#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
PADI2	11240	broad.mit.edu	37	1	17422416	17422416	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:17422416G>T	ENST00000375486.4	-	4	462	c.399C>A	c.(397-399)aaC>aaA	p.N133K	PADI2_ENST00000444885.2_Missense_Mutation_p.N133K|PADI2_ENST00000375481.1_Missense_Mutation_p.N133K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	133					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.N133K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCTTTGGGTTGTTCTTCTCCA	0.602																																						uc001baf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6						c.(397-399)AAC>AAA		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)						218.0	187.0	197.0					1																	17422416		2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17422416G>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.399C>A	1.37:g.17422416G>T	ENSP00000364635:p.Asn133Lys					PADI2_uc010ocm.1_Missense_Mutation_p.N133K|PADI2_uc001bag.1_Missense_Mutation_p.N133K	p.N133K	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	4	481	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	133					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.399C>A	CCDS177.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.535763	0.64972	.	.	ENSG00000117115	ENST00000375486;ENST00000444885;ENST00000375481	T;T;T	0.14640	2.49;2.49;2.49	6.08	2.01	0.26516	Protein-arginine deiminase (PAD), central domain (2);	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.64170	1.965	0.23657	N	0.997186	P;D	0.52996	0.615;0.957	B;P	0.61533	0.1;0.89	T	0.05115	-1.0905	10	0.28530	T	0.3	-57.7554	8.103	0.30868	0.1973:0.1136:0.6891:0.0	.	133;133	B4DIU3;Q9Y2J8	.;PADI2_HUMAN	K	133	ENSP00000364635:N133K;ENSP00000405894:N133K;ENSP00000364630:N133K	ENSP00000364630:N133K	N	-	3	2	PADI2	17295003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.200000	0.42724	0.425000	0.26087	0.655000	0.94253	AAC		PASS	0.602	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			74	103	74	103	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86905984	86905984	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:86905984C>A	ENST00000370565.4	+	8	1519	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	453	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)	p.L453M(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGCCCCAAATCTGGAGGAATT	0.423																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1357-1359)CTG>ATG		chloride channel accessory 2 precursor							95.0	88.0	90.0					1																	86905984		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86905984C>A		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.1357C>A	1.37:g.86905984C>A	ENSP00000359596:p.Leu453Met						p.L453M	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	8	1519	+		Lung NSC(277;0.238)	453			VWFA.|Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.1357C>A	CCDS708.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668953	0.29604	.	.	ENSG00000137975	ENST00000370565	T	0.24908	1.83	5.77	2.75	0.32379	von Willebrand factor, type A (3);	0.245405	0.33309	N	0.005045	T	0.32793	0.0841	M	0.83774	2.66	0.26387	N	0.976634	D	0.69078	0.997	D	0.67900	0.954	T	0.17018	-1.0383	10	0.52906	T	0.07	-0.6302	8.4029	0.32597	0.1055:0.6854:0.1404:0.0687	.	453	Q9UQC9	CLCA2_HUMAN	M	453	ENSP00000359596:L453M	ENSP00000359596:L453M	L	+	1	2	CLCA2	86678572	0.284000	0.24287	0.334000	0.25495	0.023000	0.10783	0.622000	0.24433	0.283000	0.22279	0.655000	0.94253	CTG		PASS	0.423	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		5	66	5	66	---	---	---	---
PLPPR5	163404	broad.mit.edu	37	1	99470041	99470041	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:99470041C>A	ENST00000263177.4	-	1	408	c.187G>T	c.(187-189)Gtg>Ttg	p.V63L	LPPR5_ENST00000534652.1_5'Flank|RP5-896L10.1_ENST00000425113.1_RNA|LPPR5_ENST00000370188.3_Missense_Mutation_p.V63L	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		63						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.V63L(1)									ACGGGGGGCACGGCGCTGCTG	0.697																																						uc001dsb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GTG>TTG		phosphatidic acid phosphatase type 2d isoform 1							33.0	30.0	31.0					1																	99470041		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99470041C>A																												ENST00000263177.4:c.187G>T	1.37:g.99470041C>A	ENSP00000263177:p.Val63Leu					uc001dsd.1_RNA|LPPR5_uc001dsc.2_Missense_Mutation_p.V63L	p.V63L	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			1	409	-			63			Helical; (Potential).		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.187G>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284383	0.59867	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.34275	1.37;1.37	5.24	5.24	0.73138	.	0.121092	0.56097	D	0.000027	T	0.19446	0.0467	L	0.47016	1.485	0.38878	D	0.956858	B;B	0.15473	0.012;0.013	B;B	0.21151	0.033;0.015	T	0.07751	-1.0756	10	0.56958	D	0.05	.	10.9514	0.47332	0.0:0.9131:0.0:0.0869	.	63;63	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	L	63	ENSP00000359207:V63L;ENSP00000263177:V63L	ENSP00000263177:V63L	V	-	1	0	AL161744.1	99242629	0.998000	0.40836	0.998000	0.56505	0.993000	0.82548	1.224000	0.32539	2.431000	0.82371	0.561000	0.74099	GTG		PASS	0.697	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			13	28	13	28	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115420804	115420804	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:115420804T>A	ENST00000369522.3	+	12	1131	c.891T>A	c.(889-891)aaT>aaA	p.N297K	SYCP1_ENST00000369518.1_Missense_Mutation_p.N297K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	297					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)	p.N297K(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAGTTAATCAATTAGAGG	0.269																																						uc001efr.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(889-891)AAT>AAA		synaptonemal complex protein 1							39.0	45.0	43.0					1																	115420804		2156	4251	6407	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115420804T>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.891T>A	1.37:g.115420804T>A	ENSP00000358535:p.Asn297Lys					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.N297K|SYCP1_uc009wgw.2_Missense_Mutation_p.N297K	p.N297K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1100	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	297			Potential.		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.891T>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911954	0.33721	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.54479	0.57;0.57;0.57	4.96	3.64	0.41730	.	0.472885	0.24211	N	0.040529	T	0.37183	0.0994	L	0.53249	1.67	0.26301	N	0.977976	D;D	0.59767	0.986;0.986	P;P	0.61874	0.895;0.895	T	0.29181	-1.0020	10	0.09338	T	0.73	-10.665	3.3806	0.07254	0.0:0.1477:0.2325:0.6197	.	297;297	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	297	ENSP00000358535:N297K;ENSP00000410011:N297K;ENSP00000358531:N297K	ENSP00000358531:N297K	N	+	3	2	SYCP1	115222327	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	0.493000	0.22451	1.976000	0.57569	0.533000	0.62120	AAT		PASS	0.269	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		8	73	8	73	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152278012	152278012	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:152278012C>A	ENST00000368799.1	-	3	9385	c.9350G>T	c.(9349-9351)aGc>aTc	p.S3117I	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3117	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3117I(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCTGCTTGACCCCGG	0.582									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(9349-9351)AGC>ATC		filaggrin							112.0	161.0	145.0					1																	152278012		2171	4276	6447	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278012C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9350G>T	1.37:g.152278012C>A	ENSP00000357789:p.Ser3117Ile						p.S3117I	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9386	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3117			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9350G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417222	0.25552	.	.	ENSG00000143631	ENST00000368799	T	0.03772	3.81	3.45	1.48	0.22813	.	.	.	.	.	T	0.06325	0.0163	M	0.73598	2.24	0.09310	N	1	D	0.63046	0.992	D	0.63488	0.915	T	0.21143	-1.0254	9	0.42905	T	0.14	.	5.0544	0.14525	0.0:0.6591:0.2141:0.1268	.	3117	P20930	FILA_HUMAN	I	3117	ENSP00000357789:S3117I	ENSP00000357789:S3117I	S	-	2	0	FLG	150544636	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.329000	0.19698	0.093000	0.17368	0.449000	0.29647	AGC		PASS	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		195	138	195	138	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154245822	154245822	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:154245822C>T	ENST00000328703.7	+	2	277	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	HAX1_ENST00000483970.2_Missense_Mutation_p.P22S|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	22	Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|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 transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)	p.P22S(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCACAGAGATCCCTTTTTTGG	0.488									Kostmann syndrome																													uc001fes.2																			2	Substitution - Missense(2)		cervix(1)|lung(1)		0						c.(64-66)CCC>TCC		HCLS1 associated protein X-1 isoform a							70.0	71.0	70.0					1																	154245822		2203	4300	6503	SO:0001583	missense	10456	Kostmann_syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245822C>T	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.64C>T	1.37:g.154245822C>T	ENSP00000329002:p.Pro22Ser					HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.P22S|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_5'UTR	p.P22S	NM_006118	NP_006109	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	225	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		22			Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Missense_Mutation	SNP	ENST00000328703.7	37	c.64C>T	CCDS1064.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970654	0.92919	.	.	ENSG00000143575	ENST00000328703;ENST00000483970;ENST00000435087	T;T;T	0.44083	0.93;0.93;0.93	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65240	-0.6216	10	0.72032	D	0.01	-13.9636	16.6434	0.85138	0.0:1.0:0.0:0.0	.	22;22	O00165-2;O00165	.;HAX1_HUMAN	S	22	ENSP00000329002:P22S;ENSP00000435088:P22S;ENSP00000394920:P22S	ENSP00000329002:P22S	P	+	1	0	HAX1	152512446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.721000	0.47260	2.776000	0.95493	0.655000	0.94253	CCC		PASS	0.488	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		5	125	5	125	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158669893	158669893	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:158669893G>A	ENST00000359610.2	-	1	593	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCCAGACGCAGCACTGGGAGG	0.478																																						uc001fsu.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(550-552)CTG>TTG		olfactory receptor, family 6, subfamily K,							135.0	113.0	121.0					1																	158669893		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669893G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.550C>T	1.37:g.158669893G>A							p.L184L	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	550	-	all_hematologic(112;0.0378)		184			Extracellular (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.550C>T	CCDS30902.1																																																																																				PASS	0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		25	62	25	62	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158670088	158670088	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:158670088A>T	ENST00000359610.2	-	1	398	c.355T>A	c.(355-357)Ttt>Att	p.F119I		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F119I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TAGTGGTCAAAGGCCATAACT	0.473																																						uc001fsu.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(355-357)TTT>ATT		olfactory receptor, family 6, subfamily K,							116.0	105.0	108.0					1																	158670088		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670088A>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.355T>A	1.37:g.158670088A>T	ENSP00000352626:p.Phe119Ile						p.F119I	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	355	-	all_hematologic(112;0.0378)		119			Helical; Name=3; (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.355T>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	7.152	0.584047	0.13749	.	.	