					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.V1182L(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAAGAAGTGTGTCACTGCAGA	0.602																																						uc001lsx.1																			2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(3544-3546)GTC>CTC		mucin 2 precursor	Pranlukast(DB01411)						68.0	76.0	73.0					11																	1088759		2092	4209	6301	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1088759G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3544G>C	11.37:g.1088759G>C	ENSP00000415183:p.Val1182Leu						p.V1182L	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	26	3571	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1182					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.3544G>C		.	.	.	.	.	.	.	.	.	.	G	14.78	2.636552	0.47049	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.62788	-0.0;-0.0	3.73	3.73	0.42828	.	0.544608	0.13612	U	0.375044	T	0.82130	0.4970	M	0.88842	2.985	0.38794	D	0.955059	D	0.71674	0.998	D	0.73380	0.98	D	0.86058	0.1530	10	0.72032	D	0.01	.	15.7628	0.78101	0.0:0.0:1.0:0.0	.	1182	E7EUV1	.	L	1182	ENSP00000415183:V1182L;ENSP00000351956:V1182L	ENSP00000351956:V1182L	V	+	1	0	MUC2	1078759	1.000000	0.71417	0.991000	0.47740	0.385000	0.30292	7.322000	0.79097	1.923000	0.55706	0.456000	0.33151	GTC		PASS	0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		9	9	9	9	---	---	---	---
SMPD1	6609	broad.mit.edu	37	11	6413084	6413084	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:6413084G>C	ENST00000342245.4	+	2	957	c.789G>C	c.(787-789)ttG>ttC	p.L263F	SMPD1_ENST00000299397.3_Missense_Mutation_p.L263F|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.L262F|SMPD1_ENST00000356761.2_Missense_Mutation_p.L263F	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	261					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.L263F(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	AGAGCCTGTTGAGTGGGCTGG	0.647																																						uc001mcw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(787-789)TTG>TTC		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						77.0	94.0	88.0					11																	6413084		2199	4296	6495	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6413084G>C	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.789G>C	11.37:g.6413084G>C	ENSP00000340409:p.Leu263Phe					SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.L263F|SMPD1_uc009yew.2_Missense_Mutation_p.L262F	p.L263F	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	963	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	261					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.789G>C	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743668	0.49151	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69	5.02	2.09	0.27110	Metallophosphoesterase domain (1);	0.000000	0.64402	D	0.000013	D	0.92064	0.7485	N	0.13235	0.315	0.48135	D	0.999594	P;P;P	0.52692	0.955;0.598;0.65	P;B;B	0.54060	0.741;0.355;0.34	D	0.89613	0.3843	10	0.44086	T	0.13	-30.8525	9.7671	0.40567	0.2366:0.0:0.7634:0.0	.	262;263;261	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	F	263;263;263;262	ENSP00000299397:L263F;ENSP00000349203:L263F;ENSP00000340409:L263F;ENSP00000435350:L262F	ENSP00000299397:L263F	L	+	3	2	SMPD1	6369660	1.000000	0.71417	0.972000	0.41901	0.975000	0.68041	2.671000	0.46842	0.529000	0.28599	-0.254000	0.11334	TTG		PASS	0.647	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		11	113	11	113	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17464794	17464794	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:17464794G>T	ENST00000389817.3	-	9	1466	c.1398C>A	c.(1396-1398)gtC>gtA	p.V466V	ABCC8_ENST00000528202.1_5'Flank|ABCC8_ENST00000302539.4_Silent_p.V466V			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	466	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|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 ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.V466V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTAGAATGATGACAGCTGCTC	0.537																																						uc001mnc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1396-1398)GTC>GTA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						133.0	110.0	118.0					11																	17464794		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17464794G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1398C>A	11.37:g.17464794G>T						ABCC8_uc010rcy.1_Silent_p.V465V	p.V466V	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	9	1524	-			466			Helical; Name=9; (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.1398C>A	CCDS31437.1																																																																																				PASS	0.537	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		32	55	32	55	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22291958	22291958	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:22291958C>G	ENST00000324559.8	+	18	2316	c.1999C>G	c.(1999-2001)Ctt>Gtt	p.L667V	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	667					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L667V(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTTGGACCCCTTGGGCTTTT	0.428																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1999-2001)CTT>GTT		anoctamin 5 isoform a							168.0	171.0	170.0					11																	22291958		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22291958C>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1999C>G	11.37:g.22291958C>G	ENSP00000315371:p.Leu667Val					ANO5_uc001mqj.2_Missense_Mutation_p.L666V	p.L667V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			18	2316	+			667			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1999C>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.881205	0.33255	.	.	ENSG00000171714	ENST00000324559	T	0.62941	-0.01	5.71	3.77	0.43336	.	0.187114	0.47852	D	0.000201	T	0.71846	0.3388	M	0.83223	2.63	0.32981	D	0.52364	D	0.55800	0.973	D	0.64237	0.923	T	0.73757	-0.3882	10	0.17369	T	0.5	.	4.6736	0.12701	0.1704:0.599:0.0:0.2306	.	667	Q75V66	ANO5_HUMAN	V	667	ENSP00000315371:L667V	ENSP00000315371:L667V	L	+	1	0	ANO5	22248534	0.811000	0.29063	0.083000	0.20561	0.245000	0.25701	1.389000	0.34453	1.337000	0.45525	0.655000	0.94253	CTT		PASS	0.428	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		29	66	29	66	---	---	---	---
LGR4	55366	broad.mit.edu	37	11	27402514	27402514	+	Splice_Site	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:27402514C>G	ENST00000379214.4	-	8	1202		c.e8-1		LGR4_ENST00000389858.4_Splice_Site	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4						bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ATGAAATCCTCTAGAAAGATA	0.299																																						uc001mrj.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e8-1		leucine-rich repeat-containing G protein-coupled							37.0	40.0	39.0					11																	27402514		2199	4289	6488	SO:0001630	splice_region_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27402514C>G	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.759-1G>C	11.37:g.27402514C>G						LGR4_uc001mrk.3_Splice_Site_p.L229_splice	p.L253_splice	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			8	1244	-								A6NCH3|G5E9B3|Q8N537|Q9NYD1	Splice_Site	SNP	ENST00000379214.4	37	c.759_splice	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997428	0.74818	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6505	0.91429	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LGR4	27359090	1.000000	0.71417	0.994000	0.49952	0.812000	0.45895	7.491000	0.81471	2.473000	0.83533	0.460000	0.39030	.		PASS	0.299	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490	Intron	8	65	8	65	---	---	---	---
FBXO3	26273	broad.mit.edu	37	11	33763558	33763558	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:33763558C>G	ENST00000265651.3	-	11	1330	c.1312G>C	c.(1312-1314)Gat>Cat	p.D438H	FBXO3_ENST00000532057.1_Missense_Mutation_p.D125H|FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000526785.1_Missense_Mutation_p.D325H|FBXO3_ENST00000531080.1_Missense_Mutation_p.D125H	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	438	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.D438H(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TCTGCTGAATCATCAtcctcg	0.448																																						uc001muz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1312-1314)GAT>CAT		F-box only protein 3 isoform 1							196.0	149.0	165.0					11																	33763558		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33763558C>G	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1312G>C	11.37:g.33763558C>G	ENSP00000265651:p.Asp438His					FBXO3_uc010rej.1_Missense_Mutation_p.D125H|FBXO3_uc001muy.2_Missense_Mutation_p.D325H|FBXO3_uc009ykb.2_RNA	p.D438H	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	11	1340	-		Lung NSC(402;0.0804)	438			Asp/Glu-rich (highly acidic).		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.1312G>C	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758319	0.31137	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.68479	1.41;1.41;-0.33;-0.33	3.7	3.7	0.42460	.	.	.	.	.	T	0.69169	0.3081	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.72581	-0.4250	9	0.52906	T	0.07	-14.1349	14.1055	0.65085	0.0:1.0:0.0:0.0	.	438	Q9UK99	FBX3_HUMAN	H	325;438;125;125	ENSP00000435680:D325H;ENSP00000265651:D438H;ENSP00000435165:D125H;ENSP00000434001:D125H	ENSP00000265651:D438H	D	-	1	0	FBXO3	33720134	0.999000	0.42202	0.775000	0.31657	0.803000	0.45373	4.198000	0.58419	2.006000	0.58801	0.561000	0.74099	GAT		PASS	0.448	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		17	24	17	24	---	---	---	---
ABTB2	25841	broad.mit.edu	37	11	34378571	34378571	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:34378571A>T	ENST00000435224.2	-	1	984	c.560T>A	c.(559-561)aTg>aAg	p.M187K	ABTB2_ENST00000298992.2_Start_Codon_SNP_p.M1K	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	187					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)		p.M1K(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)				GCCGGCGCTCATGCTGTACAG	0.697																																						uc001mvl.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1-3)ATG>AAG		ankyrin repeat and BTB (POZ) domain containing							10.0	11.0	11.0					11																	34378571		2170	4252	6422	SO:0001583	missense	25841						DNA binding	g.chr11:34378571A>T	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.560T>A	11.37:g.34378571A>T	ENSP00000410157:p.Met187Lys						p.M1K	NM_145804	NP_665803	Q8N961	ABTB2_HUMAN			1	232	-		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)	1					A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	ENST00000435224.2	37	c.2T>A	CCDS7890.2	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639870	0.87760	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.63255	0.01;-0.03	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.81061	-0.1103	9	0.87932	D	0	-12.4139	12.6691	0.56857	1.0:0.0:0.0:0.0	.	1	Q8N961	ABTB2_HUMAN	K	187;1	ENSP00000410157:M187K;ENSP00000298992:M1K	ENSP00000298992:M1K	M	-	2	0	ABTB2	34335147	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.872000	0.92352	1.592000	0.50018	0.374000	0.22700	ATG		PASS	0.697	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388703.3	NM_145804		6	10	6	10	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47297746	47297746	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:47297746A>G	ENST00000311027.5	+	4	1121	c.956A>G	c.(955-957)gAg>gGg	p.E319G	MADD_ENST00000402799.1_Missense_Mutation_p.E319G|MADD_ENST00000406482.1_Missense_Mutation_p.E319G|MADD_ENST00000342922.4_Missense_Mutation_p.E319G|MADD_ENST00000407859.3_Missense_Mutation_p.E319G|MADD_ENST00000349238.3_Missense_Mutation_p.E319G|MADD_ENST00000395336.3_Missense_Mutation_p.E319G|MADD_ENST00000395344.3_Missense_Mutation_p.E319G|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.E319G	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.E319G(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATTCTGTTAGAGCACAAGGTG	0.512																																						uc001ner.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|central_nervous_system(2)	11						c.(955-957)GAG>GGG		MAP-kinase activating death domain-containing							60.0	55.0	56.0					11																	47297746		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47297746A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.956A>G	11.37:g.47297746A>G	ENSP00000310933:p.Glu319Gly					MADD_uc001neq.2_Missense_Mutation_p.E319G|MADD_uc001nev.1_Missense_Mutation_p.E319G|MADD_uc001nes.1_Missense_Mutation_p.E319G|MADD_uc001net.1_Missense_Mutation_p.E319G|MADD_uc009yln.1_Missense_Mutation_p.E319G|MADD_uc001neu.1_Missense_Mutation_p.E319G|MADD_uc001nex.2_Missense_Mutation_p.E319G|MADD_uc001nez.2_Missense_Mutation_p.E319G|MADD_uc001new.2_Missense_Mutation_p.E319G	p.E319G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	4	1147	+			319			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.956A>G	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813722	0.90790	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.75	5.75	0.90469	DENN (3);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	H	0.94925	3.6	0.80722	D	1	D;D;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;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0;0.999;0.999;0.997;0.999;0.999	T	0.75213	-0.3397	10	0.87932	D	0	-26.1255	16.0707	0.80928	1.0:0.0:0.0:0.0	.	319;319;319;319;319;319;319;319;319;319	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	G	319;319;97;319;319;319;319;319;319;319;319	ENSP00000343902:E319G;ENSP00000398167:E97G;ENSP00000385585:E319G;ENSP00000384435:E319G;ENSP00000304505:E319G;ENSP00000310933:E319G;ENSP00000384204:E319G;ENSP00000378753:E319G;ENSP00000378745:E319G;ENSP00000384287:E319G	ENSP00000310933:E319G	E	+	2	0	MADD	47254322	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.923000	0.92808	2.194000	0.70268	0.533000	0.62120	GAG		PASS	0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			25	55	25	55	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48267494	48267494	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:48267494C>T	ENST00000302329.3	+	1	887	c.839C>T	c.(838-840)tCt>tTt	p.S280F		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S280F(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTCATCTACTCTCTGAGAAAT	0.458																																						uc001ngs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(838-840)TCT>TTT		olfactory receptor, family 4, subfamily X,							109.0	102.0	104.0					11																	48267494		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267494C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.839C>T	11.37:g.48267494C>T	ENSP00000307751:p.Ser280Phe						p.S280F	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	839	+			280			Helical; Name=7; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.839C>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591293	0.66219	.	.	ENSG00000172208	ENST00000302329	T	0.37752	1.18	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000058	T	0.60547	0.2277	M	0.80746	2.51	0.30960	N	0.723802	D	0.76494	0.999	D	0.72075	0.976	T	0.67707	-0.5601	10	0.87932	D	0	.	12.5522	0.56233	0.0:0.8326:0.1674:0.0	.	280	Q8NGF9	OR4X2_HUMAN	F	280	ENSP00000307751:S280F	ENSP00000307751:S280F	S	+	2	0	OR4X2	48224070	0.005000	0.15991	1.000000	0.80357	0.962000	0.63368	1.304000	0.33482	2.553000	0.86117	0.650000	0.86243	TCT		PASS	0.458	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		14	62	14	62	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703185	55703185	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:55703185C>T	ENST00000301532.3	-	1	691	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					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.R231H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACTGAAAGAGCGGATCTTTAA	0.458																																						uc010ris.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(691-693)CGC>CAC		olfactory receptor, family 5, subfamily I,							53.0	53.0	53.0					11																	55703185		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703185C>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.692G>A	11.37:g.55703185C>T	ENSP00000301532:p.Arg231His						p.R231H	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	692	-			231			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.692G>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	c	0.805	-0.754018	0.03041	.	.	ENSG00000167825	ENST00000301532	T	0.39229	1.09	5.16	0.931	0.19460	GPCR, rhodopsin-like superfamily (1);	0.141093	0.33180	N	0.005192	T	0.19846	0.0477	N	0.20401	0.57	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.17048	-1.0382	10	0.11485	T	0.65	.	4.6717	0.12692	0.0:0.515:0.1497:0.3353	.	231	Q13606	OR5I1_HUMAN	H	231	ENSP00000301532:R231H	ENSP00000301532:R231H	R	-	2	0	OR5I1	55459761	0.000000	0.05858	0.097000	0.21041	0.057000	0.15508	-6.248000	0.00074	0.297000	0.22615	-0.728000	0.03583	CGC		PASS	0.458	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		3	18	3	18	---	---	---	---
OR5J2	282775	broad.mit.edu	37	11	55945005	55945005	+	Silent	SNP	C	C	A	rs534012364		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:55945005C>A	ENST00000312298.1	+	1	912	c.912C>A	c.(910-912)gcC>gcA	p.A304A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A304A(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)					TGAAAAGGGCCATAGAAATGA	0.383																																						uc010rjb.1																			1	Substitution - coding silent(1)	p.A304D(1)	lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(910-912)GCC>GCA		olfactory receptor, family 5, subfamily J,							60.0	68.0	65.0					11																	55945005		2195	4295	6490	SO:0001819	synonymous_variant	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55945005C>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.912C>A	11.37:g.55945005C>A							p.A304A	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	912	+	Esophageal squamous(21;0.00693)		304			Cytoplasmic (Potential).		Q6IEU5	Silent	SNP	ENST00000312298.1	37	c.912C>A	CCDS31522.1																																																																																				PASS	0.383	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		7	22	7	22	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57506183	57506183	+	Silent	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:57506183T>C	ENST00000278422.4	+	5	501	c.489T>C	c.(487-489)ttT>ttC	p.F163F	C11orf31_ENST00000388857.4_5'Flank|C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Silent_p.F125F|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	163	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.F163F(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGGAGTTCTTTGCCAATTGGT	0.488																																						uc001nlc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)TTT>TTC		thioredoxin domain containing 14 isoform 1							207.0	188.0	194.0					11																	57506183		2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57506183T>C	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.489T>C	11.37:g.57506183T>C						CTNND1_uc001nlf.1_Intron|TMX2_uc001nld.1_Silent_p.F69F|TMX2_uc001nle.1_Silent_p.F125F|C11orf31_uc010rjx.1_5'Flank	p.F163F	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN			5	538	+			163			Cytoplasmic (Potential).|Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.489T>C	CCDS7967.1																																																																																				PASS	0.488	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		64	114	64	114	---	---	---	---
OR1S1	219959	broad.mit.edu	37	11	57982687	57982687	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:57982687C>T	ENST00000309433.6	+	1	471	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L157L(1)		breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCATTTTGCTCACAGTCATCT	0.468																																						uc010rkc.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(469-471)CTC>CTT		olfactory receptor, family 1, subfamily S,							210.0	199.0	203.0					11																	57982687		2201	4296	6497	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982687C>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.471C>T	11.37:g.57982687C>T							p.L157L	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			1	471	+		Breast(21;0.0589)	157			Helical; Name=4; (Potential).		Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.471C>T	CCDS31546.1																																																																																				PASS	0.468	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		7	232	7	232	---	---	---	---
FAM111A	63901	broad.mit.edu	37	11	58920951	58920951	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:58920951G>C	ENST00000528737.1	+	5	4628	c.1810G>C	c.(1810-1812)Gaa>Caa	p.E604Q	FAM111A_ENST00000531147.1_Missense_Mutation_p.E604Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.E604Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E604Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.E604Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	604	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E604Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GCAGGATGTAGAAATGATGAG	0.358																																						uc010rkp.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1810-1812)GAA>CAA		hypothetical protein LOC63901							81.0	84.0	83.0					11																	58920951		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920951G>C	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1810G>C	11.37:g.58920951G>C	ENSP00000434435:p.Glu604Gln					FAM111A_uc010rkq.1_Missense_Mutation_p.E604Q|FAM111A_uc010rkr.1_Missense_Mutation_p.E604Q|FAM111A_uc001nno.2_Missense_Mutation_p.E604Q|FAM111A_uc001nnp.2_Missense_Mutation_p.E604Q|FAM111A_uc001nnq.2_Missense_Mutation_p.E604Q	p.E604Q	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	2037	+		all_epithelial(135;0.139)	604					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1810G>C	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637749	0.47049	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.87	4.02	0.46733	Peptidase cysteine/serine, trypsin-like (1);	0.508177	0.18468	N	0.140302	T	0.70334	0.3212	M	0.65498	2.005	0.25139	N	0.990516	D	0.69078	0.997	D	0.70227	0.968	T	0.61123	-0.7126	10	0.72032	D	0.01	-15.3595	8.8068	0.34943	0.1704:0.0:0.8296:0.0	.	604	Q96PZ2	F111A_HUMAN	Q	604	ENSP00000434435:E604Q;ENSP00000406683:E604Q;ENSP00000355264:E604Q;ENSP00000433154:E604Q;ENSP00000431631:E604Q	ENSP00000355264:E604Q	E	+	1	0	FAM111A	58677527	0.929000	0.31497	0.021000	0.16686	0.379000	0.30106	1.145000	0.31577	0.844000	0.35094	0.655000	0.94253	GAA		PASS	0.358	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		7	72	7	72	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271208	59271208	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:59271208C>T	ENST00000313253.1	+	1	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R54C(2)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGTGAGTCTCGCCTTCACAC	0.498																																						uc001noa.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)|skin(1)	2						c.(160-162)CGC>TGC		olfactory receptor, family 4, subfamily D,							205.0	199.0	201.0					11																	59271208		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271208C>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.160C>T	11.37:g.59271208C>T	ENSP00000320077:p.Arg54Cys						p.R54C	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	160	+			54			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.160C>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515226	0.27123	.	.	ENSG00000176200	ENST00000313253	T	0.01152	5.26	5.45	4.53	0.55603	GPCR, rhodopsin-like superfamily (1);	0.125586	0.36482	N	0.002574	T	0.02304	0.0071	M	0.70108	2.13	0.18873	N	0.999987	B	0.11235	0.004	B	0.14023	0.01	T	0.26883	-1.0090	10	0.48119	T	0.1	-10.5892	13.1502	0.59484	0.0:0.9217:0.0:0.0783	.	54	Q8NGI4	OR4DB_HUMAN	C	54	ENSP00000320077:R54C	ENSP00000320077:R54C	R	+	1	0	OR4D11	59027784	0.000000	0.05858	0.626000	0.29213	0.852000	0.48524	0.379000	0.20585	1.300000	0.44818	0.563000	0.77884	CGC		PASS	0.498	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		8	233	8	233	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271475	59271475	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:59271475G>C	ENST00000313253.1	+	1	427	c.427G>C	c.(427-429)Gcc>Ccc	p.A143P		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A143P(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GCAATGCACTGCCCTCATCTC	0.532																																						uc001noa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(427-429)GCC>CCC		olfactory receptor, family 4, subfamily D,							199.0	173.0	182.0					11																	59271475		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271475G>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.427G>C	11.37:g.59271475G>C	ENSP00000320077:p.Ala143Pro						p.A143P	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	427	+			143			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.427G>C	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	G	9.286	1.049447	0.19827	.	.	ENSG00000176200	ENST00000313253	T	0.00158	8.65	5.29	3.42	0.39159	GPCR, rhodopsin-like superfamily (1);	0.277119	0.24922	N	0.034534	T	0.00241	0.0007	L	0.46947	1.48	0.09310	N	1	P	0.41366	0.747	P	0.54590	0.756	T	0.39583	-0.9607	10	0.41790	T	0.15	-5.5915	7.0246	0.24932	0.162:0.1435:0.6945:0.0	.	143	Q8NGI4	OR4DB_HUMAN	P	143	ENSP00000320077:A143P	ENSP00000320077:A143P	A	+	1	0	OR4D11	59028051	0.000000	0.05858	0.989000	0.46669	0.092000	0.18411	0.343000	0.19944	0.618000	0.30179	0.557000	0.71058	GCC		PASS	0.532	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		59	92	59	92	---	---	---	---
MS4A6A	64231	broad.mit.edu	37	11	59945733	59945733	+	Splice_Site	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:59945733C>A	ENST00000530839.1	-	5	831	c.339G>T	c.(337-339)ttG>ttT	p.L113F	MS4A6A_ENST00000323961.3_Splice_Site_p.L113F|MS4A6A_ENST00000420732.2_Splice_Site_p.L113F|MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000529054.1_Splice_Site_p.L141F|MS4A6A_ENST00000412309.2_Splice_Site_p.L141F|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000426738.2_Splice_Site_p.L68F|MS4A6A_ENST00000528851.1_Splice_Site_p.L113F	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	113						integral component of membrane (GO:0016021)		p.L113F(1)|p.L141F(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTACTCACCAAAAGCTTGG	0.368																																						uc001nor.2																			2	Substitution - Missense(2)		lung(2)		0						c.(337-339)TTG>TTT		membrane-spanning 4-domains, subfamily A, member							150.0	140.0	144.0					11																	59945733		2201	4295	6496	SO:0001630	splice_region_variant	64231					integral to membrane	receptor activity	g.chr11:59945733C>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.339+1G>T	11.37:g.59945733C>A						MS4A6A_uc001noq.2_Missense_Mutation_p.L113F|MS4A6A_uc001nos.3_Missense_Mutation_p.L141F|MS4A6A_uc009ymv.2_Missense_Mutation_p.L113F|MS4A6A_uc001not.2_Missense_Mutation_p.L113F|MS4A6A_uc010rla.1_Missense_Mutation_p.L141F|MS4A6A_uc010rlb.1_Missense_Mutation_p.L68F	p.L113F	NM_152852	NP_690591	Q9H2W1	M4A6A_HUMAN			4	577	-			113			Cytoplasmic (Potential).		A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Missense_Mutation	SNP	ENST00000530839.1	37	c.339G>T	CCDS7981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.58|10.58	1.390704|1.390704	0.25118|0.25118	.|.	.|.	ENSG00000110077|ENSG00000110077	ENST00000323961;ENST00000528851;ENST00000420732;ENST00000530839;ENST00000529054;ENST00000426738;ENST00000412309|ENST00000533989	T;T;T;T;T;T;T|.	0.03889|.	3.77;3.77;3.77;3.77;3.77;3.77;3.77|.	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.429997|.	0.18346|.	N|.	0.144020|.	T|T	0.67344|0.67344	0.2883|0.2883	M|M	0.67625|0.67625	2.065|2.065	0.38421|0.38421	D|D	0.946197|0.946197	D;D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999;0.999|.	D;D;D;D;D|.	0.78314|.	0.991;0.979;0.991;0.988;0.979|.	T|T	0.68812|0.68812	-0.5310|-0.5310	10|5	0.44086|.	T|.	0.13|.	.|.	13.3857|13.3857	0.60795|0.60795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	68;141;141;113;113|.	E7EMT7;F8W9K1;E9PSA9;Q9H2W1;Q9H2W1-3|.	.;.;.;M4A6A_HUMAN;.|.	F|L	113;113;113;113;141;68;141|48	ENSP00000315878:L113F;ENSP00000431901:L113F;ENSP00000392921:L113F;ENSP00000436979:L113F;ENSP00000435844:L141F;ENSP00000392770:L68F;ENSP00000403212:L141F|.	ENSP00000315878:L113F|.	L|W	-|-	3|2	2|0	MS4A6A|MS4A6A	59702309|59702309	0.995000|0.995000	0.38212|0.38212	0.998000|0.998000	0.56505|0.56505	0.044000|0.044000	0.14063|0.14063	1.039000|1.039000	0.30266|0.30266	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	TTG|TGG		PASS	0.368	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1		Missense_Mutation	10	78	10	78	---	---	---	---
DAK	26007	broad.mit.edu	37	11	61110288	61110288	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:61110288C>G	ENST00000394900.3	+	10	1066	c.837C>G	c.(835-837)atC>atG	p.I279M		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	279	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)	p.I279M(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AACTGGGCATCATAGCCGACG	0.597																																						uc001nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)ATC>ATG		dihydroxyacetone kinase 2							69.0	67.0	68.0					11																	61110288		2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110288C>G		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.837C>G	11.37:g.61110288C>G	ENSP00000378360:p.Ile279Met					DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Missense_Mutation_p.I209M	p.I279M	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN			10	1094	+			279			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.837C>G	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548397	0.45383	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.33216	1.42;1.42	5.64	3.79	0.43588	Dak kinase (2);	0.108725	0.64402	D	0.000007	T	0.54775	0.1879	M	0.91561	3.22	0.47276	D	0.999378	P;D	0.57257	0.952;0.979	P;D	0.64877	0.777;0.93	T	0.56068	-0.8040	10	0.72032	D	0.01	-25.2078	3.8808	0.09077	0.1604:0.5183:0.0:0.3212	.	279;279	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	M	279;278	ENSP00000378360:I279M;ENSP00000432539:I278M	ENSP00000378360:I279M	I	+	3	3	DAK	60866864	0.933000	0.31639	0.754000	0.31244	0.257000	0.26127	-0.017000	0.12590	0.761000	0.33130	0.462000	0.41574	ATC		PASS	0.597	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		4	66	4	66	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64670836	64670836	+	Splice_Site	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:64670836T>C	ENST00000377264.3	-	26	3648	c.3536A>G	c.(3535-3537)gAt>gGt	p.D1179G	ATG2A_ENST00000421419.2_Splice_Site_p.D1179G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1179					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.D1179G(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACAGACATAATCTGCAGCAGA	0.577											OREG0004027	type=REGULATORY REGION|Gene=BC053596|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc001obx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3535-3537)GAT>GGT		autophagy related 2A							75.0	67.0	70.0					11																	64670836		2201	4297	6498	SO:0001630	splice_region_variant	23130						protein binding	g.chr11:64670836T>C		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3536-1A>G	11.37:g.64670836T>C			OREG0004027	type=REGULATORY REGION|Gene=BC053596|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1078	ATG2A_uc001obw.2_5'UTR	p.D1179G	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			26	3651	-			1179					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.3536A>G	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.240075	0.79912	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.11712	2.75;2.76	4.74	4.74	0.60224	.	0.061270	0.64402	D	0.000006	T	0.28566	0.0707	M	0.64567	1.98	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	T	0.00995	-1.1487	10	0.46703	T	0.11	.	12.4888	0.55889	0.0:0.0:0.0:1.0	.	1179	Q2TAZ0	ATG2A_HUMAN	G	1179	ENSP00000410522:D1179G;ENSP00000366475:D1179G	ENSP00000366475:D1179G	D	-	2	0	ATG2A	64427412	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.354000	0.66040	1.909000	0.55274	0.459000	0.35465	GAT		PASS	0.577	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	Missense_Mutation	7	53	7	53	---	---	---	---
SNX32	254122	broad.mit.edu	37	11	65618269	65618269	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:65618269G>C	ENST00000308342.6	+	6	971	c.546G>C	c.(544-546)ctG>ctC	p.L182L		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	182					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.L182L(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GAGGGTTTCTGAGGAATATTG	0.592																																						uc001ofr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)CTG>CTC		sorting nexin 6B							59.0	58.0	58.0					11																	65618269		2201	4297	6498	SO:0001819	synonymous_variant	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618269G>C	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.546G>C	11.37:g.65618269G>C							p.L182L	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	6	673	+			182					Q8IW53|Q96NG4	Silent	SNP	ENST00000308342.6	37	c.546G>C	CCDS8113.2																																																																																				PASS	0.592	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		3	29	3	29	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66626556	66626556	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:66626556C>T	ENST00000309602.4	+	1	1584	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	447	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)		p.L447L(1)		breast(1)|lung(1)|prostate(1)	3						ATGAGACCCTCATCTACCGGT	0.652																																						uc001ojr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1339-1341)CTC>CTT		leucine rich repeat and fibronectin type III							58.0	58.0	58.0					11																	66626556		2194	4279	6473	SO:0001819	synonymous_variant	78999					integral to membrane		g.chr11:66626556C>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1341C>T	11.37:g.66626556C>T						PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojs.2_Intron	p.L447L	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			1	1681	+			447			Extracellular (Potential).|Fibronectin type-III.		Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Silent	SNP	ENST00000309602.4	37	c.1341C>T	CCDS8153.1																																																																																				PASS	0.652	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		9	103	9	103	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69063147	69063147	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:69063147G>T	ENST00000308946.3	+	3	680	c.230G>T	c.(229-231)cGg>cTg	p.R77L	MYEOV_ENST00000441339.2_Missense_Mutation_p.R77L|MYEOV_ENST00000535407.1_Missense_Mutation_p.R19L	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	77								p.R77L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGCAGATCCCGGGGCCGCCTC	0.612																																						uc001oov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(229-231)CGG>CTG		myeloma overexpressed							53.0	61.0	58.0					11																	69063147		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69063147G>T	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.230G>T	11.37:g.69063147G>T	ENSP00000308330:p.Arg77Leu					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.R77L|MYEOV_uc001oow.2_Missense_Mutation_p.R19L	p.R77L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	3	680	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		77					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.230G>T	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319450	0.23994	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25085	1.83;1.83;1.82	1.63	0.674	0.17946	.	.	.	.	.	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	P	0.44659	0.84	B	0.33454	0.164	T	0.17561	-1.0365	9	0.87932	D	0	.	4.149	0.10228	0.2248:0.0:0.7752:0.0	.	77	Q96EZ4	MYEOV_HUMAN	L	77;77;19	ENSP00000412482:R77L;ENSP00000308330:R77L;ENSP00000438100:R19L	ENSP00000308330:R77L	R	+	2	0	MYEOV	68819723	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.238000	0.08977	0.250000	0.21479	0.436000	0.28706	CGG		PASS	0.612	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			22	85	22	85	---	---	---	---
ARAP1	116985	broad.mit.edu	37	11	72409030	72409030	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:72409030C>G	ENST00000393609.3	-	19	2865	c.2663G>C	c.(2662-2664)gGc>gCc	p.G888A	ARAP1_ENST00000426523.1_Missense_Mutation_p.G643A|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.G582A|ARAP1_ENST00000334211.8_Missense_Mutation_p.G643A|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.G648A|ARAP1_ENST00000359373.5_Missense_Mutation_p.G888A|ARAP1_ENST00000455638.2_Missense_Mutation_p.G888A	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	888					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.G648A(1)|p.G888A(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAGCTCCGAGCCACTGAGAGA	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2662-2664)GGC>GCC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							24.0	29.0	28.0					11																	72409030		2199	4291	6490	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72409030C>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2663G>C	11.37:g.72409030C>G	ENSP00000377233:p.Gly888Ala					ARAP1_uc001osv.2_Missense_Mutation_p.G888A|ARAP1_uc001osr.2_Missense_Mutation_p.G648A|ARAP1_uc001oss.2_Missense_Mutation_p.G643A|ARAP1_uc009yth.2_Missense_Mutation_p.G582A|ARAP1_uc010rre.1_Missense_Mutation_p.G643A|ARAP1_uc001osw.1_Missense_Mutation_p.G176A	p.G888A	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			19	2852	-			888					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2663G>C	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760841	0.31137	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383	T;T;T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.44	4.52	0.55395	Pleckstrin homology domain (1);	0.056186	0.64402	D	0.000001	T	0.34687	0.0906	L	0.59436	1.845	0.27555	N	0.950362	B;B;B;B;B	0.23377	0.01;0.084;0.003;0.005;0.017	B;B;B;B;B	0.26202	0.03;0.01;0.015;0.016;0.067	T	0.36065	-0.9763	10	0.66056	D	0.02	.	8.7716	0.34735	0.0:0.767:0.1525:0.0805	.	643;582;888;888;648	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	A	888;888;648;643;888;643;582;176;176	ENSP00000352332:G888A;ENSP00000390461:G888A;ENSP00000377230:G648A;ENSP00000335506:G643A;ENSP00000377233:G888A;ENSP00000392264:G643A;ENSP00000403127:G582A;ENSP00000411452:G176A;ENSP00000399118:G176A	ENSP00000335506:G643A	G	-	2	0	ARAP1	72086678	0.928000	0.31464	0.824000	0.32777	0.435000	0.31806	1.418000	0.34782	1.281000	0.44480	0.563000	0.77884	GGC		PASS	0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		11	20	11	20	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82880471	82880471	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:82880471G>C	ENST00000298281.4	+	8	3546	c.3094G>C	c.(3094-3096)Gaa>Caa	p.E1032Q		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1032	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.E1032Q(1)|p.E1131Q(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCCAAGATTTGAAGGTTGTCA	0.493																																						uc001ozx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3094-3096)GAA>CAA		pre-mRNA cleavage complex II protein Pcf11							72.0	70.0	71.0					11																	82880471		1987	4160	6147	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880471G>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3094G>C	11.37:g.82880471G>C	ENSP00000298281:p.Glu1032Gln					PCF11_uc010rsu.1_Missense_Mutation_p.E1163Q	p.E1032Q	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3439	+			1032			Gly-rich.		A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3094G>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290395	0.40494	.	.	ENSG00000165494	ENST00000298281	T	0.24538	1.85	5.92	5.92	0.95590	.	0.097415	0.45361	D	0.000375	T	0.12987	0.0315	N	0.02539	-0.55	0.21604	N	0.999621	B	0.33073	0.396	B	0.32211	0.142	T	0.18808	-1.0325	9	.	.	.	-20.1361	20.3811	0.98930	0.0:0.0:1.0:0.0	.	1032	O94913	PCF11_HUMAN	Q	1032	ENSP00000298281:E1032Q	.	E	+	1	0	PCF11	82558119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.781000	0.68964	2.821000	0.97095	0.650000	0.86243	GAA		PASS	0.493	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		17	31	17	31	---	---	---	---