ENSG00000196171	ENST00000359610	T	0.01304	5.03	4.7	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001425	T	0.00384	0.0012	N	0.11560	0.145	0.27794	N	0.942735	B	0.06786	0.001	B	0.06405	0.002	T	0.48747	-0.9008	10	0.49607	T	0.09	-11.6072	9.8826	0.41242	0.8469:0.0:0.0:0.153	.	119	Q8NGY2	OR6K2_HUMAN	I	119	ENSP00000352626:F119I	ENSP00000352626:F119I	F	-	1	0	OR6K2	156936712	0.649000	0.27322	1.000000	0.80357	0.941000	0.58515	1.831000	0.39141	0.793000	0.33875	0.528000	0.53228	TTT		PASS	0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		26	43	26	43	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159175750	159175750	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:159175750G>T	ENST00000368122.2	+	2	1200	c.521G>T	c.(520-522)tGg>tTg	p.W174L	DARC_ENST00000368121.2_Missense_Mutation_p.W176L|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Missense_Mutation_p.W174L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		174					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.W176L(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GTGGGAATTTGGGGAGTGGCT	0.622																																						uc001fto.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(520-522)TGG>TTG		Duffy blood group antigen isoform b							38.0	32.0	34.0					1																	159175750		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175750G>T																												ENST00000368122.2:c.521G>T	1.37:g.159175750G>T	ENSP00000357104:p.Trp174Leu					DARC_uc001ftp.3_Missense_Mutation_p.W176L	p.W174L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	761	+	all_hematologic(112;0.0429)		174			Helical; Name=4; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.521G>T	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371601	0.42003	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.58210	0.35;0.35;0.35	5.23	4.25	0.50352	.	0.000000	0.30538	U	0.009404	T	0.53367	0.1792	L	0.47190	1.495	0.29636	N	0.845112	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.48747	-0.9008	10	0.87932	D	0	-3.7274	10.5825	0.45263	0.0:0.0:0.808:0.192	.	176;174	Q5Y7A1;Q16570	.;DUFFY_HUMAN	L	174;174;174;176	ENSP00000357104:W174L;ENSP00000441985:W174L;ENSP00000357103:W176L	ENSP00000352341:W174L	W	+	2	0	DARC	157442374	0.999000	0.42202	0.822000	0.32727	0.027000	0.11550	2.581000	0.46077	2.596000	0.87737	0.561000	0.74099	TGG		PASS	0.622	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			3	44	3	44	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167097527	167097527	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:167097527G>T	ENST00000361200.2	+	6	3325	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	DUSP27_ENST00000443333.1_Missense_Mutation_p.E1053D|DUSP27_ENST00000271385.5_Missense_Mutation_p.E1053D|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1053					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E1053D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAAGGGAAGAGTCCCCAGAAC	0.562																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3157-3159)GAG>GAT		dual specificity phosphatase 27							32.0	37.0	36.0					1																	167097527		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097527G>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3159G>T	1.37:g.167097527G>T	ENSP00000354483:p.Glu1053Asp						p.E1053D	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3159	+			1053					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3159G>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	8.069	0.769850	0.15983	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05319	3.46;3.46;3.46	5.42	3.56	0.40772	.	0.256114	0.27710	N	0.018175	T	0.02193	0.0068	L	0.51422	1.61	0.31724	N	0.637917	B	0.15473	0.013	B	0.10450	0.005	T	0.32877	-0.9890	10	0.66056	D	0.02	-18.4216	4.5425	0.12066	0.2993:0.1601:0.5406:0.0	.	1053	Q5VZP5	DUS27_HUMAN	D	1053	ENSP00000354483:E1053D;ENSP00000271385:E1053D;ENSP00000404874:E1053D	ENSP00000271385:E1053D	E	+	3	2	DUSP27	165364151	1.000000	0.71417	0.894000	0.35097	0.045000	0.14185	1.078000	0.30754	0.657000	0.30906	0.643000	0.83706	GAG		PASS	0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		20	41	20	41	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169702053	169702053	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:169702053G>C	ENST00000333360.7	-	3	263	c.124C>G	c.(124-126)Caa>Gaa	p.Q42E	SELE_ENST00000367780.4_Missense_Mutation_p.Q42E|SELE_ENST00000367779.4_Missense_Mutation_p.Q42E|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.Q42E|SELE_ENST00000367781.4_Missense_Mutation_p.Q42E|SELE_ENST00000367774.1_Missense_Mutation_p.Q42E|SELE_ENST00000367777.1_Missense_Mutation_p.Q42E|SELE_ENST00000367775.1_Missense_Mutation_p.Q42E|SELE_ENST00000367782.4_Missense_Mutation_p.Q42E	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	42	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.Q42E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GTGTACCTTTGCTGACAATAA	0.418																																						uc001ggm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(124-126)CAA>GAA		selectin E precursor							139.0	127.0	131.0					1																	169702053		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169702053G>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.124C>G	1.37:g.169702053G>C	ENSP00000331736:p.Gln42Glu					C1orf112_uc001ggj.2_Intron	p.Q42E	NM_000450	NP_000441	P16581	LYAM2_HUMAN			3	281	-	all_hematologic(923;0.208)		42			Extracellular (Potential).|C-type lectin.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.124C>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	9.629	1.135826	0.21123	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3;2.3	5.58	-3.5	0.04710	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.374504	0.19738	N	0.107181	T	0.01353	0.0044	N	0.03983	-0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44682	-0.9312	10	0.17369	T	0.5	-1.0289	5.6136	0.17418	0.0709:0.4385:0.1523:0.3382	.	42	P16581	LYAM2_HUMAN	E	42	ENSP00000356755:Q42E;ENSP00000356756:Q42E;ENSP00000356754:Q42E;ENSP00000356753:Q42E;ENSP00000331736:Q42E;ENSP00000356751:Q42E;ENSP00000356749:Q42E;ENSP00000356750:Q42E;ENSP00000356748:Q42E	ENSP00000331736:Q42E	Q	-	1	0	SELE	167968677	0.000000	0.05858	0.010000	0.14722	0.003000	0.03518	-0.131000	0.10482	-0.219000	0.10003	-0.175000	0.13238	CAA		PASS	0.418	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		30	60	30	60	---	---	---	---
MYOC	4653	broad.mit.edu	37	1	171621272	171621272	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:171621272C>T	ENST00000037502.6	-	1	551	c.480G>A	c.(478-480)agG>agA	p.R160R		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	160					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.R160R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CATTTTCTTGCCTTAGTCGCT	0.567																																						uc001ghu.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(478-480)AGG>AGA		myocilin precursor							191.0	207.0	202.0					1																	171621272		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621272C>T	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.480G>A	1.37:g.171621272C>T						MYOC_uc010pmk.1_Silent_p.R102R	p.R160R	NM_000261	NP_000252	Q99972	MYOC_HUMAN			1	502	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		160			Potential.		B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.480G>A	CCDS1297.1																																																																																				PASS	0.567	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		34	349	34	349	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179965809	179965809	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:179965809G>T	ENST00000367607.3	+	6	935	c.517G>T	c.(517-519)Gaa>Taa	p.E173*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	173					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E173*(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGTCGAGAAGAACGGAATAT	0.403																																						uc001gnt.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(517-519)GAA>TAA		centrosome-associated protein 350							86.0	76.0	80.0					1																	179965809		2203	4300	6503	SO:0001587	stop_gained	9857					centrosome|nucleus|spindle		g.chr1:179965809G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.517G>T	1.37:g.179965809G>T	ENSP00000356579:p.Glu173*					CEP350_uc001gnr.1_Nonsense_Mutation_p.E147*|CEP350_uc009wxl.2_Nonsense_Mutation_p.E172*|CEP350_uc001gnu.2_Nonsense_Mutation_p.E7*	p.E173*	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			6	900	+			173					O75068|Q8TDK3|Q8WY20	Nonsense_Mutation	SNP	ENST00000367607.3	37	c.517G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537500	0.85917	.	.	ENSG00000135837	ENST00000367607;ENST00000491495	.	.	.	4.86	2.88	0.33553	.	0.413989	0.20200	N	0.097113	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6357	0.68689	0.0:0.2409:0.7591:0.0	.	.	.	.	X	173;147	.	.	E	+	1	0	CEP350	178232432	1.000000	0.71417	0.490000	0.27465	0.180000	0.23129	2.585000	0.46111	0.403000	0.25479	0.579000	0.79373	GAA		PASS	0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		6	27	6	27	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193218963	193218963	+	Silent	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:193218963T>C	ENST00000367435.3	+	16	1705	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	507	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.D507D(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						GTCATTTGGATAGACCAGTGT	0.363																																						uc001gtb.2																			1	Substitution - coding silent(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(1519-1521)GAT>GAC		parafibromin							122.0	124.0	123.0					1																	193218963		2203	4300	6503	SO:0001819	synonymous_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.chr1:193218963T>C	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.1521T>C	1.37:g.193218963T>C							p.D507D	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			16	1764	+			507					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP	ENST00000367435.3	37	c.1521T>C	CCDS1382.1																																																																																				PASS	0.363	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		3	29	3	29	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198721755	198721755	+	Silent	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:198721755A>G	ENST00000367376.2	+	31	3528	c.3357A>G	c.(3355-3357)caA>caG	p.Q1119Q	PTPRC_ENST00000352140.3_Silent_p.Q1071Q|PTPRC_ENST00000348564.6_Silent_p.Q960Q|PTPRC_ENST00000594404.1_Silent_p.Q958Q|PTPRC_ENST00000442510.2_Silent_p.Q1121Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1119	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q1119Q(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCAGTACCAATATACAAACT	0.393																																						uc001gur.1																			1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3355-3357)CAA>CAG		protein tyrosine phosphatase, receptor type, C							73.0	76.0	75.0					1																	198721755		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721755A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3357A>G	1.37:g.198721755A>G						PTPRC_uc001gus.1_Silent_p.Q1071Q|PTPRC_uc001gut.1_Silent_p.Q958Q	p.Q1119Q	NM_002838	NP_002829	P08575	PTPRC_HUMAN			31	3537	+			1119			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.3357A>G																																																																																					PASS	0.393	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				9	15	9	15	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207680060	207680060	+	Splice_Site	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:207680060T>C	ENST00000367049.4	+	3	303	c.303T>C	c.(301-303)cgT>cgC	p.R101R	CR1_ENST00000400960.2_Splice_Site_p.R101R|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Splice_Site_p.R101R|CR1_ENST00000367052.1_Splice_Site_p.R101R|CR1_ENST00000367053.1_Splice_Site_p.R101R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	101	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R106R(1)|p.R101R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCTGTAGGTAAATCATGTC	0.393																																						uc001hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(301-303)CGT>CGC		complement receptor 1 isoform F precursor							122.0	111.0	114.0					1																	207680060		1884	4106	5990	SO:0001630	splice_region_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207680060T>C	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.302-1T>C	1.37:g.207680060T>C						CR1_uc009xcl.1_Silent_p.R101R|CR1_uc001hfx.2_Silent_p.R101R|CR1_uc010psg.1_Silent_p.R101R|CR1_uc009xcj.1_Silent_p.R101R|CR1_uc009xck.1_Silent_p.R101R	p.R101R	NM_000573	NP_000564	P17927	CR1_HUMAN			3	443	+			101			Sushi 1.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.303T>C	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	T	0.031	-1.334668	0.01287	.	.	ENSG00000203710	ENST00000529814	.	.	.	3.86	-6.71	0.01760	.	.	.	.	.	T	0.34774	0.0909	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.41840	-0.9486	4	.	.	.	.	1.3225	0.02119	0.4095:0.095:0.2777:0.2177	.	.	.	.	A	77	.	.	V	+	2	0	CR1	205746683	0.053000	0.20554	0.480000	0.27341	0.004000	0.04260	-1.206000	0.03011	-0.948000	0.03668	-0.403000	0.06358	GTA		PASS	0.393	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	Silent	11	76	11	76	---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212798756	212798756	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:212798756G>T	ENST00000294829.3	+	1	968	c.537G>T	c.(535-537)gaG>gaT	p.E179D	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	179						nucleus (GO:0005634)		p.E179D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCCATGGAGAGTAACAGCA	0.507																																						uc001hjk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(535-537)GAG>GAT		hypothetical protein LOC149647							107.0	112.0	110.0					1																	212798756		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798756G>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.537G>T	1.37:g.212798756G>T	ENSP00000294829:p.Glu179Asp					uc010pth.1_RNA	p.E179D	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	941	+			179					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.537G>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	2.927	-0.221830	0.06061	.	.	ENSG00000162771	ENST00000294829	T	0.18174	2.23	4.54	0.0818	0.14426	.	0.349704	0.24158	N	0.041015	T	0.06917	0.0176	N	0.10733	0.035	0.09310	N	0.999999	B	0.11235	0.004	B	0.15052	0.012	T	0.41324	-0.9515	10	0.13470	T	0.59	-22.7756	9.3076	0.37885	0.1455:0.3308:0.5237:0.0	.	179	Q8IYT1	FA71A_HUMAN	D	179	ENSP00000294829:E179D	ENSP00000294829:E179D	E	+	3	2	FAM71A	210865379	0.504000	0.26123	0.639000	0.29394	0.186000	0.23388	-0.207000	0.09384	0.221000	0.20879	-0.300000	0.09419	GAG		PASS	0.507	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		20	209	20	209	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214209146	214209146	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:214209146C>T	ENST00000366958.4	+	5	2791	c.2183C>T	c.(2182-2184)cCg>cTg	p.P728L	PROX1_ENST00000435016.1_Missense_Mutation_p.P728L|PROX1_ENST00000261454.4_Missense_Mutation_p.P728L|PROX1_ENST00000498508.2_Missense_Mutation_p.P728L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	728	Essential for nuclear localization, interaction with RORG, repression of RORG transcriptional activator activity. {ECO:0000250|UniProtKB:P48437}.|Prospero-like.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P728L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTCAAATCCCCGAACTGCCTA	0.428																																						uc001hkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(2182-2184)CCG>CTG		prospero homeobox 1							79.0	71.0	73.0					1																	214209146		2203	4300	6503	SO:0001583	missense	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214209146C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.2183C>T	1.37:g.214209146C>T	ENSP00000355925:p.Pro728Leu						p.P728L	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	5	2455	+			728			Prospero-like.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	c.2183C>T	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426569	0.83667	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T	0.58652	0.32;0.32;0.32	5.53	5.53	0.82687	Homeo-prospero domain (1);Homeodomain-like (1);	.	.	.	.	T	0.70596	0.3242	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	P	0.51229	0.663	T	0.75814	-0.3185	9	0.87932	D	0	-4.2123	19.4552	0.94884	0.0:1.0:0.0:0.0	.	728	Q92786	PROX1_HUMAN	L	300;728;728;728;728	ENSP00000420283:P728L;ENSP00000400694:P728L;ENSP00000261454:P728L	ENSP00000261454:P728L	P	+	2	0	PROX1	212275769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.591000	0.87537	0.563000	0.77884	CCG		PASS	0.428	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		4	45	4	45	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234561477	234561477	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:234561477C>A	ENST00000040877.1	-	20	3385	c.3386G>T	c.(3385-3387)gGc>gTc	p.G1129V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1129					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.G1129V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CATATTGGAGCCATCTAATAA	0.274																																						uc001hwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3385-3387)GGC>GTC		TAR RNA binding protein 1							67.0	72.0	71.0					1																	234561477		2202	4296	6498	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234561477C>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3386G>T	1.37:g.234561477C>A	ENSP00000040877:p.Gly1129Val						p.G1129V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		20	3386	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1129					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3386G>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983063	0.34942	.	.	ENSG00000059588	ENST00000040877	T	0.06218	3.33	5.02	0.792	0.18625	Armadillo-type fold (1);	0.315513	0.35615	N	0.003085	T	0.08223	0.0205	L	0.54323	1.7	0.80722	D	1	D	0.56035	0.974	P	0.45913	0.497	T	0.17745	-1.0359	10	0.48119	T	0.1	-10.2417	8.3797	0.32463	0.0:0.5784:0.0:0.4216	.	1129	Q13395	TARB1_HUMAN	V	1129	ENSP00000040877:G1129V	ENSP00000040877:G1129V	G	-	2	0	TARBP1	232628100	0.992000	0.36948	0.982000	0.44146	0.957000	0.61999	0.160000	0.16462	0.053000	0.16036	-0.229000	0.12294	GGC		PASS	0.274	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		20	35	20	35	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248201738	248201738	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:248201738C>G	ENST00000366479.2	+	1	265	c.169C>G	c.(169-171)Cct>Gct	p.P57A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P57A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			TCTCCACACACCTATGTATTT	0.373																																						uc001idw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(169-171)CCT>GCT		olfactory receptor, family 2, subfamily L,							309.0	286.0	294.0					1																	248201738		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201738C>G	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.169C>G	1.37:g.248201738C>G	ENSP00000355435:p.Pro57Ala					OR2L13_uc001ids.2_Intron	p.P57A	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	265	+	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)		57			Helical; Name=2; (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.169C>G	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255865	0.59321	.	.	ENSG00000203663	ENST00000366479	T	0.25414	1.8	2.09	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59676	0.2211	H	0.95365	3.66	0.42777	D	0.993851	D	0.76494	0.999	D	0.78314	0.991	T	0.71500	-0.4574	9	0.72032	D	0.01	.	11.7681	0.51943	0.0:1.0:0.0:0.0	.	57	Q8NH16	OR2L2_HUMAN	A	57	ENSP00000355435:P57A	ENSP00000355435:P57A	P	+	1	0	OR2L2	246268361	0.995000	0.38212	0.966000	0.40874	0.133000	0.20885	5.557000	0.67313	1.016000	0.39470	0.194000	0.17425	CCT		PASS	0.373	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		22	170	22	170	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570189	248570189	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:248570189G>A	ENST00000366474.1	+	1	894	c.894G>A	c.(892-894)gtG>gtA	p.V298V		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V298V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TGACTGTGGTGTCCTTGTTCT	0.512																																						uc010pzm.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(892-894)GTG>GTA		olfactory receptor, family 2, subfamily T,							234.0	192.0	206.0					1																	248570189		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248570189G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.894G>A	1.37:g.248570189G>A							p.V298V	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	894	+	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)		298			Helical; Name=6; (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.894G>A	CCDS31115.1																																																																																				PASS	0.512	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			43	59	43	59	---	---	---	---
TMEM18	129787	broad.mit.edu	37	2	669658	669658	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:669658C>T	ENST00000281017.3	-	5	438	c.345G>A	c.(343-345)aaG>aaA	p.K115K	TMEM18_ENST00000405941.3_Silent_p.K118K|TMEM18_ENST00000355654.2_Silent_p.K102K	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	115	DNA-binding.				cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.K115K(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CATTCAAAGTCTTCCATACCC	0.393																																						uc002qwl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(343-345)AAG>AAA		transmembrane protein 18							147.0	142.0	143.0					2																	669658		2203	4300	6503	SO:0001819	synonymous_variant	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:669658C>T	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.345G>A	2.37:g.669658C>T						TMEM18_uc002qwk.2_RNA	p.K115K	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	5	439	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)	115					D6W4X9|Q8N5H2|Q9NTH3	Silent	SNP	ENST00000281017.3	37	c.345G>A	CCDS33141.1																																																																																				PASS	0.393	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834		22	53	22	53	---	---	---	---
RNF144A	9781	broad.mit.edu	37	2	7137071	7137071	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:7137071G>C	ENST00000320892.6	+	3	456	c.14G>C	c.(13-15)aGg>aCg	p.R5T	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	5					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R5T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACCACAACAAGGTACCGGCCC	0.607																																						uc002qys.2																			1	Substitution - Missense(1)	p.R5R(1)	lung(1)	ovary(1)|kidney(1)	2						c.(13-15)AGG>ACG		ring finger protein 144							90.0	82.0	85.0					2																	7137071		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7137071G>C	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.14G>C	2.37:g.7137071G>C	ENSP00000321330:p.Arg5Thr					RNF144A_uc002qyt.2_Intron	p.R5T	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	3	456	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	5					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.14G>C	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.63|18.63	3.665709|3.665709	0.67700|0.67700	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000432850|ENST00000320892;ENST00000427092;ENST00000416587;ENST00000433456	.|T;T;T	.|0.51817	.|0.69;0.69;0.69	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.133207	.|0.64402	.|D	.|0.000003	T|T	0.42765|0.42765	0.1217|0.1217	N|N	0.25647|0.25647	0.755|0.755	0.80722|0.80722	D|D	1|1	.|D	.|0.53885	.|0.963	.|B	.|0.44224	.|0.444	T|T	0.33954|0.33954	-0.9848|-0.9848	5|10	.|0.46703	.|T	.|0.11	.|.	20.0247|20.0247	0.97519|0.97519	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5	.|P50876	.|R144A_HUMAN	R|T	1|5	.|ENSP00000321330:R5T;ENSP00000414420:R5T;ENSP00000402645:R5T	.|ENSP00000321330:R5T	G|R	+|+	1|2	0|0	RNF144A|RNF144A	7054522|7054522	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.991000|0.991000	0.79684|0.79684	7.472000|7.472000	0.80996|0.80996	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	GGT|AGG		PASS	0.607	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		4	63	4	63	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11758996	11758996	+	Missense_Mutation	SNP	G	G	T	rs371147515		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:11758996G>T	ENST00000381486.2	+	22	4295	c.3995G>T	c.(3994-3996)cGc>cTc	p.R1332L	GREB1_ENST00000234142.5_Missense_Mutation_p.R1332L|GREB1_ENST00000396123.1_Missense_Mutation_p.R330L	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1332						integral component of membrane (GO:0016021)		p.R1332L(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCGAGGGCCGCGTGGACGGC	0.701																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3994-3996)CGC>CTC		growth regulation by estrogen in breast cancer 1							10.0	11.0	11.0					2																	11758996		1975	4126	6101	SO:0001583	missense	9687					integral to membrane		g.chr2:11758996G>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3995G>T	2.37:g.11758996G>T	ENSP00000370896:p.Arg1332Leu					GREB1_uc002rbp.1_Missense_Mutation_p.R330L	p.R1332L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	4295	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1332					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3995G>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975436	0.53720	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.23754	3.2;3.2;1.89	4.78	3.9	0.45041	.	