BIRC3	330	broad.mit.edu	37	11	102207664	102207664	+	Missense_Mutation	SNP	G	G	A	rs373651361		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:102207664G>A	ENST00000263464.3	+	9	4396	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	BIRC3_ENST00000532808.1_Missense_Mutation_p.R549Q	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	549					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R549Q(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		GAACAATTGCGGAGACTACAA	0.343			T	MALT1	MALT																																	uc001pgx.2				Dom	yes		11	11q22-q23	330	T	baculoviral IAP repeat-containing 3			L	MALT1		MALT		1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1645-1647)CGG>CAG		baculoviral IAP repeat-containing protein 3							120.0	103.0	108.0					11																	102207664		2203	4299	6502	SO:0001583	missense	330				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102207664G>A	L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1646G>A	11.37:g.102207664G>A	ENSP00000263464:p.Arg549Gln						p.R549Q	NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)	10	1868	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	549					Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	c.1646G>A	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652462	0.88056	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.04015	3.73;3.73	5.29	5.29	0.74685	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.00152	-1.1984	10	0.66056	D	0.02	.	19.1338	0.93418	0.0:0.0:1.0:0.0	.	549	Q13489	BIRC3_HUMAN	Q	549;549;317	ENSP00000263464:R549Q;ENSP00000432907:R549Q	ENSP00000263464:R549Q	R	+	2	0	BIRC3	101712874	1.000000	0.71417	0.811000	0.32455	0.745000	0.42441	7.807000	0.86032	2.752000	0.94435	0.655000	0.94253	CGG		PASS	0.343	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165		20	38	20	38	---	---	---	---
C11orf65	160140	broad.mit.edu	37	11	108253848	108253848	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:108253848G>A	ENST00000529391.1	-	8	851	c.842C>T	c.(841-843)tCa>tTa	p.S281L	C11orf65_ENST00000393084.1_Missense_Mutation_p.S281L|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	281								p.S281L(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTGCATCTTTGATATGTCTCC	0.308																																						uc001pkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)TCA>TTA		hypothetical protein LOC160140							149.0	151.0	150.0					11																	108253848		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108253848G>A	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.842C>T	11.37:g.108253848G>A	ENSP00000436400:p.Ser281Leu					C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_RNA	p.S281L	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	9	912	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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)	281					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.842C>T	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309707	0.23821	.	.	ENSG00000166323	ENST00000529391;ENST00000393084	.	.	.	4.31	1.3	0.21679	.	2.059570	0.02444	N	0.084893	T	0.35480	0.0933	L	0.46157	1.445	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.10800	-1.0614	9	0.33141	T	0.24	11.4015	3.1702	0.06550	0.2317:0.0:0.5608:0.2075	.	281	Q8NCR3	CK065_HUMAN	L	281	.	ENSP00000376799:S281L	S	-	2	0	C11orf65	107759058	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.563000	0.23547	0.303000	0.22785	0.655000	0.94253	TCA		PASS	0.308	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		4	113	4	113	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115099956	115099956	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:115099956T>A	ENST00000452722.3	-	5	618	c.598A>T	c.(598-600)Act>Tct	p.T200S	CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Missense_Mutation_p.T200S|CADM1_ENST00000537058.1_Missense_Mutation_p.T200S|CADM1_ENST00000542447.2_Missense_Mutation_p.T200S|CADM1_ENST00000536727.1_Missense_Mutation_p.T200S	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T200S(1)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CTGGTCACAGTGTACATGTCT	0.517																																						uc001ppi.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(598-600)ACT>TCT		immunoglobulin superfamily, member 4D isoform 1							121.0	91.0	101.0					11																	115099956		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115099956T>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.598A>T	11.37:g.115099956T>A	ENSP00000395359:p.Thr200Ser					CADM1_uc001ppf.3_Missense_Mutation_p.T200S|CADM1_uc001ppk.3_Missense_Mutation_p.T200S|CADM1_uc001ppj.3_Missense_Mutation_p.T200S|CADM1_uc001ppl.2_Missense_Mutation_p.T200S	p.T200S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	5	727	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	200			Ig-like C2-type 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000452722.3	37	c.598A>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.181808|4.181808	0.78677|0.78677	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000545380|ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000542450;ENST00000543540;ENST00000545094	.|T;T;T;T;T;T;T;T	.|0.79454	.|-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.17|6.17	6.17|6.17	0.99709|0.99709	.|CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.051705	.|0.85682	.|D	.|0.000000	T|T	0.81721|0.81721	0.4882|0.4882	L|L	0.53671|0.53671	1.685|1.685	0.51233|0.51233	D|D	0.999917|0.999917	.|D;D;D;B;D	.|0.63046	.|0.989;0.992;0.982;0.423;0.986	.|P;P;P;B;P	.|0.57244	.|0.719;0.782;0.816;0.378;0.727	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.34782	.|T	.|0.22	.|.	12.6398|12.6398	0.56702|0.56702	0.0:0.0:0.1377:0.8623|0.0:0.0:0.1377:0.8623	.|.	.|200;200;201;200;200	.|Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1	.|.;.;.;CADM1_HUMAN;.	L|S	198|200;200;200;200;159;200;53;53;167	.|ENSP00000439176:T200S;ENSP00000395359:T200S;ENSP00000439817:T200S;ENSP00000440322:T200S;ENSP00000329797:T200S;ENSP00000442001:T53S;ENSP00000439847:T53S;ENSP00000439696:T167S	.|ENSP00000329797:T200S	H|T	-|-	2|1	0|0	CADM1|CADM1	114605166|114605166	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.842000|5.842000	0.69417|0.69417	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CAC|ACT		PASS	0.517	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		19	36	19	36	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120811158	120811158	+	Missense_Mutation	SNP	C	C	A	rs374534079		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:120811158C>A	ENST00000527524.2	+	14	1866	c.1579C>A	c.(1579-1581)Cgc>Agc	p.R527S	GRIK4_ENST00000438375.2_Missense_Mutation_p.R527S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	527					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R527S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CATTCTTTACCGCGTTCATAT	0.398																																						uc001pxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1579-1581)CGC>AGC		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						88.0	90.0	89.0					11																	120811158		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120811158C>A	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1579C>A	11.37:g.120811158C>A	ENSP00000435648:p.Arg527Ser					GRIK4_uc009zav.1_Missense_Mutation_p.R527S|GRIK4_uc009zaw.1_Missense_Mutation_p.R527S|GRIK4_uc009zax.1_Missense_Mutation_p.R527S	p.R527S	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	14	1866	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	527			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1579C>A	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495286	0.64186	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13538	2.58;2.58	5.47	3.33	0.38152	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.29223	0.0727	L	0.42686	1.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.987;0.994	T	0.06954	-1.0798	10	0.87932	D	0	.	15.2449	0.73499	0.274:0.7259:0.0:0.0	.	527;527	A6H8K8;Q16099	.;GRIK4_HUMAN	S	527	ENSP00000435648:R527S;ENSP00000404063:R527S	ENSP00000404063:R527S	R	+	1	0	GRIK4	120316368	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.469000	0.35343	1.255000	0.44051	0.591000	0.81541	CGC		PASS	0.398	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		3	82	3	82	---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124267208	124267208	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr11:124267208G>A	ENST00000354597.3	-	1	56	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14F(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AATCCAGCAAGAATAAATTCA	0.383																																						uc010saj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(40-42)CTT>TTT		olfactory receptor, family 8, subfamily B,							21.0	29.0	26.0					11																	124267208		2063	4249	6312	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124267208G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.40C>T	11.37:g.124267208G>A	ENSP00000346611:p.Leu14Phe					OR8B2_uc001qab.3_RNA	p.L14F	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	40	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	14			Extracellular (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.40C>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	6.981	0.551101	0.13374	.	.	ENSG00000196661	ENST00000354597	T	0.00384	7.6	3.64	2.73	0.32206	.	0.121669	0.37577	N	0.002029	T	0.00328	0.0010	L	0.56199	1.76	0.27319	N	0.95709	B	0.33964	0.434	B	0.33339	0.162	T	0.38265	-0.9669	10	0.66056	D	0.02	.	11.4221	0.49987	0.0921:0.0:0.9079:0.0	.	14	Q8NGG8	OR8B3_HUMAN	F	14	ENSP00000346611:L14F	ENSP00000346611:L14F	L	-	1	0	OR8B3	123772418	0.183000	0.23186	0.519000	0.27824	0.156000	0.22039	0.403000	0.20982	1.101000	0.41535	0.637000	0.83480	CTT		PASS	0.383	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		10	20	10	20	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2676922	2676922	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:2676922C>G	ENST00000347598.4	+	13	1857	c.1857C>G	c.(1855-1857)ctC>ctG	p.L619L	CACNA1C_ENST00000399634.1_Silent_p.L619L|CACNA1C_ENST00000399638.1_Silent_p.L619L|CACNA1C_ENST00000399595.1_Silent_p.L619L|CACNA1C_ENST00000399641.1_Silent_p.L619L|CACNA1C_ENST00000402845.3_Silent_p.L619L|CACNA1C_ENST00000344100.3_Silent_p.L619L|CACNA1C_ENST00000406454.3_Silent_p.L619L|CACNA1C_ENST00000399597.1_Silent_p.L619L|CACNA1C_ENST00000399655.1_Silent_p.L619L|CACNA1C_ENST00000327702.7_Silent_p.L619L|CACNA1C_ENST00000399644.1_Silent_p.L619L|CACNA1C_ENST00000480911.1_Silent_p.L619L|CACNA1C_ENST00000399606.1_Silent_p.L619L|CACNA1C_ENST00000399637.1_Silent_p.L619L|CACNA1C_ENST00000399649.1_Silent_p.L619L|CACNA1C_ENST00000399617.1_Silent_p.L619L|CACNA1C_ENST00000335762.5_Silent_p.L644L|CACNA1C_ENST00000399601.1_Silent_p.L619L|CACNA1C_ENST00000399629.1_Silent_p.L619L|CACNA1C_ENST00000399621.1_Silent_p.L619L|CACNA1C_ENST00000399591.1_Silent_p.L619L|CACNA1C_ENST00000399603.1_Silent_p.L619L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	619					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L619L(3)|p.L649L(1)|p.L154L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTCCGTGCTCAGATGCGTCC	0.567																																						uc009zdu.1																			5	Substitution - coding silent(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(1855-1857)CTC>CTG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						34.0	37.0	36.0					12																	2676922		2174	4292	6466	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676922C>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1857C>G	12.37:g.2676922C>G						CACNA1C_uc009zdv.1_Silent_p.L616L|CACNA1C_uc001qkb.2_Silent_p.L619L|CACNA1C_uc001qkc.2_Silent_p.L619L|CACNA1C_uc001qke.2_Silent_p.L619L|CACNA1C_uc001qkf.2_Silent_p.L619L|CACNA1C_uc001qjz.2_Silent_p.L619L|CACNA1C_uc001qkd.2_Silent_p.L619L|CACNA1C_uc001qkg.2_Silent_p.L619L|CACNA1C_uc009zdw.1_Silent_p.L619L|CACNA1C_uc001qkh.2_Silent_p.L619L|CACNA1C_uc001qkl.2_Silent_p.L619L|CACNA1C_uc001qkn.2_Silent_p.L619L|CACNA1C_uc001qko.2_Silent_p.L619L|CACNA1C_uc001qkp.2_Silent_p.L619L|CACNA1C_uc001qkr.2_Silent_p.L619L|CACNA1C_uc001qku.2_Silent_p.L619L|CACNA1C_uc001qkq.2_Silent_p.L619L|CACNA1C_uc001qks.2_Silent_p.L619L|CACNA1C_uc001qkt.2_Silent_p.L619L|CACNA1C_uc001qka.1_Silent_p.L154L|CACNA1C_uc001qki.1_Silent_p.L355L|CACNA1C_uc001qkj.1_Silent_p.L355L|CACNA1C_uc001qkk.1_Silent_p.L355L|CACNA1C_uc001qkm.1_Silent_p.L355L	p.L619L	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	2170	+			619			II.|Helical; Name=S4 of repeat II; (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1857C>G	CCDS44788.1																																																																																				PASS	0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	26	3	26	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920788	4920788	+	Silent	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:4920788G>T	ENST00000280684.3	+	1	2447	c.1581G>T	c.(1579-1581)acG>acT	p.T527T	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Silent_p.T527T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	527					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.T527T(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)	GAATGCTCACGGAGGTCTGAC	0.557										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1579-1581)ACG>ACT		potassium voltage-gated channel, shaker-related							46.0	51.0	50.0					12																	4920788		2203	4299	6502	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920788G>T	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.1581G>T	12.37:g.4920788G>T		HNSCC(72;0.22)					p.T527T	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2447	+			527			PDZ-binding (Potential).			Silent	SNP	ENST00000280684.3	37	c.1581G>T	CCDS8534.1																																																																																				PASS	0.557	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		3	92	3	92	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6696654	6696654	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:6696654C>G	ENST00000357008.2	-	25	3938	c.3775G>C	c.(3775-3777)Gac>Cac	p.D1259H	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Missense_Mutation_p.D1259H|CHD4_ENST00000544484.1_Missense_Mutation_p.D1256H|CHD4_ENST00000544040.1_Missense_Mutation_p.D1252H|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1259					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.D1259H(2)		central_nervous_system(2)	2						TGGTTACGGTCTAGCAGCCGT	0.453																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(3775-3777)GAC>CAC		chromodomain helicase DNA binding protein 4							220.0	186.0	198.0					12																	6696654		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6696654C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3775G>C	12.37:g.6696654C>G	ENSP00000349508:p.Asp1259His					CHD4_uc001qpn.2_Missense_Mutation_p.D1252H|CHD4_uc001qpp.2_Missense_Mutation_p.D1256H	p.D1259H	NM_001273	NP_001264	Q14839	CHD4_HUMAN			25	3939	-			1259					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3775G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616532	0.66672	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.91792	-2.86;-2.91;-2.87;-2.91	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.96137	0.8741	M	0.73598	2.24	0.80722	D	1	D;P;D	0.89917	0.982;0.905;1.0	P;P;D	0.87578	0.869;0.695;0.998	D	0.96047	0.9028	10	0.87932	D	0	-10.5996	20.0212	0.97504	0.0:1.0:0.0:0.0	.	1259;1259;1252	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	1256;1252;1259;1259;1233	ENSP00000440392:D1256H;ENSP00000440542:D1252H;ENSP00000312419:D1259H;ENSP00000349508:D1259H	ENSP00000312419:D1259H	D	-	1	0	CHD4	6566915	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.461000	0.80834	2.735000	0.93741	0.561000	0.74099	GAC		PASS	0.453	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		12	182	12	182	---	---	---	---
FOXJ2	55810	broad.mit.edu	37	12	8203146	8203146	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:8203146C>T	ENST00000162391.3	+	10	2711	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	522					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.P522P(1)		autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CACAAGCTCCCCACCTCTACC	0.527																																						uc001qtu.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(1564-1566)CCC>CCT		forkhead box J2							124.0	114.0	118.0					12																	8203146		2203	4300	6503	SO:0001819	synonymous_variant	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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.chr12:8203146C>T	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1566C>T	12.37:g.8203146C>T							p.P522P	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	10	2651	+			522					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Silent	SNP	ENST00000162391.3	37	c.1566C>T	CCDS8587.1																																																																																				PASS	0.527	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		54	75	54	75	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546403	11546403	+	Silent	SNP	T	T	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:11546403T>G	ENST00000389362.4	-	3	644	c.609A>C	c.(607-609)ggA>ggC	p.G203G	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	203	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.G203G(1)|p.G182G(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTGGGGGTGGTCCTTGTGGCT	0.602																																						uc010shk.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(607-609)GGA>GGC		proline-rich protein BstNI subfamily 2							73.0	80.0	78.0					12																	11546403		2100	4161	6261	SO:0001819	synonymous_variant	653247							g.chr12:11546403T>G	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.609A>C	12.37:g.11546403T>G							p.G203G	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	644	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	c.609A>C	CCDS41757.2																																																																																				PASS	0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		88	207	88	207	---	---	---	---
PIK3C2G	5288	broad.mit.edu	37	12	18435469	18435469	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:18435469G>T	ENST00000266497.5	+	1	492	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PIK3C2G_ENST00000433979.1_Missense_Mutation_p.D152Y|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.D152Y|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.D152Y			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	152					chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)	p.D152Y(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CACAAGTTTGGATAAAATTAA	0.343																																						uc001rdt.2																			2	Substitution - Missense(2)		lung(2)	lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(454-456)GAT>TAT		phosphoinositide-3-kinase, class 2 gamma							52.0	54.0	53.0					12																	18435469		1809	4063	5872	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18435469G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.454G>T	12.37:g.18435469G>T	ENSP00000266497:p.Asp152Tyr					PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.D152Y|PIK3C2G_uc010sic.1_5'UTR	p.D152Y	NM_004570	NP_004561	O75747	P3C2G_HUMAN			2	570	+		Hepatocellular(102;0.194)	152					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.454G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051501	0.55218	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.65364	1.16;-0.14;-0.14;-0.15	4.79	2.96	0.34315	.	2.492040	0.01119	N	0.005748	T	0.54870	0.1885	L	0.29908	0.895	0.09310	N	1	P;P	0.41524	0.753;0.498	B;B	0.40444	0.329;0.177	T	0.50311	-0.8843	10	0.87932	D	0	-1.9207	6.8748	0.24141	0.0926:0.1757:0.7317:0.0	.	152;152	F5H369;O75747	.;P3C2G_HUMAN	Y	152	ENSP00000443850:D152Y;ENSP00000404845:D152Y;ENSP00000266497:D152Y;ENSP00000445381:D152Y	ENSP00000266497:D152Y	D	+	1	0	PIK3C2G	18326736	0.036000	0.19791	0.003000	0.11579	0.382000	0.30200	1.358000	0.34102	0.928000	0.37168	0.655000	0.94253	GAT		PASS	0.343	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		4	50	4	50	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19489488	19489488	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:19489488T>A	ENST00000299275.6	+	16	2185	c.2179T>A	c.(2179-2181)Tac>Aac	p.Y727N	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.Y485N|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y727N|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y646N|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y658N|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y727N|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y785N|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y830N|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y785N	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	727					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.Y830N(1)|p.Y727N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TAAGTTAGAATACGATGTAAC	0.343																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2179-2181)TAC>AAC		pleckstrin homology domain containing, family A							105.0	109.0	108.0					12																	19489488		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19489488T>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2179T>A	12.37:g.19489488T>A	ENSP00000299275:p.Tyr727Asn					PLEKHA5_uc010sie.1_Missense_Mutation_p.Y830N|PLEKHA5_uc001rea.2_Missense_Mutation_p.Y785N|PLEKHA5_uc009zin.2_Missense_Mutation_p.Y485N|PLEKHA5_uc010sif.1_Missense_Mutation_p.Y658N|PLEKHA5_uc010sig.1_Missense_Mutation_p.Y646N|PLEKHA5_uc010sih.1_Missense_Mutation_p.Y619N|PLEKHA5_uc001rec.1_Missense_Mutation_p.Y473N|PLEKHA5_uc009zio.2_Missense_Mutation_p.Y49N	p.Y727N	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			16	2265	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		727					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2179T>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	T	8.640	0.895823	0.17686	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	4.78	4.78	0.61160	.	0.329031	0.32473	N	0.006048	T	0.17831	0.0428	N	0.17082	0.46	0.22389	N	0.999141	B;D;P;D;D;P;P;D	0.69078	0.041;0.963;0.938;0.964;0.997;0.925;0.93;0.963	B;P;P;P;D;P;B;P	0.65010	0.078;0.723;0.532;0.532;0.931;0.526;0.379;0.723	T	0.10660	-1.0620	10	0.08179	T	0.78	-9.1131	8.6937	0.34282	0.0:0.0872:0.0:0.9128	.	727;646;658;830;727;830;727;785	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	N	727;785;727;831;830;727;485;785;658;646;619;64	ENSP00000325155:Y727N;ENSP00000347560:Y785N;ENSP00000352104:Y727N;ENSP00000404296:Y830N;ENSP00000299275:Y727N;ENSP00000440611:Y485N;ENSP00000439673:Y785N;ENSP00000400411:Y658N;ENSP00000439837:Y646N;ENSP00000440371:Y619N;ENSP00000443553:Y64N	ENSP00000299275:Y727N	Y	+	1	0	PLEKHA5	19380755	0.277000	0.24220	0.995000	0.50966	0.988000	0.76386	1.968000	0.40500	1.789000	0.52484	0.383000	0.25322	TAC		PASS	0.343	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		23	54	23	54	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48528749	48528749	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:48528749C>G	ENST00000312352.7	+	9	810	c.771C>G	c.(769-771)ctC>ctG	p.L257L	PFKM_ENST00000359794.5_Silent_p.L257L|PFKM_ENST00000547587.1_Silent_p.L257L|PFKM_ENST00000395233.2_Silent_p.L257L|PFKM_ENST00000340802.6_Silent_p.L328L|PFKM_ENST00000551804.1_Silent_p.L257L	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	257	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L328L(1)|p.L257L(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCTCGTCTCAACATCATCA	0.463																																						uc001rrc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(769-771)CTC>CTG		phosphofructokinase, muscle							121.0	119.0	119.0					12																	48528749		2203	4300	6503	SO:0001819	synonymous_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48528749C>G	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.771C>G	12.37:g.48528749C>G						PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Silent_p.L328L|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Silent_p.L257L|PFKM_uc001rrg.1_Silent_p.L257L	p.L257L	NM_000289	NP_000280	P08237	K6PF_HUMAN			9	941	+			257					J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	c.771C>G	CCDS8760.1																																																																																				PASS	0.463	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		44	67	44	67	---	---	---	---
H1FNT	341567	broad.mit.edu	37	12	48723390	48723390	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:48723390G>C	ENST00000335017.1	+	1	628	c.316G>C	c.(316-318)Gcc>Ccc	p.A106P		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	106					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.A106P(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCAGGCCAAGGCCACGCTCCT	0.682																																						uc001rrm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(316-318)GCC>CCC		H1 histone family, member N, testis-specific							15.0	19.0	17.0					12																	48723390		2199	4292	6491	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723390G>C	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.316G>C	12.37:g.48723390G>C	ENSP00000334805:p.Ala106Pro						p.A106P	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			1	628	+			106					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.316G>C	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436318	0.83885	.	.	ENSG00000187166	ENST00000335017	T	0.19806	2.12	4.69	1.82	0.25136	.	.	.	.	.	T	0.11965	0.0291	N	0.22421	0.69	0.25391	N	0.988522	P	0.44578	0.838	B	0.37550	0.253	T	0.14420	-1.0473	9	0.62326	D	0.03	-1.6763	5.6749	0.17743	0.1764:0.0:0.6674:0.1562	.	106	Q75WM6	H1FNT_HUMAN	P	106	ENSP00000334805:A106P	ENSP00000334805:A106P	A	+	1	0	H1FNT	47009657	1.000000	0.71417	0.011000	0.14972	0.245000	0.25701	2.979000	0.49313	0.074000	0.16767	0.650000	0.86243	GCC		PASS	0.682	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		3	32	3	32	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49427912	49427912	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:49427912C>T	ENST00000301067.7	-	38	10677	c.10678G>A	c.(10678-10680)Gat>Aat	p.D3560N	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3560	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.D3560N(1)|p.D3290N(1)									TTCTCAGCATCAGCTTCTGGG	0.552																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(10678-10680)GAT>AAT		myeloid/lymphoid or mixed-lineage leukemia 2							69.0	66.0	67.0					12																	49427912		1996	4191	6187	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427912C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10678G>A	12.37:g.49427912C>T	ENSP00000301067:p.Asp3560Asn	HNSCC(34;0.089)					p.D3560N	NM_003482	NP_003473	O14686	MLL2_HUMAN			38	10678	-			3560			Gln-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10678G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687564	0.48097	.	.	ENSG00000167548	ENST00000301067	T	0.42131	0.98	5.38	5.38	0.77491	.	0.000000	0.38164	N	0.001795	T	0.58148	0.2102	L	0.41824	1.3	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.59643	-0.7416	10	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	3560	O14686	MLL2_HUMAN	N	3560	ENSP00000301067:D3560N	ENSP00000301067:D3560N	D	-	1	0	MLL2	47714179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	GAT		PASS	0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	76	11	76	---	---	---	---
KRT81	3887	broad.mit.edu	37	12	52680957	52680957	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:52680957C>G	ENST00000327741.5	-	7	1244	c.1176G>C	c.(1174-1176)gtG>gtC	p.V392V	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	392	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V392V(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGAGTTCATCACCTCCTGGT	0.657																																						uc001sab.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1174-1176)GTG>GTC		keratin, hair, basic, 1							65.0	62.0	63.0					12																	52680957		2203	4293	6496	SO:0001819	synonymous_variant	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52680957C>G	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1176G>C	12.37:g.52680957C>G						KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Silent_p.V11V	p.V392V	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1226	-			392			Rod.|Coil 2.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	c.1176G>C	CCDS31805.1																																																																																				PASS	0.657	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		6	133	6	133	---	---	---	---
KRT81	3887	broad.mit.edu	37	12	52681494	52681494	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:52681494C>A	ENST00000327741.5	-	6	980	c.912G>T	c.(910-912)atG>atT	p.M304I	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	304	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.M304I(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGTGGCCTTCATCTCCTCAC	0.572																																						uc001sab.2																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)ATG>ATT		keratin, hair, basic, 1							74.0	62.0	66.0					12																	52681494		2203	4297	6500	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52681494C>A	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.912G>T	12.37:g.52681494C>A	ENSP00000369349:p.Met304Ile					KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_Intron	p.M304I	NM_002281	NP_002272	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	962	-			304			Rod.|Coil 2.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.912G>T	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293088	0.40594	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	T	0.76060	-0.99	4.4	-4.94	0.03057	Filament (1);	0.483859	0.17757	N	0.163032	T	0.49012	0.1532	N	0.16098	0.37	0.26481	N	0.975111	B	0.12013	0.005	B	0.19666	0.026	T	0.25606	-1.0127	10	0.45353	T	0.12	.	6.0016	0.19523	0.0:0.3835:0.2936:0.3229	.	304	Q14533	KRT81_HUMAN	I	304	ENSP00000369349:M304I	ENSP00000369349:M304I	M	-	3	0	KRT81	50967761	0.154000	0.22792	0.972000	0.41901	0.990000	0.78478	-0.184000	0.09698	-0.979000	0.03529	0.561000	0.74099	ATG		PASS	0.572	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		4	55	4	55	---	---	---	---
HOXC10	3226	broad.mit.edu	37	12	54379211	54379211	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:54379211G>T	ENST00000303460.4	+	1	242	c.168G>T	c.(166-168)agG>agT	p.R56S	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	56					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R56S(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						TCTCCAAGAGGGACGAGGGCA	0.647																																						uc001sen.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(166-168)AGG>AGT		homeobox C10							28.0	33.0	31.0					12																	54379211		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379211G>T		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.168G>T	12.37:g.54379211G>T	ENSP00000307321:p.Arg56Ser						p.R56S	NM_017409	NP_059105	Q9NYD6	HXC10_HUMAN			1	266	+			56					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.168G>T	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.014920	0.54468	.	.	ENSG00000180818	ENST00000303460	T	0.36699	1.24	3.8	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.86651	2.83	0.41780	D	0.98981	P	0.48350	0.909	P	0.60789	0.879	T	0.60424	-0.7266	10	0.54805	T	0.06	.	7.6577	0.28386	0.1855:0.0:0.8145:0.0	.	56	Q9NYD6	HXC10_HUMAN	S	56	ENSP00000307321:R56S	ENSP00000307321:R56S	R	+	3	2	HOXC10	52665478	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.512000	0.22755	2.152000	0.67230	0.499000	0.49734	AGG		PASS	0.647	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			25	31	25	31	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54903687	54903688	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:54903687_54903688GG>TT	ENST00000293373.6	+	7	732_733	c.653_654GG>TT	c.(652-654)gGG>gTT	p.G218V	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.G168V|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	218					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.G218V(2)|p.G218G(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAAACCAGGGGGCTGAGCAGT	0.515																																						uc001sgc.3																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|central_nervous_system(1)	4						c.(652-654)GGG>GTG|c.(652-654)GGG>GGT		NCK-associated protein 1-like																																				SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54903687G>T|g.chr12:54903688G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	Exception_encountered	12.37:g.54903687_54903688delinsTT	ENSP00000293373:p.Gly218Val					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.G168V|NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Silent_p.G168G	p.G218V|p.G218G	NM_005337	NP_005328	P55160	NCKPL_HUMAN			7	732|733	+			218					B4DUT5|Q52LW0	Missense_Mutation|Silent	SNP	ENST00000293373.6	37	c.653G>T|c.654G>T	CCDS31813.1																																																																																				PASS	0.515	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		93|91	123	91	123	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54964134	54964134	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:54964134G>T	ENST00000243052.3	+	6	1023	c.587G>T	c.(586-588)cGc>cTc	p.R196L	PDE1B_ENST00000550620.1_Missense_Mutation_p.R176L|PDE1B_ENST00000538346.1_Missense_Mutation_p.R155L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	196					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.R196L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTCATCAGCCGCTTCAAGGTT	0.502																																						uc001sgd.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(586-588)CGC>CTC		phosphodiesterase 1B isoform 1							145.0	124.0	131.0					12																	54964134		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54964134G>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.587G>T	12.37:g.54964134G>T	ENSP00000243052:p.Arg196Leu					PDE1B_uc010soz.1_Missense_Mutation_p.R59L|PDE1B_uc010spa.1_Missense_Mutation_p.R155L|PDE1B_uc001sgf.2_Missense_Mutation_p.R59L|PDE1B_uc001sge.2_Missense_Mutation_p.R176L|PDE1B_uc009znq.2_5'UTR	p.R196L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			6	753	+			196					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.587G>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322748	0.60634	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70282	-0.47;-0.45;-0.46	3.6	3.6	0.41247	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.64402	D	0.000001	T	0.70718	0.3256	M	0.71871	2.18	0.58432	D	0.999999	B;B	0.18461	0.028;0.026	B;B	0.28232	0.067;0.087	T	0.73949	-0.3821	10	0.72032	D	0.01	.	13.5326	0.61631	0.0:0.0:1.0:0.0	.	176;196	Q01064-2;Q01064	.;PDE1B_HUMAN	L	196;155;176	ENSP00000243052:R196L;ENSP00000442559:R155L;ENSP00000448519:R176L	ENSP00000243052:R196L	R	+	2	0	PDE1B	53250401	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.417000	0.97391	2.316000	0.78162	0.561000	0.74099	CGC		PASS	0.502	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			50	78	50	78	---	---	---	---