0.106581	0.64402	D	0.000011	T	0.29556	0.0737	M	0.61703	1.905	0.54753	D	0.999985	B	0.25390	0.125	B	0.29942	0.109	T	0.08249	-1.0731	10	0.49607	T	0.09	-38.7473	12.8558	0.57884	0.0799:0.0:0.9201:0.0	.	1332	Q4ZG55	GREB1_HUMAN	L	1332;1332;330	ENSP00000370896:R1332L;ENSP00000234142:R1332L;ENSP00000379429:R330L	ENSP00000234142:R1332L	R	+	2	0	GREB1	11676447	1.000000	0.71417	0.738000	0.30950	0.943000	0.58893	4.085000	0.57657	1.011000	0.39340	0.551000	0.68910	CGC		PASS	0.701	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		7	21	7	21	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20131147	20131147	+	Silent	SNP	T	T	C	rs373983961		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:20131147T>C	ENST00000345530.3	-	25	2995	c.2880A>G	c.(2878-2880)aaA>aaG	p.K960K	WDR35_ENST00000281405.4_Silent_p.K949K|WDR35_ENST00000416055.2_Silent_p.K433K	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	960					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.K960K(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTACTTCCTTTCTTTGCCT	0.343																																						uc002rdi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2878-2880)AAA>AAG		WD repeat domain 35 isoform 1		T	,	0,4406		0,0,2203	173.0	172.0	173.0		2880,2847	-2.1	0.9	2		173	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WDR35	NM_001006657.1,NM_020779.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	960/1182,949/1171	20131147	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57539							g.chr2:20131147T>C	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.2880A>G	2.37:g.20131147T>C						WDR35_uc002rdj.2_Silent_p.K949K|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Silent_p.K433K	p.K960K	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			25	2988	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		960					B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	ENST00000345530.3	37	c.2880A>G	CCDS33152.1																																																																																				PASS	0.343	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		3	39	3	39	---	---	---	---
SNX17	9784	broad.mit.edu	37	2	27599539	27599539	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:27599539G>T	ENST00000233575.2	+	15	1588	c.1366G>T	c.(1366-1368)Gtc>Ttc	p.V456F	SNX17_ENST00000543024.1_Missense_Mutation_p.V242F|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000537606.1_Missense_Mutation_p.V431F|SNX17_ENST00000542478.1_Missense_Mutation_p.V242F	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	456					cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)	p.V456F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAGTGATGTCCACGGCAA	0.532																																						uc002rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1366-1368)GTC>TTC		sorting nexin 17							119.0	105.0	110.0					2																	27599539		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27599539G>T	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1366G>T	2.37:g.27599539G>T	ENSP00000233575:p.Val456Phe					SNX17_uc010ylj.1_Missense_Mutation_p.V436F|SNX17_uc010ylk.1_Missense_Mutation_p.V242F|SNX17_uc010eza.1_Missense_Mutation_p.V242F|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_Missense_Mutation_p.V242F|SNX17_uc010yll.1_Missense_Mutation_p.V242F|SNX17_uc010ylm.1_Missense_Mutation_p.V242F|SNX17_uc010yln.1_Missense_Mutation_p.V444F|SNX17_uc010ylo.1_Missense_Mutation_p.V374F|SNX17_uc010ylp.1_Missense_Mutation_p.V431F|SNX17_uc010ylq.1_Missense_Mutation_p.V242F	p.V456F	NM_014748	NP_055563	Q15036	SNX17_HUMAN			15	1588	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		456					B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	ENST00000233575.2	37	c.1366G>T	CCDS1750.1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197913	0.22037	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.35236	1.76;1.32;1.34;1.32	5.31	4.44	0.53790	.	0.098183	0.64402	D	0.000001	T	0.11793	0.0287	N	0.00926	-1.1	0.31946	N	0.61036	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.08055	0.0;0.0;0.0;0.003	T	0.05178	-1.0901	10	0.33940	T	0.23	-5.2857	6.7415	0.23439	0.088:0.0:0.7374:0.1746	.	431;444;436;456	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	F	456;242;431;242	ENSP00000233575:V456F;ENSP00000441779:V242F;ENSP00000439208:V431F;ENSP00000442567:V242F	ENSP00000233575:V456F	V	+	1	0	SNX17	27453043	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	5.670000	0.68088	1.483000	0.48342	0.561000	0.74099	GTC		PASS	0.532	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		39	48	39	48	---	---	---	---
SPAST	6683	broad.mit.edu	37	2	32361662	32361662	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:32361662C>G	ENST00000315285.3	+	10	1401	c.1276C>G	c.(1276-1278)Ctt>Gtt	p.L426V	SPAST_ENST00000345662.1_Missense_Mutation_p.L394V	NM_014946.3	NP_055761.2			spastin									p.L426V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTGAGGGCTCTTTTTGCTGT	0.323																																						uc002roc.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1	GRCh37	CD052507|CM000436	SPAST	D|M		c.(1276-1278)CTT>GTT		spastin isoform 1							126.0	130.0	129.0					2																	32361662		2203	4300	6503	SO:0001583	missense	6683				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity	g.chr2:32361662C>G	AJ246001	CCDS1778.1, CCDS1779.1	2p24-p21	2014-09-17	2005-03-15	2005-03-17	ENSG00000021574	ENSG00000021574		"""ATPases / AAA-type"""	11233	protein-coding gene	gene with protein product		604277	"""spastic paraplegia 4 (autosomal dominant; spastin)"""	SPG4		10493830, 10610178	Standard	NM_014946		Approved	FSP2, ADPSP, KIAA1083	uc002roc.3	Q9UBP0	OTTHUMG00000128455	ENST00000315285.3:c.1276C>G	2.37:g.32361662C>G	ENSP00000320885:p.Leu426Val					SPAST_uc002rod.2_Missense_Mutation_p.L394V	p.L426V	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN			10	1497	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		426		L -> V (in SPG4; promotes microtubule binding and the formation of thick microtubule bundles).	Sufficient for microtubule severing.			Missense_Mutation	SNP	ENST00000315285.3	37	c.1276C>G	CCDS1778.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391705	0.83011	.	.	ENSG00000021574	ENST00000345662;ENST00000315285	D;D	0.95272	-3.66;-3.66	5.62	5.62	0.85841	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	L	0.43701	1.375	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.76575	0.975;0.988	D	0.96388	0.9287	10	0.87932	D	0	-26.1356	17.4494	0.87588	0.0:1.0:0.0:0.0	.	394;426	E5KRP6;Q9UBP0	.;SPAST_HUMAN	V	394;426	ENSP00000340817:L394V;ENSP00000320885:L426V	ENSP00000320885:L426V	L	+	1	0	SPAST	32215166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.502000	0.73695	2.660000	0.90430	0.655000	0.94253	CTT		PASS	0.323	SPAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250253.1	NM_199436		12	94	12	94	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40656652	40656652	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:40656652G>A	ENST00000403092.1	-	2	802	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	SLC8A1_ENST00000406785.2_Silent_p.L257L|SLC8A1_ENST00000332839.4_Silent_p.L257L|SLC8A1_ENST00000542756.1_Silent_p.L257L|SLC8A1_ENST00000542024.1_Silent_p.L257L|SLC8A1_ENST00000405269.1_Silent_p.L257L|SLC8A1_ENST00000406391.2_Silent_p.L257L|SLC8A1_ENST00000408028.2_Silent_p.L257L|SLC8A1_ENST00000405901.3_Silent_p.L257L|SLC8A1_ENST00000402441.1_Silent_p.L257L			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	257	Calmodulin-binding. {ECO:0000255}.				blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.L257L(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTGTAAAACAGAAGTCTCCTA	0.448																																						uc002rrx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(769-771)CTG>TTG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						107.0	106.0	106.0					2																	40656652		2203	4300	6503	SO:0001819	synonymous_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656652G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.769C>T	2.37:g.40656652G>A						SLC8A1_uc002rry.2_Silent_p.L257L|SLC8A1_uc002rrz.2_Silent_p.L257L|SLC8A1_uc002rsa.2_Silent_p.L257L|SLC8A1_uc002rsd.3_Silent_p.L257L|SLC8A1_uc002rsb.1_Silent_p.L257L|SLC8A1_uc010fan.1_Silent_p.L257L|SLC8A1_uc002rsc.1_Silent_p.L257L	p.L257L	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	793	-			257			Calmodulin-binding (Potential).|Cytoplasmic (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Silent	SNP	ENST00000403092.1	37	c.769C>T	CCDS1806.1																																																																																				PASS	0.448	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		15	128	15	128	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452225	43452225	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:43452225C>T	ENST00000282388.3	-	2	1011	c.718G>A	c.(718-720)Gat>Aat	p.D240N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	240					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D240N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.746																																						uc002rsv.3																			2	Substitution - Missense(2)		lung(2)		0						c.(718-720)GAT>AAT		zinc finger protein 36, C3H type-like 2							8.0	13.0	11.0					2																	43452225		2087	4165	6252	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452225C>T	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.718G>A	2.37:g.43452225C>T	ENSP00000282388:p.Asp240Asn					LOC100129726_uc010ynx.1_5'Flank	p.D240N	NM_006887	NP_008818	P47974	TISD_HUMAN			2	1009	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	240					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.718G>A	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	9.356	1.066797	0.20067	.	.	ENSG00000152518	ENST00000282388	T	0.46063	0.88	3.84	2.95	0.34219	.	0.483859	0.17871	N	0.159164	T	0.19565	0.0470	N	0.14661	0.345	0.80722	D	1	P	0.39782	0.688	B	0.25291	0.059	T	0.03875	-1.0996	10	0.34782	T	0.22	-17.6614	9.8893	0.41281	0.2048:0.7952:0.0:0.0	.	240	P47974	TISD_HUMAN	N	240	ENSP00000282388:D240N	ENSP00000282388:D240N	D	-	1	0	ZFP36L2	43305729	0.770000	0.28543	0.123000	0.21794	0.003000	0.03518	3.246000	0.51414	0.800000	0.34041	-0.314000	0.08810	GAT		PASS	0.746	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		5	43	5	43	---	---	---	---
THADA	63892	broad.mit.edu	37	2	43520205	43520205	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:43520205G>A	ENST00000405006.4	-	32	4937	c.4586C>T	c.(4585-4587)gCc>gTc	p.A1529V	THADA_ENST00000415080.2_Missense_Mutation_p.A1210V|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.A1529V	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1529	Poly-Ala.							p.A1529V(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGCTGCCGCGGCCCACACTGC	0.577																																						uc002rsw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4585-4587)GCC>GTC		thyroid adenoma associated							41.0	45.0	43.0					2																	43520205		1964	4154	6118	SO:0001583	missense	63892						binding	g.chr2:43520205G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4586C>T	2.37:g.43520205G>A	ENSP00000385995:p.Ala1529Val					THADA_uc010far.2_Missense_Mutation_p.A724V|THADA_uc002rsx.3_Missense_Mutation_p.A1529V|THADA_uc002rsy.3_RNA	p.A1529V	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			32	4938	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1529			Poly-Ala.		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.4586C>T	CCDS46268.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.41|12.41	1.928693|1.928693	0.34002|0.34002	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006|ENST00000407351	T;T;T|.	0.12569|.	2.87;2.67;2.87|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.622268|.	0.16297|.	N|.	0.220660|.	T|T	0.41026|0.41026	0.1141|0.1141	L|L	0.29908|0.29908	0.895|0.895	0.25418|0.25418	N|N	0.988291|0.988291	B;B|.	0.25850|.	0.136;0.024|.	B;B|.	0.17979|.	0.02;0.007|.	T|T	0.29058|0.29058	-1.0024|-1.0024	10|5	0.27785|.	T|.	0.31|.	.|.	15.9151|15.9151	0.79508|0.79508	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1456;1529|.	B6ZDQ0;Q6YHU6|.	.;THADA_HUMAN|.	V|S	1529;1456;1210;1529|769	ENSP00000386088:A1529V;ENSP00000416048:A1210V;ENSP00000385995:A1529V|.	ENSP00000349464:A1456V|.	A|P	-|-	2|1	0|0	THADA|THADA	43373709|43373709	0.964000|0.964000	0.33143|0.33143	0.671000|0.671000	0.29857|0.29857	0.086000|0.086000	0.17979|0.17979	3.417000|3.417000	0.52714|0.52714	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	GCC|CCG		PASS	0.577	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065		11	91	11	91	---	---	---	---
SOCS5	9655	broad.mit.edu	37	2	46986955	46986955	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:46986955G>T	ENST00000306503.5	+	2	1458	c.1286G>T	c.(1285-1287)cGa>cTa	p.R429L	SOCS5_ENST00000394861.2_Missense_Mutation_p.R429L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	429	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)	p.R429L(1)|p.R429Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGCATGCCCGAATTGAGCAG	0.498																																						uc002rvf.2																			2	Substitution - Missense(2)	p.R429*(1)|p.R429Q(1)	ovary(1)|lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1285-1287)CGA>CTA		suppressor of cytokine signaling 5							103.0	101.0	102.0					2																	46986955		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986955G>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1286G>T	2.37:g.46986955G>T	ENSP00000305133:p.Arg429Leu					SOCS5_uc010yoe.1_Missense_Mutation_p.R398L|SOCS5_uc002rvg.2_Missense_Mutation_p.R429L	p.R429L	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1450	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	429			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1286G>T	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382855	0.42207	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89485	-2.52;-2.52	5.43	3.64	0.41730	SH2 motif (4);	0.056973	0.64402	D	0.000001	D	0.91583	0.7341	M	0.80982	2.52	0.80722	D	1	P	0.50272	0.933	P	0.51895	0.683	D	0.91640	0.5326	10	0.87932	D	0	-11.2549	11.8239	0.52256	0.1425:0.0:0.8575:0.0	.	429	O75159	SOCS5_HUMAN	L	429	ENSP00000305133:R429L;ENSP00000378330:R429L	ENSP00000305133:R429L	R	+	2	0	SOCS5	46840459	1.000000	0.71417	0.715000	0.30552	0.898000	0.52572	9.657000	0.98554	0.867000	0.35654	-0.136000	0.14681	CGA		PASS	0.498	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			63	77	63	77	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55795348	55795348	+	Missense_Mutation	SNP	C	C	G	rs143418918	byFrequency	TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:55795348C>G	ENST00000345102.5	-	13	2218	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	SMEK2_ENST00000272313.5_Missense_Mutation_p.L554F|SMEK2_ENST00000407823.3_Missense_Mutation_p.L607F|SNORA12_ENST00000390873.1_RNA	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	639					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.L554F(1)|p.L639F(1)		kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAATTCAAACAACTCAATAA	0.279																																						uc002rzc.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1915-1917)TTG>TTC		SMEK homolog 2, suppressor of mek1 isoform 1							47.0	46.0	47.0					2																	55795348		2201	4296	6497	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55795348C>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1917G>C	2.37:g.55795348C>G	ENSP00000339769:p.Leu639Phe					SMEK2_uc002rzb.2_Missense_Mutation_p.L554F|SMEK2_uc002rzd.2_Missense_Mutation_p.L607F|SMEK2_uc002ryz.2_Missense_Mutation_p.L73F|SMEK2_uc002rza.2_Missense_Mutation_p.L430F	p.L639F	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		13	2292	-			639					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.1917G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107075	0.37145	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;D	0.94497	1.33;-0.24;-3.44	5.48	1.19	0.21007	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.90992	0.7167	L	0.58101	1.795	0.58432	D	0.999998	B;B;B;B;B	0.30326	0.017;0.012;0.037;0.276;0.115	B;B;B;B;B	0.36989	0.041;0.027;0.065;0.112;0.238	D	0.83873	0.0275	10	0.35671	T	0.21	-6.9445	3.6954	0.08362	0.2991:0.4277:0.0:0.2731	.	607;639;554;639;73	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9;Q5MIZ7-5	.;P4R3B_HUMAN;.;.;.	F	554;607;639	ENSP00000272313:L554F;ENSP00000385912:L607F;ENSP00000339769:L639F	ENSP00000272313:L554F	L	-	3	2	SMEK2	55648852	0.665000	0.27466	1.000000	0.80357	0.999000	0.98932	-0.206000	0.09398	0.514000	0.28300	0.655000	0.94253	TTG		PASS	0.279	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		6	30	6	30	---	---	---	---
IMMT	10989	broad.mit.edu	37	2	86374846	86374846	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:86374846T>A	ENST00000410111.3	-	13	1899	c.1512A>T	c.(1510-1512)gaA>gaT	p.E504D	IMMT_ENST00000449247.2_Missense_Mutation_p.E493D|IMMT_ENST00000254636.5_Missense_Mutation_p.E405D|IMMT_ENST00000442664.2_Missense_Mutation_p.E503D|IMMT_ENST00000409051.2_Missense_Mutation_p.E457D	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	504					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.E504D(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGACTTCAATTCCTGTTCTT	0.488																																						uc002sqz.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1510-1512)GAA>GAT		inner membrane protein, mitochondrial isoform 1							110.0	109.0	109.0					2																	86374846		1983	4159	6142	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86374846T>A	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1512A>T	2.37:g.86374846T>A	ENSP00000387262:p.Glu504Asp					IMMT_uc002sqy.3_Missense_Mutation_p.E245D|IMMT_uc002srb.3_Missense_Mutation_p.E493D|IMMT_uc002sra.3_Missense_Mutation_p.E503D|IMMT_uc010ytd.1_Missense_Mutation_p.E492D|IMMT_uc010yte.1_Missense_Mutation_p.E457D|IMMT_uc002src.1_Missense_Mutation_p.E240D	p.E504D	NM_006839	NP_006830	Q16891	IMMT_HUMAN			13	1900	-			504			Mitochondrial intermembrane (Potential).		B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1512A>T	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.76|16.76	3.211424|3.211424	0.58343|0.58343	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.39592|.	1.07;1.07;1.07;1.07;1.07|.	6.17|6.17	-5.55|-5.55	0.02536|0.02536	.|.	0.043887|.	0.85682|.	N|.	0.000000|.	T|T	0.51635|0.51635	0.1686|0.1686	L|L	0.59436|0.59436	1.845|1.845	0.53688|0.53688	D|D	0.999973|0.999973	B;B;B;B;B;B|.	0.20052|.	0.011;0.041;0.041;0.033;0.033;0.041|.	B;B;B;B;B;B|.	0.30716|.	0.044;0.119;0.119;0.072;0.059;0.119|.	T|T	0.54589|0.54589	-0.8271|-0.8271	10|5	0.37606|.	T|.	0.19|.	-23.3444|-23.3444	4.7565|4.7565	0.13086|0.13086	0.0876:0.4123:0.1783:0.3218|0.0876:0.4123:0.1783:0.3218	.|.	457;492;406;493;472;504|.	B9A067;B4DKR1;B4DS66;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;.;IMMT_HUMAN|.	D|F	405;493;504;503;457;493;472;405|359	ENSP00000254636:E405D;ENSP00000396899:E493D;ENSP00000387262:E504D;ENSP00000407788:E503D;ENSP00000387227:E457D|.	ENSP00000254636:E405D|.	E|I	-|-	3|1	2|0	IMMT|IMMT	86228357|86228357	0.563000|0.563000	0.26594|0.26594	0.898000|0.898000	0.35279|0.35279	0.981000|0.981000	0.71138|0.71138	-0.172000|-0.172000	0.09868|0.09868	-0.887000|-0.887000	0.03961|0.03961	-0.250000|-0.250000	0.11733|0.11733	GAA|ATT		PASS	0.488	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		10	87	10	87	---	---	---	---
IGKV1-27	28935	broad.mit.edu	37	2	89513339	89513339	+	RNA	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:89513339A>T	ENST00000498435.1	-	0	74									immunoglobulin kappa variable 1-27																		TGGGAGCCAGAGCAGCAGGAG	0.473																																						uc010ytr.1																			0													Parts of antibodies, mostly variable regions.							72.0	73.0	73.0					2																	89513339		1865	4103	5968			0							g.chr2:89513339A>T	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89513339A>T						uc002stl.2_Intron								22		-									RNA	SNP	ENST00000498435.1	37	c.2673T>A																																																																																					PASS	0.473	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		14	128	14	128	---	---	---	---
ARID5A	10865	broad.mit.edu	37	2	97217930	97217930	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:97217930C>T	ENST00000357485.3	+	7	1743	c.1665C>T	c.(1663-1665)ccC>ccT	p.P555P	ARID5A_ENST00000454558.2_Silent_p.P487P	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	555					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P555P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGCACTTCCCCCCAACGTCCT	0.677																																						uc002swe.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1663-1665)CCC>CCT		AT rich interactive domain 5A							93.0	94.0	94.0					2																	97217930		2203	4300	6503	SO:0001819	synonymous_variant	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97217930C>T	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.1665C>T	2.37:g.97217930C>T						ARID5A_uc010yuq.1_Silent_p.P503P|ARID5A_uc002swf.2_Silent_p.P391P|ARID5A_uc002swg.2_Silent_p.P503P	p.P555P	NM_212481	NP_997646	Q03989	ARI5A_HUMAN			7	1765	+			555					Q6NX37	Silent	SNP	ENST00000357485.3	37	c.1665C>T	CCDS33251.1																																																																																				PASS	0.677	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		50	102	50	102	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102644717	102644717	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:102644717C>T	ENST00000332549.3	+	9	1289	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.L354L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	354					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.L354L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						GGGCATTGTGCTGGCCCCACT	0.532																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1060-1062)CTG>TTG		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						115.0	105.0	108.0					2																	102644717		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102644717C>T	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1060C>T	2.37:g.102644717C>T						IL1R2_uc002tbn.2_Silent_p.L354L	p.L354L	NM_004633	NP_004624	P27930	IL1R2_HUMAN			9	1289	+			354			Helical; (Potential).		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.1060C>T	CCDS2054.1																																																																																				PASS	0.532	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		56	69	56	69	---	---	---	---
GTDC1	79712	broad.mit.edu	37	2	144764930	144764930	+	Missense_Mutation	SNP	G	G	C	rs536703114		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:144764930G>C	ENST00000392869.2	-	6	846	c.694C>G	c.(694-696)Cga>Gga	p.R232G	GTDC1_ENST00000542155.1_Missense_Mutation_p.R232G|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000392867.3_Missense_Mutation_p.R232G|GTDC1_ENST00000409214.1_Missense_Mutation_p.R232G|GTDC1_ENST00000463875.2_Missense_Mutation_p.R103G|GTDC1_ENST00000344850.4_Missense_Mutation_p.R232G|GTDC1_ENST00000241391.5_Missense_Mutation_p.R232G	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	232					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.R232G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TATTCTTGTCGTGCAGTATCA	0.388																																						uc002tvp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(694-696)CGA>GGA		glycosyltransferase-like domain containing 1							111.0	109.0	109.0					2																	144764930		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144764930G>C	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.694C>G	2.37:g.144764930G>C	ENSP00000376608:p.Arg232Gly					GTDC1_uc002tvo.2_Missense_Mutation_p.R232G|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.R232G|GTDC1_uc010fnn.2_Missense_Mutation_p.R232G|GTDC1_uc002tvs.2_Missense_Mutation_p.R200G|GTDC1_uc010fno.2_Missense_Mutation_p.R103G|GTDC1_uc002tvt.1_Missense_Mutation_p.R232G	p.R232G	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	973	-			232					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.694C>G	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285705	0.23478	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.89	4.89	0.63831	.	0.924725	0.09206	N	0.833944	T	0.37785	0.1016	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.17667	0.011;0.012;0.023;0.0	B;B;B;B	0.19148	0.024;0.017;0.011;0.001	T	0.14643	-1.0465	10	0.56958	D	0.05	-3.3526	11.2609	0.49083	0.0842:0.0:0.9158:0.0	.	232;232;232;232	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	G	232;232;232;232;232;232;103	ENSP00000376608:R232G;ENSP00000386581:R232G;ENSP00000376606:R232G;ENSP00000438323:R232G;ENSP00000241391:R232G;ENSP00000339750:R232G;ENSP00000437964:R103G	ENSP00000241391:R232G	R	-	1	2	GTDC1	144481400	0.902000	0.30710	0.016000	0.15963	0.015000	0.08874	3.479000	0.53165	2.695000	0.91970	0.655000	0.94253	CGA		PASS	0.388	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		27	49	27	49	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152289653	152289653	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:152289653A>G	ENST00000243326.5	+	9	1471	c.988A>G	c.