TESPA1	9840	broad.mit.edu	37	12	55356572	55356572	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:55356572C>T	ENST00000449076.1	-	9	1242	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	TESPA1_ENST00000524622.1_Silent_p.Q232Q|TESPA1_ENST00000531122.1_Silent_p.Q232Q|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Silent_p.Q370Q|TESPA1_ENST00000532804.1_Silent_p.Q232Q	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	370					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.Q232Q(1)|p.Q370Q(1)									TGGACATCCTCTGCTGTGTTT	0.522																																						uc001sgn.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1108-1110)CAG>CAA		hypothetical protein LOC9840							63.0	63.0	63.0					12																	55356572		1996	4168	6164	SO:0001819	synonymous_variant	9840							g.chr12:55356572C>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1110G>A	12.37:g.55356572C>T						KIAA0748_uc001sgl.3_Silent_p.Q232Q|KIAA0748_uc001sgm.3_Silent_p.Q117Q|KIAA0748_uc010spb.1_Silent_p.Q117Q|KIAA0748_uc010spc.1_Silent_p.Q232Q|KIAA0748_uc010spd.1_Silent_p.Q370Q|KIAA0748_uc001sgo.3_RNA	p.Q370Q	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			9	1220	-			370					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	ENST00000449076.1	37	c.1110G>A	CCDS44913.1																																																																																				PASS	0.522	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		5	64	5	64	---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75785038	75785038	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:75785038G>A	ENST00000550916.1	+	1	189	c.142G>A	c.(142-144)Gag>Aag	p.E48K	GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000378689.2_Missense_Mutation_p.E48K|GLIPR1L2_ENST00000441218.1_5'Flank|CAPS2_ENST00000442339.2_5'Flank|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.E48K|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.E48K|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.E48K	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	48						integral component of membrane (GO:0016021)		p.E48K(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TTTGCCAGACGAGGAGGACGT	0.562											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sxr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(142-144)GAG>AAG		GLI pathogenesis-related 1 like 2							115.0	96.0	103.0					12																	75785038		2203	4300	6503	SO:0001583	missense	144321					integral to membrane		g.chr12:75785038G>A	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.142G>A	12.37:g.75785038G>A	ENSP00000448248:p.Glu48Lys		OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1163	CAPS2_uc001sxm.3_5'Flank|CAPS2_uc009zsa.2_5'Flank|GLIPR1L2_uc001sxp.1_Missense_Mutation_p.E48K|GLIPR1L2_uc001sxq.1_5'UTR	p.E48K	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			1	150	+			48					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.142G>A	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199521	0.58126	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378689;ENST00000320460;ENST00000547164	T;T;T;T;T	0.08896	3.04;3.04;3.04;3.04;3.04	3.77	3.77	0.43336	CAP domain (2);	0.296038	0.30723	N	0.009004	T	0.13114	0.0318	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.76071	0.987;0.844	T	0.08046	-1.0741	10	0.06757	T	0.87	.	11.4027	0.49878	0.0:0.0:1.0:0.0	.	48;48	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	K	48	ENSP00000448248:E48K;ENSP00000398328:E48K;ENSP00000367960:E48K;ENSP00000317385:E48K;ENSP00000447980:E48K	ENSP00000317385:E48K	E	+	1	0	GLIPR1L2	74071305	0.982000	0.34865	0.864000	0.33941	0.501000	0.33797	2.246000	0.43142	2.400000	0.81607	0.650000	0.86243	GAG		PASS	0.562	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		4	103	4	103	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78225318	78225318	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:78225318T>A	ENST00000397909.2	+	1	250	c.77T>A	c.(76-78)aTa>aAa	p.I26K	NAV3_ENST00000266692.7_Missense_Mutation_p.I26K|NAV3_ENST00000228327.6_Missense_Mutation_p.I26K|NAV3_ENST00000536525.2_Missense_Mutation_p.I26K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	26						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.I26K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTCTTCCGATACCAAATCTT	0.458										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(76-78)ATA>AAA		neuron navigator 3							145.0	141.0	142.0					12																	78225318		1917	4131	6048	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78225318T>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.77T>A	12.37:g.78225318T>A	ENSP00000381007:p.Ile26Lys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.I26K	p.I26K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			1	250	+			26					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.77T>A		.	.	.	.	.	.	.	.	.	.	T	20.9	4.058585	0.76074	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.69435	-0.4;1.22;1.22;1.22;1.11	5.54	5.54	0.83059	Calponin homology domain (1);	.	.	.	.	T	0.74298	0.3698	L	0.32530	0.975	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.80764	0.986;0.994	T	0.77563	-0.2541	9	0.87932	D	0	-14.088	15.681	0.77367	0.0:0.0:0.0:1.0	.	26;26	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	K	26	ENSP00000446628:I26K;ENSP00000446132:I26K;ENSP00000381007:I26K;ENSP00000228327:I26K;ENSP00000266692:I26K	ENSP00000228327:I26K	I	+	2	0	NAV3	76749449	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.831000	0.55776	2.113000	0.64589	0.533000	0.62120	ATA		PASS	0.458	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		98	127	98	127	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78594313	78594313	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:78594313A>C	ENST00000397909.2	+	38	6949	c.6776A>C	c.(6775-6777)gAt>gCt	p.D2259A	NAV3_ENST00000266692.7_Missense_Mutation_p.D2060A|NAV3_ENST00000228327.6_Missense_Mutation_p.D2237A|NAV3_ENST00000536525.2_Missense_Mutation_p.D2237A|NAV3_ENST00000541270.1_Missense_Mutation_p.D89A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2259						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.D2237A(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGTTCATGGATCTCTGGAAC	0.338										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6775-6777)GAT>GCT		neuron navigator 3							111.0	102.0	105.0					12																	78594313		1828	4079	5907	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78594313A>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6776A>C	12.37:g.78594313A>C	ENSP00000381007:p.Asp2259Ala	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.D2237A|NAV3_uc010sub.1_Missense_Mutation_p.D1716A|NAV3_uc009zsf.2_Missense_Mutation_p.D1068A	p.D2259A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			38	6949	+			2259					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6776A>C		.	.	.	.	.	.	.	.	.	.	A	26.5	4.740805	0.89573	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	T;T;T;T;T	0.50813	1.44;1.45;1.44;1.41;0.73	5.29	5.29	0.74685	.	0.000000	0.41097	U	0.000945	T	0.72898	0.3518	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.87578	0.967;0.996;0.997;0.998	T	0.78846	-0.2043	10	0.87932	D	0	-18.685	15.5176	0.75837	1.0:0.0:0.0:0.0	.	2237;2060;2259;2237	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	A	2237;2259;2237;2060;89	ENSP00000446132:D2237A;ENSP00000381007:D2259A;ENSP00000228327:D2237A;ENSP00000266692:D2060A;ENSP00000444918:D89A	ENSP00000228327:D2237A	D	+	2	0	NAV3	77118444	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.274000	0.95731	2.132000	0.65825	0.533000	0.62120	GAT		PASS	0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		49	77	49	77	---	---	---	---
DCN	1634	broad.mit.edu	37	12	91552164	91552164	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:91552164G>A	ENST00000052754.5	-	4	948	c.447C>T	c.(445-447)ccC>ccT	p.P149P	DCN_ENST00000303320.3_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000552962.1_Silent_p.P149P|DCN_ENST00000456569.2_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000393155.1_Silent_p.P149P|DCN_ENST00000420120.2_Intron|DCN_ENST00000228329.5_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	149					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.P149P(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GAAGAGTTTTGGGCATTTTTT	0.418																																						uc001tbs.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(445-447)CCC>CCT		decorin isoform a preproprotein							157.0	149.0	152.0					12																	91552164		2203	4300	6503	SO:0001819	synonymous_variant	1634				organ morphogenesis	extracellular space		g.chr12:91552164G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.447C>T	12.37:g.91552164G>A						DCN_uc001tbo.2_Intron|DCN_uc001tbp.2_Intron|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Silent_p.P149P|DCN_uc001tbu.2_Silent_p.P149P	p.P149P	NM_133503	NP_598010	P07585	PGS2_HUMAN			3	541	-			149			LRR 4.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	c.447C>T	CCDS9039.1																																																																																				PASS	0.418	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		76	97	76	97	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94620959	94620959	+	Missense_Mutation	SNP	G	G	C	rs143304608		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:94620959G>C	ENST00000258526.4	+	9	2177	c.1928G>C	c.(1927-1929)gGa>gCa	p.G643A		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	643					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.G643A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGACATCAGGAGGAGGAAGA	0.468																																						uc001tdc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1927-1929)GGA>GCA		plexin C1 precursor							173.0	158.0	163.0					12																	94620959		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94620959G>C	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.1928G>C	12.37:g.94620959G>C	ENSP00000258526:p.Gly643Ala						p.G643A	NM_005761	NP_005752	O60486	PLXC1_HUMAN			9	2177	+			643			Extracellular (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.1928G>C	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011314	0.35511	.	.	ENSG00000136040	ENST00000258526	T	0.06608	3.28	5.21	3.25	0.37280	.	10.242500	0.00166	N	0.000002	T	0.09069	0.0224	M	0.62723	1.935	0.38694	D	0.952821	B	0.22909	0.077	B	0.22880	0.042	T	0.56208	-0.8017	10	0.07482	T	0.82	.	6.8429	0.23973	0.0951:0.177:0.728:0.0	.	643	O60486	PLXC1_HUMAN	A	643	ENSP00000258526:G643A	ENSP00000258526:G643A	G	+	2	0	PLXNC1	93145090	0.999000	0.42202	0.850000	0.33497	0.018000	0.09664	1.774000	0.38573	1.338000	0.45544	0.650000	0.86243	GGA		PASS	0.468	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			4	90	4	90	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94691141	94691141	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:94691141G>A	ENST00000258526.4	+	26	4265	c.4016G>A	c.(4015-4017)cGa>cAa	p.R1339Q	PLXNC1_ENST00000547057.1_Missense_Mutation_p.R386Q|PLXNC1_ENST00000545312.1_Missense_Mutation_p.R78Q	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1339					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R1339Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAGAGACATCGAGGGAAGCAC	0.463																																						uc001tdc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4015-4017)CGA>CAA		plexin C1 precursor							108.0	95.0	99.0					12																	94691141		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94691141G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.4016G>A	12.37:g.94691141G>A	ENSP00000258526:p.Arg1339Gln					PLXNC1_uc010sut.1_Missense_Mutation_p.R386Q|PLXNC1_uc009zsv.2_Missense_Mutation_p.R78Q	p.R1339Q	NM_005761	NP_005752	O60486	PLXC1_HUMAN			26	4265	+			1339			Cytoplasmic (Potential).		Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.4016G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567859	0.45798	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11385	2.78;2.78;2.78	5.03	4.13	0.48395	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.201429	0.43747	D	0.000531	T	0.04003	0.0112	N	0.05124	-0.11	0.37532	D	0.917946	B;B	0.30511	0.007;0.282	B;B	0.22386	0.002;0.039	T	0.40421	-0.9564	10	0.32370	T	0.25	.	4.753	0.13070	0.3128:0.0:0.6872:0.0	.	386;1339	B4DHQ7;O60486	.;PLXC1_HUMAN	Q	1339;386;78	ENSP00000258526:R1339Q;ENSP00000446720:R386Q;ENSP00000439225:R78Q	ENSP00000258526:R1339Q	R	+	2	0	PLXNC1	93215272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.822000	0.62686	2.337000	0.79520	0.462000	0.41574	CGA		PASS	0.463	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			15	23	15	23	---	---	---	---
ALDH2	217	broad.mit.edu	37	12	112247365	112247365	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:112247365C>G	ENST00000261733.2	+	13	1601	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	ALDH2_ENST00000416293.3_Missense_Mutation_p.Q467E	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	514					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.Q514E(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CAAAGTGCCTCAGAAGAACTC	0.478			T	HMGA2	leiomyoma																																	uc001tst.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1540-1542)CAG>GAG		mitochondrial aldehyde dehydrogenase 2	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						100.0	89.0	93.0					12																	112247365		2203	4300	6503	SO:0001583	missense	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase|electron carrier activity	g.chr12:112247365C>G	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1540C>G	12.37:g.112247365C>G	ENSP00000261733:p.Gln514Glu					ALDH2_uc010syi.1_Missense_Mutation_p.Q467E|ALDH2_uc009zvy.2_Missense_Mutation_p.Q438E	p.Q514E	NM_000690	NP_000681	P05091	ALDH2_HUMAN			13	1981	+			514					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.1540C>G	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572213	0.45798	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.76186	-1.0;-0.86	5.96	5.96	0.96718	Aldehyde/histidinol dehydrogenase (1);	0.050737	0.85682	D	0.000000	T	0.56978	0.2022	N	0.03016	-0.435	0.58432	D	0.999994	B;P;B	0.50272	0.002;0.933;0.001	B;B;B	0.43155	0.008;0.41;0.002	T	0.62572	-0.6826	10	0.28530	T	0.3	.	20.0067	0.97435	0.0:1.0:0.0:0.0	.	467;438;514	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	E	467;514;438;374	ENSP00000403349:Q467E;ENSP00000261733:Q514E	ENSP00000261733:Q514E	Q	+	1	0	ALDH2	110731748	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.721000	0.68477	2.827000	0.97445	0.655000	0.94253	CAG		PASS	0.478	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		36	49	36	49	---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113346551	113346551	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:113346551G>C	ENST00000202917.5	+	2	654	c.391G>C	c.(391-393)Gcg>Ccg	p.A131P	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000553185.1_Missense_Mutation_p.A131P|OAS1_ENST00000452357.2_Missense_Mutation_p.A131P|OAS1_ENST00000445409.2_Missense_Mutation_p.A131P|OAS1_ENST00000551241.1_Missense_Mutation_p.A131P	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	131					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.A131P(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAACCCCCGTGCGCTCAGCTT	0.572																																						uc001tud.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(391-393)GCG>CCG		2',5'-oligoadenylate synthetase 1 isoform 1							81.0	76.0	78.0					12																	113346551		2203	4300	6503	SO:0001583	missense	4938				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113346551G>C	X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.391G>C	12.37:g.113346551G>C	ENSP00000202917:p.Ala131Pro					OAS1_uc010syn.1_Missense_Mutation_p.A130P|OAS1_uc010syo.1_Missense_Mutation_p.A130P|OAS1_uc001tub.2_Missense_Mutation_p.A131P|OAS1_uc001tuc.2_Missense_Mutation_p.A131P|OAS1_uc009zwf.2_Missense_Mutation_p.A130P	p.A131P	NM_016816	NP_058132	P00973	OAS1_HUMAN			2	497	+			131			Necessary for binding to dsRNA.		A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	c.391G>C	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833482	0.50951	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000549820;ENST00000551241;ENST00000377508;ENST00000553185;ENST00000550689	T;T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97;2.97	4.31	1.23	0.21249	.	2.140360	0.02263	N	0.067735	T	0.36413	0.0966	M	0.83312	2.635	0.09310	N	1	D;P;D;D;D;P	0.71674	0.987;0.902;0.998;0.983;0.978;0.881	D;P;D;P;P;P	0.64144	0.922;0.788;0.91;0.9;0.84;0.683	T	0.11470	-1.0586	10	0.72032	D	0.01	-4.8818	10.0888	0.42434	0.0:0.0:0.4747:0.5253	.	131;131;131;131;131;131	B4DWE7;E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;.;OAS1_HUMAN;.;.	P	131;131;131;131;131;131;131;127	ENSP00000202917:A131P;ENSP00000388001:A131P;ENSP00000415721:A131P;ENSP00000448790:A131P;ENSP00000448001:A131P;ENSP00000448348:A127P	ENSP00000202917:A131P	A	+	1	0	OAS1	111830934	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.899000	0.28417	0.140000	0.18849	0.455000	0.32223	GCG		PASS	0.572	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2			45	60	45	60	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113544952	113544952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr12:113544952G>C	ENST00000261729.5	-	16	1922	c.1607C>G	c.(1606-1608)tCa>tGa	p.S536*	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.S536*|RASAL1_ENST00000546530.1_Nonsense_Mutation_p.S537*|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.S536*			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	536					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.S536*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTCACACGTGAGACACACTG	0.607																																						uc001tum.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1606-1608)TCA>TGA		RAS protein activator like 1							90.0	79.0	82.0					12																	113544952		2203	4300	6503	SO:0001587	stop_gained	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113544952G>C	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1607C>G	12.37:g.113544952G>C	ENSP00000261729:p.Ser536*					RASAL1_uc010syp.1_Nonsense_Mutation_p.S536*|RASAL1_uc001tul.2_Nonsense_Mutation_p.S536*|RASAL1_uc001tun.1_Nonsense_Mutation_p.S537*|RASAL1_uc010syq.1_Nonsense_Mutation_p.S536*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.S536*|RASAL1_uc010syr.1_3'UTR	p.S536*	NM_004658	NP_004649	O95294	RASL1_HUMAN			16	1900	-			536					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Nonsense_Mutation	SNP	ENST00000261729.5	37	c.1607C>G	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261766	0.80358	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	.	.	.	4.94	4.04	0.47022	.	0.257191	0.34386	N	0.004013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	4.3505	0.11153	0.0868:0.1517:0.6054:0.1561	.	.	.	.	X	537;536;536;536	.	ENSP00000261729:S536X	S	-	2	0	RASAL1	112029335	0.239000	0.23836	0.001000	0.08648	0.014000	0.08584	2.364000	0.44187	1.052000	0.40392	0.561000	0.74099	TCA		PASS	0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		4	63	4	63	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26129135	26129135	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr13:26129135G>A	ENST00000381655.2	+	13	1334	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D358N	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	358					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.D398N(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCAGGACACAGATATGTATTA	0.388																																						uc001uqk.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1192-1194)GAT>AAT		ATPase, aminophospholipid transporter-like,							89.0	85.0	86.0					13																	26129135		1822	4090	5912	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26129135G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1192G>A	13.37:g.26129135G>A	ENSP00000371070:p.Asp398Asn					ATP8A2_uc010tdi.1_Missense_Mutation_p.D358N|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.D358N	p.D398N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	13	1334	+		Breast(139;0.0201)|Lung SC(185;0.0225)	358			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1192G>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002756	0.93287	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.71934	-0.61;-0.61	5.08	5.08	0.68730	.	0.101217	0.64402	N	0.000002	T	0.79191	0.4404	L	0.41710	1.295	0.58432	D	0.999999	B;D;P	0.65815	0.386;0.995;0.914	B;D;P	0.68621	0.175;0.959;0.754	T	0.81046	-0.1110	10	0.87932	D	0	.	18.6642	0.91483	0.0:0.0:1.0:0.0	.	358;358;358	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	N	398;358;178	ENSP00000371070:D398N;ENSP00000255283:D358N	ENSP00000255283:D358N	D	+	1	0	ATP8A2	25027135	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.493000	0.97960	2.656000	0.90262	0.637000	0.83480	GAT		PASS	0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		4	96	4	96	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70514251	70514251	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr13:70514251G>A	ENST00000377844.4	-	4	1694	c.935C>T	c.(934-936)tCt>tTt	p.S312F	KLHL1_ENST00000545028.1_Missense_Mutation_p.S119F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	312					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.S312F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TAAACAGTTAGATGGATGCAA	0.468																																						uc001vip.2																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)TCT>TTT		kelch-like 1 protein							90.0	79.0	83.0					13																	70514251		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514251G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.935C>T	13.37:g.70514251G>A	ENSP00000367075:p.Ser312Phe					KLHL1_uc010thm.1_Missense_Mutation_p.S251F	p.S312F	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1729	-		Breast(118;0.000162)	312					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.935C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939246	0.92526	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.73469	-0.75;-0.51	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000004	D	0.91754	0.7392	H	0.97240	3.965	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	D	0.94171	0.7423	10	0.87932	D	0	.	19.7664	0.96346	0.0:0.0:1.0:0.0	.	312;312	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	312;119	ENSP00000367075:S312F;ENSP00000439602:S119F	ENSP00000367075:S312F	S	-	2	0	KLHL1	69412252	1.000000	0.71417	0.874000	0.34290	0.994000	0.84299	9.869000	0.99810	2.671000	0.90904	0.557000	0.71058	TCT		PASS	0.468	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		9	27	9	27	---	---	---	---
GAS6	2621	broad.mit.edu	37	13	114541067	114541067	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr13:114541067G>C	ENST00000327773.6	-	6	710	c.564C>G	c.(562-564)ctC>ctG	p.L188L	GAS6_ENST00000357389.3_Silent_p.L188L|GAS6_ENST00000450766.1_5'Flank|GAS6_ENST00000355761.4_Silent_p.L134L|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	188	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)	p.L188L(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CATCAGAGGAGAGCTCGAAGC	0.592																																						uc001vud.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)	4						c.(562-564)CTC>CTG		growth arrest-specific 6 isoform 1 precursor							94.0	88.0	90.0					13																	114541067		2203	4297	6500	SO:0001819	synonymous_variant	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114541067G>C		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.564C>G	13.37:g.114541067G>C						GAS6_uc001vuf.2_5'Flank	p.L188L	NM_000820	NP_000811	Q14393	GAS6_HUMAN			6	717	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	188			EGF-like 2; calcium-binding (Potential).		B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	ENST00000327773.6	37	c.564C>G	CCDS45072.1																																																																																				PASS	0.592	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		14	111	14	111	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20216323	20216323	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:20216323C>G	ENST00000331723.1	+	1	737	c.737C>G	c.(736-738)aCa>aGa	p.T246R		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T246R(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCACCTGACAGTGGTCAGC	0.453																																						uc010tkt.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(736-738)ACA>AGA		olfactory receptor, family 4, subfamily Q,							170.0	162.0	165.0					14																	20216323		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216323C>G	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.737C>G	14.37:g.20216323C>G	ENSP00000330049:p.Thr246Arg						p.T246R	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	737	+	all_cancers(95;0.00108)		246			Helical; Name=6; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.737C>G	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.811	0.935297	0.18206	.	.	ENSG00000182652	ENST00000331723	T	0.39056	1.1	4.1	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.363325	0.19452	U	0.113905	T	0.66247	0.2770	M	0.92833	3.35	0.09310	N	1	D	0.57899	0.981	D	0.69142	0.962	T	0.56601	-0.7952	10	0.87932	D	0	.	7.996	0.30269	0.0:0.7042:0.0:0.2958	.	246	Q8NH05	OR4Q3_HUMAN	R	246	ENSP00000330049:T246R	ENSP00000330049:T246R	T	+	2	0	OR4Q3	19286163	0.000000	0.05858	0.985000	0.45067	0.101000	0.19017	0.363000	0.20301	0.393000	0.25203	-0.360000	0.07572	ACA		PASS	0.453	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			44	76	44	76	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24792232	24792232	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:24792232G>C	ENST00000310677.4	-	19	2333	c.2220C>G	c.(2218-2220)ttC>ttG	p.F740L	ADCY4_ENST00000554068.2_Missense_Mutation_p.F740L|ADCY4_ENST00000418030.2_Missense_Mutation_p.F740L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	740					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.F740L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCTTCAGCTCGAAGCTCATGT	0.632																																						uc001wov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(2218-2220)TTC>TTG		adenylate cyclase 4							47.0	40.0	42.0					14																	24792232		2203	4300	6503	SO:0001583	missense	196883				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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24792232G>C	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2220C>G	14.37:g.24792232G>C	ENSP00000312126:p.Phe740Leu					ADCY4_uc001wow.2_Missense_Mutation_p.F740L|ADCY4_uc010toh.1_Missense_Mutation_p.F426L|ADCY4_uc001wox.2_Missense_Mutation_p.F740L|ADCY4_uc001woy.2_Missense_Mutation_p.F740L	p.F740L	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	18	2226	-			740					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2220C>G	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738115	0.49045	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.76060	-0.99;-0.99;-0.99	4.31	0.286	0.15710	.	0.000000	0.47093	D	0.000257	T	0.61590	0.2359	L	0.49350	1.555	0.80722	D	1	B	0.16396	0.017	B	0.18871	0.023	T	0.46261	-0.9204	10	0.20519	T	0.43	.	7.3935	0.26923	0.5038:0.0:0.4962:0.0	.	740	Q8NFM4	ADCY4_HUMAN	L	740	ENSP00000312126:F740L;ENSP00000452250:F740L;ENSP00000393177:F740L	ENSP00000312126:F740L	F	-	3	2	ADCY4	23862072	0.291000	0.24352	0.978000	0.43139	0.993000	0.82548	-0.297000	0.08276	0.111000	0.17947	0.563000	0.77884	TTC		PASS	0.632	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			4	34	4	34	---	---	---	---
EGLN3	112399	broad.mit.edu	37	14	34419786	34419786	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:34419786T>A	ENST00000250457.3	-	1	501	c.173A>T	c.(172-174)gAc>gTc	p.D58V	EGLN3_ENST00000547327.2_Missense_Mutation_p.D58V|EGLN3_ENST00000553215.1_Intron	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	58					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)	p.D58V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CAGCTGGCCGTCCCGCAGGGC	0.716																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	uc001wsa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GAC>GTC		egl nine homolog 3	Vitamin C(DB00126)						21.0	26.0	24.0					14																	34419786		2179	4258	6437	SO:0001583	missense	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419786T>A	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.173A>T	14.37:g.34419786T>A	ENSP00000250457:p.Asp58Val					EGLN3_uc001wry.2_Intron|EGLN3_uc001wrz.2_Missense_Mutation_p.D58V|EGLN3_uc001wsb.1_Missense_Mutation_p.D58V	p.D58V	NM_022073	NP_071356	Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	499	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		58					Q2TA79|Q3B8N4|Q6P1R2	Missense_Mutation	SNP	ENST00000250457.3	37	c.173A>T	CCDS9646.1	.	.	.	.	.	.	.	.	.	.	T	19.87	3.907591	0.72868	.	.	ENSG00000129521	ENST00000250457;ENST00000539567;ENST00000547327	T;T	0.24350	1.86;1.86	5.68	5.68	0.88126	Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.55577	0.1929	M	0.85197	2.74	0.80722	D	1	D;P	0.89917	1.0;0.652	D;P	0.76575	0.988;0.456	T	0.59359	-0.7469	10	0.42905	T	0.14	-13.581	15.933	0.79679	0.0:0.0:0.0:1.0	.	58;58	F8VR39;Q9H6Z9	.;EGLN3_HUMAN	V	58	ENSP00000250457:D58V;ENSP00000446572:D58V	ENSP00000250457:D58V	D	-	2	0	EGLN3	33489537	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	3.413000	0.52686	2.155000	0.67459	0.460000	0.39030	GAC		PASS	0.716	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			8	16	8	16	---	---	---	---
LRR1	122769	broad.mit.edu	37	14	50074710	50074710	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:50074710G>A	ENST00000298288.6	+	3	1199	c.875G>A	c.(874-876)aGa>aAa	p.R292K	LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	292					protein ubiquitination (GO:0016567)			p.R292K(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGTGAATTTAGAAATTTATCC	0.333																																						uc001wwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(874-876)AGA>AAA		peptidylprolyl isomerase (cyclophilin)-like 5							34.0	37.0	36.0					14																	50074710		2203	4300	6503	SO:0001583	missense	122769							g.chr14:50074710G>A	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.875G>A	14.37:g.50074710G>A	ENSP00000298288:p.Arg292Lys					SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Missense_Mutation_p.R233K|PPIL5_uc001wwp.2_RNA	p.R292K	NM_152329	NP_689542	Q96L50	LLR1_HUMAN			3	1199	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		292			LRR 6.		A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Missense_Mutation	SNP	ENST00000298288.6	37	c.875G>A	CCDS9686.1	.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467130	0.04476	.	.	ENSG00000165501	ENST00000298288;ENST00000361579	T	0.17691	2.26	5.89	4.76	0.60689	.	0.199228	0.52532	N	0.000066	T	0.05318	0.0141	N	0.03209	-0.39	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24083	-1.0170	10	0.05351	T	0.99	-9.021	4.786	0.13225	0.6977:0.0:0.1619:0.1404	.	314;292	A8MSW2;Q96L50	.;LLR1_HUMAN	K	292;314	ENSP00000298288:R292K	ENSP00000298288:R292K	R	+	2	0	LRR1	49144460	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	2.675000	0.46875	1.078000	0.41014	-0.482000	0.04802	AGA		PASS	0.333	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1	NM_203467		3	54	3	54	---	---	---	---
WDHD1	11169	broad.mit.edu	37	14	55408302	55408302	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:55408302T>C	ENST00000360586.3	-	26	3361	c.3296A>G	c.(3295-3297)aAa>aGa	p.K1099R	WDHD1_ENST00000420358.2_Missense_Mutation_p.K976R|WDHD1_ENST00000421192.1_Missense_Mutation_p.K976R|WDHD1_ENST00000359167.4_Missense_Mutation_p.K617R	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1099					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.K1099R(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCTTTTGCTTTTTCTTCCTG	0.373																																						uc001xbm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3295-3297)AAA>AGA		WD repeat and HMG-box DNA binding protein 1							164.0	164.0	164.0					14																	55408302		2201	4299	6500	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55408302T>C	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.3296A>G	14.37:g.55408302T>C	ENSP00000353793:p.Lys1099Arg					WDHD1_uc010aom.1_Missense_Mutation_p.K616R|WDHD1_uc001xbn.1_Missense_Mutation_p.K976R	p.K1099R	NM_007086	NP_009017	O75717	WDHD1_HUMAN			26	3374	-			1099					C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.3296A>G	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	T	2.731	-0.264435	0.05754	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.62105	0.42;0.91;0.05	5.78	0.515	0.17013	.	0.627507	0.16207	N	0.224621	T	0.48241	0.1489	L	0.40543	1.245	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.14023	0.01;0.004	T	0.32561	-0.9902	10	0.25106	T	0.35	.	10.1147	0.42583	0.0:0.0743:0.5948:0.3309	.	617;1099	F8W7P7;O75717	.;WDHD1_HUMAN	R	1099;617;976	ENSP00000353793:K1099R;ENSP00000352085:K617R;ENSP00000391049:K976R	ENSP00000352085:K617R	K	-	2	0	WDHD1	54478052	0.731000	0.28111	0.006000	0.13384	0.000000	0.00434	1.363000	0.34159	0.132000	0.18615	-1.243000	0.01532	AAA		PASS	0.373	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086		31	55	31	55	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66209111	66209111	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:66209111C>G	ENST00000360689.5	+	11	3438	c.1711C>G	c.(1711-1713)Cct>Gct	p.P571A	FUT8_ENST00000394585.1_Missense_Mutation_p.P571A|FUT8_ENST00000557164.1_Missense_Mutation_p.P408A|FUT8_ENST00000417683.1_Missense_Mutation_p.P165A|FUT8_ENST00000394586.2_Missense_Mutation_p.P571A|FUT8_ENST00000358307.2_Missense_Mutation_p.P442A	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	571					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.P571A(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CCCCACATATCCTGAGGCTGA	0.438																																						uc001xin.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1711-1713)CCT>GCT		fucosyltransferase 8 isoform a							29.0	31.0	30.0					14																	66209111		2202	4299	6501	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66209111C>G	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.1711C>G	14.37:g.66209111C>G	ENSP00000353910:p.Pro571Ala					FUT8_uc001xio.2_Missense_Mutation_p.P571A|FUT8_uc010tsp.1_Missense_Mutation_p.P408A|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.P571A|FUT8_uc001xiq.2_Missense_Mutation_p.P442A|FUT8_uc001xis.2_Missense_Mutation_p.P165A	p.P571A	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	11	2908	+			571			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.1711C>G	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.081439	0.55753	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307;ENST00000417683	T;T;T;T;T;T	0.42513	1.95;1.95;1.58;1.95;1.56;0.97	5.85	5.85	0.93711	.	0.098768	0.64402	D	0.000001	T	0.35068	0.0919	L	0.28115	0.83	0.80722	D	1	B;B;B	0.20164	0.014;0.042;0.017	B;B;B	0.18263	0.005;0.014;0.021	T	0.08680	-1.0710	10	0.59425	D	0.04	-12.7783	17.648	0.88154	0.0:1.0:0.0:0.0	.	165;442;571	Q8IUA5;G3XAD2;Q9BYC5	.;.;FUT8_HUMAN	A	571;571;408;571;442;165	ENSP00000353910:P571A;ENSP00000378087:P571A;ENSP00000452433:P408A;ENSP00000378086:P571A;ENSP00000351057:P442A;ENSP00000396770:P165A	ENSP00000351057:P442A	P	+	1	0	FUT8	65278864	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.818000	0.86416	2.767000	0.95098	0.563000	0.77884	CCT		PASS	0.438	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		4	57	4	57	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102498739	102498739	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr14:102498739C>T	ENST00000360184.4	+	52	10178	c.10014C>T	c.(10012-10014)atC>atT	p.I3338I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3338	Stalk. {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.I3338I(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						GGAAGCAGATCCGCTCCATCA	0.562																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(10012-10014)ATC>ATT		cytoplasmic dynein 1 heavy chain 1							139.0	111.0	121.0					14																	102498739		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:102498739C>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.10014C>T	14.37:g.102498739C>T							p.I3338I	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			52	10178	+			3338			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.10014C>T	CCDS9966.1																																																																																				PASS	0.562	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		38	59	38	59	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29400588	29400588	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:29400588G>C	ENST00000558402.1	+	14	2632	c.2033G>C	c.(2032-2034)gGa>gCa	p.G678A	APBA2_ENST00000561069.1_Missense_Mutation_p.G678A|APBA2_ENST00000558330.1_Missense_Mutation_p.G666A|APBA2_ENST00000558259.1_Missense_Mutation_p.G678A|APBA2_ENST00000411764.1_Missense_Mutation_p.G666A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	678	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.G678A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GTGCAGAATGGAATTGTGAGT	0.617																																						uc001zck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2032-2034)GGA>GCA		amyloid beta A4 precursor protein-binding,							153.0	141.0	145.0					15																	29400588		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29400588G>C	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.2033G>C	15.37:g.29400588G>C	ENSP00000453293:p.Gly678Ala					APBA2_uc010azj.2_Missense_Mutation_p.G666A|APBA2_uc010uat.1_Missense_Mutation_p.G666A|APBA2_uc001zcl.2_Missense_Mutation_p.G666A	p.G678A	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	12	2240	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	678			PDZ 2.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.2033G>C	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505960	0.44558	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.68624	-0.34	4.27	2.39	0.29439	PDZ/DHR/GLGF (4);	0.121175	0.53938	D	0.000056	D	0.82688	0.5091	H	0.96460	3.825	0.80722	D	1	P;P;D	0.62365	0.648;0.869;0.991	B;B;P	0.57679	0.264;0.239;0.825	D	0.84871	0.0825	10	0.87932	D	0	.	9.8572	0.41092	0.1676:0.0:0.8324:0.0	.	666;666;678	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	A	666;678	ENSP00000409312:G666A	ENSP00000219865:G678A	G	+	2	0	APBA2	27187880	1.000000	0.71417	0.687000	0.30102	0.094000	0.18550	9.552000	0.98115	0.550000	0.28991	-0.812000	0.03155	GGA		PASS	0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		25	60	25	60	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34135745	34135745	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:34135745C>A	ENST00000389232.4	+	92	13336	c.13266C>A	c.(13264-13266)ttC>ttA	p.F4422L	RYR3_ENST00000415757.3_Missense_Mutation_p.F4417L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4422					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.F4421L(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)		TTGTAGCCTTCGCTATCAACT	0.393																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13264-13266)TTC>TTA		ryanodine receptor 3							117.0	102.0	107.0					15																	34135745		1846	4105	5951	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34135745C>A		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.13266C>A	15.37:g.34135745C>A	ENSP00000373884:p.Phe4422Leu					RYR3_uc010bar.2_Missense_Mutation_p.F4417L	p.F4422L	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)	92	13336	+		all_lung(180;7.18e-09)	4422			Helical; Name=M5; (Potential).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13266C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052811	0.75960	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98978	-5.29	5.08	2.21	0.28008	Ryanodine Receptor TM 4-6 (1);	0.000000	0.85682	D	0.000000	D	0.98893	0.9625	M	0.80847	2.515	0.45035	D	0.998051	D;D	0.76494	0.996;0.999	D;D	0.91635	0.988;0.999	D	0.98686	1.0694	10	0.87932	D	0	.	5.3424	0.15990	0.0:0.5075:0.0:0.4925	.	4417;4422	Q15413-2;Q15413	.;RYR3_HUMAN	L	4422;4418	ENSP00000373884:F4422L	ENSP00000354735:F4418L	F	+	3	2	RYR3	31923037	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.643000	0.24750	0.845000	0.35118	0.655000	0.94253	TTC		PASS	0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			14	11	14	11	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40498506	40498506	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:40498506C>G	ENST00000287598.6	+	15	2051	c.1856C>G	c.(1855-1857)tCc>tGc	p.S619C	BUB1B_ENST00000412359.3_Missense_Mutation_p.S633C	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	619					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S619C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CGTTTTGTATCCACTCCTTTT	0.453			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - Missense(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(1855-1857)TCC>TGC		budding uninhibited by benzimidazoles 1 beta							97.0	98.0	98.0					15																	40498506		2203	4300	6503	SO:0001583	missense	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40498506C>G	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1856C>G	15.37:g.40498506C>G	ENSP00000287598:p.Ser619Cys					BUB1B_uc010ucl.1_Missense_Mutation_p.S487C	p.S619C	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	15	2068	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	619					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.1856C>G	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448527	0.84101	.	.	ENSG00000156970	ENST00000287598;ENST00000412359	T;T	0.49139	0.87;0.79	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	T	0.68760	0.3036	M	0.68952	2.095	0.50039	D	0.999841	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.963	T	0.71189	-0.4666	10	0.87932	D	0	-2.708	19.3944	0.94601	0.0:1.0:0.0:0.0	.	633;619	O60566-3;O60566	.;BUB1B_HUMAN	C	619;633	ENSP00000287598:S619C;ENSP00000398470:S633C	ENSP00000287598:S619C	S	+	2	0	BUB1B	38285798	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.515000	0.67049	2.574000	0.86865	0.591000	0.81541	TCC		PASS	0.453	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			9	68	9	68	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40498627	40498627	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:40498627C>T	ENST00000287598.6	+	15	2172	c.1977C>T	c.(1975-1977)atC>atT	p.I659I	BUB1B_ENST00000412359.3_Silent_p.I673I	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	659					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I659I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GTGGCACTATCTACAGTCAGA	0.448			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													uc001zkx.3			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	Mis|N|F|S	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|kidney(1)	4						c.(1975-1977)ATC>ATT		budding uninhibited by benzimidazoles 1 beta							106.0	112.0	110.0					15																	40498627		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic_Variegated_Aneuploidy_Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40498627C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1977C>T	15.37:g.40498627C>T						BUB1B_uc010ucl.1_Silent_p.I527I	p.I659I	NM_001211	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	15	2189	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	659					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.1977C>T	CCDS10053.1																																																																																				PASS	0.448	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			13	119	13	119	---	---	---	---