(988-990)Aga>Gga	p.R330G	RIF1_ENST00000430328.2_Missense_Mutation_p.R330G|RIF1_ENST00000428287.2_Missense_Mutation_p.R330G|RIF1_ENST00000444746.2_Missense_Mutation_p.R330G|RIF1_ENST00000433166.2_Missense_Mutation_p.R299G|RIF1_ENST00000453091.2_Missense_Mutation_p.R330G			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.R330G(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CATCCATGTGAGAACAGAAAC	0.363																																						uc002txm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(988-990)AGA>GGA		RAP1 interacting factor 1							103.0	97.0	99.0					2																	152289653		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152289653A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.988A>G	2.37:g.152289653A>G	ENSP00000243326:p.Arg330Gly					RIF1_uc002txl.2_Missense_Mutation_p.R330G|RIF1_uc010fnv.1_Missense_Mutation_p.R294G|RIF1_uc002txn.2_Missense_Mutation_p.R330G|RIF1_uc002txo.2_Missense_Mutation_p.R330G|RIF1_uc010zby.1_RNA	p.R330G	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	10	1118	+			330					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.988A>G	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.80|19.80	3.895194|3.895194	0.72639|0.72639	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	.|T;T;T;T;T;T	.|0.49139	.|2.32;2.32;2.32;0.79;2.32;2.32	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69142|0.69142	0.3078|0.3078	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.993;0.999	T|T	0.73238|0.73238	-0.4046|-0.4046	5|10	.|0.87932	.|D	.|0	-12.3868|-12.3868	15.5347|15.5347	0.75993|0.75993	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|330;330	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	G|G	321|330;330;330;299;330;330	.|ENSP00000390181:R330G;ENSP00000414615:R330G;ENSP00000415691:R330G;ENSP00000396865:R299G;ENSP00000243326:R330G;ENSP00000416123:R330G	.|ENSP00000243326:R330G	E|R	+|+	2|1	0|2	RIF1|RIF1	151997899|151997899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	3.230000|3.230000	0.51286|0.51286	2.146000|2.146000	0.66826|0.66826	0.528000|0.528000	0.53228|0.53228	GAG|AGA		PASS	0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			20	50	20	50	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164466434	164466434	+	Silent	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:164466434T>A	ENST00000333129.3	-	3	2222	c.1908A>T	c.(1906-1908)atA>atT	p.I636I	FIGN_ENST00000482917.1_5'Flank|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	636					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.I636I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GGGATTCATCTATTTCTTCTG	0.453																																						uc002uck.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1906-1908)ATA>ATT		fidgetin							122.0	116.0	118.0					2																	164466434		1968	4140	6108	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466434T>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1908A>T	2.37:g.164466434T>A							p.I636I	NM_018086	NP_060556	Q5HY92	FIGN_HUMAN			3	2219	-			636					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1908A>T	CCDS2221.2																																																																																				PASS	0.453	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		10	108	10	108	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179396364	179396364	+	Missense_Mutation	SNP	G	G	T	rs368945564		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:179396364G>T	ENST00000591111.1	-	308	100279	c.100055C>A	c.(100054-100056)aCg>aAg	p.T33352K	TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26120K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34993K|TTN_ENST00000342992.6_Missense_Mutation_p.T32425K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26053K|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25928K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33352	Ig-like 146.				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.T32425M(2)|p.T26053M(2)|p.T25928M(2)|p.T32423M(2)|p.T26120M(2)|p.T32425K(1)|p.T25928K(1)|p.T26053K(1)|p.T32423K(1)|p.T26120K(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)			GACTCCACTCGTGTTGGTGTA	0.453																																						uc010zfg.1																			15	Substitution - Missense(15)		lung(15)	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.(97273-97275)ACG>AAG		titin isoform N2-A							135.0	130.0	132.0					2																	179396364		1959	4164	6123	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179396364G>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.100055C>A	2.37:g.179396364G>T	ENSP00000465570:p.Thr33352Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26120K|TTN_uc010zfi.1_Missense_Mutation_p.T26053K|TTN_uc010zfj.1_Missense_Mutation_p.T25928K|TTN_uc002umq.2_5'Flank	p.T32425K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	97498	-			33352					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.97274C>A		.	.	.	.	.	.	.	.	.	.	G	9.399	1.077391	0.20227	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.56	-0.226	0.13106	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51176	0.1659	L	0.28344	0.845	0.22226	N	0.999277	B;B;B;B	0.29612	0.251;0.251;0.251;0.251	B;B;B;B	0.34779	0.108;0.108;0.189;0.189	T	0.46034	-0.9220	9	0.87932	D	0	.	12.274	0.54724	0.3208:0.0:0.6792:0.0	.	25928;26053;26120;33352	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	32425;25928;26120;26053;25925	ENSP00000343764:T32425K;ENSP00000434586:T25928K;ENSP00000340554:T26120K;ENSP00000352154:T26053K	ENSP00000340554:T26120K	T	-	2	0	TTN	179104610	0.977000	0.34250	0.183000	0.23137	0.309000	0.27889	2.098000	0.41757	-0.703000	0.05049	-1.884000	0.00543	ACG		PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	63	35	63	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413276	179413276	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:179413276T>C	ENST00000591111.1	-	289	88378	c.88154A>G	c.(88153-88155)aAa>aGa	p.K29385R	TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22153R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K31026R|TTN_ENST00000342992.6_Missense_Mutation_p.K28458R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K22086R|TTN_ENST00000460472.2_Missense_Mutation_p.K21961R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29385	Fibronectin type-III 114. {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.K28458R(1)|p.K21961R(1)|p.K22086R(1)|p.K22153R(1)|p.K28456R(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)			GGTCACATCTTTGAAGGTAAT	0.483																																						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.(85372-85374)AAA>AGA		titin isoform N2-A							168.0	164.0	165.0					2																	179413276		1929	4142	6071	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413276T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88154A>G	2.37:g.179413276T>C	ENSP00000465570:p.Lys29385Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.K22153R|TTN_uc010zfi.1_Missense_Mutation_p.K22086R|TTN_uc010zfj.1_Missense_Mutation_p.K21961R	p.K28458R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85597	-			29385					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.85373A>G		.	.	.	.	.	.	.	.	.	.	T	15.48	2.846126	0.51164	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.65	4.5	0.54988	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47801	0.1465	L	0.51853	1.615	0.42913	D	0.994266	B;B;B;B	0.20550	0.046;0.046;0.046;0.046	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.46679	-0.9174	9	0.87932	D	0	.	11.4748	0.50291	0.0:0.0701:0.0:0.9299	.	21961;22086;22153;29385	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	28458;21961;22153;22086;21958	ENSP00000343764:K28458R;ENSP00000434586:K21961R;ENSP00000340554:K22153R;ENSP00000352154:K22086R	ENSP00000340554:K22153R	K	-	2	0	TTN	179121522	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.291000	0.72719	0.969000	0.38237	0.533000	0.62120	AAA		PASS	0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	206	29	206	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179443382	179443382	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:179443382A>T	ENST00000591111.1	-	271	63586	c.63362T>A	c.(63361-63363)cTa>cAa	p.L21121Q	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L13889Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L22762Q|TTN_ENST00000342992.6_Missense_Mutation_p.L20194Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L13822Q|TTN_ENST00000460472.2_Missense_Mutation_p.L13697Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21121	Fibronectin type-III 53. {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.L13822Q(1)|p.L20192Q(1)|p.L13697Q(1)|p.L13889Q(1)|p.L20194Q(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)			AGTCCAAGTTAGAGATACTGA	0.378																																						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.(60580-60582)CTA>CAA		titin isoform N2-A							67.0	66.0	66.0					2																	179443382		1850	4102	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179443382A>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.63362T>A	2.37:g.179443382A>T	ENSP00000465570:p.Leu21121Gln					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.L13889Q|TTN_uc010zfi.1_Missense_Mutation_p.L13822Q|TTN_uc010zfj.1_Missense_Mutation_p.L13697Q|uc002umv.1_5'Flank	p.L20194Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		270	60805	-			21121					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.60581T>A		.	.	.	.	.	.	.	.	.	.	A	14.09	2.431515	0.43122	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86293	0.5898	H	0.96805	3.885	0.58432	D	0.999999	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	0.90934	0.4792	9	0.87932	D	0	.	16.1054	0.81216	1.0:0.0:0.0:0.0	.	13697;13822;13889;21121	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	20194;13697;13889;13822;13695	ENSP00000343764:L20194Q;ENSP00000434586:L13697Q;ENSP00000340554:L13889Q;ENSP00000352154:L13822Q	ENSP00000340554:L13889Q	L	-	2	0	TTN	179151628	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.281000	0.95811	2.201000	0.70794	0.528000	0.53228	CTA		PASS	0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	28	5	28	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179451523	179451523	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:179451523G>A	ENST00000591111.1	-	258	59406	c.59182C>T	c.(59182-59184)Ccc>Tcc	p.P19728S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12496S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P21369S|TTN_ENST00000342992.6_Missense_Mutation_p.P18801S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12429S|TTN_ENST00000460472.2_Missense_Mutation_p.P12304S|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19728	Fibronectin type-III 43. {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.P18801S(1)|p.P18799S(1)|p.P12496S(1)|p.P12304S(1)|p.P12429S(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)			TTCCTTGGGGGATCCGGCTCA	0.408																																						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.(56401-56403)CCC>TCC		titin isoform N2-A							177.0	175.0	175.0					2																	179451523		1882	4114	5996	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451523G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59182C>T	2.37:g.179451523G>A	ENSP00000465570:p.Pro19728Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P12496S|TTN_uc010zfi.1_Missense_Mutation_p.P12429S|TTN_uc010zfj.1_Missense_Mutation_p.P12304S	p.P18801S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		257	56625	-			19728					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.56401C>T		.	.	.	.	.	.	.	.	.	.	G	21.6	4.170565	0.78452	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.06	6.06	0.98353	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76912	0.4054	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.76721	-0.2855	9	0.87932	D	0	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	12304;12429;12496;19728	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	18801;12304;12496;12429;12302	ENSP00000343764:P18801S;ENSP00000434586:P12304S;ENSP00000340554:P12496S;ENSP00000352154:P12429S	ENSP00000340554:P12496S	P	-	1	0	TTN	179159769	1.000000	0.71417	0.993000	0.49108	0.826000	0.46750	9.807000	0.99171	2.879000	0.98667	0.650000	0.86243	CCC		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	71	35	71	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	205969167	205969168	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:205969167_205969168GG>TT	ENST00000406610.2	+	5	729_730	c.522_523GG>TT	c.(520-525)ttGGaa>ttTTaa	p.174_175LE>F*	PARD3B_ENST00000462231.1_Nonsense_Mutation_p.174_175LE>F*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.174_175LE>F*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.174_175LE>F*|PARD3B_ENST00000349953.3_Nonsense_Mutation_p.174_175LE>F*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	174					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.L174_E175>F*(2)|p.E175*(2)|p.L174F(2)|p.E176*(1)|p.L175_E176>F*(1)|p.L175F(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGCAGAACTTGGAAGACAGAGA	0.361																																						uc002var.1																			9	Substitution - Missense(3)|Substitution - Nonsense(3)|Complex - compound substitution(3)		lung(9)	skin(2)|ovary(1)|breast(1)	4						c.(520-522)TTG>TTT|c.(523-525)GAA>TAA		par-3 partitioning defective 3 homolog B isoform																																				SO:0001587	stop_gained	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:205969167G>T|g.chr2:205969168G>T	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	Exception_encountered	2.37:g.205969167_205969168delinsTT	ENSP00000385848:p.L174_E175delinsF*					PARD3B_uc010fub.1_Missense_Mutation_p.L174F|PARD3B_uc002vao.1_Missense_Mutation_p.L174F|PARD3B_uc002vap.1_Missense_Mutation_p.L174F|PARD3B_uc002vaq.1_Missense_Mutation_p.L174F|PARD3B_uc010fub.1_Nonsense_Mutation_p.E175*|PARD3B_uc002vao.1_Nonsense_Mutation_p.E175*|PARD3B_uc002vap.1_Nonsense_Mutation_p.E175*|PARD3B_uc002vaq.1_Nonsense_Mutation_p.E175*	p.L174F|p.E175*	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	5	729|730	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	174|175					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000406610.2	37	c.522G>T|c.523G>T																																																																																					PASS	0.361	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		34	77|76	34	76	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216284091	216284091	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:216284091C>G	ENST00000359671.1	-	12	1958	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	FN1_ENST00000354785.4_Missense_Mutation_p.E565Q|FN1_ENST00000432072.2_Missense_Mutation_p.E565Q|FN1_ENST00000426059.1_Missense_Mutation_p.E565Q|FN1_ENST00000323926.6_Missense_Mutation_p.E565Q|FN1_ENST00000336916.4_Missense_Mutation_p.E565Q|FN1_ENST00000346544.3_Missense_Mutation_p.E565Q|FN1_ENST00000357009.2_Missense_Mutation_p.E565Q|FN1_ENST00000421182.1_Missense_Mutation_p.E565Q|FN1_ENST00000345488.5_Missense_Mutation_p.E565Q|FN1_ENST00000357867.4_Missense_Mutation_p.E565Q|FN1_ENST00000443816.1_Missense_Mutation_p.E565Q|FN1_ENST00000446046.1_Missense_Mutation_p.E565Q|FN1_ENST00000356005.4_Missense_Mutation_p.E565Q			P02751	FINC_HUMAN	fibronectin 1	565	Collagen-binding.|Fibronectin type-I 9. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.E565Q(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTCCCAGTCTCTGAATCCTGG	0.423																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(1693-1695)GAG>CAG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						100.0	93.0	96.0					2																	216284091		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216284091C>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.1693G>C	2.37:g.216284091C>G	ENSP00000352696:p.Glu565Gln					FN1_uc002vfb.2_Missense_Mutation_p.E565Q|FN1_uc002vfc.2_Missense_Mutation_p.E565Q|FN1_uc002vfd.2_Missense_Mutation_p.E565Q|FN1_uc002vfe.2_Missense_Mutation_p.E565Q|FN1_uc002vff.2_Missense_Mutation_p.E565Q|FN1_uc002vfg.2_Missense_Mutation_p.E565Q|FN1_uc002vfh.2_Missense_Mutation_p.E565Q|FN1_uc002vfi.2_Missense_Mutation_p.E565Q|FN1_uc002vfj.2_Missense_Mutation_p.E565Q|FN1_uc002vfl.2_Missense_Mutation_p.E565Q	p.E565Q	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	12	1959	-		Renal(323;0.127)	565			Fibronectin type-I 9.|Collagen-binding.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.1693G>C		.	.	.	.	.	.	.	.	.	.	C	25.7	4.667241	0.88251	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94;0.94	6.06	6.06	0.98353	.	0.077819	0.53938	D	0.000059	T	0.62998	0.2474	L	0.55834	1.745	0.80722	D	1	P;D;P;P;B;B;P;D;B;B;D	0.71674	0.678;0.996;0.793;0.856;0.149;0.18;0.949;0.998;0.149;0.149;0.992	P;D;P;P;B;B;P;D;B;B;D	0.79784	0.606;0.988;0.526;0.538;0.023;0.039;0.694;0.993;0.023;0.023;0.991	T	0.57705	-0.7765	10	0.48119	T	0.1	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	565;565;565;565;565;565;565;565;565;565;565	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	Q	565	ENSP00000394423:E565Q;ENSP00000323534:E565Q;ENSP00000338200:E565Q;ENSP00000350534:E565Q;ENSP00000346839:E565Q;ENSP00000352696:E565Q;ENSP00000265312:E565Q;ENSP00000273049:E565Q;ENSP00000349509:E565Q;ENSP00000410422:E565Q;ENSP00000415018:E565Q;ENSP00000399538:E565Q;ENSP00000348285:E565Q;ENSP00000398907:E565Q	ENSP00000265313:E565Q	E	-	1	0	FN1	215992336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.247000	0.72411	2.882000	0.98803	0.655000	0.94253	GAG		PASS	0.423	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		5	49	5	49	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	228009244	228009244	+	Missense_Mutation	SNP	T	T	G	rs3817617	byFrequency	TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:228009244T>G	ENST00000396625.3	-	3	309	c.102A>C	c.(100-102)caA>caC	p.Q34H	COL4A4_ENST00000329662.7_Missense_Mutation_p.Q34H	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	34					axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.Q34H(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CATATACATATTGTACAGAAA	0.299																																						uc010zlt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(100-102)CAA>CAC		alpha 4 type IV collagen precursor							88.0	83.0	85.0					2																	228009244		1815	4072	5887	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:228009244T>G		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.102A>C	2.37:g.228009244T>G	ENSP00000379866:p.Gln34His						p.Q34H	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	3	756	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	34					A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.102A>C	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	3.244	-0.154758	0.06544	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.90504	-2.68;-2.63	4.71	-0.709	0.11237	.	.	.	.	.	T	0.79003	0.4373	N	0.19112	0.55	0.20926	N	0.999827	B	0.02656	0.0	B	0.04013	0.001	T	0.63554	-0.6611	9	0.40728	T	0.16	.	1.8698	0.03206	0.156:0.0917:0.3087:0.4436	.	34	P53420	CO4A4_HUMAN	H	34	ENSP00000379866:Q34H;ENSP00000328553:Q34H	ENSP00000328553:Q34H	Q	-	3	2	COL4A4	227717488	0.765000	0.28485	0.028000	0.17463	0.032000	0.12392	0.149000	0.16243	-0.270000	0.09285	-0.444000	0.05651	CAA		PASS	0.299	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		22	74	22	74	---	---	---	---
DAW1	164781	broad.mit.edu	37	2	228770965	228770965	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:228770965T>A	ENST00000309931.2	+	9	852	c.769T>A	c.(769-771)Tta>Ata	p.L257I	DAW1_ENST00000373666.2_Missense_Mutation_p.L257I|DAW1_ENST00000545118.1_Missense_Mutation_p.L242I	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	257						cilium (GO:0005929)		p.L257I(1)									GGTAAATATCTTAATTGGTCA	0.358																																						uc002vpn.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(769-771)TTA>ATA		WD repeat domain 69							159.0	161.0	160.0					2																	228770965		2203	4300	6503	SO:0001583	missense	164781							g.chr2:228770965T>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.769T>A	2.37:g.228770965T>A	ENSP00000311899:p.Leu257Ile					WDR69_uc010zlw.1_Missense_Mutation_p.L242I|WDR69_uc002vpo.1_RNA	p.L257I	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	9	848	+		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)	257					Q6ZRY1|Q8N776	Missense_Mutation	SNP	ENST00000309931.2	37	c.769T>A	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460160	0.43736	.	.	ENSG00000123977	ENST00000373666;ENST00000309931;ENST00000545118	T;T;T	0.67345	-0.26;-0.26;-0.26	5.63	0.603	0.17541	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.151725	0.41001	D	0.000967	T	0.72104	0.3419	L	0.52759	1.655	0.39876	D	0.973572	D	0.71674	0.998	D	0.71656	0.974	T	0.70226	-0.4930	10	0.62326	D	0.03	.	9.029	0.36247	0.0:0.3814:0.0:0.6186	.	257	Q8N136	WDR69_HUMAN	I	257;257;242	ENSP00000362770:L257I;ENSP00000311899:L257I;ENSP00000437887:L242I	ENSP00000311899:L257I	L	+	1	2	WDR69	228479209	0.404000	0.25328	0.208000	0.23602	0.415000	0.31203	0.191000	0.17076	-0.114000	0.11936	0.260000	0.18958	TTA		PASS	0.358	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		39	61	39	61	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881326	228881326	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:228881326T>A	ENST00000392056.3	-	7	4290	c.4244A>T	c.(4243-4245)aAc>aTc	p.N1415I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N1415I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1415						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N1415I(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)		CCTTTTGTGGTTTATTGGTAC	0.468																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4243-4245)AAC>ATC		sphingosine kinase type 1-interacting protein							85.0	89.0	88.0					2																	228881326		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881326T>A		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.4244A>T	2.37:g.228881326T>A	ENSP00000375909:p.Asn1415Ile					SPHKAP_uc002vpp.2_Missense_Mutation_p.N1415I|SPHKAP_uc010zlx.1_Missense_Mutation_p.N1415I	p.N1415I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4291	-		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)	1415					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4244A>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607359	0.46527	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12255	2.7;2.7	5.66	-2.53	0.06326	.	0.976288	0.08493	N	0.937631	T	0.14227	0.0344	L	0.44542	1.39	0.09310	N	1	B;P;D	0.54397	0.29;0.855;0.966	B;B;P	0.48227	0.095;0.271;0.571	T	0.18777	-1.0326	10	0.44086	T	0.13	.	6.6839	0.23134	0.1135:0.4751:0.0:0.4114	.	446;1415;1415	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	I	1415	ENSP00000375909:N1415I;ENSP00000339886:N1415I	ENSP00000339886:N1415I	N	-	2	0	SPHKAP	228589570	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-0.115000	0.10741	-0.842000	0.04195	0.533000	0.62120	AAC		PASS	0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		59	90	59	90	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52526092	52526092	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:52526092C>G	ENST00000479054.1	+	22	4181	c.4109C>G	c.(4108-4110)cCc>cGc	p.P1370R	NISCH_ENST00000345716.4_Missense_Mutation_p.P1370R			Q9Y2I1	NISCH_HUMAN	nischarin	1370					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.P1370R(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCCTGCGCCCCAAGACACTC	0.652																																						uc011beg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(4108-4110)CCC>CGC		nischarin							33.0	40.0	37.0					3																	52526092		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526092C>G	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4109C>G	3.37:g.52526092C>G	ENSP00000418232:p.Pro1370Arg					NISCH_uc003ded.3_Missense_Mutation_p.P1370R|NISCH_uc003dee.3_Missense_Mutation_p.P859R|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Missense_Mutation_p.P119R	p.P1370R	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	22	4181	+			1370					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4109C>G	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311723	0.81358	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.18810	2.19;2.19	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21621	-1.0240	10	0.87932	D	0	-30.3544	18.9087	0.92474	0.0:1.0:0.0:0.0	.	1370	Q9Y2I1	NISCH_HUMAN	R	1370;1370;294;714	ENSP00000418232:P1370R;ENSP00000339958:P1370R	ENSP00000339958:P1370R	P	+	2	0	NISCH	52501132	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	5.480000	0.66820	2.488000	0.83962	0.491000	0.48974	CCC		PASS	0.652	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		18	39	18	39	---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53908307	53908307	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:53908307G>C	ENST00000335754.3	-	8	1096	c.996C>G	c.(994-996)tgC>tgG	p.C332W	ACTR8_ENST00000482349.1_Missense_Mutation_p.C221W|ACTR8_ENST00000231909.7_Intron	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	332					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.C332W(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTGTTAACTGGCATTCTCTGT	0.383																																						uc003dhd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(994-996)TGC>TGG		actin-related protein 8							82.0	81.0	81.0					3																	53908307		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53908307G>C		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.996C>G	3.37:g.53908307G>C	ENSP00000336842:p.Cys332Trp					ACTR8_uc003dhb.2_Intron|ACTR8_uc003dhc.2_Missense_Mutation_p.C221W	p.C332W	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	8	1055	-			332					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.996C>G	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377114	0.61735	.	.	ENSG00000113812	ENST00000335754;ENST00000482349	D;D	0.94330	-3.4;-3.4	5.66	2.87	0.33458	.	0.000000	0.85682	D	0.000000	D	0.95645	0.8584	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93548	0.6884	10	0.32370	T	0.25	-5.3953	9.2817	0.37733	0.2904:0.0:0.7096:0.0	.	