PLCB2	5330	broad.mit.edu	37	15	40594805	40594805	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:40594805C>G	ENST00000260402.3	-	4	486	c.237G>C	c.(235-237)caG>caC	p.Q79H	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.Q79H|PLCB2_ENST00000543785.2_Missense_Mutation_p.Q79H|PLCB2_ENST00000456256.2_Missense_Mutation_p.Q79H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	79					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.Q79H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCCGGAGCTTCTGGCTCTGCA	0.597																																						uc001zld.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(3)|kidney(1)|pancreas(1)	8						c.(235-237)CAG>CAC		phospholipase C, beta 2							77.0	82.0	81.0					15																	40594805		2061	4217	6278	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40594805C>G		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.237G>C	15.37:g.40594805C>G	ENSP00000260402:p.Gln79His					PLCB2_uc010bbo.2_Missense_Mutation_p.Q79H|PLCB2_uc010ucm.1_Missense_Mutation_p.Q79H|PLCB2_uc001zle.3_Missense_Mutation_p.Q79H	p.Q79H	NM_004573	NP_004564	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	4	538	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	79					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.237G>C	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564872	0.45694	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	T;T;T	0.43688	0.94;0.94;0.94	4.87	4.87	0.63330	.	0.157968	0.44483	D	0.000443	T	0.48677	0.1513	M	0.61703	1.905	0.39106	D	0.96138	P;B;P;B	0.51933	0.874;0.035;0.949;0.023	P;B;B;B	0.48030	0.564;0.038;0.231;0.028	T	0.45249	-0.9274	10	0.21014	T	0.42	.	18.5725	0.91140	0.0:1.0:0.0:0.0	.	79;79;79;79	B9EGH5;Q00722-2;Q9BVT6;Q00722	.;.;.;PLCB2_HUMAN	H	79	ENSP00000260402:Q79H;ENSP00000411991:Q79H;ENSP00000444652:Q79H	ENSP00000260402:Q79H	Q	-	3	2	PLCB2	38382097	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.323000	0.43823	2.711000	0.92665	0.561000	0.74099	CAG		PASS	0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			4	51	4	51	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42005472	42005472	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:42005472C>A	ENST00000570161.1	+	8	3208	c.3208C>A	c.(3208-3210)Cac>Aac	p.H1070N	MGA_ENST00000545763.1_Missense_Mutation_p.H1070N|MGA_ENST00000566586.1_Missense_Mutation_p.H1070N|MGA_ENST00000389936.4_Missense_Mutation_p.H1070N|MGA_ENST00000219905.7_Missense_Mutation_p.H1070N			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.H1070N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAACCTGCTCACTGCCGCCG	0.468																																						uc001zog.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(3208-3210)CAC>AAC		MAX-interacting protein isoform 2							149.0	142.0	144.0					15																	42005472		1984	4147	6131	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42005472C>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.3208C>A	15.37:g.42005472C>A	ENSP00000457035:p.His1070Asn					MGA_uc010ucy.1_Missense_Mutation_p.H1070N|MGA_uc010ucz.1_Missense_Mutation_p.H1070N	p.H1070N	NM_001080541	NP_001074010	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	9	3299	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1070					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.3208C>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101186	0.94245	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.15372	2.43;2.43;2.43	5.75	5.75	0.90469	.	0.164374	0.53938	D	0.000058	T	0.35008	0.0917	L	0.34521	1.04	0.52099	D	0.999948	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.986	T	0.04103	-1.0977	10	0.87932	D	0	.	19.9433	0.97172	0.0:1.0:0.0:0.0	.	1070;1070	F5H7K2;E7ENI0	.;.	N	1070	ENSP00000219905:H1070N;ENSP00000374586:H1070N;ENSP00000442467:H1070N	ENSP00000219905:H1070N	H	+	1	0	MGA	39792764	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.121000	0.77160	2.716000	0.92895	0.655000	0.94253	CAC		PASS	0.468	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		14	101	14	101	---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42201981	42201981	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:42201981G>C	ENST00000220325.4	-	5	1088	c.1005C>G	c.(1003-1005)atC>atG	p.I335M		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	335					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.I335M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GTAGCCTGCTGATAAGCTCTC	0.493																																						uc001zot.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1003-1005)ATC>ATG		EH-domain containing 4							277.0	244.0	255.0					15																	42201981		2203	4299	6502	SO:0001583	missense	30844				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr15:42201981G>C	AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1005C>G	15.37:g.42201981G>C	ENSP00000220325:p.Ile335Met						p.I335M	NM_139265	NP_644670	Q9H223	EHD4_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)	5	1068	-		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	335					Q9HAR1|Q9NZN2	Missense_Mutation	SNP	ENST00000220325.4	37	c.1005C>G	CCDS10081.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615454	0.66672	.	.	ENSG00000103966	ENST00000220325	T	0.22539	1.95	6.04	6.04	0.98038	.	0.048655	0.85682	D	0.000000	T	0.45316	0.1336	M	0.87328	2.875	0.58432	D	0.999999	P	0.44380	0.834	P	0.53313	0.723	T	0.44174	-0.9345	10	0.62326	D	0.03	-35.9983	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	335	Q9H223	EHD4_HUMAN	M	335	ENSP00000220325:I335M	ENSP00000220325:I335M	I	-	3	3	EHD4	39989273	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.366000	0.44204	2.873000	0.98535	0.561000	0.74099	ATC		PASS	0.493	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265		9	119	9	119	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081346	53081346	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:53081346C>A	ENST00000305901.5	-	1	863	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	246					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G246C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GGAGGAAGGCCGTTGATGGGC	0.726																																						uc002aci.1																			1	Substitution - Missense(1)		lung(1)		0						c.(736-738)GGC>TGC		one cut homeobox 1							53.0	60.0	58.0					15																	53081346		2193	4292	6485	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081346C>A	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.736G>T	15.37:g.53081346C>A	ENSP00000302630:p.Gly246Cys						p.G246C	NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	864	-			246					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.736G>T	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688596	0.48097	.	.	ENSG00000169856	ENST00000305901	T	0.50548	0.74	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	M	0.69358	2.11	0.80722	D	1	D	0.69078	0.997	P	0.56088	0.791	T	0.67245	-0.5719	10	0.87932	D	0	-15.2613	16.4501	0.83977	0.0:1.0:0.0:0.0	.	246	Q9UBC0	HNF6_HUMAN	C	246	ENSP00000302630:G246C	ENSP00000302630:G246C	G	-	1	0	ONECUT1	50868638	1.000000	0.71417	0.999000	0.59377	0.088000	0.18126	7.574000	0.82434	2.437000	0.82529	0.609000	0.83330	GGC		PASS	0.726	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			56	69	56	69	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63111816	63111816	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:63111816G>C	ENST00000561311.1	+	52	7103	c.6873G>C	c.(6871-6873)atG>atC	p.M2291I	TLN2_ENST00000306829.6_Missense_Mutation_p.M2291I			Q9Y4G6	TLN2_HUMAN	talin 2	2291					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.M2291I(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGGAAGCCATGAAAGGTAGGC	0.572																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(6871-6873)ATG>ATC		talin 2							38.0	39.0	39.0					15																	63111816		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63111816G>C	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6873G>C	15.37:g.63111816G>C	ENSP00000453508:p.Met2291Ile					TLN2_uc002alc.3_Missense_Mutation_p.M684I|TLN2_uc010uic.1_5'Flank	p.M2291I	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			50	6873	+			2291					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.6873G>C	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923681	0.52653	.	.	ENSG00000171914	ENST00000306829	T	0.67523	-0.27	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	M	0.68593	2.085	0.80722	D	1	B	0.17038	0.02	B	0.15484	0.013	T	0.64457	-0.6403	10	0.45353	T	0.12	-30.6053	19.1508	0.93487	0.0:0.0:1.0:0.0	.	2291	Q9Y4G6	TLN2_HUMAN	I	2291	ENSP00000303476:M2291I	ENSP00000303476:M2291I	M	+	3	0	TLN2	60898869	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	9.741000	0.98843	2.524000	0.85096	0.561000	0.74099	ATG		PASS	0.572	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	69	3	69	---	---	---	---
ZWILCH	55055	broad.mit.edu	37	15	66828295	66828295	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:66828295G>A	ENST00000307897.5	+	15	1746	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	ZWILCH_ENST00000535141.2_Missense_Mutation_p.D342N|ZWILCH_ENST00000446801.2_Missense_Mutation_p.D342N|ZWILCH_ENST00000565627.1_Missense_Mutation_p.D342N	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	456					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)		p.D456N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCCATCAGTAGATATACAAGA	0.333																																						uc002aqb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1366-1368)GAT>AAT		Zwilch							122.0	114.0	117.0					15																	66828295		2200	4296	6496	SO:0001583	missense	55055				cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding	g.chr15:66828295G>A	AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.1366G>A	15.37:g.66828295G>A	ENSP00000311429:p.Asp456Asn					ZWILCH_uc010bhu.1_Missense_Mutation_p.D342N|ZWILCH_uc002aqa.2_Missense_Mutation_p.D342N|ZWILCH_uc010bhv.2_Missense_Mutation_p.D342N	p.D456N	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN			15	1612	+			456					B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	ENST00000307897.5	37	c.1366G>A	CCDS10219.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546901	0.45383	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.55234	0.53;0.53;0.53	5.52	3.63	0.41609	.	0.182364	0.56097	D	0.000022	T	0.45074	0.1324	L	0.58101	1.795	0.22896	N	0.998599	B	0.17465	0.022	B	0.21360	0.034	T	0.31613	-0.9937	10	0.23891	T	0.37	-5.2163	8.5337	0.33351	0.1354:0.0:0.7387:0.126	.	456	Q9H900	ZWILC_HUMAN	N	456;342;342	ENSP00000311429:D456N;ENSP00000402217:D342N;ENSP00000437749:D342N	ENSP00000311429:D456N	D	+	1	0	ZWILCH	64615349	0.998000	0.40836	0.009000	0.14445	0.942000	0.58702	2.879000	0.48522	0.792000	0.33850	0.561000	0.74099	GAT		PASS	0.333	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	NM_017975		7	75	7	75	---	---	---	---
PAQR5	54852	broad.mit.edu	37	15	69677078	69677078	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:69677078C>A	ENST00000340965.3	+	5	910	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	PAQR5_ENST00000561153.1_Missense_Mutation_p.S81Y|PAQR5_ENST00000561027.1_3'UTR|PAQR5_ENST00000395407.2_Missense_Mutation_p.S81Y	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	81					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)	p.S81Y(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						GACAGCTACTCCTGGCCCATG	0.522																																						uc002arz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(241-243)TCC>TAC		progestin and adipoQ receptor family member V							315.0	217.0	250.0					15																	69677078		2200	4298	6498	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69677078C>A		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.242C>A	15.37:g.69677078C>A	ENSP00000343877:p.Ser81Tyr					PAQR5_uc002asa.2_Missense_Mutation_p.S81Y	p.S81Y	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN			5	620	+			81			Helical; Name=2; (Potential).		Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.242C>A	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	C	9.636	1.137584	0.21123	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.29655	1.56;1.56	5.13	5.13	0.70059	.	0.231492	0.45867	D	0.000340	T	0.33818	0.0876	L	0.48362	1.52	0.40315	D	0.978762	P	0.50819	0.939	P	0.55055	0.767	T	0.17349	-1.0372	10	0.06099	T	0.92	-15.5988	9.6597	0.39947	0.0:0.9052:0.0:0.0948	.	81	Q9NXK6	MPRG_HUMAN	Y	81	ENSP00000378803:S81Y;ENSP00000343877:S81Y	ENSP00000343877:S81Y	S	+	2	0	PAQR5	67464132	0.987000	0.35691	0.998000	0.56505	0.979000	0.70002	2.335000	0.43929	2.397000	0.81536	0.561000	0.74099	TCC		PASS	0.522	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		12	189	12	189	---	---	---	---
LARP6	55323	broad.mit.edu	37	15	71124721	71124721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:71124721C>T	ENST00000299213.8	-	3	1216	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	382					regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.W382*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGGGGCTGCTCCAAGGACTTG	0.607																																						uc002ass.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1144-1146)TGG>TGA		La ribonucleoprotein domain family, member 6							38.0	37.0	38.0					15																	71124721		2199	4297	6496	SO:0001587	stop_gained	55323				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr15:71124721C>T	BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.1146G>A	15.37:g.71124721C>T	ENSP00000299213:p.Trp382*						p.W382*	NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN			3	1217	-			382					Q5XKE4|Q8N3N2|Q9NUR0	Nonsense_Mutation	SNP	ENST00000299213.8	37	c.1146G>A	CCDS32281.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871763	0.91587	.	.	ENSG00000166173	ENST00000299213	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.7589	15.4825	0.75539	0.0:1.0:0.0:0.0	.	.	.	.	X	382	.	ENSP00000299213:W382X	W	-	3	0	LARP6	68911775	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.280000	0.65603	2.581000	0.87130	0.555000	0.69702	TGG		PASS	0.607	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417197.2	NM_018357		6	57	6	57	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85488008	85488008	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:85488008G>T	ENST00000286749.3	+	17	1874	c.1784G>T	c.(1783-1785)gGg>gTg	p.G595V	SLC28A1_ENST00000537624.1_Missense_Mutation_p.G595V|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000394573.1_Missense_Mutation_p.G595V|SLC28A1_ENST00000538177.1_Missense_Mutation_p.G429V			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	595					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.G595V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ATGCCCAGGGGGGCTGAAGTT	0.602																																						uc002blg.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1783-1785)GGG>GTG		solute carrier family 28, member 1 isoform 1							91.0	90.0	90.0					15																	85488008		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85488008G>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1784G>T	15.37:g.85488008G>T	ENSP00000286749:p.Gly595Val					SLC28A1_uc010bnb.2_Missense_Mutation_p.G595V|SLC28A1_uc010upe.1_Missense_Mutation_p.G429V|SLC28A1_uc010upf.1_Missense_Mutation_p.G595V|SLC28A1_uc010upg.1_Intron	p.G595V	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		18	1986	+			595					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1784G>T	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	9.875	1.200048	0.22121	.	.	ENSG00000156222	ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.02737	4.18;4.68;4.66;4.66	4.72	-3.14	0.05250	.	0.546001	0.16722	N	0.202229	T	0.03136	0.0092	M	0.70595	2.14	0.54753	D	0.999985	B;B;B	0.30281	0.097;0.001;0.275	B;B;B	0.35899	0.037;0.002;0.213	T	0.46843	-0.9162	10	0.19147	T	0.46	-15.4721	0.6126	0.00764	0.3775:0.124:0.2473:0.2513	.	595;429;595	F5H560;B7Z3L6;O00337	.;.;S28A1_HUMAN	V	429;595;595;595	ENSP00000443752:G429V;ENSP00000444700:G595V;ENSP00000286749:G595V;ENSP00000378074:G595V	ENSP00000286749:G595V	G	+	2	0	SLC28A1	83289012	0.001000	0.12720	0.118000	0.21660	0.047000	0.14425	-0.346000	0.07760	-0.410000	0.07542	-0.310000	0.09108	GGG		PASS	0.602	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			4	116	4	116	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90999476	90999476	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:90999476G>T	ENST00000268182.5	+	15	1829	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	569					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.E569*(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AGCTAAACTTGAGGGAGTCCT	0.463																																						uc002bpl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(1705-1707)GAG>TAG		IQ motif containing GTPase activating protein 1							93.0	86.0	89.0					15																	90999476		2198	4298	6496	SO:0001587	stop_gained	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90999476G>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1705G>T	15.37:g.90999476G>T	ENSP00000268182:p.Glu569*						p.E569*	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		15	1806	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		569					A7MBM3	Nonsense_Mutation	SNP	ENST00000268182.5	37	c.1705G>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	39	7.357534	0.98235	.	.	ENSG00000140575	ENST00000268182	.	.	.	4.76	4.76	0.60689	.	0.133056	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-30.9254	16.9289	0.86184	0.0:0.0:1.0:0.0	.	.	.	.	X	569	.	ENSP00000268182:E569X	E	+	1	0	IQGAP1	88800480	1.000000	0.71417	0.977000	0.42913	0.997000	0.91878	4.778000	0.62368	2.472000	0.83506	0.650000	0.86243	GAG		PASS	0.463	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		12	67	12	67	---	---	---	---
FES	2242	broad.mit.edu	37	15	91428389	91428389	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr15:91428389C>G	ENST00000328850.3	+	2	256	c.114C>G	c.(112-114)gtC>gtG	p.V38V	FES_ENST00000444422.2_Silent_p.V38V|FES_ENST00000394300.3_Silent_p.V38V|FES_ENST00000414248.2_Silent_p.V38V|FES_ENST00000450438.2_Silent_p.V38V|FES_ENST00000394302.1_Silent_p.V38V	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	38	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)	p.V38V(1)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCAGCGGGTCAAGAGTGACA	0.642																																						uc002bpv.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(112-114)GTC>GTG		feline sarcoma oncogene isoform 1							91.0	98.0	96.0					15																	91428389		2198	4298	6496	SO:0001819	synonymous_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428389C>G	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.114C>G	15.37:g.91428389C>G						FES_uc010uqj.1_Silent_p.V38V|FES_uc010uqk.1_Silent_p.V38V|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.V38V|FES_uc002bpx.2_Silent_p.V38V|FES_uc002bpy.2_Silent_p.V38V	p.V38V	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		2	210	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		38			FCH.|Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Silent	SNP	ENST00000328850.3	37	c.114C>G	CCDS10365.1																																																																																				PASS	0.642	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		14	145	14	145	---	---	---	---
PDPK1	5170	broad.mit.edu	37	16	2647199	2647199	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:2647199G>C	ENST00000342085.4	+	13	1626	c.1477G>C	c.(1477-1479)Gtt>Ctt	p.V493L	PDPK1_ENST00000268673.7_Missense_Mutation_p.V366L|PDPK1_ENST00000441549.3_Intron|PDPK1_ENST00000354836.5_Missense_Mutation_p.V469L|PDPK1_ENST00000389224.3_Missense_Mutation_p.V466L|CTD-3126B10.1_ENST00000562166.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	493	PH.				actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)	p.V493L(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGTCAACAAAGTTCTGAAAGG	0.428																																						uc002cqs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1477-1479)GTT>CTT		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						84.0	83.0	83.0					16																	2647199		2198	4300	6498	SO:0001583	missense	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2647199G>C	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1477G>C	16.37:g.2647199G>C	ENSP00000344220:p.Val493Leu					PDPK1_uc002cqt.2_Missense_Mutation_p.V366L|PDPK1_uc010bsn.2_Intron|PDPK1_uc002cqu.2_Missense_Mutation_p.V466L	p.V493L	NM_002613	NP_002604	O15530	PDPK1_HUMAN			13	1621	+		Ovarian(90;0.17)	493			PH.		H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Missense_Mutation	SNP	ENST00000342085.4	37	c.1477G>C	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	-	25.7	4.664896	0.88251	.	.	ENSG00000140992	ENST00000342085;ENST00000268673;ENST00000354836;ENST00000389224	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	5.01	5.01	0.66863	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51007	0.1649	M	0.78916	2.43	0.80722	D	1	D;P	0.55385	0.971;0.781	D;B	0.64776	0.929;0.41	T	0.48736	-0.9009	10	0.41790	T	0.15	-31.9666	17.0462	0.86504	0.0:0.0:1.0:0.0	.	366;493	O15530-4;O15530	.;PDPK1_HUMAN	L	493;366;469;466	ENSP00000344220:V493L;ENSP00000268673:V366L;ENSP00000346895:V469L;ENSP00000373876:V466L	ENSP00000268673:V366L	V	+	1	0	PDPK1	2587200	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.596000	0.98267	2.612000	0.88384	0.655000	0.94253	GTT		PASS	0.428	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			5	96	5	96	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20492206	20492206	+	Missense_Mutation	SNP	C	C	T	rs369633543	byFrequency	TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:20492206C>T	ENST00000573854.1	+	12	1586	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	ACSM2A_ENST00000219054.6_Missense_Mutation_p.T491M|ACSM2A_ENST00000417235.2_Missense_Mutation_p.T412M|ACSM2A_ENST00000575690.1_Missense_Mutation_p.T491M|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Missense_Mutation_p.T263M|ACSM2A_ENST00000396104.2_Missense_Mutation_p.T491M	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	491					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.T491M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGGTTGAGACGGCTGTGATC	0.562													c|||	3	0.000599042	0.0	0.0	5008	,	,		19159	0.002		0.0	False		,,,				2504	0.001					uc010bwe.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1471-1473)ACG>ATG		acyl-CoA synthetase medium-chain family member		C	MET/THR	2,4402	4.2+/-10.8	0,2,2200	111.0	99.0	103.0		1472	3.3	0.1	16		103	0,8598		0,0,4299	no	missense	ACSM2A	NM_001010845.2	81	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	491/578	20492206	2,13000	2202	4299	6501	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492206C>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1472C>T	16.37:g.20492206C>T	ENSP00000459451:p.Thr491Met					ACSM2A_uc010vax.1_Missense_Mutation_p.T412M|ACSM2A_uc002dhf.3_Missense_Mutation_p.T491M|ACSM2A_uc002dhg.3_Missense_Mutation_p.T491M|ACSM2A_uc010vay.1_Missense_Mutation_p.T412M|ACSM2A_uc002dhh.3_Missense_Mutation_p.T121M	p.T491M	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			13	1711	+			491					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.1472C>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659280	0.47467	4.54E-4	0.0	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	3.26	3.26	0.37387	AMP-dependent synthetase/ligase (1);	0.575751	0.14538	N	0.313470	T	0.70202	0.3197	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.951;0.985	T	0.72846	-0.4169	10	0.72032	D	0.01	-0.1611	14.6156	0.68547	0.0:1.0:0.0:0.0	.	412;491	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	M	412;491;263;491	ENSP00000392169:T412M;ENSP00000219054:T491M;ENSP00000445082:T263M;ENSP00000379411:T491M	ENSP00000219054:T491M	T	+	2	0	ACSM2A	20399707	0.000000	0.05858	0.104000	0.21259	0.334000	0.28698	0.646000	0.24797	1.560000	0.49568	0.289000	0.19496	ACG		PASS	0.562	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		26	36	26	36	---	---	---	---
GSG1L	146395	broad.mit.edu	37	16	27856301	27856301	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:27856301G>C	ENST00000447459.2	-	4	716	c.632C>G	c.(631-633)cCc>cGc	p.P211R	GSG1L_ENST00000380897.3_Missense_Mutation_p.P56R|GSG1L_ENST00000395724.3_Missense_Mutation_p.P160R|GSG1L_ENST00000569166.1_Missense_Mutation_p.P56R|GSG1L_ENST00000380898.2_Missense_Mutation_p.P56R	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	211					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P56R(1)|p.P211R(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCAGGAATGGGGTCTCCAGTC	0.612																																						uc002doz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(631-633)CCC>CGC		GSG1-like isoform 1							85.0	58.0	67.0					16																	27856301		2197	4300	6497	SO:0001583	missense	146395					integral to membrane		g.chr16:27856301G>C	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.632C>G	16.37:g.27856301G>C	ENSP00000394954:p.Pro211Arg					GSG1L_uc010bya.1_Missense_Mutation_p.P160R|GSG1L_uc010bxz.1_Missense_Mutation_p.P56R|GSG1L_uc002doy.2_Missense_Mutation_p.P56R	p.P211R	NM_001109763	NP_001103233	Q6UXU4	GSG1L_HUMAN			4	717	-			211					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.632C>G	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653336	0.88056	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T;D;D	0.88046	1.2;1.13;-2.33;-2.33	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.93432	0.7905	M	0.76938	2.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.997	D	0.94226	0.7472	10	0.87932	D	0	.	17.3216	0.87238	0.0:0.0:1.0:0.0	.	160;56;211	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	R	211;160;56;56	ENSP00000394954:P211R;ENSP00000379074:P160R;ENSP00000370283:P56R;ENSP00000370282:P56R	ENSP00000370282:P56R	P	-	2	0	GSG1L	27763802	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.444000	0.97578	2.390000	0.81377	0.561000	0.74099	CCC		PASS	0.612	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		7	8	7	8	---	---	---	---
SEZ6L2	26470	broad.mit.edu	37	16	29888751	29888751	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:29888751C>T	ENST00000308713.5	-	11	2277	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.D540N|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.D470N|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.D514N	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	584	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.D584N(1)|p.D514N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGTCCCCGTCGAACAGCGTC	0.682																																						uc002duq.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1750-1752)GAC>AAC		seizure related 6 homolog (mouse)-like 2 isoform							22.0	24.0	23.0					16																	29888751		2196	4297	6493	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29888751C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1750G>A	16.37:g.29888751C>T	ENSP00000312550:p.Asp584Asn					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.D514N|SEZ6L2_uc002dur.3_Missense_Mutation_p.D514N|SEZ6L2_uc002dus.3_Missense_Mutation_p.D470N|SEZ6L2_uc010vec.1_Missense_Mutation_p.D584N|SEZ6L2_uc010ved.1_Missense_Mutation_p.D540N	p.D584N	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			11	1990	-			584			CUB 3.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1750G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	C	36	5.906251	0.97087	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.57	5.57	0.84162	CUB (5);	0.103394	0.42420	D	0.000716	T	0.60495	0.2273	M	0.69185	2.1	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.923;0.999;0.999;0.998;0.997;0.999	T	0.60244	-0.7301	10	0.54805	T	0.06	.	18.3115	0.90201	0.0:1.0:0.0:0.0	.	540;584;470;514;584;514	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	N	514;584;470;540	ENSP00000310206:D514N;ENSP00000312550:D584N;ENSP00000319215:D470N;ENSP00000439412:D540N	ENSP00000312550:D584N	D	-	1	0	SEZ6L2	29796252	1.000000	0.71417	0.978000	0.43139	0.930000	0.56654	3.598000	0.54038	2.618000	0.88619	0.655000	0.94253	GAC		PASS	0.682	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		9	30	9	30	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51171035	51171035	+	Silent	SNP	G	G	T	rs200583558		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:51171035G>T	ENST00000251020.4	-	3	3996	c.3963C>A	c.(3961-3963)atC>atA	p.I1321I	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000440970.1_Silent_p.I1224I|SALL1_ENST00000541611.1_Silent_p.I144I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1321					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I1321I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGTGACGATCTCCTTGC	0.592																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(3961-3963)ATC>ATA		sal-like 1 isoform a							58.0	50.0	53.0					16																	51171035		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51171035G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3963C>A	16.37:g.51171035G>T						SALL1_uc010vgr.1_Silent_p.I1224I|SALL1_uc010cbv.2_Silent_p.I173I	p.I1321I	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		3	3994	-		all_cancers(37;0.0322)	1321					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.3963C>A	CCDS10747.1																																																																																				PASS	0.592	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	25	16	25	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61854866	61854866	+	Silent	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:61854866A>G	ENST00000577390.1	-	6	1941	c.987T>C	c.(985-987)gaT>gaC	p.D329D	CDH8_ENST00000577730.1_Silent_p.D329D|CDH8_ENST00000299345.6_Silent_p.D329D|CDH8_ENST00000584337.1_Silent_p.D329D	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.D329D(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGGCCTGGGCATCAGAAGTGA	0.383																																						uc002eog.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(985-987)GAT>GAC		cadherin 8, type 2 preproprotein							153.0	127.0	136.0					16																	61854866		2203	4300	6503	SO:0001819	synonymous_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61854866A>G	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.987T>C	16.37:g.61854866A>G						CDH8_uc002eoh.2_Silent_p.D98D	p.D329D	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	6	1239	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	329			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Silent	SNP	ENST00000577390.1	37	c.987T>C	CCDS10802.1																																																																																				PASS	0.383	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		29	28	29	28	---	---	---	---
ACD	65057	broad.mit.edu	37	16	67694088	67694088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:67694088C>T	ENST00000393919.4	-	1	558	c.294G>A	c.(292-294)tgG>tgA	p.W98*	PARD6A_ENST00000219255.3_5'Flank|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|ACD_ENST00000219251.8_Nonsense_Mutation_p.W98*			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	98					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.W98*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCTCCCGAATCCAGGGCCGTA	0.701																																						uc002etq.3																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(292-294)TGG>TGA		adrenocortical dysplasia homolog isoform 1							31.0	40.0	37.0					16																	67694088		2191	4296	6487	SO:0001587	stop_gained	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67694088C>T	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.294G>A	16.37:g.67694088C>T	ENSP00000377496:p.Trp98*					ACD_uc002etp.3_Nonsense_Mutation_p.W98*|ACD_uc002etr.3_Nonsense_Mutation_p.W98*|ACD_uc010vjt.1_Nonsense_Mutation_p.W88*|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank	p.W98*	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	1	631	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	98			PWI.		Q562H5|Q9H8F9	Nonsense_Mutation	SNP	ENST00000393919.4	37	c.294G>A	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890092	0.97068	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	.	.	.	4.46	4.46	0.54185	.	0.000000	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7203	12.4816	0.55847	0.0:1.0:0.0:0.0	.	.	.	.	X	98	.	ENSP00000219251:W98X	W	-	3	0	ACD	66251589	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	2.753000	0.47524	2.317000	0.78254	0.563000	0.77884	TGG		PASS	0.701	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		19	81	19	81	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68225270	68225270	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:68225270G>A	ENST00000346183.3	+	9	2722	c.2698G>A	c.(2698-2700)Gac>Aac	p.D900N	SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000349223.5_Missense_Mutation_p.D900N|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.D900N|NFATC3_ENST00000575270.1_Missense_Mutation_p.D900N	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	900					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D900N(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCCAGTGGCTGACCAGATTAC	0.463																																						uc002evo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(2698-2700)GAC>AAC		nuclear factor of activated T-cells,							109.0	104.0	106.0					16																	68225270		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68225270G>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2698G>A	16.37:g.68225270G>A	ENSP00000300659:p.Asp900Asn					NFATC3_uc010vkl.1_Missense_Mutation_p.D421N|NFATC3_uc010vkm.1_Missense_Mutation_p.D421N|NFATC3_uc010vkn.1_Missense_Mutation_p.D421N|NFATC3_uc010vko.1_Missense_Mutation_p.D421N|NFATC3_uc010vkp.1_Missense_Mutation_p.D421N|NFATC3_uc010vkq.1_Missense_Mutation_p.D421N|NFATC3_uc002evl.2_Missense_Mutation_p.D421N|NFATC3_uc002evk.2_Missense_Mutation_p.D900N|NFATC3_uc002evm.1_Missense_Mutation_p.D900N|NFATC3_uc002evn.1_Missense_Mutation_p.D900N|NFATC3_uc010vkr.1_Missense_Mutation_p.D421N|NFATC3_uc010vks.1_Missense_Mutation_p.D421N|NFATC3_uc010vkt.1_Missense_Mutation_p.D421N|NFATC3_uc010vku.1_Missense_Mutation_p.D421N|NFATC3_uc010vkv.1_Missense_Mutation_p.D421N|NFATC3_uc010vkw.1_Missense_Mutation_p.D421N|NFATC3_uc010vkx.1_Missense_Mutation_p.D421N|NFATC3_uc010vky.1_Missense_Mutation_p.D421N|NFATC3_uc010vkz.1_Missense_Mutation_p.D421N|NFATC3_uc010vla.1_Missense_Mutation_p.D421N|NFATC3_uc010vlb.1_Missense_Mutation_p.D421N|NFATC3_uc010vlc.1_Missense_Mutation_p.D421N	p.D900N	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	2908	+		Ovarian(137;0.0563)	900					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.2698G>A	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154504	0.21371	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.08282	3.11;3.11;3.11	5.49	2.46	0.29980	.	0.354380	0.32459	N	0.006073	T	0.04815	0.0130	N	0.24115	0.695	0.21020	N	0.999808	B;B;B;B	0.28128	0.201;0.152;0.181;0.181	B;B;B;B	0.24394	0.016;0.053;0.036;0.036	T	0.40117	-0.9580	10	0.22706	T	0.39	-3.2312	7.3944	0.26927	0.2562:0.0:0.7438:0.0	.	900;900;900;900	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	N	900;900;900;421	ENSP00000264008:D900N;ENSP00000300659:D900N;ENSP00000331324:D900N	ENSP00000331324:D900N	D	+	1	0	NFATC3	66782771	0.962000	0.33011	0.892000	0.35008	0.437000	0.31866	1.973000	0.40550	1.313000	0.45069	-0.266000	0.10368	GAC		PASS	0.463	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		6	140	6	140	---	---	---	---
CIRH1A	84916	broad.mit.edu	37	16	69170611	69170611	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:69170611C>G	ENST00000314423.7	+	3	349	c.172C>G	c.(172-174)Cat>Gat	p.H58D	CIRH1A_ENST00000563094.1_Missense_Mutation_p.H58D|CIRH1A_ENST00000352319.4_Missense_Mutation_p.H58D			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	58					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)	p.H58D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TTTCCCAGGTCATGAGTCTCG	0.463																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.3																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)CAT>GAT		cirhin							205.0	202.0	203.0					16																	69170611		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69170611C>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.172C>G	16.37:g.69170611C>G	ENSP00000327179:p.His58Asp					CIRH1A_uc002ewr.2_Missense_Mutation_p.H58D|CIRH1A_uc002ewt.3_5'UTR|CIRH1A_uc010cfi.2_5'UTR	p.H58D	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	3	268	+			58			WD 2.		Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.172C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728292	0.30593	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.54866	0.55;0.55	5.62	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.374461	0.31760	N	0.007119	T	0.37156	0.0993	L	0.28115	0.83	0.28918	N	0.892305	B;B	0.10296	0.0;0.003	B;B	0.09377	0.001;0.004	T	0.30446	-0.9978	10	0.42905	T	0.14	.	10.0532	0.42228	0.2747:0.5922:0.133:0.0	.	58;58	Q969X6;Q969X6-3	CIR1A_HUMAN;.	D	58	ENSP00000327179:H58D;ENSP00000339164:H58D	ENSP00000327179:H58D	H	+	1	0	CIRH1A	67728112	0.941000	0.31946	1.000000	0.80357	0.997000	0.91878	0.821000	0.27338	1.469000	0.48083	0.655000	0.94253	CAT		PASS	0.463	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		14	289	14	289	---	---	---	---
LDHD	197257	broad.mit.edu	37	16	75148111	75148111	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:75148111G>C	ENST00000300051.4	-	6	697	c.651C>G	c.(649-651)atC>atG	p.I217M	LDHD_ENST00000450168.2_Intron	NM_153486.3	NP_705690.2			lactate dehydrogenase D									p.I217M(1)		endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGTGATGAGGGATTTCTGGCC	0.632																																						uc002fdm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(649-651)ATC>ATG		D-lactate dehydrogenase isoform 1 precursor							109.0	117.0	114.0					16																	75148111		2198	4300	6498	SO:0001583	missense	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75148111G>C	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000300051.4:c.651C>G	16.37:g.75148111G>C	ENSP00000300051:p.Ile217Met					LDHD_uc002fdn.2_Intron	p.I217M	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN			6	698	-			217			FAD-binding PCMH-type.			Missense_Mutation	SNP	ENST00000300051.4	37	c.651C>G	CCDS10913.1	.	.	.	.	.	.	.	.	.	.	G	7.148	0.583260	0.13749	.	.	ENSG00000166816	ENST00000300051	D	0.87966	-2.32	3.63	1.67	0.24075	FAD-linked oxidase, FAD-binding, subdomain 2 (1);FAD-binding, type 2 (2);	2.258310	0.02569	N	0.097588	D	0.83179	0.5198	L	0.47716	1.5	0.09310	N	0.999998	B	0.34015	0.435	B	0.29440	0.102	T	0.70565	-0.4837	10	0.87932	D	0	-2.4591	7.3555	0.26717	0.2046:0.0:0.7954:0.0	.	217	Q86WU2	LDHD_HUMAN	M	217	ENSP00000300051:I217M	ENSP00000300051:I217M	I	-	3	3	LDHD	73705612	0.015000	0.18098	0.001000	0.08648	0.033000	0.12548	0.619000	0.24388	0.527000	0.28560	0.462000	0.41574	ATC		PASS	0.632	LDHD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269018.2	NM_153486		5	194	5	194	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76574669	76574669	+	Missense_Mutation	SNP	G	G	C	rs376794927		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:76574669G>C	ENST00000476707.1	+	20	3572	c.3433G>C	c.(3433-3435)Gta>Cta	p.V1145L	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V1141L|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V1093L|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V1069L			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1142	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.V1069L(1)|p.V1141L(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAAATCTCTGGTATTGGGCAG	0.368																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3424-3426)GTA>CTA		cell recognition protein CASPR4 isoform 1							76.0	70.0	72.0					16																	76574669		1898	4124	6022	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76574669G>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3433G>C	16.37:g.76574669G>C	ENSP00000417628:p.Val1145Leu					CNTNAP4_uc002fev.1_Missense_Mutation_p.V1006L|CNTNAP4_uc010chb.1_Missense_Mutation_p.V1069L|CNTNAP4_uc002fex.1_Missense_Mutation_p.V1145L	p.V1142L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			23	3809	+			1142			Extracellular (Potential).|Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3424G>C		.	.	.	.	.	.	.	.	.	.	G	14.09	2.432799	0.43224	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.65	4.7	0.59300	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.37623	N	0.002016	T	0.63838	0.2545	.	.	.	0.29477	N	0.856652	B;B;B	0.25169	0.023;0.025;0.119	B;B;B	0.29598	0.035;0.021;0.104	T	0.56251	-0.8010	9	0.27082	T	0.32	.	6.1583	0.20350	0.2929:0.0:0.7071:0.0	.	1069;1145;1142	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	L	1141;1093;1069;1145	ENSP00000306893:V1141L;ENSP00000439733:V1093L;ENSP00000418741:V1069L;ENSP00000417628:V1145L	ENSP00000306893:V1141L	V	+	1	0	CNTNAP4	75132170	0.218000	0.23608	0.961000	0.40146	0.986000	0.74619	0.980000	0.29513	1.633000	0.50488	0.655000	0.94253	GTA		PASS	0.368	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		6	9	6	9	---	---	---	---
MPHOSPH6	10200	broad.mit.edu	37	16	82197736	82197736	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:82197736T>C	ENST00000258169.4	-	2	165	c.115A>G	c.(115-117)Att>Gtt	p.I39V	MPHOSPH6_ENST00000569021.1_Missense_Mutation_p.I39V|MPHOSPH6_ENST00000567729.1_5'UTR|MPHOSPH6_ENST00000563504.1_Missense_Mutation_p.I21V	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	39					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.I39V(1)		endometrium(1)|large_intestine(1)|lung(3)	5						TCTTCACTAATGATTTTCTTT	0.353																																						uc002fgw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(115-117)ATT>GTT		M-phase phosphoprotein 6							86.0	90.0	89.0					16																	82197736		2200	4299	6499	SO:0001583	missense	10200				M phase of mitotic cell cycle|maturation of 5.8S rRNA	cytoplasm|nucleolus	protein binding|RNA binding	g.chr16:82197736T>C	X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.115A>G	16.37:g.82197736T>C	ENSP00000258169:p.Ile39Val						p.I39V	NM_005792	NP_005783	Q99547	MPH6_HUMAN			2	164	-			39					B2RAF0	Missense_Mutation	SNP	ENST00000258169.4	37	c.115A>G	CCDS10937.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677093	0.68042	.	.	ENSG00000135698	ENST00000258169	T	0.48522	0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.42291	0.1196	L	0.41710	1.295	0.58432	D	0.999999	P	0.44776	0.843	B	0.42462	0.388	T	0.28202	-1.0051	10	0.34782	T	0.22	-20.0951	13.868	0.63600	0.0:0.0:0.0:1.0	.	39	Q99547	MPH6_HUMAN	V	39	ENSP00000258169:I39V	ENSP00000258169:I39V	I	-	1	0	MPHOSPH6	80755237	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.197000	0.77814	2.221000	0.72209	0.528000	0.53228	ATT		PASS	0.353	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1	NM_005792		38	74	38	74	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87451175	87451175	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:87451175G>A	ENST00000268616.4	-	8	1080	c.863C>T	c.(862-864)tCc>tTc	p.S288F		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	288							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.S288F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CTGCAGACTGGAAGGCATGAG	0.602																																						uc002fjz.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(862-864)TCC>TTC		zinc finger, CCHC domain containing 14							160.0	175.0	170.0					16																	87451175		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451175G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.863C>T	16.37:g.87451175G>A	ENSP00000268616:p.Ser288Phe					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S64F	p.S288F	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	890	-			288					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.863C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327390	0.41197	.	.	ENSG00000140948	ENST00000268616	T	0.20069	2.1	5.77	4.8	0.61643	.	0.175707	0.51477	D	0.000093	T	0.31888	0.0811	L	0.32530	0.975	0.33094	D	0.538357	D;B	0.65815	0.995;0.44	P;B	0.58172	0.834;0.125	T	0.46133	-0.9213	10	0.66056	D	0.02	-13.966	16.4887	0.84193	0.0:0.0:0.8678:0.1322	.	288;288	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	F	288	ENSP00000268616:S288F	ENSP00000268616:S288F	S	-	2	0	ZCCHC14	86008676	1.000000	0.71417	0.025000	0.17156	0.214000	0.24535	6.811000	0.75221	1.558000	0.49541	-0.181000	0.13052	TCC		PASS	0.602	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		91	212	91	212	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89345518	89345518	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr16:89345518G>T	ENST00000301030.4	-	9	7892	c.7432C>A	c.(7432-7434)Ctg>Atg	p.L2478M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L2478M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2478					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L2478M(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGCCGTCCAGGAGGTAGGAG	0.647																																						uc002fmx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(7432-7434)CTG>ATG		ankyrin repeat domain 11							31.0	27.0	28.0					16																	89345518		2198	4299	6497	SO:0001583	missense	29123					nucleus		g.chr16:89345518G>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7432C>A	16.37:g.89345518G>T	ENSP00000301030:p.Leu2478Met					ANKRD11_uc002fmy.1_Missense_Mutation_p.L2478M|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2478M|ANKRD11_uc002fna.1_Missense_Mutation_p.L143M|ANKRD11_uc002fnb.1_Missense_Mutation_p.L2435M	p.L2478M	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	7893	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	2478					Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.7432C>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	g	18.05	3.536091	0.64972	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.60171	0.21;0.21	4.79	2.38	0.29361	.	0.000000	0.47455	D	0.000237	T	0.75057	0.3798	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77824	-0.2444	10	0.87932	D	0	.	10.2986	0.43639	0.3076:0.0:0.6924:0.0	.	2478	Q6UB99	ANR11_HUMAN	M	2478	ENSP00000301030:L2478M;ENSP00000367581:L2478M	ENSP00000301030:L2478M	L	-	1	2	ANKRD11	87873019	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	1.489000	0.35562	1.002000	0.39104	0.298000	0.19748	CTG		PASS	0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		11	27	11	27	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577153	7577153	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:7577153C>A	ENST00000269305.4	-	8	974	c.785G>T	c.(784-786)gGt>gTt	p.G262V	TP53_ENST00000420246.2_Missense_Mutation_p.G262V|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G262V|TP53_ENST00000455263.2_Missense_Mutation_p.G262V|TP53_ENST00000359597.4_Missense_Mutation_p.G262V	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	262	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation). {ECO:0000269|Ref.23}.|GN -> PD (in a sporadic cancer; 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.G262V(19)|p.0?(8)|p.G262D(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262fs*83(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262H(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.G262fs*2(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)	CAGTAGATTACCACTACTCAG	0.517		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		46	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(3)|Complex - deletion inframe(1)	p.G262V(11)|p.0?(7)|p.G262D(4)|p.G262fs*83(4)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G262del(2)|p.G262S(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.S261_G262insX(1)|p.G262fs*2(1)	lung(8)|large_intestine(5)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(5)|upper_aerodigestive_tract(4)|bone(4)|endometrium(2)|urinary_tract(2)|pancreas(2)|eye(1)|liver(1)|breast(1)|stomach(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.(784-786)GGT>GTT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							40.0	37.0	38.0					17																	7577153		2203	4299	6502	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.chr17:7577153C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.785G>T	17.37:g.7577153C>A	ENSP00000269305:p.Gly262Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G262V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G130V|TP53_uc010cng.1_Missense_Mutation_p.G130V|TP53_uc002gii.1_Missense_Mutation_p.G130V|TP53_uc010cnh.1_Missense_Mutation_p.G262V|TP53_uc010cni.1_Missense_Mutation_p.G262V|TP53_uc002gij.2_Missense_Mutation_p.G262V	p.G262V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	979	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	262		GN -> PD (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.785G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565296	0.86439	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99957	-9.0;-9.0;-9.0;-9.0;-9.0;-9.0	5.03	5.03	0.67393	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	M	0.90977	3.165	0.80722	D	1	D;P;D;D	0.89917	1.0;0.819;0.999;1.0	D;P;D;D	0.83275	0.996;0.537;0.996;0.992	D	0.95599	0.8661	10	0.87932	D	0	-15.6281	15.9038	0.79403	0.0:1.0:0.0:0.0	.	262;262;262;262	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	262;262;262;262;262;251;130	ENSP00000352610:G262V;ENSP00000269305:G262V;ENSP00000398846:G262V;ENSP00000391127:G262V;ENSP00000391478:G262V;ENSP00000425104:G130V	ENSP00000269305:G262V	G	-	2	0	TP53	7517878	1.000000	0.71417	0.951000	0.38953	0.085000	0.17905	7.572000	0.82409	2.619000	0.88677	0.462000	0.41574	GGT		PASS	0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	10	14	10	---	---	---	---
PIK3R6	146850	broad.mit.edu	37	17	8741176	8741176	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:8741176C>T	ENST00000311434.9	-	5	441	c.202G>A	c.(202-204)Gac>Aac	p.D68N	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	68					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.D149N(1)									TGCCGGAGGTCCTGGCTTTCC	0.582																																						uc002glq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)GAC>AAC		phosphoinositide-3-kinase, regulatory subunit 6							124.0	128.0	126.0					17																	8741176		2127	4238	6365	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8741176C>T	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.202G>A	17.37:g.8741176C>T	ENSP00000475670:p.Asp68Asn					PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.D68N	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			5	442	-			68					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.202G>A																																																																																					PASS	0.582	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		11	64	11	64	---	---	---	---
FOXN1	8456	broad.mit.edu	37	17	26861480	26861480	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:26861480C>G	ENST00000226247.2	+	6	1088	c.1059C>G	c.(1057-1059)atC>atG	p.I353M	FOXN1_ENST00000579795.1_Missense_Mutation_p.I353M	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	353					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I353M(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGGCCAAGATCGACAAGATGC	0.567																																						uc010crm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1057-1059)ATC>ATG		forkhead box N1							61.0	60.0	61.0					17																	26861480		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861480C>G	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1059C>G	17.37:g.26861480C>G	ENSP00000226247:p.Ile353Met					FOXN1_uc002hbj.2_Missense_Mutation_p.I353M	p.I353M	NM_003593	NP_003584	O15353	FOXN1_HUMAN			7	1257	+	Lung NSC(42;0.00431)		353			Fork-head.		B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.1059C>G	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813713	0.50527	.	.	ENSG00000109101	ENST00000226247	D	0.95554	-3.74	5.34	-4.71	0.03279	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	D	0.000001	D	0.95258	0.8462	M	0.63208	1.945	0.52501	D	0.99995	D	0.54772	0.968	P	0.62885	0.908	D	0.92573	0.6068	10	0.72032	D	0.01	.	9.1859	0.37170	0.1188:0.1788:0.0:0.7025	.	353	O15353	FOXN1_HUMAN	M	353	ENSP00000226247:I353M	ENSP00000226247:I353M	I	+	3	3	FOXN1	23885607	0.079000	0.21365	0.924000	0.36721	0.949000	0.60115	-0.819000	0.04462	-0.931000	0.03746	-0.749000	0.03505	ATC		PASS	0.567	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			32	49	32	49	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26967585	26967585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:26967585G>A	ENST00000528896.2	-	8	957	c.883C>T	c.(883-885)Caa>Taa	p.Q295*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q152*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q152*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	295						extracellular region (GO:0005576)		p.Q295*(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACCTCTTTTGACTATTCATG	0.488																																						uc002hbu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(883-885)CAA>TAA		hypothetical protein LOC9703 precursor							176.0	155.0	162.0					17																	26967585		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26967585G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.883C>T	17.37:g.26967585G>A	ENSP00000436773:p.Gln295*					KIAA0100_uc002hbv.2_Nonsense_Mutation_p.Q295*|KIAA0100_uc010crr.1_Nonsense_Mutation_p.Q152*	p.Q295*	NM_014680	NP_055495	Q14667	K0100_HUMAN			8	982	-	Lung NSC(42;0.00431)		295					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.883C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	39	7.678543	0.98428	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;152	.	ENSP00000005905:Q295X	Q	-	1	0	KIAA0100	23991712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.048000	0.76606	2.704000	0.92352	0.655000	0.94253	CAA		PASS	0.488	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		52	61	52	61	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29548922	29548922	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:29548922C>G	ENST00000358273.4	+	15	2079	c.1696C>G	c.(1696-1698)Cct>Gct	p.P566A	NF1_ENST00000356175.3_Missense_Mutation_p.P566A|NF1_ENST00000431387.4_Missense_Mutation_p.P566A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	566					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.P566A(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTGATGCTCCTGTAGAAAC	0.289			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(1696-1698)CCT>GCT		neurofibromin isoform 1							67.0	64.0	65.0					17																	29548922		2202	4298	6500	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29548922C>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1696C>G	17.37:g.29548922C>G	ENSP00000351015:p.Pro566Ala	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgf.1_Missense_Mutation_p.P566A|NF1_uc002hgh.2_Missense_Mutation_p.P566A|NF1_uc010csn.1_Missense_Mutation_p.P426A	p.P566A	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	15	2029	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	566					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.1696C>G	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725359	0.89298	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.10668	2.85;3.06;3.2;2.9	5.78	5.78	0.91487	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.97;1.0	D;D;P;D	0.85130	0.983;0.987;0.61;0.997	T	0.00299	-1.1836	10	0.52906	T	0.07	.	20.0022	0.97423	0.0:1.0:0.0:0.0	.	566;566;566;566	E1P657;P21359-2;P21359;Q14931	.;.;NF1_HUMAN;.	A	566;566;566;232	ENSP00000412921:P566A;ENSP00000351015:P566A;ENSP00000348498:P566A;ENSP00000389907:P232A	ENSP00000348498:P566A	P	+	1	0	NF1	26573048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.456000	0.80751	2.738000	0.93877	0.655000	0.94253	CCT		PASS	0.289	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		6	73	6	73	---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41879119	41879119	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:41879119C>G	ENST00000398389.4	-	20	1873	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	MPP3_ENST00000398393.1_Missense_Mutation_p.E595Q	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	570	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.E570Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCAGCTTCTCTAAGACCACT	0.537																																						uc002iei.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1708-1710)GAG>CAG		palmitoylated membrane protein 3							116.0	112.0	113.0					17																	41879119		1953	4145	6098	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41879119C>G		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1708G>C	17.37:g.41879119C>G	ENSP00000381425:p.Glu570Gln					MPP3_uc002ieh.2_Missense_Mutation_p.E595Q|MPP3_uc002iej.2_RNA	p.E570Q	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	20	1874	-		Breast(137;0.00394)	570			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1708G>C	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624735	0.46840	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.47869	0.83;0.83	5.42	5.42	0.78866	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.157852	0.56097	D	0.000029	T	0.49338	0.1551	L	0.53249	1.67	0.54753	D	0.999987	B;B	0.32382	0.368;0.368	B;B	0.42386	0.299;0.386	T	0.30621	-0.9972	10	0.07990	T	0.79	.	16.2504	0.82481	0.0:1.0:0.0:0.0	.	570;595	Q13368;D3DX46	MPP3_HUMAN;.	Q	595;570	ENSP00000381430:E595Q;ENSP00000381425:E570Q	ENSP00000381425:E570Q	E	-	1	0	MPP3	39234645	1.000000	0.71417	0.949000	0.38748	0.990000	0.78478	6.708000	0.74660	2.826000	0.97356	0.563000	0.77884	GAG		PASS	0.537	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		21	165	21	165	---	---	---	---
TMUB2	79089	broad.mit.edu	37	17	42271946	42271946	+	IGR	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:42271946A>G	ENST00000587989.1	+	0	1969				ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000389384.4_Silent_p.S278S|ATXN7L3_ENST00000454077.2_Silent_p.S285S			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2							integral component of membrane (GO:0016021)		p.S278S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGAGAGGTCAGAGGAGCCGT	0.577																																						uc002iga.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)TCT>TCC		ataxin 7-like 3 isoform b							36.0	38.0	38.0					17																	42271946		1950	4137	6087	SO:0001628	intergenic_variant	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42271946A>G		CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4			17.37:g.42271946A>G						ATXN7L3_uc010wiv.1_Silent_p.S60S|ATXN7L3_uc002ifz.2_Silent_p.S285S	p.S278S	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	11	925	-		Breast(137;0.00765)|Prostate(33;0.0181)	278					B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	c.834T>C	CCDS54134.1																																																																																				PASS	0.577	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1	NM_177441		22	39	22	39	---	---	---	---
HEXIM2	124790	broad.mit.edu	37	17	43246634	43246634	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:43246634G>C	ENST00000307275.3	+	4	755	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	RP13-890H12.2_ENST00000589796.1_RNA|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.E107Q|HEXIM2_ENST00000591576.1_Missense_Mutation_p.E107Q	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	107					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.E107Q(1)		endometrium(1)|large_intestine(3)|lung(1)	5						ACCCTACCTGGAGCTGAGCTG	0.672																																						uc002iih.1																			1	Substitution - Missense(1)		lung(1)		0						c.(319-321)GAG>CAG		hexamthylene bis-acetamide inducible 2							31.0	35.0	34.0					17																	43246634		2203	4300	6503	SO:0001583	missense	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246634G>C	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.319G>C	17.37:g.43246634G>C	ENSP00000302276:p.Glu107Gln					HEXIM2_uc010daf.1_Missense_Mutation_p.E129Q|HEXIM2_uc002iii.1_Missense_Mutation_p.E107Q|HEXIM2_uc002iij.1_Missense_Mutation_p.E107Q|uc002iik.1_RNA	p.E107Q	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN			4	558	+			107					D3DX66	Missense_Mutation	SNP	ENST00000307275.3	37	c.319G>C	CCDS11496.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370129	0.82573	.	.	ENSG00000168517	ENST00000307275	.	.	.	4.83	4.83	0.62350	.	0.049495	0.85682	D	0.000000	T	0.64338	0.2589	M	0.65975	2.015	0.35142	D	0.768914	D	0.71674	0.998	D	0.66351	0.943	T	0.72323	-0.4328	9	0.51188	T	0.08	-31.517	7.4442	0.27201	0.1752:0.0:0.8248:0.0	.	107	Q96MH2	HEXI2_HUMAN	Q	107	.	ENSP00000302276:E107Q	E	+	1	0	HEXIM2	40602417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.145000	0.58065	2.667000	0.90743	0.561000	0.74099	GAG		PASS	0.672	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		4	62	4	62	---	---	---	---
SKAP1	8631	broad.mit.edu	37	17	46474081	46474081	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:46474081C>T	ENST00000336915.6	-	2	182	c.113G>A	c.(112-114)aGa>aAa	p.R38K	SKAP1_ENST00000584924.1_Missense_Mutation_p.R38K	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	38					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.R38K(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AATATGGTCTCTGTGATCCCT	0.378																																						uc002ini.1																			1	Substitution - Missense(1)		lung(1)		0						c.(112-114)AGA>AAA		src kinase associated phosphoprotein 1 isoform							163.0	170.0	168.0					17																	46474081		2203	4300	6503	SO:0001583	missense	8631				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	g.chr17:46474081C>T	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.113G>A	17.37:g.46474081C>T	ENSP00000338171:p.Arg38Lys					SKAP1_uc002inj.1_Missense_Mutation_p.R38K|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Missense_Mutation_p.R38K	p.R38K	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN			2	225	-			38					D3DTV1|O15268	Missense_Mutation	SNP	ENST00000336915.6	37	c.113G>A	CCDS32674.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.256779	0.59321	.	.	ENSG00000141293	ENST00000336915	T	0.29397	1.57	5.55	5.55	0.83447	.	0.121290	0.53938	D	0.000057	T	0.38214	0.1032	L	0.57536	1.79	0.42210	D	0.991803	P;B	0.49447	0.924;0.355	P;B	0.49597	0.616;0.1	T	0.07712	-1.0758	10	0.33141	T	0.24	-5.1508	11.7227	0.51691	0.0:0.9179:0.0:0.0821	.	38;38	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	K	38	ENSP00000338171:R38K	ENSP00000338171:R38K	R	-	2	0	SKAP1	43829080	0.998000	0.40836	0.995000	0.50966	0.920000	0.55202	2.217000	0.42880	2.619000	0.88677	0.305000	0.20034	AGA		PASS	0.378	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443432.1	NM_003726		112	309	112	309	---	---	---	---
MKS1	54903	broad.mit.edu	37	17	56291733	56291733	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:56291733G>C	ENST00000393119.2	-	6	605	c.531C>G	c.(529-531)ctC>ctG	p.L177L	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Silent_p.L177L|MKS1_ENST00000337050.7_Silent_p.L177L|MKS1_ENST00000537529.2_Silent_p.L167L	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	177					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.L177L(2)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGCGTGACTTGAGGATGCCGC	0.557																																						uc002ivr.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(529-531)CTC>CTG		Meckel syndrome type 1 protein isoform 1							88.0	91.0	90.0					17																	56291733		1992	4153	6145	SO:0001819	synonymous_variant	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56291733G>C	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.531C>G	17.37:g.56291733G>C						MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Silent_p.L177L	p.L177L	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			6	606	-			177					B7WNX4|F5H885|Q284T0|Q96G13	Silent	SNP	ENST00000393119.2	37	c.531C>G	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500879	0.26861	.	.	ENSG00000011143	ENST00000313863	.	.	.	5.74	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-43.6771	8.0082	0.30338	0.0865:0.2866:0.6269:0.0	.	.	.	.	X	178	.	.	S	-	2	0	MKS1	53646732	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.361000	0.20267	1.382000	0.46385	0.643000	0.83706	TCA		PASS	0.557	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		8	65	8	65	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61561865	61561865	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:61561865G>C	ENST00000290866.4	+	12	1908	c.1884G>C	c.(1882-1884)tgG>tgC	p.W628C	ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000428043.1_Missense_Mutation_p.W628C	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	628	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.W628C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AGTACCAGTGGCACCCGCCGT	0.632																																						uc002jau.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1882-1884)TGG>TGC		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						26.0	24.0	25.0					17																	61561865		2200	4296	6496	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61561865G>C	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1884G>C	17.37:g.61561865G>C	ENSP00000290866:p.Trp628Cys					ACE_uc010ddu.1_Missense_Mutation_p.W445C|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	p.W628C	NM_000789	NP_000780	P12821	ACE_HUMAN			12	1906	+			628			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1884G>C	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946446	0.53186	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.51574	0.7;0.7	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.994	T	0.76083	-0.3089	10	0.56958	D	0.05	-9.7603	17.5672	0.87923	0.0:0.0:1.0:0.0	.	628;628	P12821-2;P12821	.;ACE_HUMAN	C	628	ENSP00000290866:W628C;ENSP00000397593:W628C	ENSP00000290866:W628C	W	+	3	0	ACE	58915597	1.000000	0.71417	0.997000	0.53966	0.127000	0.20565	6.276000	0.72601	2.389000	0.81357	0.462000	0.41574	TGG		PASS	0.632	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			3	19	3	19	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	64092382	64092382	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:64092382A>G	ENST00000392769.2	-	8	973	c.755T>C	c.(754-756)aTa>aCa	p.I252T	CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.I252T	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	252					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)		p.I252T(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTCTCACGTATTCGAGAGAG	0.323																																						uc002jfl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(754-756)ATA>ACA		coiled-coil domain containing 46 isoform a							115.0	105.0	108.0					17																	64092382		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64092382A>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.755T>C	17.37:g.64092382A>G	ENSP00000376522:p.Ile252Thr					CCDC46_uc002jfm.2_Missense_Mutation_p.I252T|CCDC46_uc010dep.2_Intron	p.I252T	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.53e-06)		8	974	-			252					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.755T>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	A	9.849	1.193245	0.22037	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	T;T	0.43688	0.94;0.94	5.87	5.87	0.94306	.	0.459715	0.23874	N	0.043709	T	0.33962	0.0881	L	0.29908	0.895	0.80722	D	1	B	0.21905	0.062	B	0.21917	0.037	T	0.10042	-1.0647	10	0.48119	T	0.1	-8.0458	13.6506	0.62308	1.0:0.0:0.0:0.0	.	252	Q8N8E3	CE112_HUMAN	T	252	ENSP00000442784:I252T;ENSP00000376522:I252T	ENSP00000376522:I252T	I	-	2	0	CEP112	61522844	1.000000	0.71417	0.999000	0.59377	0.034000	0.12701	3.436000	0.52856	2.247000	0.74100	0.482000	0.46254	ATA		PASS	0.323	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		54	91	54	91	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71228242	71228242	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr17:71228242G>A	ENST00000403627.3	-	1	264	c.204C>T	c.(202-204)agC>agT	p.S68S	FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_5'Flank|C17orf80_ENST00000577615.1_5'Flank|FAM104A_ENST00000581110.1_Silent_p.S68S|C17orf80_ENST00000535032.2_5'Flank|FAM104A_ENST00000583024.1_Silent_p.S68S|C17orf80_ENST00000582793.1_5'Flank|C17orf80_ENST00000268942.8_5'Flank|FAM104A_ENST00000405159.3_Silent_p.S68S|C17orf80_ENST00000426147.2_5'Flank|C17orf80_ENST00000359042.2_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	68								p.S68S(1)|p.S2S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			GGAGGCGCTCGCTCATGGCAG	0.692																																						uc002jji.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(202-204)AGC>AGT		hypothetical protein LOC84923 isoform 2							22.0	22.0	22.0					17																	71228242		2203	4296	6499	SO:0001819	synonymous_variant	84923							g.chr17:71228242G>A	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.204C>T	17.37:g.71228242G>A						FAM104A_uc002jjj.3_Silent_p.S68S|C17orf80_uc010wqu.1_5'Flank|C17orf80_uc010dfj.2_5'Flank|C17orf80_uc002jjk.1_5'Flank|C17orf80_uc002jjm.3_5'Flank|C17orf80_uc002jjl.3_5'Flank	p.S68S	NM_032837	NP_116226	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	292	-			68					B4E339	Silent	SNP	ENST00000403627.3	37	c.204C>T	CCDS11693.2																																																																																				PASS	0.692	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		11	10	11	10	---	---	---	---
HRH4	59340	broad.mit.edu	37	18	22057058	22057058	+	Missense_Mutation	SNP	G	G	T	rs116314403		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr18:22057058G>T	ENST00000256906.4	+	3	805	c.705G>T	c.(703-705)agG>agT	p.R235S	HRH4_ENST00000426880.2_Missense_Mutation_p.R147S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	235					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.R235S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TATCTTCAAGGAGATCTCTTT	0.453																																						uc002kvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(703-705)AGG>AGT		histamine H4 receptor isoform 1	Clozapine(DB00363)						120.0	117.0	118.0					18																	22057058		2203	4300	6503	SO:0001583	missense	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22057058G>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.705G>T	18.37:g.22057058G>T	ENSP00000256906:p.Arg235Ser					HRH4_uc010xbd.1_3'UTR|HRH4_uc010dlx.2_Missense_Mutation_p.R147S	p.R235S	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			3	805	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		235			Cytoplasmic (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	ENST00000256906.4	37	c.705G>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	3.535	-0.094999	0.07010	.	.	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.70164	-0.46;-0.31	5.66	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.953442	0.08833	N	0.886966	T	0.52289	0.1725	L	0.43646	1.37	0.09310	N	1	B;B	0.28419	0.211;0.009	B;B	0.30029	0.11;0.007	T	0.38134	-0.9675	10	0.07990	T	0.79	-12.8373	4.5884	0.12295	0.2308:0.1701:0.5991:0.0	.	147;235	B2KJ48;Q9H3N8	.;HRH4_HUMAN	S	235;147	ENSP00000256906:R235S;ENSP00000402526:R147S	ENSP00000256906:R235S	R	+	3	2	HRH4	20311056	0.005000	0.15991	0.026000	0.17262	0.018000	0.09664	0.703000	0.25646	0.163000	0.19507	0.561000	0.74099	AGG		PASS	0.453	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			26	92	26	92	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54424078	54424078	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr18:54424078G>C	ENST00000254442.3	+	15	2465	c.2254G>C	c.(2254-2256)Gag>Cag	p.E752Q	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.E752Q	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	752					hematopoietic progenitor cell differentiation (GO:0002244)			p.E752Q(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACGATCAAAGAGAACATCAA	0.433																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2254-2256)GAG>CAG		rabconnectin-3 beta isoform 1							60.0	59.0	59.0					18																	54424078		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54424078G>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2254G>C	18.37:g.54424078G>C	ENSP00000254442:p.Glu752Gln					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.E752Q	p.E752Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2465	+			752					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2254G>C	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881820	0.72294	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.68765	-0.35;-0.33	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	N	0.14661	0.345	0.51767	D	0.999939	D;P	0.71674	0.998;0.608	P;B	0.61874	0.895;0.154	T	0.70490	-0.4857	10	0.44086	T	0.13	.	19.9958	0.97383	0.0:0.0:1.0:0.0	.	752;752	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	Q	752;752;77;752	ENSP00000254442:E752Q;ENSP00000350187:E752Q	ENSP00000254442:E752Q	E	+	1	0	WDR7	52575076	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.461000	0.73522	2.826000	0.97356	0.655000	0.94253	GAG		PASS	0.433	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			7	33	7	33	---	---	---	---
SERPINB5	5268	broad.mit.edu	37	18	61160277	61160277	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr18:61160277G>A	ENST00000382771.4	+	5	808	c.516G>A	c.(514-516)atG>atA	p.M172I	SERPINB5_ENST00000489441.1_Missense_Mutation_p.M172I|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	172					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M172I(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GCAAGTGGATGAAGAAATTTT	0.413																																						uc002liz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(514-516)ATG>ATA		serine (or cysteine) proteinase inhibitor, clade							126.0	120.0	122.0					18																	61160277		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61160277G>A	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.516G>A	18.37:g.61160277G>A	ENSP00000372221:p.Met172Ile					SERPINB5_uc002liy.2_Missense_Mutation_p.M172I	p.M172I	NM_002639	NP_002630	P36952	SPB5_HUMAN			5	658	+			172					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.516G>A	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249241	0.59103	.	.	ENSG00000206075	ENST00000382771	D	0.84146	-1.81	6.05	6.05	0.98169	Serpin domain (3);	0.057085	0.85682	D	0.000000	T	0.81987	0.4939	L	0.54323	1.7	0.46564	D	0.999101	P;B	0.46457	0.878;0.327	B;B	0.39068	0.289;0.026	T	0.83119	-0.0119	10	0.49607	T	0.09	.	14.9827	0.71321	0.0:0.0:0.8573:0.1427	.	172;172	P36952;P36952-2	SPB5_HUMAN;.	I	172	ENSP00000372221:M172I	ENSP00000372221:M172I	M	+	3	0	SERPINB5	59311257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.648000	0.46647	2.880000	0.98712	0.655000	0.94253	ATG		PASS	0.413	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639		27	93	27	93	---	---	---	---
SERPINB10	5273	broad.mit.edu	37	18	61600392	61600392	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr18:61600392C>T	ENST00000238508.3	+	7	803	c.744C>T	c.(742-744)ctC>ctT	p.L248L		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	248					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L248L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GCCGTGACCTCAGCCTGCTTA	0.403																																						uc010xev.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(742-744)CTC>CTT		serine (or cysteine) proteinase inhibitor, clade							123.0	137.0	132.0					18																	61600392		2203	4300	6503	SO:0001819	synonymous_variant	5273					cytoplasm|nucleus	serine-type endopeptidase inhibitor activity	g.chr18:61600392C>T	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.744C>T	18.37:g.61600392C>T						SERPINB10_uc010xew.1_Silent_p.L248L	p.L248L	NM_005024	NP_005015	P48595	SPB10_HUMAN			7	834	+		Esophageal squamous(42;0.131)	248					Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	c.744C>T	CCDS11990.1																																																																																				PASS	0.403	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		14	199	14	199	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65180604	65180604	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr18:65180604G>A	ENST00000310045.7	-	2	2745	c.1272C>T	c.(1270-1272)aaC>aaT	p.N424N	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	414					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.N424N(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCACACCCCAGTTAGGGAATG	0.488																																						uc002lke.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(1270-1272)AAC>AAT		dermatan sulfate epimerase-like							81.0	67.0	71.0					18																	65180604		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180604G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1272C>T	18.37:g.65180604G>A							p.N424N	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	2496	-		Esophageal squamous(42;0.129)	414					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.1272C>T	CCDS11995.1																																																																																				PASS	0.488	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		25	44	25	44	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77895799	77895799	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr18:77895799G>T	ENST00000262198.4	+	4	2958	c.2503G>T	c.(2503-2505)Ggg>Tgg	p.G835W		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	835					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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.G835W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGAGAAGCTTGGGGAGCGGGA	0.522																																						uc002lnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(2503-2505)GGG>TGG		ADNP homeobox 2							66.0	67.0	67.0					18																	77895799		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77895799G>T	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.2503G>T	18.37:g.77895799G>T	ENSP00000262198:p.Gly835Trp						p.G835W	NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2958	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	835					A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.2503G>T	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509619	0.64522	.	.	ENSG00000101544	ENST00000262198	.	.	.	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	T	0.75700	0.3885	M	0.64997	1.995	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	T	0.74728	-0.3567	8	.	.	.	-27.9352	14.6019	0.68447	0.0:0.0:0.8537:0.1463	.	835	Q6IQ32	ADNP2_HUMAN	W	835	.	.	G	+	1	0	ADNP2	75996790	1.000000	0.71417	0.353000	0.25747	0.939000	0.58152	4.338000	0.59316	2.688000	0.91661	0.655000	0.94253	GGG		PASS	0.522	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		34	70	34	70	---	---	---	---
PIP5K1C	23396	broad.mit.edu	37	19	3633507	3633507	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:3633507C>G	ENST00000335312.3	-	17	2020	c.1932G>C	c.(1930-1932)gaG>gaC	p.E644D	PIP5K1C_ENST00000539785.1_Intron	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	644	Mediates interaction with TLN2.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)	p.E644D(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAGCTCCTCTCATCGGTGG	0.692																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|skin(2)	4						c.(1930-1932)GAG>GAC		phosphatidylinositol-4-phosphate 5-kinase, type							16.0	20.0	19.0					19																	3633507		2197	4295	6492	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3633507C>G	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1932G>C	19.37:g.3633507C>G	ENSP00000335333:p.Glu644Asp					PIP5K1C_uc010xhq.1_Intron	p.E644D	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	17	1989	-		Hepatocellular(1079;0.137)	644			Mediates interaction with TLN2.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.1932G>C	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	6.513	0.462920	0.12402	.	.	ENSG00000186111	ENST00000335312	T	0.26810	1.71	3.39	0.995	0.19838	.	0.084940	0.46145	U	0.000301	T	0.11965	0.0291	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14144	-1.0483	10	0.22706	T	0.39	-18.4326	12.0565	0.53538	0.0:0.4802:0.5198:0.0	.	644	O60331	PI51C_HUMAN	D	644	ENSP00000335333:E644D	ENSP00000335333:E644D	E	-	3	2	PIP5K1C	3584507	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	0.799000	0.27028	0.058000	0.16222	0.313000	0.20887	GAG		PASS	0.692	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		3	20	3	20	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10465286	10465286	+	Splice_Site	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:10465286C>G	ENST00000525621.1	-	19	3099		c.e19-1		TYK2_ENST00000264818.6_Splice_Site|TYK2_ENST00000529422.1_5'Flank|TYK2_ENST00000524462.1_Splice_Site	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2						cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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 tyrosine kinase activity (GO:0004713)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGCAAGATCTGGAAGAGTT	0.572																																						uc002moc.3																			1	Unknown(1)		lung(1)	lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.e19-1		tyrosine kinase 2							55.0	56.0	56.0					19																	10465286		2203	4300	6503	SO:0001630	splice_region_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10465286C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2618-1G>C	19.37:g.10465286C>G						TYK2_uc010dxe.2_Splice_Site_p.N688_splice	p.N873_splice	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		19	2996	-								Q6QB10|Q96CH0	Splice_Site	SNP	ENST00000525621.1	37	c.2618_splice	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827665	0.32329	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4624	0.84064	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TYK2	10326286	1.000000	0.71417	0.997000	0.53966	0.077000	0.17291	6.397000	0.73239	2.505000	0.84491	0.561000	0.74099	.		PASS	0.572	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1		Intron	7	54	7	54	---	---	---	---
ZNF136	7695	broad.mit.edu	37	19	12298398	12298398	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:12298398A>G	ENST00000343979.4	+	4	1345	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	ZNF136_ENST00000398616.2_Missense_Mutation_p.H336R	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	402					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.H402R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AAACCCTTTCATTCTCTGAGT	0.378																																						uc002mti.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1204-1206)CAT>CGT		zinc finger protein 136							73.0	68.0	70.0					19																	12298398		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298398A>G	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1205A>G	19.37:g.12298398A>G	ENSP00000344162:p.His402Arg					ZNF136_uc010xmh.1_Missense_Mutation_p.H336R	p.H402R	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	1305	+			402			C2H2-type 10.			Missense_Mutation	SNP	ENST00000343979.4	37	c.1205A>G	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	A	9.445	1.089156	0.20390	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.06849	3.25;3.25	1.4	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.00583	-1.355	0.09310	N	1	P	0.39216	0.664	B	0.38562	0.276	T	0.23511	-1.0186	8	.	.	.	.	0.8718	0.01216	0.2625:0.1862:0.3666:0.1847	.	402	P52737	ZN136_HUMAN	R	402;336	ENSP00000344162:H402R;ENSP00000381617:H336R	.	H	+	2	0	ZNF136	12159398	.	.	0.000000	0.03702	0.996000	0.88848	.	.	-0.782000	0.04541	0.533000	0.62120	CAT		PASS	0.378	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		18	33	18	33	---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24310330	24310330	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:24310330A>G	ENST00000357002.4	+	4	1643	c.1528A>G	c.(1528-1530)Ata>Gta	p.I510V	ZNF254_ENST00000342944.6_Missense_Mutation_p.I425V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	510					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I510V(1)					all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TACACATAAGATAATTCATAC	0.378																																						uc002nru.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1528-1530)ATA>GTA		zinc finger protein 254							54.0	57.0	56.0					19																	24310330		2194	4288	6482	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310330A>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1528A>G	19.37:g.24310330A>G	ENSP00000349494:p.Ile510Val					ZNF254_uc010xrk.1_Missense_Mutation_p.I425V	p.I510V	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	1662	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	510			C2H2-type 11.		A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1528A>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	A	0.564	-0.844166	0.02671	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.18338	2.22;2.22	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.12182	0.205	0.09310	N	1	B	0.32409	0.37	B	0.29862	0.108	T	0.28996	-1.0026	9	0.52906	T	0.07	.	5.9783	0.19393	1.0:0.0:0.0:0.0	.	510	O75437	ZN254_HUMAN	V	425;510	ENSP00000445527:I425V;ENSP00000349494:I510V	ENSP00000445527:I425V	I	+	1	0	ZNF254	24102170	0.000000	0.05858	0.170000	0.22879	0.550000	0.35303	-1.827000	0.01704	0.446000	0.26666	0.254000	0.18369	ATA		PASS	0.378	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		23	35	23	35	---	---	---	---
ZNF507	22847	broad.mit.edu	37	19	32844195	32844195	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:32844195G>C	ENST00000311921.4	+	2	651	c.459G>C	c.(457-459)gtG>gtC	p.V153V	ZNF507_ENST00000544431.1_Silent_p.V153V|ZNF507_ENST00000355898.5_Silent_p.V153V	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	153					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.V153V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					AAAATGAAGTGATACTGATGT	0.418																																						uc002nte.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(457-459)GTG>GTC		zinc finger protein 507							96.0	87.0	90.0					19																	32844195		2203	4300	6503	SO:0001819	synonymous_variant	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844195G>C	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.459G>C	19.37:g.32844195G>C						ZNF507_uc002ntc.2_Silent_p.V153V|ZNF507_uc010xrn.1_Silent_p.V153V|ZNF507_uc002ntd.2_Silent_p.V153V	p.V153V	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	731	+	Esophageal squamous(110;0.162)		153					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	ENST00000311921.4	37	c.459G>C	CCDS32985.1																																																																																				PASS	0.418	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		9	121	9	121	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33586724	33586724	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:33586724G>C	ENST00000170564.2	+	6	924	c.610G>C	c.(610-612)Gag>Cag	p.E204Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	204					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.E204Q(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGAAGGATCTGAGGTATTGCA	0.413																																					Pancreas(67;88 1713 4567 18227)	uc002nug.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(610-612)GAG>CAG		G patch domain containing 1							158.0	158.0	158.0					19																	33586724		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33586724G>C	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.610G>C	19.37:g.33586724G>C	ENSP00000170564:p.Glu204Gln						p.E204Q	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			6	924	+	Esophageal squamous(110;0.137)		204					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.610G>C	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941639	0.34283	.	.	ENSG00000076650	ENST00000170564	T	0.13657	2.57	5.83	3.66	0.41972	.	0.096373	0.64402	N	0.000001	T	0.14830	0.0358	M	0.66939	2.045	0.80722	D	1	B	0.28378	0.209	B	0.20767	0.031	T	0.02901	-1.1096	10	0.36615	T	0.2	-21.2605	10.544	0.45050	0.0718:0.1339:0.7943:0.0	.	204	Q9BRR8	GPTC1_HUMAN	Q	204	ENSP00000170564:E204Q	ENSP00000170564:E204Q	E	+	1	0	GPATCH1	38278564	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	4.664000	0.61540	0.758000	0.33059	0.563000	0.77884	GAG		PASS	0.413	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		10	179	10	179	---	---	---	---
CHST8	64377	broad.mit.edu	37	19	34263690	34263690	+	Missense_Mutation	SNP	C	C	T	rs368093515		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:34263690C>T	ENST00000262622.4	+	4	1755	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W	CHST8_ENST00000434302.1_Missense_Mutation_p.R333W|CHST8_ENST00000438847.3_Missense_Mutation_p.R333W	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	333					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.R333W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCATGTCAGCCGGCTCTGCAG	0.632																																						uc002nus.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(997-999)CGG>TGG		carbohydrate (N-acetylgalactosamine 4-0)		C	TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	55.0	61.0		997,997,997	2.7	1.0	19		61	0,8600		0,0,4300	no	missense,missense,missense	CHST8	NM_001127895.1,NM_001127896.1,NM_022467.3	101,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	333/425,333/425,333/425	34263690	1,13005	2203	4300	6503	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263690C>T	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.997C>T	19.37:g.34263690C>T	ENSP00000262622:p.Arg333Trp					CHST8_uc002nut.3_Missense_Mutation_p.R333W|CHST8_uc002nuu.2_Missense_Mutation_p.R333W	p.R333W	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1502	+	Esophageal squamous(110;0.162)		333			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.997C>T	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382955	0.61845	2.27E-4	0.0	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74315	-0.83;-0.83;-0.83	5.01	2.72	0.32119	.	0.071929	0.53938	D	0.000047	T	0.80193	0.4578	L	0.52573	1.65	0.36524	D	0.87035	D	0.89917	1.0	D	0.77557	0.99	T	0.82800	-0.0278	10	0.52906	T	0.07	-16.8165	10.7227	0.46050	0.602:0.398:0.0:0.0	.	333	Q9H2A9	CHST8_HUMAN	W	333	ENSP00000392604:R333W;ENSP00000393879:R333W;ENSP00000262622:R333W	ENSP00000262622:R333W	R	+	1	2	CHST8	38955530	0.998000	0.40836	0.998000	0.56505	0.804000	0.45430	1.124000	0.31320	1.066000	0.40716	0.297000	0.19635	CGG		PASS	0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		43	36	43	36	---	---	---	---
HAUS5	23354	broad.mit.edu	37	19	36113809	36113809	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:36113809G>C	ENST00000203166.5	+	19	1841	c.1816G>C	c.(1816-1818)Gag>Cag	p.E606Q	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	606					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E606Q(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CGCCCTCTCTGAGGAGCTCTG	0.657																																						uc002oam.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1816-1818)GAG>CAG		HAUS augmin-like complex, subunit 5							39.0	41.0	40.0					19																	36113809		1915	4130	6045	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113809G>C	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1816G>C	19.37:g.36113809G>C	ENSP00000439056:p.Glu606Gln						p.E606Q	NM_015302	NP_056117	O94927	HAUS5_HUMAN			19	1867	+			606					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1816G>C	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	g	4.232	0.041991	0.08196	.	.	ENSG00000249115	ENST00000203166	T	0.32988	1.43	5.09	0.632	0.17705	.	0.430511	0.24307	N	0.039673	T	0.24586	0.0596	L	0.47716	1.5	0.09310	N	1	B	0.26195	0.144	B	0.30782	0.12	T	0.18335	-1.0340	10	0.42905	T	0.14	-2.6591	7.1785	0.25760	0.3583:0.0:0.6417:0.0	.	606	O94927	HAUS5_HUMAN	Q	606	ENSP00000439056:E606Q	ENSP00000439056:E606Q	E	+	1	0	HAUS5	40805649	0.204000	0.23447	0.004000	0.12327	0.000000	0.00434	3.392000	0.52537	0.076000	0.16826	-0.922000	0.02736	GAG		PASS	0.657	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			10	101	10	101	---	---	---	---
IGFLR1	79713	broad.mit.edu	37	19	36230525	36230525	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:36230525G>T	ENST00000592537.1	-	5	824	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	IGFLR1_ENST00000246532.1_Missense_Mutation_p.L242M|IGFLR1_ENST00000344990.3_Missense_Mutation_p.L54M|AD000671.6_ENST00000589807.1_3'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000592889.1_Missense_Mutation_p.L54M|IGFLR1_ENST00000588992.1_Missense_Mutation_p.L74M|IGFLR1_ENST00000587101.1_5'Flank			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L242M(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AGACTGGACAGTTCTGGAAGA	0.627																																						uc002obc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)CTG>ATG		transmembrane protein 149 precursor							44.0	48.0	47.0					19																	36230525		2203	4299	6502	SO:0001583	missense	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230525G>T	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.724C>A	19.37:g.36230525G>T	ENSP00000466181:p.Leu242Met					TMEM149_uc002obb.2_Missense_Mutation_p.L54M|TMEM149_uc002obd.3_Missense_Mutation_p.L242M|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.L322M	p.L242M	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	825	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		242			Cytoplasmic (Potential).		Q8N5X0	Missense_Mutation	SNP	ENST00000592537.1	37	c.724C>A	CCDS12472.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380653	0.24944	.	.	ENSG00000126246	ENST00000246532;ENST00000344990	T	0.53206	0.63	4.23	-2.8	0.05823	.	0.843520	0.09943	N	0.735735	T	0.23766	0.0575	N	0.19112	0.55	0.09310	N	1	B;B	0.28291	0.206;0.026	B;B	0.24394	0.053;0.022	T	0.14448	-1.0472	10	0.39692	T	0.17	-0.0057	1.728	0.02925	0.1838:0.2945:0.371:0.1507	.	242;54	Q9H665;Q9H665-2	IGFR1_HUMAN;.	M	242;54	ENSP00000246532:L242M	ENSP00000246532:L242M	L	-	1	2	IGFLR1	40922365	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.281000	0.18810	-0.403000	0.07622	0.455000	0.32223	CTG		PASS	0.627	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		3	92	3	92	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41063031	41063031	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:41063031G>A	ENST00000352632.3	+	26	5478	c.5392G>A	c.(5392-5394)Ggc>Agc	p.G1798S	SPTBN4_ENST00000392023.1_Missense_Mutation_p.G474S|SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1798S|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1798S|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1798S|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G541S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1798					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G1798S(1)|p.G474S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GATCGAGTGTGGCCATACAGC	0.627																																						uc002ony.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5392-5394)GGC>AGC		spectrin, beta, non-erythrocytic 4 isoform							44.0	40.0	41.0					19																	41063031		2203	4299	6502	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063031G>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5392G>A	19.37:g.41063031G>A	ENSP00000263373:p.Gly1798Ser					SPTBN4_uc002onx.2_Missense_Mutation_p.G1798S|SPTBN4_uc002onz.2_Missense_Mutation_p.G1798S|SPTBN4_uc010egx.2_Missense_Mutation_p.G541S|SPTBN4_uc002ooa.2_Missense_Mutation_p.G474S	p.G1798S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5478	+			1798			Spectrin 15.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5392G>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662025	0.88251	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	3.59	3.59	0.41128	.	0.000000	0.64402	D	0.000006	T	0.69142	0.3078	M	0.68593	2.085	0.50467	D	0.999879	P;D;D;D	0.89917	0.935;0.997;1.0;1.0	P;P;D;D	0.97110	0.785;0.905;1.0;0.989	T	0.72981	-0.4126	10	0.56958	D	0.05	.	14.5052	0.67748	0.0:0.0:1.0:0.0	.	541;474;1798;1798	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	S	1798;1798;1798;541;474	ENSP00000263373:G1798S;ENSP00000340345:G1798S;ENSP00000375879:G541S;ENSP00000375877:G474S	ENSP00000340345:G1798S	G	+	1	0	SPTBN4	45754871	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.422000	0.97458	2.004000	0.58718	0.455000	0.32223	GGC		PASS	0.627	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			41	22	41	22	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594860	41594860	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:41594860C>T	ENST00000330436.3	+	2	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	69					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F69F(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCCCTGTGTTCACCATTCACT	0.622																																						uc002opt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(205-207)TTC>TTT		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						91.0	84.0	87.0					19																	41594860		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594860C>T	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.207C>T	19.37:g.41594860C>T							p.F69F	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			2	216	+			69					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.207C>T	CCDS12571.1																																																																																				PASS	0.622	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		7	127	7	127	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46807269	46807269	+	Silent	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:46807269C>G	ENST00000377670.4	+	2	172	c.141C>G	c.(139-141)gtC>gtG	p.V47V	HIF3A_ENST00000244303.6_Nonsense_Mutation_p.S27*|HIF3A_ENST00000300862.3_Silent_p.V45V|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000472815.1_Nonsense_Mutation_p.S27*|HIF3A_ENST00000420102.2_Nonsense_Mutation_p.S45*|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000600383.1_Nonsense_Mutation_p.S27*	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.V45V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCGCGGCGTCAGCGCCCACC	0.697																																						uc002peh.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(139-141)GTC>GTG		hypoxia inducible factor 3, alpha subunit							11.0	13.0	13.0					19																	46807269		2190	4285	6475	SO:0001819	synonymous_variant	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46807269C>G	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.141C>G	19.37:g.46807269C>G						HIF3A_uc002pef.1_Silent_p.V47V|HIF3A_uc002peg.3_Silent_p.V47V|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_5'UTR|HIF3A_uc002pej.1_Nonsense_Mutation_p.S27*|HIF3A_uc002pek.2_5'UTR|HIF3A_uc010xxy.1_Nonsense_Mutation_p.S27*|HIF3A_uc002pel.2_Silent_p.V45V|HIF3A_uc010xxz.1_Nonsense_Mutation_p.S45*	p.V47V	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	2	170	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	47			Helix-loop-helix motif.		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Silent	SNP	ENST00000377670.4	37	c.141C>G	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	36	5.805091	0.96967	.	.	ENSG00000124440	ENST00000457865;ENST00000244303;ENST00000533145;ENST00000457771;ENST00000420102	.	.	.	4.68	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0904	0.59164	0.0:0.8378:0.1622:0.0	.	.	.	.	X	27;27;27;27;45	.	ENSP00000244303:S27X	S	+	2	0	HIF3A	51499109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.503000	0.45407	1.325000	0.45301	0.563000	0.77884	TCA		PASS	0.697	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			2	16	2	16	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47422627	47422627	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:47422627C>A	ENST00000404338.3	+	1	695	c.695C>A	c.(694-696)tCc>tAc	p.S232Y		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	232					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.S232Y(2)									TCAGCGAGATCCAATGTAAAC	0.433																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(694-696)TCC>TAC		glucocorticoid receptor DNA binding factor 1							104.0	103.0	103.0					19																	47422627		1922	4137	6059	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422627C>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.695C>A	19.37:g.47422627C>A	ENSP00000385720:p.Ser232Tyr						p.S232Y	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	695	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	232					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.695C>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362717	0.41902	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.80653	-1.4	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	L	0.60957	1.885	0.58432	D	0.999999	D	0.61697	0.99	P	0.47206	0.541	D	0.84082	0.0385	10	0.62326	D	0.03	-28.7465	18.9906	0.92789	0.0:1.0:0.0:0.0	.	232	Q9NRY4-2	.	Y	232	ENSP00000385720:S232Y	ENSP00000324820:S232Y	S	+	2	0	ARHGAP35	52114467	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.964000	0.56780	2.780000	0.95670	0.655000	0.94253	TCC		PASS	0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		14	126	14	126	---	---	---	---
ARHGAP35	2909	broad.mit.edu	37	19	47425500	47425500	+	Missense_Mutation	SNP	G	G	C	rs201142084		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:47425500G>C	ENST00000404338.3	+	1	3568	c.3568G>C	c.(3568-3570)Gag>Cag	p.E1190Q		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1190					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.E1190Q(2)									CCGGAAGAAAGAGGAGGATCA	0.562																																						uc010ekv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(3568-3570)GAG>CAG		glucocorticoid receptor DNA binding factor 1		G	GLN/GLU	0,4000		0,0,2000	52.0	53.0	53.0		3568	5.6	1.0	19		53	1,8367		0,1,4183	no	missense	ARHGAP35	NM_004491.4	29	0,1,6183	CC,CG,GG		0.012,0.0,0.0081	benign	1190/1500	47425500	1,12367	2000	4184	6184	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47425500G>C	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3568G>C	19.37:g.47425500G>C	ENSP00000385720:p.Glu1190Gln						p.E1190Q	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	3568	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1190					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.3568G>C	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.272819	0.40194	0.0	1.2E-4	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08008	3.14	5.6	5.6	0.85130	.	0.154834	0.64402	D	0.000017	T	0.10165	0.0249	L	0.38175	1.15	0.46901	D	0.99924	B	0.02656	0.0	B	0.10450	0.005	T	0.09357	-1.0678	10	0.48119	T	0.1	-40.8315	18.3745	0.90431	0.0:0.0:1.0:0.0	.	1190	Q9NRY4-2	.	Q	1190	ENSP00000385720:E1190Q	ENSP00000324820:E1190Q	E	+	1	0	ARHGAP35	52117340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.049000	0.64244	2.644000	0.89710	0.655000	0.94253	GAG		PASS	0.562	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		4	67	4	67	---	---	---	---
NAPA	8775	broad.mit.edu	37	19	48018127	48018127	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:48018127G>C	ENST00000263354.3	-	1	370	c.71C>G	c.(70-72)tCg>tGg	p.S24W	NAPA_ENST00000595227.1_Missense_Mutation_p.S24W|NAPA_ENST00000593785.1_5'UTR	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	24					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.S24W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GAAGGACTGCGAGTTCTTCAC	0.642																																					Ovarian(185;1135 2042 27703 31345 42493)	uc002pha.1																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)TCG>TGG		N-ethylmaleimide-sensitive factor attachment							67.0	57.0	60.0					19																	48018127		2203	4300	6503	SO:0001583	missense	8775				cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol		g.chr19:48018127G>C	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.71C>G	19.37:g.48018127G>C	ENSP00000263354:p.Ser24Trp					NAPA_uc002phb.1_Missense_Mutation_p.S24W|NAPA_uc002phc.1_5'UTR|NAPA_uc002phd.1_Missense_Mutation_p.S24W|NAPA_uc010elf.1_5'UTR|NAPA_uc010elg.1_RNA|NAPA_uc002phe.2_Missense_Mutation_p.S24W	p.S24W	NM_003827	NP_003818	P54920	SNAA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)	1	371	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	24					A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	ENST00000263354.3	37	c.71C>G	CCDS12702.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990867	0.74703	.	.	ENSG00000105402	ENST00000263354	T	0.77877	-1.13	5.18	5.18	0.71444	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.88980	0.6585	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88921	0.3366	10	0.37606	T	0.19	1.011	14.1856	0.65603	0.0:0.0:1.0:0.0	.	24	P54920	SNAA_HUMAN	W	24	ENSP00000263354:S24W	ENSP00000263354:S24W	S	-	2	0	NAPA	52709939	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.741000	0.68638	2.438000	0.82558	0.484000	0.47621	TCG		PASS	0.642	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466048.2	NM_003827		25	25	25	25	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48204587	48204587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:48204587G>T	ENST00000396720.3	+	15	3792	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1200								p.E1200*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TTCTGCAGACGAGTACGTGTC	0.657																																						uc002phh.3																			1	Substitution - Nonsense(1)		lung(1)	pancreas(3)	3						c.(3598-3600)GAG>TAG		glioma tumor suppressor candidate region gene 1							17.0	20.0	19.0					19																	48204587		2014	4140	6154	SO:0001587	stop_gained	29998						protein binding	g.chr19:48204587G>T	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3598G>T	19.37:g.48204587G>T	ENSP00000379946:p.Glu1200*					GLTSCR1_uc002phi.3_Nonsense_Mutation_p.E958*	p.E1200*	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	3792	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1200					A8MW01	Nonsense_Mutation	SNP	ENST00000396720.3	37	c.3598G>T	CCDS46134.1	.	.	.	.	.	.	.	.	.	.	G	39	7.559655	0.98358	.	.	ENSG00000063169	ENST00000396720	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	14.1173	0.65161	0.0:0.0:1.0:0.0	.	.	.	.	X	1200	.	ENSP00000379946:E1200X	E	+	1	0	GLTSCR1	52896399	1.000000	0.71417	0.950000	0.38849	0.042000	0.13812	5.558000	0.67319	1.834000	0.53371	0.462000	0.41574	GAG		PASS	0.657	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		13	21	13	21	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49632235	49632235	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:49632235C>G	ENST00000334186.4	+	4	822	c.473C>G	c.(472-474)tCt>tGt	p.S158C	PPFIA3_ENST00000602351.1_Missense_Mutation_p.S158C	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	158					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.S158C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GCTCTAAAGTCTCTCTTCGAG	0.562																																						uc002pmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(472-474)TCT>TGT		PTPRF interacting protein alpha 3							51.0	54.0	53.0					19																	49632235		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49632235C>G	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.473C>G	19.37:g.49632235C>G	ENSP00000335614:p.Ser158Cys					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.S82C|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.S26C	p.S158C	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	4	805	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	158					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.473C>G	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206116	0.95033	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.53206	0.63	4.74	4.74	0.60224	.	0.000000	0.47455	D	0.000232	T	0.57344	0.2047	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.62134	-0.6918	10	0.87932	D	0	-13.5816	17.0217	0.86435	0.0:1.0:0.0:0.0	.	82;158;158	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	C	158;82	ENSP00000335614:S158C	ENSP00000335614:S158C	S	+	2	0	PPFIA3	54324047	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.585000	0.82584	2.646000	0.89796	0.563000	0.77884	TCT		PASS	0.562	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		3	78	3	78	---	---	---	---
PRMT1	3276	broad.mit.edu	37	19	50185235	50185235	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:50185235C>T	ENST00000391851.4	+	3	336	c.207C>T	c.(205-207)ttC>ttT	p.F69F	MIR5088_ENST00000581740.1_RNA|PRMT1_ENST00000532489.1_Silent_p.F41F|PRMT1_ENST00000454376.2_Silent_p.F87F	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	77	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.F63F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GGCACCTCTTCAAGGACAAGG	0.612																																						uc010enf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(259-261)TTC>TTT		HMT1 hnRNP methyltransferase-like 2 isoform 1							64.0	54.0	58.0					19																	50185235		2203	4300	6503	SO:0001819	synonymous_variant	3276					cytoplasm	protein methyltransferase activity	g.chr19:50185235C>T	D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.207C>T	19.37:g.50185235C>T						PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Silent_p.F63F|PRMT1_uc002ppe.2_Silent_p.F69F|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Silent_p.F34F|PRMT1_uc010yba.1_RNA	p.F87F	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)	4	303	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	68					B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Silent	SNP	ENST00000391851.4	37	c.261C>T	CCDS42592.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448305	0.26074	.	.	ENSG00000126457	ENST00000524771	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	T	0.60366	0.2263	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57642	-0.7776	4	.	.	.	-11.7145	9.3167	0.37939	0.0:0.9049:0.0:0.0951	.	.	.	.	L	97	.	.	S	+	2	0	PRMT1	54877047	0.997000	0.39634	1.000000	0.80357	0.953000	0.61014	0.579000	0.23788	2.629000	0.89072	0.643000	0.83706	TCA		PASS	0.612	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395065.1	NM_001536		4	59	4	59	---	---	---	---
ZNF581	51545	broad.mit.edu	37	19	56156399	56156399	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:56156399C>G	ENST00000587252.1	+	2	735	c.462C>G	c.(460-462)ttC>ttG	p.F154L	ZNF581_ENST00000588537.1_Missense_Mutation_p.F154L|ZNF581_ENST00000270451.5_Missense_Mutation_p.F154L			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	154					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.F154L(1)		large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCGCCGCTTCCGGGATGCGG	0.677																																						uc002qln.2																			1	Substitution - Missense(1)		lung(1)		0						c.(460-462)TTC>TTG		zinc finger protein 581							43.0	48.0	47.0					19																	56156399		2203	4296	6499	SO:0001583	missense	51545				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56156399C>G	AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425		"""Zinc fingers, C2H2-type"""	25017	protein-coding gene	gene with protein product						11042152	Standard	NM_016535		Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.462C>G	19.37:g.56156399C>G	ENSP00000466047:p.Phe154Leu					ZNF581_uc002qlq.2_Missense_Mutation_p.F154L|CCDC106_uc002qlr.2_5'Flank	p.F154L	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	1178	+		Ovarian(87;0.133)	154			C2H2-type 3.		B2RDM6	Missense_Mutation	SNP	ENST00000587252.1	37	c.462C>G	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345172	0.82022	.	.	ENSG00000171425	ENST00000270451	T	0.46063	0.88	3.52	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.68970	0.3059	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73020	-0.4114	9	0.87932	D	0	.	9.1563	0.36994	0.0:0.8838:0.0:0.1162	.	154	Q9P0T4	ZN581_HUMAN	L	154	ENSP00000270451:F154L	ENSP00000270451:F154L	F	+	3	2	ZNF581	60848211	0.918000	0.31147	0.124000	0.21820	0.987000	0.75469	1.283000	0.33237	0.806000	0.34183	0.407000	0.27541	TTC		PASS	0.677	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453430.1	NM_016535		6	151	6	151	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56467201	56467201	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:56467201C>T	ENST00000291971.3	+	3	1848	c.1777C>T	c.(1777-1779)Ctg>Ttg	p.L593L	NLRP8_ENST00000590542.1_Silent_p.L593L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	593					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.L593L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGTCATACCTCTGTTGCATAA	0.507																																						uc002qmh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(1777-1779)CTG>TTG		NLR family, pyrin domain containing 8							52.0	48.0	49.0					19																	56467201		2203	4300	6503	SO:0001819	synonymous_variant	126205					cytoplasm	ATP binding	g.chr19:56467201C>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1777C>T	19.37:g.56467201C>T						NLRP8_uc010etg.2_Silent_p.L593L	p.L593L	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1848	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	593					Q7RTR4	Silent	SNP	ENST00000291971.3	37	c.1777C>T	CCDS12937.1																																																																																				PASS	0.507	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		3	69	3	69	---	---	---	---
ZNF418	147686	broad.mit.edu	37	19	58437712	58437712	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr19:58437712G>T	ENST00000396147.1	-	4	2128	c.1837C>A	c.(1837-1839)Cat>Aat	p.H613N	ZNF418_ENST00000595830.1_Missense_Mutation_p.H613N|ZNF418_ENST00000425570.3_Missense_Mutation_p.H634N|ZNF418_ENST00000599852.1_Missense_Mutation_p.H528N|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	613					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.H613N(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)		CCTCGAGTATGAAGTCTCTGA	0.453																																						uc002qqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1837-1839)CAT>AAT		zinc finger protein 418							107.0	110.0	109.0					19																	58437712		2198	4298	6496	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437712G>T	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.1837C>A	19.37:g.58437712G>T	ENSP00000379451:p.His613Asn					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H528N	p.H613N	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	2129	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	613			C2H2-type 14.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1837C>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	19.89	3.910171	0.72983	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.67345	-0.26;-0.26	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85048	0.5608	H	0.94582	3.555	0.28293	N	0.923468	D	0.76494	0.999	D	0.73380	0.98	T	0.77800	-0.2452	9	0.87932	D	0	.	11.8948	0.52650	0.0:0.0:1.0:0.0	.	613	Q8TF45	ZN418_HUMAN	N	613;634;579	ENSP00000379451:H613N;ENSP00000407039:H634N	ENSP00000379451:H613N	H	-	1	0	ZNF418	63129524	1.000000	0.71417	0.011000	0.14972	0.418000	0.31294	8.280000	0.89903	1.346000	0.45694	0.313000	0.20887	CAT		PASS	0.453	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		24	97	24	97	---	---	---	---
DEFB125	245938	broad.mit.edu	37	20	76774	76774	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:76774G>A	ENST00000382410.2	+	2	187	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	DEFB125_ENST00000608838.1_3'UTR	NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	63					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.E63K(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			AATATCACATGAATATACTCG	0.368																																						uc002wcw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(187-189)GAA>AAA		defensin, beta 125 preproprotein							184.0	174.0	177.0					20																	76774		2203	4300	6503	SO:0001583	missense	245938				defense response to bacterium	extracellular region		g.chr20:76774G>A	AA935636	CCDS12989.2	20p13	2008-07-17			ENSG00000178591	ENSG00000178591		"""Defensins, beta"""	18105	protein-coding gene	gene with protein product	"""beta defensin 25"""					11854508	Standard	NM_153325		Approved	DEFB-25	uc002wcw.3	Q8N687	OTTHUMG00000031614	ENST00000382410.2:c.187G>A	20.37:g.76774G>A	ENSP00000371847:p.Glu63Lys						p.E63K	NM_153325	NP_697020	Q8N687	DB125_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.156)		2	187	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	63					A1A502|Q7Z7B9	Missense_Mutation	SNP	ENST00000382410.2	37	c.187G>A	CCDS12989.2	.	.	.	.	.	.	.	.	.	.	.	11.10	1.539661	0.27563	.	.	ENSG00000178591	ENST00000382410	T	0.11821	2.74	3.49	1.46	0.22682	.	1.833950	0.02946	N	0.141078	T	0.09335	0.0230	N	0.19112	0.55	0.09310	N	1	P	0.47409	0.895	B	0.38056	0.264	T	0.23511	-1.0186	10	0.49607	T	0.09	-0.0705	5.5862	0.17275	0.0:0.2276:0.5442:0.2282	.	63	Q8N687	DB125_HUMAN	K	63	ENSP00000371847:E63K	ENSP00000371847:E63K	E	+	1	0	DEFB125	24774	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.231000	0.09069	0.442000	0.26555	0.655000	0.94253	GAA		PASS	0.368	DEFB125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077426.2	NM_153325		16	172	16	172	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1961213	1961213	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:1961213C>T	ENST00000217305.2	-	4	746	c.521G>A	c.(520-522)cGc>cAc	p.R174H	PDYN_ENST00000539905.1_Missense_Mutation_p.R174H|PDYN_ENST00000540134.1_Missense_Mutation_p.R174H|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	174					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R174H(3)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCCCCATAGCGTTTGACCTG	0.582																																						uc010gaj.2																			3	Substitution - Missense(3)		prostate(1)|large_intestine(1)|lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(520-522)CGC>CAC		beta-neoendorphin-dynorphin preproprotein							103.0	105.0	104.0					20																	1961213		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961213C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.521G>A	20.37:g.1961213C>T	ENSP00000217305:p.Arg174His					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R174H|PDYN_uc010zpt.1_Missense_Mutation_p.R19H	p.R174H	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	763	-			174					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.521G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563282	0.86335	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.89050	-2.46;-2.46;-2.46	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94621	0.8266	M	0.85197	2.74	0.58432	D	0.999999	D	0.89917	1.0	D	0.81914	0.995	D	0.94944	0.8094	10	0.59425	D	0.04	-18.3393	15.5233	0.75881	0.0:1.0:0.0:0.0	.	174	P01213	PDYN_HUMAN	H	174	ENSP00000440185:R174H;ENSP00000442259:R174H;ENSP00000217305:R174H	ENSP00000217305:R174H	R	-	2	0	PDYN	1909213	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.270000	0.58896	2.531000	0.85337	0.491000	0.48974	CGC		PASS	0.582	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			26	84	26	84	---	---	---	---
BPIFB2	80341	broad.mit.edu	37	20	31598853	31598853	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:31598853C>T	ENST00000170150.3	+	3	328	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	45						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.L45F(1)									GAAAGCCCCTCTCCAGCGGGC	0.607																																						uc002wyj.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(133-135)CTC>TTC		bactericidal/permeability-increasing							112.0	100.0	104.0					20																	31598853		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31598853C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.133C>T	20.37:g.31598853C>T	ENSP00000170150:p.Leu45Phe						p.L45F	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			3	327	+			45					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.133C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236518	0.39498	.	.	ENSG00000078898	ENST00000170150	T	0.11604	2.76	4.51	4.51	0.55191	.	0.168458	0.28453	N	0.015289	T	0.19685	0.0473	N	0.24115	0.695	0.35178	D	0.772185	D	0.89917	1.0	D	0.91635	0.999	T	0.15350	-1.0440	10	0.72032	D	0.01	-21.1452	13.4376	0.61092	0.0:1.0:0.0:0.0	.	45	Q8N4F0	BPIB2_HUMAN	F	45	ENSP00000170150:L45F	ENSP00000170150:L45F	L	+	1	0	BPIFB2	31062514	0.996000	0.38824	0.995000	0.50966	0.814000	0.46013	2.302000	0.43637	2.429000	0.82318	0.462000	0.41574	CTC		PASS	0.607	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		20	122	20	122	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40080608	40080608	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:40080608C>T	ENST00000373233.3	-	22	3558	c.3381G>A	c.(3379-3381)gaG>gaA	p.E1127E	CHD6_ENST00000309279.7_Silent_p.E610E	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1127					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.E1127E(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCATGTCCTTCTCGTTCAGAT	0.517																																						uc002xka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3379-3381)GAG>GAA		chromodomain helicase DNA binding protein 6							164.0	135.0	145.0					20																	40080608		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40080608C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3381G>A	20.37:g.40080608C>T							p.E1127E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			22	3559	-		Myeloproliferative disorder(115;0.00425)	1127					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.3381G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	9.758	1.169320	0.21621	.	.	ENSG00000124177	ENST00000440697	.	.	.	5.79	2.4	0.29515	.	.	.	.	.	T	0.61502	0.2352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58769	-0.7578	4	.	.	.	-28.6255	11.5604	0.50774	0.0:0.7257:0.0:0.2743	.	.	.	.	K	313	.	.	R	-	2	0	CHD6	39514022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.557000	0.36299	0.804000	0.34136	0.650000	0.86243	AGA		PASS	0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			6	111	6	111	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713386	40713386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:40713386G>A	ENST00000373187.1	-	29	4071	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R1348*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R1361*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R1368*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R1377*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R1367*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R1357*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1358	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.R1380*(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCCAGTCGTCGGACCACTTTG	0.597																																						uc002xkg.2																			1	Substitution - Nonsense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(4072-4074)CGA>TGA		protein tyrosine phosphatase, receptor type, T							53.0	60.0	57.0					20																	40713386		2034	4171	6205	SO:0001587	stop_gained	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713386G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4072C>T	20.37:g.40713386G>A	ENSP00000362283:p.Arg1358*					PTPRT_uc010ggj.2_Nonsense_Mutation_p.R1377*|PTPRT_uc010ggi.2_Nonsense_Mutation_p.R561*	p.R1358*	NM_007050	NP_008981	O14522	PTPRT_HUMAN			29	4256	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1358			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	ENST00000373187.1	37	c.4072C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	44	10.987074	0.99499	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.55	4.59	0.56863	.	0.221448	0.35525	N	0.003147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7018	0.62613	0.0:0.0:0.6658:0.3342	.	.	.	.	X	1357;1358;1361;1367;1380;1368;1348	.	ENSP00000348408:R1367X	R	-	1	2	PTPRT	40146800	0.954000	0.32549	1.000000	0.80357	0.994000	0.84299	0.676000	0.25247	1.549000	0.49425	0.655000	0.94253	CGA		PASS	0.597	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			11	42	11	42	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43034759	43034759	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:43034759G>C	ENST00000316099.4	+	2	266	c.177G>C	c.(175-177)ctG>ctC	p.L59L	MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Silent_p.L59L|HNF4A_ENST00000457232.1_Silent_p.L37L|HNF4A_ENST00000415691.2_Silent_p.L59L|HNF4A_ENST00000609795.1_Silent_p.L37L|HNF4A_ENST00000316673.4_Silent_p.L37L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	59					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L59L(2)|p.L37L(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCAGCGCCCTGTGTGCCATCT	0.637																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|lung(1)|skin(1)	3						c.(175-177)CTG>CTC		hepatocyte nuclear factor 4 alpha isoform b							106.0	106.0	106.0					20																	43034759		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43034759G>C	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.177G>C	20.37:g.43034759G>C						HNF4A_uc010zwo.1_Missense_Mutation_p.C50S|HNF4A_uc002xlt.2_Silent_p.L37L|HNF4A_uc002xlu.2_Silent_p.L37L|HNF4A_uc002xlv.2_Silent_p.L37L|HNF4A_uc002xly.2_Silent_p.L59L|HNF4A_uc002xlz.2_Silent_p.L59L|HNF4A_uc010ggq.2_Silent_p.L52L	p.L59L	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	266	+		Myeloproliferative disorder(115;0.0122)	59			Nuclear receptor.		A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.177G>C	CCDS13330.1																																																																																				PASS	0.637	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			32	125	32	125	---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44505750	44505750	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:44505750G>A	ENST00000255152.2	+	2	762	c.553G>A	c.(553-555)Gat>Aat	p.D185N	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.D179N	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	185							zinc ion binding (GO:0008270)	p.D185N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCTTAAGGTAGATGAGGGTTC	0.517																																						uc002xqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(553-555)GAT>AAT		zinc finger, SWIM domain containing 3							191.0	148.0	162.0					20																	44505750		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44505750G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.553G>A	20.37:g.44505750G>A	ENSP00000255152:p.Asp185Asn					ZSWIM3_uc010zxg.1_Missense_Mutation_p.D179N	p.D185N	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	756	+		Myeloproliferative disorder(115;0.0122)	185					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.553G>A	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721556	0.68959	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.26223	1.76;1.75	5.49	4.55	0.56014	.	0.066287	0.64402	N	0.000009	T	0.18551	0.0445	L	0.34521	1.04	0.33915	D	0.640189	P;P	0.52316	0.952;0.822	B;B	0.40636	0.335;0.335	T	0.17806	-1.0357	10	0.13470	T	0.59	-18.9427	13.8522	0.63504	0.0733:0.0:0.9267:0.0	.	179;185	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	N	185;179	ENSP00000255152:D185N;ENSP00000406313:D179N	ENSP00000255152:D185N	D	+	1	0	ZSWIM3	43939157	0.955000	0.32602	0.887000	0.34795	0.995000	0.86356	2.676000	0.46883	1.562000	0.49601	0.655000	0.94253	GAT		PASS	0.517	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		5	141	5	141	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45905101	45905101	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:45905101G>T	ENST00000311275.7	-	11	1630	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	ZMYND8_ENST00000471951.2_Missense_Mutation_p.F479L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F454L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F479L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F454L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F486L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F454L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F459L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F396L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F479L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F459L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F454L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F459L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	459					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.F479L(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGCTCGCACTGAAGTGGCTCG	0.627																																						uc002xta.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1375-1377)TTC>TTA		zinc finger, MYND-type containing 8 isoform b							42.0	35.0	37.0					20																	45905101		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45905101G>T	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1377C>A	20.37:g.45905101G>T	ENSP00000312237:p.Phe459Leu					ZMYND8_uc010ghq.1_Missense_Mutation_p.F136L|ZMYND8_uc010ghr.1_Missense_Mutation_p.F434L|ZMYND8_uc002xst.1_Missense_Mutation_p.F434L|ZMYND8_uc002xsu.1_Missense_Mutation_p.F459L|ZMYND8_uc002xsv.1_Missense_Mutation_p.F434L|ZMYND8_uc002xsw.1_Missense_Mutation_p.F211L|ZMYND8_uc002xsx.1_Missense_Mutation_p.F211L|ZMYND8_uc002xsy.1_Missense_Mutation_p.F434L|ZMYND8_uc002xsz.1_Missense_Mutation_p.F396L|ZMYND8_uc010zxy.1_Missense_Mutation_p.F486L|ZMYND8_uc002xtb.1_Missense_Mutation_p.F479L|ZMYND8_uc002xss.2_Missense_Mutation_p.F459L|ZMYND8_uc010zxz.1_Missense_Mutation_p.F454L|ZMYND8_uc002xtc.1_Missense_Mutation_p.F479L|ZMYND8_uc002xtd.1_Missense_Mutation_p.F454L|ZMYND8_uc002xte.1_Missense_Mutation_p.F459L|ZMYND8_uc010zya.1_Missense_Mutation_p.F459L|ZMYND8_uc002xtf.1_Missense_Mutation_p.F479L|ZMYND8_uc002xtg.2_Missense_Mutation_p.F453L|ZMYND8_uc010ghs.1_Missense_Mutation_p.F453L	p.F459L	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1631	-			459					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.1377C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.51|17.51	3.406788|3.406788	0.62399|0.62399	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.90620|.	-1.81;-1.7;-1.82;-1.72;-1.71;-1.7;-1.82;-1.72;-1.71;-2.7;-1.73;-1.8;-1.72|.	5.51|5.51	4.54|4.54	0.55810|0.55810	.|.	0.111193|.	0.64402|.	N|.	0.000005|.	T|T	0.48732|0.48732	0.1516|0.1516	L|L	0.47716|0.47716	1.5|1.5	0.42852|0.42852	D|D	0.994088|0.994088	P;P;P;P;P;P;P;P;P;P;P;P;P;P;P;B;P;B|.	0.50710|.	0.938;0.859;0.802;0.802;0.881;0.802;0.859;0.765;0.856;0.765;0.765;0.802;0.802;0.802;0.802;0.001;0.768;0.244|.	P;P;P;P;P;P;B;B;B;B;B;P;P;P;P;B;P;B|.	0.55749|.	0.783;0.511;0.643;0.542;0.472;0.542;0.406;0.406;0.341;0.406;0.406;0.643;0.542;0.542;0.542;0.006;0.472;0.224|.	T|T	0.46665|0.46665	-0.9175|-0.9175	10|5	0.36615|.	T|.	0.2|.	-13.3557|-13.3557	4.8323|4.8323	0.13447|0.13447	0.1847:0.1946:0.6206:0.0|0.1847:0.1946:0.6206:0.0	.|.	454;486;454;454;434;453;479;459;454;479;479;459;396;454;454;479;454;459|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	L|K	454;459;454;459;479;479;459;486;459;396;479;454;454|386	ENSP00000354166:F454L;ENSP00000312237:F459L;ENSP00000392964:F454L;ENSP00000262975:F459L;ENSP00000420095:F479L;ENSP00000335537:F479L;ENSP00000379577:F459L;ENSP00000439800:F486L;ENSP00000348246:F459L;ENSP00000396725:F396L;ENSP00000418210:F479L;ENSP00000361093:F454L;ENSP00000443086:F454L|.	ENSP00000262975:F459L|.	F|Q	-|-	3|1	2|0	ZMYND8|ZMYND8	45338508|45338508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	4.136000|4.136000	0.58004|0.58004	1.290000|1.290000	0.44636|0.44636	0.655000|0.655000	0.94253|0.94253	TTC|CAG		PASS	0.627	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		3	29	3	29	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45905323	45905323	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:45905323G>A	ENST00000311275.7	-	11	1408	c.1155C>T	c.(1153-1155)agC>agT	p.S385S	ZMYND8_ENST00000471951.2_Silent_p.S405S|ZMYND8_ENST00000360911.3_Silent_p.S380S|ZMYND8_ENST00000352431.2_Silent_p.S405S|ZMYND8_ENST00000372023.3_Silent_p.S380S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Silent_p.S412S|ZMYND8_ENST00000540497.1_Silent_p.S380S|ZMYND8_ENST00000262975.4_Silent_p.S385S|ZMYND8_ENST00000446994.2_Silent_p.S322S|ZMYND8_ENST00000461685.1_Silent_p.S405S|ZMYND8_ENST00000396281.4_Silent_p.S385S|ZMYND8_ENST00000458360.2_Silent_p.S380S|ZMYND8_ENST00000355972.4_Silent_p.S385S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	385					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)	p.S405S(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CAGTGCCGGCGCTGGGGTTGG	0.527																																						uc002xta.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1153-1155)AGC>AGT		zinc finger, MYND-type containing 8 isoform b							161.0	155.0	157.0					20																	45905323		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45905323G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1155C>T	20.37:g.45905323G>A						ZMYND8_uc010ghq.1_Silent_p.S62S|ZMYND8_uc010ghr.1_Silent_p.S360S|ZMYND8_uc002xst.1_Silent_p.S360S|ZMYND8_uc002xsu.1_Silent_p.S385S|ZMYND8_uc002xsv.1_Silent_p.S360S|ZMYND8_uc002xsw.1_Silent_p.S137S|ZMYND8_uc002xsx.1_Silent_p.S137S|ZMYND8_uc002xsy.1_Silent_p.S360S|ZMYND8_uc002xsz.1_Silent_p.S322S|ZMYND8_uc010zxy.1_Silent_p.S412S|ZMYND8_uc002xtb.1_Silent_p.S405S|ZMYND8_uc002xss.2_Silent_p.S385S|ZMYND8_uc010zxz.1_Silent_p.S380S|ZMYND8_uc002xtc.1_Silent_p.S405S|ZMYND8_uc002xtd.1_Silent_p.S380S|ZMYND8_uc002xte.1_Silent_p.S385S|ZMYND8_uc010zya.1_Silent_p.S385S|ZMYND8_uc002xtf.1_Silent_p.S405S|ZMYND8_uc002xtg.2_Silent_p.S379S|ZMYND8_uc010ghs.1_Silent_p.S379S	p.S385S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		11	1409	-			385					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.1155C>T		.	.	.	.	.	.	.	.	.	.	G	0.260	-1.000498	0.02128	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.63	-7.12	0.01537	.	.	.	.	.	T	0.53270	0.1786	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58702	-0.7590	4	.	.	.	-9.4705	11.8227	0.52247	0.6769:0.0869:0.2362:0.0	.	.	.	.	C	312	.	.	R	-	1	0	ZMYND8	45338730	0.149000	0.22717	0.035000	0.18076	0.163000	0.22366	-0.415000	0.07106	-1.611000	0.01581	-1.814000	0.00607	CGC		PASS	0.527	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		6	224	6	224	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46307536	46307536	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:46307536G>A	ENST00000359930.4	-	8	1928	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	SULF2_ENST00000484875.1_Silent_p.I359I|SULF2_ENST00000467815.1_Silent_p.I359I|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.I359I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	359					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.I359I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGTTGAGGACGATGTGGGGAT	0.632																																						uc002xto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1075-1077)ATC>ATT		sulfatase 2 isoform a precursor							88.0	81.0	84.0					20																	46307536		2203	4300	6503	SO:0001819	synonymous_variant	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46307536G>A	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1077C>T	20.37:g.46307536G>A						SULF2_uc002xtr.2_Silent_p.I359I|SULF2_uc002xtq.2_Silent_p.I359I	p.I359I	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			8	1407	-			359					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Silent	SNP	ENST00000359930.4	37	c.1077C>T	CCDS13408.1																																																																																				PASS	0.632	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		10	128	10	128	---	---	---	---
SPATA2	9825	broad.mit.edu	37	20	48524804	48524804	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:48524804C>A	ENST00000422556.1	-	2	573	c.224G>T	c.(223-225)cGc>cTc	p.R75L	SPATA2_ENST00000289431.5_Missense_Mutation_p.R75L|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	75					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.R75L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCTGAGCGAGCGCAAGGAGCT	0.597																																						uc010gie.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(223-225)CGC>CTC		spermatogenesis associated 2							81.0	71.0	75.0					20																	48524804		2203	4300	6503	SO:0001583	missense	9825				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus		g.chr20:48524804C>A	AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.224G>T	20.37:g.48524804C>A	ENSP00000416799:p.Arg75Leu					SPATA2_uc002xuw.2_Missense_Mutation_p.R75L|SPATA2_uc010zyn.1_Intron	p.R75L	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;4.03e-06)		2	574	-	Hepatocellular(150;0.133)		75					E1P626|O94857	Missense_Mutation	SNP	ENST00000422556.1	37	c.224G>T	CCDS13422.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720616	0.68959	.	.	ENSG00000158480	ENST00000289431;ENST00000422556	T;T	0.67345	-0.26;-0.26	4.38	4.38	0.52667	.	0.127355	0.46442	D	0.000282	T	0.72906	0.3519	M	0.61703	1.905	0.80722	D	1	D	0.61697	0.99	P	0.56343	0.796	T	0.74867	-0.3518	10	0.56958	D	0.05	-31.2555	11.0574	0.47927	0.0:0.9145:0.0:0.0855	.	75	Q9UM82	SPAT2_HUMAN	L	75	ENSP00000289431:R75L;ENSP00000416799:R75L	ENSP00000289431:R75L	R	-	2	0	SPATA2	47958211	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	3.510000	0.53393	2.424000	0.82194	0.655000	0.94253	CGC		PASS	0.597	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079658.1	NM_006038		30	82	30	82	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50071200	50071200	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:50071200G>A	ENST00000396009.3	-	6	1953	c.1734C>T	c.(1732-1734)ccC>ccT	p.P578P	NFATC2_ENST00000610033.1_Silent_p.P359P|NFATC2_ENST00000609943.1_Silent_p.P558P|NFATC2_ENST00000609507.1_Silent_p.P359P|NFATC2_ENST00000371564.3_Silent_p.P578P|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000414705.1_Silent_p.P558P	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	578					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P578P(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTCAACCATGGGCAGCTCGT	0.502																																						uc002xwd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1732-1734)CCC>CCT		nuclear factor of activated T-cells,							152.0	149.0	150.0					20																	50071200		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071200G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1734C>T	20.37:g.50071200G>A						NFATC2_uc002xwc.2_Silent_p.P578P|NFATC2_uc010zyv.1_Silent_p.P359P|NFATC2_uc010zyw.1_Silent_p.P359P|NFATC2_uc010zyx.1_Silent_p.P558P|NFATC2_uc010zyy.1_Silent_p.P359P|NFATC2_uc010zyz.1_Silent_p.P359P|NFATC2_uc002xwe.2_Silent_p.P558P|hsa-mir-3194|MI0014239_5'Flank	p.P578P	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			6	1954	-	Hepatocellular(150;0.248)		578					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.1734C>T	CCDS13437.1																																																																																				PASS	0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		67	190	67	190	---	---	---	---
RBM38	55544	broad.mit.edu	37	20	55967819	55967819	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:55967819G>A	ENST00000356208.5	+	2	522	c.347G>A	c.(346-348)cGg>cAg	p.R116Q	RBM38_ENST00000440234.2_Missense_Mutation_p.R116Q|RBM38_ENST00000371219.2_Missense_Mutation_p.R35Q|RP4-800J21.3_ENST00000417346.1_RNA	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	116				RS -> WC (in Ref. 4; CAA53063/CAA53064). {ECO:0000305}.	3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|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)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R116Q(1)		large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCCAAGCCGCGGAGCCTCCAG	0.627																																						uc010zzj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CGG>CAG		RNA-binding region containing protein 1 isoform							54.0	63.0	61.0					20																	55967819		1965	4173	6138	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|cytosol|nucleus|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55967819G>A	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.347G>A	20.37:g.55967819G>A	ENSP00000348538:p.Arg116Gln					RBM38_uc010zzk.1_Missense_Mutation_p.R116Q	p.R116Q	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		2	522	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		116	RS -> WC (in Ref. 4; CAA53063/CAA53064).				A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.347G>A	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827130	0.90955	.	.	ENSG00000132819	ENST00000356208;ENST00000440234;ENST00000371219	T;T;T	0.26957	2.29;2.05;1.7	5.11	5.11	0.69529	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.39410	0.1077	M	0.75777	2.31	0.80722	D	1	D	0.55605	0.972	P	0.46975	0.533	T	0.43212	-0.9405	10	0.56958	D	0.05	0.0018	18.1285	0.89593	0.0:0.0:1.0:0.0	.	116	Q9H0Z9	RBM38_HUMAN	Q	116;116;35	ENSP00000348538:R116Q;ENSP00000407848:R116Q;ENSP00000360263:R35Q	ENSP00000345248:R93Q	R	+	2	0	RBM38	55401225	1.000000	0.71417	0.634000	0.29324	0.864000	0.49448	9.123000	0.94387	2.364000	0.80123	0.655000	0.94253	CGG		PASS	0.627	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		15	96	15	96	---	---	---	---
ZBP1	81030	broad.mit.edu	37	20	56186895	56186895	+	Silent	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:56186895G>A	ENST00000371173.3	-	6	939	c.762C>T	c.(760-762)atC>atT	p.I254I	ZBP1_ENST00000395822.3_Silent_p.I179I|ZBP1_ENST00000340462.4_Silent_p.I231I|ZBP1_ENST00000343535.4_Silent_p.I254I	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	254					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.I254I(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCTCCATGTGGATGTCCTGGG	0.647																																						uc002xyo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(760-762)ATC>ATT		Z-DNA binding protein 1 isoform a							34.0	31.0	32.0					20																	56186895		2202	4300	6502	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186895G>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.762C>T	20.37:g.56186895G>A						ZBP1_uc010gjm.2_Silent_p.I253I|ZBP1_uc002xyp.2_Silent_p.I179I	p.I254I	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		6	1043	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		254			RIP homotypic interaction motif (RHIM) 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.762C>T	CCDS13461.1																																																																																				PASS	0.647	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		6	17	6	17	---	---	---	---
UCKL1	54963	broad.mit.edu	37	20	62571824	62571824	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr20:62571824C>T	ENST00000354216.6	-	13	1359	c.1317G>A	c.(1315-1317)agG>agA	p.R439R	UCKL1_ENST00000369908.5_Silent_p.R424R|UCKL1_ENST00000369892.3_Silent_p.R439R|UCKL1_ENST00000358711.3_3'UTR|MIR1914_ENST00000607800.1_RNA|MIR647_ENST00000384823.1_RNA	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	439					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)	p.R439R(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTTGGGCAGCCTCAGGTAGT	0.677																																						uc010gkn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1315-1317)AGG>AGA		uridine-cytidine kinase 1-like 1							35.0	32.0	33.0					20																	62571824		2192	4294	6486	SO:0001819	synonymous_variant	54963				interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	g.chr20:62571824C>T	AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.1317G>A	20.37:g.62571824C>T						UCKL1_uc002yhj.2_Silent_p.R82R|UCKL1_uc011abm.1_Silent_p.R424R|UCKL1_uc011abn.1_RNA	p.R439R	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN			13	1360	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		439					B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Silent	SNP	ENST00000354216.6	37	c.1317G>A	CCDS13547.1																																																																																				PASS	0.677	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859		9	25	9	25	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30359114	30359114	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr21:30359114C>G	ENST00000361371.5	-	2	263	c.184G>C	c.(184-186)Gat>Cat	p.D62H	LTN1_ENST00000389195.2_Missense_Mutation_p.D108H|LTN1_ENST00000389194.2_Missense_Mutation_p.D108H			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	62					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D62H(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AAATCAGAATCTACAAGACTG	0.368																																						uc002ymr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)GAT>CAT		zinc finger protein 294							89.0	91.0	90.0					21																	30359114		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359114C>G	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.184G>C	21.37:g.30359114C>G	ENSP00000354977:p.Asp62His					RNF160_uc010gll.1_RNA	p.D108H	NM_015565	NP_056380	O94822	LTN1_HUMAN			2	335	-			62					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.322G>C		.	.	.	.	.	.	.	.	.	.	C	25.1	4.599665	0.87055	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.67865	1.24;1.27;-0.29	4.83	4.83	0.62350	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86687	0.1920	10	0.72032	D	0.01	.	18.1275	0.89590	0.0:1.0:0.0:0.0	.	62	O94822	LTN1_HUMAN	H	108;62;62;108	ENSP00000373846:D108H;ENSP00000354977:D62H;ENSP00000373847:D108H	ENSP00000354977:D62H	D	-	1	0	LTN1	29280985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.257000	0.78362	2.514000	0.84764	0.561000	0.74099	GAT		PASS	0.368	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		4	117	4	117	---	---	---	---
KRTAP27-1	643812	broad.mit.edu	37	21	31709364	31709364	+	Silent	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr21:31709364C>T	ENST00000382835.2	-	1	648	c.623G>A	c.(622-624)tGa>tAa	p.*208*		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	0						intermediate filament (GO:0005882)		p.*208*(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TACAGATCTTCACTTACTAGG	0.378																																						uc002ynx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(622-624)TGA>TAA		keratin associated protein 27-1							56.0	55.0	56.0					21																	31709364		2203	4300	6503	SO:0001819	synonymous_variant	643812					intermediate filament		g.chr21:31709364C>T	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.623G>A	21.37:g.31709364C>T							p.*208*	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	649	-			208						Silent	SNP	ENST00000382835.2	37	c.623G>A	CCDS33532.1																																																																																				PASS	0.378	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		7	56	7	56	---	---	---	---
SYNJ1	8867	broad.mit.edu	37	21	34029363	34029363	+	Silent	SNP	T	T	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr21:34029363T>C	ENST00000322229.7	-	19	2528	c.2529A>G	c.(2527-2529)ccA>ccG	p.P843P	SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000433931.2_Silent_p.P882P|SYNJ1_ENST00000382499.2_Silent_p.P882P|SYNJ1_ENST00000382491.3_Silent_p.P838P|SYNJ1_ENST00000357345.3_Silent_p.P843P			O43426	SYNJ1_HUMAN	synaptojanin 1	843	Catalytic. {ECO:0000255}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P843P(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCAAAGTGCCTGGAGTCCACG	0.383																																						uc002yqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(2644-2646)CCA>CCG		synaptojanin 1 isoform a							79.0	71.0	73.0					21																	34029363		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34029363T>C	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2529A>G	21.37:g.34029363T>C						SYNJ1_uc011ads.1_Silent_p.P838P|SYNJ1_uc002yqf.2_Silent_p.P843P|SYNJ1_uc002yqg.2_Silent_p.P838P|SYNJ1_uc002yqi.2_Silent_p.P882P	p.P882P	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			20	2646	-			843			Catalytic (Potential).		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.2646A>G	CCDS54484.1																																																																																				PASS	0.383	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				14	43	14	43	---	---	---	---
GART	2618	broad.mit.edu	37	21	34892833	34892833	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr21:34892833G>A	ENST00000381831.3	-	14	1803	c.1540C>T	c.(1540-1542)Caa>Taa	p.Q514*	GART_ENST00000381839.3_Nonsense_Mutation_p.Q514*|GART_ENST00000543717.1_Nonsense_Mutation_p.Q66*|GART_ENST00000381815.4_Nonsense_Mutation_p.Q514*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	514	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.Q514*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACCAAATCTTGACCAATGGTA	0.368																																						uc002yrx.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1540-1542)CAA>TAA		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						92.0	83.0	86.0					21																	34892833		2203	4300	6503	SO:0001587	stop_gained	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34892833G>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1540C>T	21.37:g.34892833G>A	ENSP00000371253:p.Gln514*					GART_uc002yrz.2_Nonsense_Mutation_p.Q514*|GART_uc010gmd.2_Nonsense_Mutation_p.Q176*|GART_uc002yry.2_Nonsense_Mutation_p.Q514*	p.Q514*	NM_000819	NP_000810	P22102	PUR2_HUMAN			14	1675	-			514			AIRS.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Nonsense_Mutation	SNP	ENST00000381831.3	37	c.1540C>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	G	38	7.160166	0.98103	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000543717	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-12.7694	19.8651	0.96802	0.0:0.0:1.0:0.0	.	.	.	.	X	514;514;514;66	.	ENSP00000371236:Q514X	Q	-	1	0	GART	33814703	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.700000	0.92200	0.561000	0.74099	CAA		PASS	0.368	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		8	38	8	38	---	---	---	---
SMTN	6525	broad.mit.edu	37	22	31484020	31484020	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr22:31484020G>A	ENST00000347557.2	+	3	339	c.121G>A	c.(121-123)Gag>Aag	p.E41K	SMTN_ENST00000333137.7_Missense_Mutation_p.E41K|SMTN_ENST00000358743.1_Missense_Mutation_p.E41K|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	41					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.E41K(2)|p.E33K(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCAGCGGCAGGAGCTGGAGCG	0.652																																						uc003ajl.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|pancreas(1)	3						c.(121-123)GAG>AAG		smoothelin isoform c							25.0	27.0	26.0					22																	31484020		2199	4300	6499	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31484020G>A	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.121G>A	22.37:g.31484020G>A	ENSP00000328635:p.Glu41Lys					SMTN_uc003ajk.1_Missense_Mutation_p.E41K|SMTN_uc003ajm.1_Missense_Mutation_p.E41K|SMTN_uc011ale.1_Missense_Mutation_p.E95K|SMTN_uc011alf.1_Missense_Mutation_p.E97K|SMTN_uc003ajn.1_Missense_Mutation_p.E33K|SMTN_uc011alg.1_5'Flank	p.E41K	NM_006932	NP_008863	P53814	SMTN_HUMAN			3	339	+			41			Potential.		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.121G>A	CCDS13886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.586669|5.586669	0.96578|0.96578	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481|ENST00000438223	T;T;T;T;T;T|.	0.39056|.	1.1;1.1;1.1;1.1;1.1;1.1|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.36932|.	N|.	0.002339|.	T|T	0.54481|0.54481	0.1861|0.1861	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.87578|.	0.998;0.998;0.998;0.998;0.998;0.997|.	T|T	0.50701|0.50701	-0.8797|-0.8797	10|5	0.72032|.	D|.	0.01|.	-23.4851|-23.4851	18.2748|18.2748	0.90078|0.90078	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	97;95;33;41;41;41|.	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5|.	.;.;.;.;SMTN_HUMAN;.|.	K|E	95;95;41;41;41;41;33;33|95	ENSP00000399432:E95K;ENSP00000401341:E95K;ENSP00000351593:E41K;ENSP00000328635:E41K;ENSP00000329532:E41K;ENSP00000394637:E33K|.	ENSP00000329393:E41K|.	E|G	+|+	1|2	0|0	SMTN|SMTN	29814020|29814020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.606000|6.606000	0.74159|0.74159	2.401000|2.401000	0.81631|0.81631	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.652	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		8	45	8	45	---	---	---	---
INPP5J	27124	broad.mit.edu	37	22	31524234	31524234	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr22:31524234A>G	ENST00000331075.5	+	8	1983	c.1934A>G	c.(1933-1935)aAg>aGg	p.K645R	INPP5J_ENST00000404453.1_Missense_Mutation_p.K10R|INPP5J_ENST00000400294.2_Missense_Mutation_p.K278R|INPP5J_ENST00000404390.3_Missense_Mutation_p.K277R|INPP5J_ENST00000412277.2_Missense_Mutation_p.K578R|INPP5J_ENST00000405300.1_Missense_Mutation_p.K278R|INPP5J_ENST00000402238.1_Missense_Mutation_p.K10R|INPP5J_ENST00000401755.1_Missense_Mutation_p.K10R	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	645	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)	p.K278R(1)|p.K645R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCATTCTGAAGGGCTTTCAG	0.582																																						uc003aju.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1933-1935)AAG>AGG		phosphatidylinositol (4,5) bisphosphate							27.0	28.0	27.0					22																	31524234		1902	4109	6011	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31524234A>G	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1934A>G	22.37:g.31524234A>G	ENSP00000333262:p.Lys645Arg					INPP5J_uc003ajv.3_Missense_Mutation_p.K278R|INPP5J_uc003ajs.3_Missense_Mutation_p.K278R|INPP5J_uc011alk.1_Missense_Mutation_p.K578R|INPP5J_uc010gwg.2_Missense_Mutation_p.K210R|INPP5J_uc003ajw.2_Missense_Mutation_p.K81R|INPP5J_uc003ajt.3_Missense_Mutation_p.K277R|INPP5J_uc003ajx.2_Missense_Mutation_p.K10R|INPP5J_uc003ajy.2_Missense_Mutation_p.K10R|INPP5J_uc003ajz.2_Missense_Mutation_p.K85R	p.K645R	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN			8	2026	+			645			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1934A>G		.	.	.	.	.	.	.	.	.	.	A	12.88	2.070196	0.36566	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	T;T;T;T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4;-1.4	5.43	3.28	0.37604	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.303518	0.38111	N	0.001801	T	0.59689	0.2212	N	0.17379	0.485	0.31783	N	0.630582	B;B;P;P;B	0.40398	0.003;0.238;0.465;0.716;0.002	B;B;B;B;B	0.35039	0.009;0.1;0.194;0.194;0.01	T	0.61671	-0.7015	10	0.11485	T	0.65	.	9.5955	0.39571	0.785:0.0:0.215:0.0	.	278;10;578;645;277	Q15735-2;B5MCL8;B4DF95;Q15735;Q15735-3	.;.;.;PI5PA_HUMAN;.	R	645;578;278;278;277;10;10;10	ENSP00000333262:K645R;ENSP00000392924:K578R;ENSP00000383150:K278R;ENSP00000384596:K278R;ENSP00000384534:K277R;ENSP00000385264:K10R;ENSP00000385343:K10R;ENSP00000384540:K10R	ENSP00000333262:K645R	K	+	2	0	INPP5J	29854234	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	3.863000	0.56016	0.896000	0.36366	0.533000	0.62120	AAG		PASS	0.582	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		3	22	3	22	---	---	---	---
EIF4ENIF1	56478	broad.mit.edu	37	22	31867895	31867895	+	Silent	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr22:31867895G>C	ENST00000397525.1	-	3	328	c.105C>G	c.(103-105)ctC>ctG	p.L35L	EIF4ENIF1_ENST00000344710.5_Silent_p.L35L|EIF4ENIF1_ENST00000330125.5_Silent_p.L35L|EIF4ENIF1_ENST00000397523.1_Silent_p.L35L	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	35	EIF4E-binding.					cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)	p.L35L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTATATCCAAGAGTTCTTCCT	0.353																																						uc003akz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(103-105)CTC>CTG		eukaryotic translation initiation factor 4E							104.0	108.0	106.0					22																	31867895		2203	4298	6501	SO:0001819	synonymous_variant	56478					nucleus	protein binding|protein transporter activity	g.chr22:31867895G>C	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.105C>G	22.37:g.31867895G>C						EIF4ENIF1_uc003ala.1_Silent_p.L35L|EIF4ENIF1_uc003alb.1_Silent_p.L35L|EIF4ENIF1_uc003alc.1_Silent_p.L35L	p.L35L	NM_019843	NP_062817	Q9NRA8	4ET_HUMAN			3	269	-			35			EIF4E-binding.		B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Silent	SNP	ENST00000397525.1	37	c.105C>G	CCDS13898.1																																																																																				PASS	0.353	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		80	140	80	140	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40662452	40662452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr22:40662452C>T	ENST00000454349.2	+	5	2429	c.2218C>T	c.(2218-2220)Caa>Taa	p.Q740*	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Nonsense_Mutation_p.Q740*	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	740	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						CCAGCCCAATCAAGGATGGTC	0.522																																						uc011aor.1																			0					0						c.(2218-2220)CAA>TAA		trinucleotide repeat containing 6B isoform 1							36.0	36.0	36.0					22																	40662452		1887	4115	6002	SO:0001587	stop_gained	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662452C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2218C>T	22.37:g.40662452C>T	ENSP00000401946:p.Gln740*					TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Nonsense_Mutation_p.Q740*|TNRC6B_uc003ayo.2_Nonsense_Mutation_p.Q544*	p.Q740*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN			5	2429	+			740					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Nonsense_Mutation	SNP	ENST00000454349.2	37	c.2218C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	37	6.126756	0.97305	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	.	.	.	5.46	5.46	0.80206	.	0.591582	0.18879	N	0.128612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	0.0239	19.3029	0.94150	0.0:1.0:0.0:0.0	.	.	.	.	X	740	.	ENSP00000338371:Q740X	Q	+	1	0	TNRC6B	38992398	1.000000	0.71417	0.995000	0.50966	0.422000	0.31414	3.532000	0.53553	2.575000	0.86900	0.561000	0.74099	CAA		PASS	0.522	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				4	58	4	58	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50581585	50581585	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr22:50581585C>T	ENST00000262794.5	+	17	2376	c.2293C>T	c.(2293-2295)Ccg>Tcg	p.P765S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.P745S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.P765S|MOV10L1_ENST00000395858.3_Missense_Mutation_p.P765S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	765					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.P765S(1)|p.P745S(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCGTCCCCTCCCGTATATTCT	0.483																																						uc003bjj.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2293-2295)CCG>TCG		MOV10-like 1 isoform 1							130.0	137.0	135.0					22																	50581585		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50581585C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2293C>T	22.37:g.50581585C>T	ENSP00000262794:p.Pro765Ser					MOV10L1_uc003bjk.3_Missense_Mutation_p.P765S|MOV10L1_uc011arp.1_Missense_Mutation_p.P745S|MOV10L1_uc011arq.1_Missense_Mutation_p.P526S	p.P765S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	17	2376	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	765					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2293C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599309	0.66332	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	M	0.75884	2.315	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91793	0.5445	10	0.87932	D	0	-34.7075	19.6476	0.95789	0.0:1.0:0.0:0.0	.	526;745;765;765	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	S	765;765;765;745	ENSP00000438978:P765S;ENSP00000262794:P765S;ENSP00000379199:P765S;ENSP00000438542:P745S	ENSP00000262794:P765S	P	+	1	0	MOV10L1	48923712	1.000000	0.71417	0.214000	0.23707	0.175000	0.22909	7.268000	0.78473	2.647000	0.89833	0.655000	0.94253	CCG		PASS	0.483	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		47	86	47	86	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3242837	3242837	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:3242837C>G	ENST00000217939.6	-	5	1043	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	297						extracellular vesicular exosome (GO:0070062)		p.E297Q(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTTCCTGTTCTTGCTCCTCC	0.502																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(889-891)GAA>CAA		adlican precursor							108.0	94.0	99.0					X																	3242837		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242837C>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.889G>C	X.37:g.3242837C>G	ENSP00000217939:p.Glu297Gln						p.E297Q	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	1046	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	297					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.889G>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	3.378	-0.126892	0.06795	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63913	-0.07	3.41	3.41	0.39046	.	1.499550	0.05004	U	0.469654	T	0.49423	0.1556	N	0.16478	0.41	0.09310	N	1	B	0.25312	0.123	B	0.21360	0.034	T	0.41928	-0.9481	10	0.49607	T	0.09	.	10.8398	0.46708	0.0:0.8123:0.1877:0.0	.	297	Q9NR99	MXRA5_HUMAN	Q	297	ENSP00000217939:E297Q	ENSP00000217939:E297Q	E	-	1	0	MXRA5	3252837	0.001000	0.12720	0.024000	0.17045	0.009000	0.06853	0.774000	0.26675	1.331000	0.45412	0.425000	0.28330	GAA		PASS	0.502	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		19	90	19	90	---	---	---	---
RAI2	10742	broad.mit.edu	37	X	17818858	17818858	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:17818858C>A	ENST00000545871.1	-	3	1733	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	RAI2_ENST00000360011.1_Nonsense_Mutation_p.E425*|RAI2_ENST00000331511.1_Nonsense_Mutation_p.E425*|RAI2_ENST00000451717.1_Nonsense_Mutation_p.E425*|RAI2_ENST00000415486.3_Nonsense_Mutation_p.E375*	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	425					embryo development (GO:0009790)			p.E425*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATGTTATTTTCAGCCTTGACT	0.552																																						uc004cyf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1273-1275)GAA>TAA		retinoic acid induced 2							100.0	99.0	99.0					X																	17818858		2203	4300	6503	SO:0001587	stop_gained	10742				embryo development			g.chrX:17818858C>A	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1273G>T	X.37:g.17818858C>A	ENSP00000444210:p.Glu425*					RAI2_uc004cyg.2_Nonsense_Mutation_p.E425*|RAI2_uc010nfa.2_Nonsense_Mutation_p.E425*|RAI2_uc004cyh.3_Nonsense_Mutation_p.E425*|RAI2_uc011miy.1_Nonsense_Mutation_p.E375*	p.E425*	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	1843	-	Hepatocellular(33;0.183)		425					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Nonsense_Mutation	SNP	ENST00000545871.1	37	c.1273G>T	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	C	36	5.802460	0.96960	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	.	.	.	5.12	5.12	0.69794	.	0.439557	0.21026	N	0.081428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-13.572	11.2809	0.49195	0.0:0.9152:0.0:0.0848	.	.	.	.	X	425;425;425;425;375	.	ENSP00000333456:E425X	E	-	1	0	RAI2	17728779	1.000000	0.71417	0.628000	0.29241	0.476000	0.33039	5.223000	0.65283	2.378000	0.81104	0.600000	0.82982	GAA		PASS	0.552	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		9	163	9	163	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29973281	29973281	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:29973281C>T	ENST00000378993.1	+	11	2108	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.P479S	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	479	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.P479S(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGTCATGACCCCAAATTACGT	0.388																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1435-1437)CCA>TCA		interleukin 1 receptor accessory protein-like 1							101.0	90.0	94.0					X																	29973281		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973281C>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1435C>T	X.37:g.29973281C>T	ENSP00000368278:p.Pro479Ser						p.P479S	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	1943	+			479			Cytoplasmic (Potential).|TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1435C>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689447	0.68271	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.02787	4.16;4.16	5.87	5.87	0.94306	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.093095	0.85682	D	0.000000	T	0.12220	0.0297	M	0.74881	2.28	0.80722	D	1	P	0.50528	0.936	P	0.54431	0.752	T	0.00496	-1.1705	9	.	.	.	.	19.184	0.93635	0.0:1.0:0.0:0.0	.	479	Q9NZN1	IRPL1_HUMAN	S	479	ENSP00000368278:P479S;ENSP00000305200:P479S	.	P	+	1	0	IL1RAPL1	29883202	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.481000	0.83766	0.600000	0.82982	CCA		PASS	0.388	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		45	59	45	59	---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35974215	35974215	+	Missense_Mutation	SNP	A	A	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:35974215A>C	ENST00000297866.5	+	8	1378	c.1312A>C	c.(1312-1314)Aat>Cat	p.N438H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	438								p.N438H(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CATCATAAAAAATCAATGCGA	0.378																																						uc004ddj.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1312-1314)AAT>CAT		hypothetical protein LOC170063							72.0	66.0	68.0					X																	35974215		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35974215A>C	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1312A>C	X.37:g.35974215A>C	ENSP00000297866:p.Asn438His					CXorf22_uc010ngv.2_RNA	p.N438H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			8	1371	+			438					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1312A>C	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	13.04	2.118958	0.37436	.	.	ENSG00000165164	ENST00000297866	T	0.60797	0.16	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.78801	2.425	0.34983	D	0.754303	D	0.89917	1.0	D	0.97110	1.0	D	0.84653	0.0702	10	0.87932	D	0	-20.3442	13.4671	0.61260	1.0:0.0:0.0:0.0	.	438	Q6ZTR5	CX022_HUMAN	H	438	ENSP00000297866:N438H	ENSP00000297866:N438H	N	+	1	0	CXorf22	35884136	1.000000	0.71417	0.442000	0.26870	0.017000	0.09413	6.536000	0.73842	1.844000	0.53588	0.486000	0.48141	AAT		PASS	0.378	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		31	39	31	39	---	---	---	---
NYX	60506	broad.mit.edu	37	X	41307168	41307168	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:41307168T>A	ENST00000342595.2	+	1	482	c.26T>A	c.(25-27)cTg>cAg	p.L9Q	NYX_ENST00000378220.1_Missense_Mutation_p.L9Q	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	9					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.L9Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						ATGTTGGTCCTGCTTCTGCAT	0.592																																						uc004dfh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(25-27)CTG>CAG		nyctalopin precursor							132.0	92.0	106.0					X																	41307168		2203	4300	6503	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41307168T>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.26T>A	X.37:g.41307168T>A	ENSP00000340328:p.Leu9Gln					NYX_uc011mku.1_Missense_Mutation_p.L4Q	p.L9Q	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN			1	456	+			9					D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.26T>A	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605571	0.66445	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.62788	-0.0;-0.0	4.46	4.46	0.54185	.	0.954738	0.08670	U	0.911146	T	0.69895	0.3162	L	0.36672	1.1	0.27979	N	0.936103	D	0.76494	0.999	D	0.83275	0.996	T	0.56992	-0.7887	10	0.36615	T	0.2	.	9.1551	0.36988	0.0:0.0:0.0:1.0	.	9	Q9GZU5	NYX_HUMAN	Q	9	ENSP00000340328:L9Q;ENSP00000367465:L9Q	ENSP00000340328:L9Q	L	+	2	0	NYX	41192112	0.998000	0.40836	0.982000	0.44146	0.868000	0.49771	3.291000	0.51764	1.760000	0.52011	0.486000	0.48141	CTG		PASS	0.592	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		9	17	9	17	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102974156	102974156	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:102974156C>A	ENST00000372617.4	-	7	1182	c.762G>T	c.(760-762)caG>caT	p.Q254H	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	254						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.Q254H(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTAGCCCATCTGCCGTTCCA	0.557																																						uc011mse.1																			2	Substitution - Missense(2)		lung(2)		0						c.(760-762)CAG>CAT		glycine receptor, alpha 4 precursor							146.0	149.0	148.0					X																	102974156		2203	4299	6502	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974156C>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.762G>T	X.37:g.102974156C>A	ENSP00000361700:p.Gln254His					GLRA4_uc010nou.2_Missense_Mutation_p.Q254H	p.Q254H	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			7	1183	-			254			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.762G>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890881	0.72524	.	.	ENSG00000188828	ENST00000372617	T	0.77620	-1.11	5.74	3.99	0.46301	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	L	0.42245	1.32	0.49483	D	0.99979	P;P	0.41710	0.76;0.521	B;B	0.42163	0.378;0.291	T	0.65261	-0.6211	10	0.33141	T	0.24	.	9.9422	0.41587	0.0:0.8304:0.0:0.1696	.	254;213	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	H	254	ENSP00000361700:Q254H	ENSP00000361700:Q254H	Q	-	3	2	GLRA4	102860812	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.219000	0.42899	0.697000	0.31718	0.600000	0.82982	CAG		PASS	0.557	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		74	103	74	103	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106082562	106082562	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:106082562G>C	ENST00000357242.5	+	8	1402	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E410Q|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E404Q	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	410							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E410Q(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAGTCTACAGAGCCATCTGA	0.373																																						uc004emo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1228-1230)GAG>CAG		TBC1 domain family, member 8B (with GRAM domain)							143.0	134.0	137.0					X																	106082562		2203	4299	6502	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106082562G>C	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1228G>C	X.37:g.106082562G>C	ENSP00000349781:p.Glu410Gln					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.E410Q	p.E410Q	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			8	1393	+			410					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.1228G>C	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	7.418	0.636052	0.14386	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000276175	T;T;T	0.14266	3.08;2.52;3.09	5.45	3.41	0.39046	.	0.723015	0.13648	N	0.372503	T	0.07052	0.0179	N	0.16656	0.425	0.09310	N	1	B;B	0.16396	0.008;0.017	B;B	0.20955	0.016;0.032	T	0.41502	-0.9505	10	0.13853	T	0.58	1.9569	4.3118	0.10974	0.4061:0.0:0.5939:0.0	.	410;410	Q0IIM8;B9A6K6	TBC8B_HUMAN;.	Q	410;410;404	ENSP00000349781:E410Q;ENSP00000310675:E410Q;ENSP00000276175:E404Q	ENSP00000276175:E404Q	E	+	1	0	TBC1D8B	105969218	0.075000	0.21258	0.030000	0.17652	0.129000	0.20672	3.130000	0.50508	1.064000	0.40671	0.513000	0.50165	GAG		PASS	0.373	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		42	65	42	65	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110644424	110644424	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:110644424T>A	ENST00000338081.3	-	3	913	c.742A>T	c.(742-744)Agt>Tgt	p.S248C	DCX_ENST00000371993.2_Missense_Mutation_p.S167C|DCX_ENST00000356915.2_Missense_Mutation_p.S167C|DCX_ENST00000488120.1_Missense_Mutation_p.S167C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.S167C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	248					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.S167C(1)|p.S248C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCCTGTGCACTGTTGCTGCTA	0.522																																						uc004epd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|lung(1)|skin(1)	4						c.(742-744)AGT>TGT		doublecortin isoform a							128.0	109.0	115.0					X																	110644424		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644424T>A	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.742A>T	X.37:g.110644424T>A	ENSP00000337697:p.Ser248Cys					DCX_uc011msv.1_Missense_Mutation_p.S248C|DCX_uc004epe.2_Missense_Mutation_p.S167C|DCX_uc004epf.2_Missense_Mutation_p.S167C|DCX_uc004epg.2_Missense_Mutation_p.S167C	p.S248C	NM_000555	NP_000546	O43602	DCX_HUMAN			3	914	-			248					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.742A>T	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432880	0.43224	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	T;T;T;T;T	0.26223	1.78;1.78;1.75;1.78;1.78	4.74	4.74	0.60224	.	0.595996	0.19230	N	0.119438	T	0.32194	0.0821	L	0.39898	1.24	0.47308	D	0.999385	D;B	0.54772	0.968;0.026	P;B	0.51193	0.662;0.022	T	0.07214	-1.0784	10	0.66056	D	0.02	.	13.9428	0.64066	0.0:0.0:0.0:1.0	.	236;248	B4DM53;O43602	.;DCX_HUMAN	C	167;167;248;167;167	ENSP00000349385:S167C;ENSP00000361061:S167C;ENSP00000337697:S248C;ENSP00000348553:S167C;ENSP00000419861:S167C	ENSP00000337697:S248C	S	-	1	0	DCX	110531080	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	3.600000	0.54052	1.826000	0.53198	0.486000	0.48141	AGT		PASS	0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		32	52	32	52	---	---	---	---
LONRF3	79836	broad.mit.edu	37	X	118123389	118123389	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:118123389C>T	ENST00000371628.3	+	4	1109	c.1078C>T	c.(1078-1080)Cat>Tat	p.H360Y	LONRF3_ENST00000422289.2_Missense_Mutation_p.H104Y|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.H319Y	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	360							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.H360Y(1)|p.H319Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGAGCTCCCACATTGTTCTAG	0.498																																						uc004eqw.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1078-1080)CAT>TAT		LON peptidase N-terminal domain and ring finger							69.0	61.0	64.0					X																	118123389		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118123389C>T	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1078C>T	X.37:g.118123389C>T	ENSP00000360690:p.His360Tyr					LONRF3_uc004eqx.2_Missense_Mutation_p.H319Y|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.H104Y	p.H360Y	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			4	1109	+			360					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1078C>T	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.240|8.240	0.806606|0.806606	0.16467|0.16467	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;D|.	0.83755|.	-1.4;-1.4;-1.2;-1.76|.	4.68|4.68	2.69|2.69	0.31865|0.31865	.|.	0.547966|.	0.17946|.	N|.	0.156671|.	T|T	0.23965|0.23965	0.0580|0.0580	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B;P|.	0.34699|.	0.086;0.344;0.464|.	B;B;B|.	0.34590|.	0.07;0.054;0.186|.	T|T	0.18085|0.18085	-1.0348|-1.0348	10|5	0.30854|.	T|.	0.27|.	-12.1727|-12.1727	6.1251|6.1251	0.20174|0.20174	0.2162:0.5775:0.2062:0.0|0.2162:0.5775:0.2062:0.0	.|.	104;319;360|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	Y|I	319;319;360;104|125	ENSP00000360691:H319Y;ENSP00000307732:H319Y;ENSP00000360690:H360Y;ENSP00000408894:H104Y|.	ENSP00000307732:H319Y|.	H|T	+|+	1|2	0|0	LONRF3|LONRF3	118007417|118007417	0.475000|0.475000	0.25894|0.25894	0.399000|0.399000	0.26333|0.26333	0.756000|0.756000	0.42949|0.42949	1.979000|1.979000	0.40608|0.40608	1.026000|1.026000	0.39733|0.39733	0.513000|0.513000	0.50165|0.50165	CAT|ACA		PASS	0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		25	59	25	59	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120181736	120181736	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:120181736C>G	ENST00000328078.1	+	1	275	c.198C>G	c.(196-198)ttC>ttG	p.F66L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	66					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.F66L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						ACCCCAACTTCTTCAAGATGG	0.677																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(196-198)TTC>TTG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						57.0	55.0	56.0					X																	120181736		2202	4298	6500	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120181736C>G	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.198C>G	X.37:g.120181736C>G	ENSP00000327589:p.Phe66Leu						p.F66L	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	275	+			66					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.198C>G	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370709	0.82573	.	.	ENSG00000182890	ENST00000328078	D	0.97924	-4.61	1.47	0.567	0.17325	.	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	M	0.62088	1.915	0.58432	D	0.999996	D	0.57257	0.979	P	0.54759	0.76	D	0.94130	0.7387	10	0.66056	D	0.02	.	5.4322	0.16460	0.0:0.787:0.0:0.213	.	66	P49448	DHE4_HUMAN	L	66	ENSP00000327589:F66L	ENSP00000327589:F66L	F	+	3	2	GLUD2	120009417	1.000000	0.71417	0.015000	0.15790	0.693000	0.40251	0.923000	0.28757	0.142000	0.18901	0.372000	0.22366	TTC		PASS	0.677	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		13	78	13	78	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122319713	122319713	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:122319713G>C	ENST00000371251.1	+	2	191	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000542149.1_Missense_Mutation_p.E47Q|GRIA3_ENST00000264357.5_Missense_Mutation_p.E47Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.E47Q|GRIA3_ENST00000371264.3_Missense_Mutation_p.E47Q|GRIA3_ENST00000371266.1_Missense_Mutation_p.E47Q|GRIA3_ENST00000541091.1_Missense_Mutation_p.E31Q			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	47					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.E47Q(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CACAGTGCAGGAGCACAGCGC	0.488																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(139-141)GAG>CAG		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						140.0	104.0	117.0					X																	122319713		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122319713G>C	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.139G>C	X.37:g.122319713G>C	ENSP00000360297:p.Glu47Gln					GRIA3_uc004etr.3_Missense_Mutation_p.E47Q|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E31Q|GRIA3_uc010nqs.1_Missense_Mutation_p.E47Q	p.E47Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN			3	432	+			47			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.139G>C	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	31	5.066965	0.93898	.	.	ENSG00000125675	ENST00000371266;ENST00000264357;ENST00000371264;ENST00000542149;ENST00000335161;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.998;0.994;0.99	T	0.27434	-1.0074	10	0.40728	T	0.16	.	17.5992	0.88021	0.0:0.0:1.0:0.0	.	31;47;47;47	B7Z4C0;Q4TT43;P42263;P42263-2	.;.;GRIA3_HUMAN;.	Q	47;47;47;47;47;47;47;31	ENSP00000264357:E47Q;ENSP00000446146:E47Q;ENSP00000360302:E47Q;ENSP00000360297:E47Q;ENSP00000446440:E31Q	ENSP00000264357:E47Q	E	+	1	0	GRIA3	122147394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.372000	0.80975	0.600000	0.82982	GAG		PASS	0.488	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		10	68	10	68	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129155069	129155069	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:129155069A>T	ENST00000218147.7	+	5	3748	c.3551A>T	c.(3550-3552)aAg>aTg	p.K1184M	BCORL1_ENST00000540052.1_Missense_Mutation_p.K1184M|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1184M|BCORL1_ENST00000303743.5_Missense_Mutation_p.K1184M			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1184					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.K1184M(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGCACCGGAAGCCGACAAAG	0.627																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(3550-3552)AAG>ATG		BCL6 co-repressor-like 1							38.0	39.0	39.0					X																	129155069		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129155069A>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3551A>T	X.37:g.129155069A>T	ENSP00000218147:p.Lys1184Met					BCORL1_uc010nrd.1_Missense_Mutation_p.K1086M	p.K1184M	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			5	3665	+			1184					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3551A>T	CCDS14616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.013052|4.013052	0.75161|0.75161	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.57273	.|0.41;0.85;0.81;0.41;0.93	6.17|6.17	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.38492	.|N	.|0.001662	T|T	0.56093|0.56093	0.1962|0.1962	L|L	0.29908|0.29908	0.895|0.895	0.32518|0.32518	N|N	0.536629|0.536629	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.71870	.|0.975;0.936	T|T	0.65747|0.65747	-0.6093|-0.6093	5|10	.|0.72032	.|D	.|0.01	-16.7073|-16.7073	7.1614|7.1614	0.25667|0.25667	0.8414:0.0:0.1586:0.0|0.8414:0.0:0.1586:0.0	.|.	.|1184;1184	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	D|M	619|1184;1184;1184;1184;784	.|ENSP00000218147:K1184M;ENSP00000307541:K1184M;ENSP00000352253:K1184M;ENSP00000437775:K1184M;ENSP00000399483:K784M	.|ENSP00000218147:K1184M	E|K	+|+	3|2	2|0	BCORL1|BCORL1	128982750|128982750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.008000|3.008000	0.49544|0.49544	2.088000|2.088000	0.63022|0.63022	0.486000|0.486000	0.48141|0.48141	GAA|AAG		PASS	0.627	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		10	38	10	38	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153589882	153589882	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chrX:153589882G>C	ENST00000369850.3	-	21	3237	c.3001C>G	c.(3001-3003)Caa>Gaa	p.Q1001E	FLNA_ENST00000344736.4_Missense_Mutation_p.Q1001E|FLNA_ENST00000360319.4_Missense_Mutation_p.Q1001E|FLNA_ENST00000422373.1_Missense_Mutation_p.Q1001E	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1001					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.Q1001E(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTTGCCTTGACCACCAGCA	0.577																																						uc004fkk.2																			1	Substitution - Missense(1)		lung(1)	breast(6)	6						c.(3001-3003)CAA>GAA		filamin A, alpha isoform 2							121.0	119.0	119.0					X																	153589882		2116	4204	6320	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153589882G>C	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3001C>G	X.37:g.153589882G>C	ENSP00000358866:p.Gln1001Glu					FLNA_uc010nuu.1_Missense_Mutation_p.Q1001E	p.Q1001E	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			21	3250	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1001			Filamin 8.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.3001C>G	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951647	0.73787	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77	5.51	4.62	0.57501	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.88081	0.6341	L	0.52206	1.635	0.80722	D	1	D;B	0.69078	0.997;0.051	D;B	0.72625	0.978;0.262	D	0.87946	0.2720	10	0.52906	T	0.07	.	14.6889	0.69070	0.0:0.0:0.8539:0.1461	.	1001;1001	P21333-2;P21333	.;FLNA_HUMAN	E	1001;974;1001;1001;1001	ENSP00000353467:Q1001E;ENSP00000416926:Q1001E;ENSP00000358866:Q1001E;ENSP00000358863:Q1001E	ENSP00000358863:Q1001E	Q	-	1	0	FLNA	153243076	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.847000	0.99503	1.045000	0.40225	0.523000	0.50628	CAA		PASS	0.577	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			55	102	55	102	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135759594	135759594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr6:135759594delC	ENST00000367800.4	-	13	2171	c.1955delG	c.(1954-1956)ggcfs	p.G652fs	AHI1_ENST00000417892.2_Frame_Shift_Del_p.G6fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.G652fs|AHI1_ENST00000327035.6_Frame_Shift_Del_p.G652fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	652					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATTGAGGTGGCCACACAATTC	0.353																																						uc003qgi.2																			0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(1954-1956)GGCfs		Abelson helper integration site 1 isoform a							47.0	41.0	43.0					6																	135759594		1849	4088	5937	SO:0001589	frameshift_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135759594delC	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.1955delG	6.37:g.135759594delC	ENSP00000356774:p.Gly652fs					AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Frame_Shift_Del_p.G102fs|AHI1_uc003qgh.2_Frame_Shift_Del_p.G652fs|AHI1_uc003qgj.2_Frame_Shift_Del_p.G652fs|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Frame_Shift_Del_p.G652fs	p.G652fs	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	15	2339	-	Breast(56;0.239)|Colorectal(23;0.24)		652			WD 2.		E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Frame_Shift_Del	DEL	ENST00000367800.4	37	c.1955delG	CCDS47483.1																																																																																					0.353	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		4	2	4	2	---	---	---	---
CAMK2B	816	broad.mit.edu	37	7	44268438	44268439	+	Frame_Shift_Ins	INS	-	-	G	rs537871427		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr7:44268438_44268439insG	ENST00000395749.2	-	19	1500_1501	c.1424_1425insC	c.(1423-1425)ccgfs	p.P475fs	CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000353625.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	475					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACAGGCAGGGCGGGGGCCCCGC	0.673																																						uc003tkq.2																			0				large_intestine(1)|ovary(1)	2						c.(1423-1425)CCGfs		calcium/calmodulin-dependent protein kinase II																																				SO:0001589	frameshift_variant	816				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr7:44268438_44268439insG	U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1425dupC	7.37:g.44268443_44268443dupG	ENSP00000379098:p.Pro475fs					CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkx.2_Intron|CAMK2B_uc010kyd.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Frame_Shift_Ins_p.P108fs	p.P475fs	NM_001220	NP_001211	Q13554	KCC2B_HUMAN			19	1634_1635	-			475					A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Ins	INS	ENST00000395749.2	37	c.1424_1425insC	CCDS5483.1																																																																																					0.673	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2	NM_172084		8	4	8	4	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129453241	129453242	+	Frame_Shift_Ins	INS	-	-	A			TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr9:129453241_129453242insA	ENST00000373474.4	+	3	460_461	c.453_454insA	c.(454-456)aagfs	p.K152fs	LMX1B_ENST00000561065.1_Frame_Shift_Ins_p.K129fs|LMX1B_ENST00000526117.1_Frame_Shift_Ins_p.K152fs|LMX1B_ENST00000355497.5_Frame_Shift_Ins_p.K152fs|LMX1B_ENST00000425646.2_Frame_Shift_Ins_p.K129fs			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	152	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GGCAGCTACGCAAGGGCGACGA	0.629									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc004bqj.2																			0					0						c.(382-387)CGCAAGfs		LIM homeobox transcription factor 1, beta																																				SO:0001589	frameshift_variant	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453241_129453242insA	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.455dupA	9.37:g.129453243_129453243dupA	ENSP00000362573:p.Lys152fs					LMX1B_uc004bqi.2_Frame_Shift_Ins_p.R128fs|LMX1B_uc011maa.1_Frame_Shift_Ins_p.R128fs	p.R128fs	NM_002316	NP_002307	O60663	LMX1B_HUMAN			3	434_435	+			128_129			LIM zinc-binding 2.		F8W7W6|O75463|Q5JU95|Q6ISC9	Frame_Shift_Ins	INS	ENST00000373474.4	37	c.384_385insA	CCDS55342.1																																																																																					0.629	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			28	15	28	15	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-	rs371388366		TCGA-34-5928-01A-11D-1817-08	TCGA-34-5928-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	9e2d032e-f982-44fc-b6e0-3be82f029689	b8da860b-03e5-44e5-a8c0-9ab310d3dfdd	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000430549.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2																			1	Deletion - In frame(1)		central_nervous_system(1)	ovary(1)	1						c.(322-327)CACCAG>CAG		POU domain, class 4, transcription factor 1																																				SO:0001651	inframe_deletion	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176484_79176486delTGG	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.324_326delCCA	13.37:g.79176493_79176495delTGG	ENSP00000366413:p.His108del					uc001vku.1_Intron	p.H108del	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	558_560	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	108			Poly-His.		Q14986|Q15318|Q5T227	In_Frame_Del	DEL	ENST00000377208.5	37	c.324_326delCCA	CCDS31996.1																																																																																					0.729	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			4	2	4	2	---	---	---	---