332	Q9H981	ARP8_HUMAN	W	332;221	ENSP00000336842:C332W;ENSP00000419429:C221W	ENSP00000336842:C332W	C	-	3	2	ACTR8	53883347	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.956000	0.29202	0.719000	0.32188	0.637000	0.83480	TGC		PASS	0.383	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		6	46	6	46	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100594406	100594406	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:100594406G>C	ENST00000284322.5	-	8	893	c.784C>G	c.(784-786)Cac>Gac	p.H262D	ABI3BP_ENST00000471714.1_Missense_Mutation_p.H262D|ABI3BP_ENST00000495063.1_Missense_Mutation_p.H262D	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	262					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.H262D(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAATCCTTGTGAGTAACATTC	0.443																																						uc003dun.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4						c.(784-786)CAC>GAC		ABI gene family, member 3 (NESH) binding protein							100.0	94.0	96.0					3																	100594406		1879	4110	5989	SO:0001583	missense	25890					extracellular space		g.chr3:100594406G>C	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.784C>G	3.37:g.100594406G>C	ENSP00000284322:p.His262Asp					ABI3BP_uc003duo.2_Missense_Mutation_p.H255D|ABI3BP_uc003dup.3_Missense_Mutation_p.H255D	p.H262D	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN			8	869	-			262					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.784C>G	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.936424|3.936424	0.73442|0.73442	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063;ENST00000527258|ENST00000483129	T;T|.	0.22743|.	2.17;1.94|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.167718|.	0.52532|.	D|.	0.000077|.	T|.	0.70107|.	0.3186|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.997;0.991;0.999|.	P;P;D|.	0.80764|.	0.882;0.895;0.994|.	T|.	0.67213|.	-0.5727|.	10|.	0.51188|.	T|.	0.08|.	-12.5245|-12.5245	15.3155|15.3155	0.74074|0.74074	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	255;262;262|.	Q9H717;Q5JPC9;Q7Z7G0|.	.;.;TARSH_HUMAN|.	D|X	262;262;262;181|37	ENSP00000420524:H262D;ENSP00000284322:H262D|.	ENSP00000284322:H262D|.	H|S	-|-	1|2	0|0	ABI3BP|ABI3BP	102077096|102077096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	3.180000|3.180000	0.50895|0.50895	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	CAC|TCA		PASS	0.443	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			16	38	16	38	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130187876	130187876	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:130187876C>T	ENST00000432398.2	+	38	7522	c.7028C>T	c.(7027-7029)cCt>cTt	p.P2343L	COL6A5_ENST00000265379.6_Missense_Mutation_p.P2343L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2343	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P2343L(1)|p.P382L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCTACTCTCCTCCAGGCTAT	0.438																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(7027-7029)CCT>CTT		collagen, type XXIX, alpha 1							76.0	74.0	75.0					3																	130187876		2036	4196	6232	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130187876C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.7028C>T	3.37:g.130187876C>T	ENSP00000390895:p.Pro2343Leu					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.P382L	p.P2343L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			38	7522	+			2343			VWFA 10.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.7028C>T		.	.	.	.	.	.	.	.	.	.	C	14.35	2.508496	0.44660	.	.	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.34	5.34	0.76211	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000066	T	0.41166	0.1147	M	0.83483	2.645	0.41425	D	0.98782	D;D	0.76494	0.999;0.991	D;P	0.74348	0.983;0.835	T	0.36383	-0.9750	10	0.56958	D	0.05	.	15.9557	0.79886	0.0:1.0:0.0:0.0	.	2343;2343	A8TX70;A8TX70-2	CO6A5_HUMAN;.	L	2343;2343;286;178	ENSP00000390895:P2343L;ENSP00000265379:P2343L;ENSP00000362250:P286L;ENSP00000424968:P178L	ENSP00000265379:P2343L	P	+	2	0	COL6A5	131670566	0.999000	0.42202	0.999000	0.59377	0.740000	0.42216	5.257000	0.65473	2.501000	0.84356	0.650000	0.86243	CCT		PASS	0.438	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		7	45	7	45	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739077	138739077	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:138739077C>T	ENST00000329447.5	-	1	691	c.427G>A	c.(427-429)Gca>Aca	p.A143T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	143								p.A143T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGACAGATGCGCAGAATTCC	0.667																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(427-429)GCA>ACA		proline rich 23B							52.0	58.0	56.0					3																	138739077		2202	4300	6502	SO:0001583	missense	389151							g.chr3:138739077C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.427G>A	3.37:g.138739077C>T	ENSP00000328768:p.Ala143Thr						p.A143T	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	692	-			143					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.427G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143753	0.37825	.	.	ENSG00000184814	ENST00000329447	.	.	.	2.37	-1.93	0.07594	.	0.976271	0.08321	N	0.963868	T	0.31979	0.0814	M	0.66939	2.045	0.09310	N	1	P	0.46706	0.883	B	0.41088	0.347	T	0.25606	-1.0127	9	0.54805	T	0.06	.	3.6538	0.08213	0.5533:0.3013:0.0:0.1454	.	143	Q6ZRT6	PR23B_HUMAN	T	143	.	ENSP00000328768:A143T	A	-	1	0	PRR23B	140221767	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.073000	0.14640	-0.443000	0.07180	0.456000	0.33151	GCA		PASS	0.667	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		18	86	18	86	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128271	147128271	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:147128271G>A	ENST00000282928.4	+	1	1101	c.372G>A	c.(370-372)tcG>tcA	p.S124S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	124					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S124S(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TTGCTGCATCGGCCGGGGGCT	0.716																																						uc003ewe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(370-372)TCG>TCA		zinc finger protein of the cerebellum 1							11.0	15.0	14.0					3																	147128271		2087	4192	6279	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128271G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.372G>A	3.37:g.147128271G>A							p.S124S	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1091	+			124					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.372G>A	CCDS3136.1																																																																																				PASS	0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		15	54	15	54	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155206556	155206556	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:155206556A>T	ENST00000340059.7	-	19	2395	c.2396T>A	c.(2395-2397)gTa>gAa	p.V799E	PLCH1_ENST00000460012.1_Missense_Mutation_p.V781E|PLCH1_ENST00000334686.6_Missense_Mutation_p.V781E|PLCH1_ENST00000447496.2_Missense_Mutation_p.V799E|PLCH1_ENST00000414191.1_Missense_Mutation_p.V781E|PLCH1_ENST00000494598.1_Missense_Mutation_p.V799E|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	799	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.V799E(1)|p.V781E(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGCATGTGTACTGTAAATGT	0.428																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2395-2397)GTA>GAA		phospholipase C eta 1 isoform a							127.0	114.0	118.0					3																	155206556		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155206556A>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2396T>A	3.37:g.155206556A>T	ENSP00000345988:p.Val799Glu					PLCH1_uc011boj.1_Missense_Mutation_p.V799E|PLCH1_uc011bol.1_Missense_Mutation_p.V781E	p.V799E	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		19	2673	-			799			C2.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2396T>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829332	0.90955	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.69	5.69	0.88448	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.179110	0.48767	D	0.000170	D	0.85809	0.5783	M	0.87682	2.9	0.58432	D	0.99999	D;D;P	0.69078	0.996;0.997;0.813	D;D;P	0.71656	0.956;0.974;0.741	D	0.88438	0.3040	10	0.87932	D	0	.	15.9642	0.79952	1.0:0.0:0.0:0.0	.	781;799;799	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	E	799;781;799;799;781;781	ENSP00000419100:V799E;ENSP00000417502:V781E;ENSP00000402759:V799E;ENSP00000345988:V799E;ENSP00000335469:V781E;ENSP00000412977:V781E	ENSP00000335469:V781E	V	-	2	0	PLCH1	156689250	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	8.832000	0.92079	2.163000	0.67991	0.533000	0.62120	GTA		PASS	0.428	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		17	59	17	59	---	---	---	---
ARL14	80117	broad.mit.edu	37	3	160395630	160395630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr3:160395630C>T	ENST00000320767.2	+	1	683	c.496C>T	c.(496-498)Cag>Tag	p.Q166*		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	166					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)	p.Q166*(1)		lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GGGGCTGGCCCAGGGGTTCAG	0.502																																						uc003fdq.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(496-498)CAG>TAG		ADP-ribosylation factor-like 14							48.0	51.0	50.0					3																	160395630		2203	4300	6503	SO:0001587	stop_gained	80117				small GTPase mediated signal transduction	intracellular	GTP binding	g.chr3:160395630C>T	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.496C>T	3.37:g.160395630C>T	ENSP00000323847:p.Gln166*						p.Q166*	NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)		1	683	+			166					Q9H655	Nonsense_Mutation	SNP	ENST00000320767.2	37	c.496C>T	CCDS3192.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054821	0.75960	.	.	ENSG00000179674	ENST00000320767	.	.	.	5.75	2.81	0.32909	.	0.202497	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9689	16.1228	0.81373	0.0:0.3936:0.6063:0.0	.	.	.	.	X	166	.	ENSP00000323847:Q166X	Q	+	1	0	ARL14	161878324	1.000000	0.71417	0.268000	0.24571	0.276000	0.26787	5.549000	0.67261	0.730000	0.32425	-0.344000	0.07964	CAG		PASS	0.502	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047		4	113	4	113	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5418612	5418612	+	Silent	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:5418612G>T	ENST00000282908.5	+	6	935	c.513G>T	c.(511-513)gtG>gtT	p.V171V	STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Silent_p.V124V	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.V171V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CGACGGTAGTGAAAGGAGCAG	0.502																																						uc003gih.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(511-513)GTG>GTT		serine/threonine kinase 32B							92.0	77.0	82.0					4																	5418612		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5418612G>T	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.513G>T	4.37:g.5418612G>T						STK32B_uc010ida.1_Silent_p.V124V	p.V171V	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			6	577	+			171			Protein kinase.			Silent	SNP	ENST00000282908.5	37	c.513G>T	CCDS3380.1																																																																																				PASS	0.502	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		10	16	10	16	---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8588916	8588916	+	Silent	SNP	C	C	T	rs571181833	byFrequency	TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:8588916C>T	ENST00000382487.4	+	3	1335	c.918C>T	c.(916-918)gcC>gcT	p.A306A	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	306					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A306A(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AAGTCCTGGCCGGCATGGTGC	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17147	0.0		0.0	False		,,,				2504	0.0					uc003glk.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(2)	6						c.(916-918)GCC>GCT		G protein-coupled receptor 78							41.0	44.0	43.0					4																	8588916		2203	4300	6503	SO:0001819	synonymous_variant	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8588916C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.918C>T	4.37:g.8588916C>T						CPZ_uc003gll.2_Intron	p.A306A	NM_080819	NP_543009	Q96P69	GPR78_HUMAN			3	1337	+			306			Cytoplasmic (Potential).		Q8NGV3	Silent	SNP	ENST00000382487.4	37	c.918C>T	CCDS3403.1																																																																																				PASS	0.652	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			14	32	14	32	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49063890	49063890	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:49063890C>G	ENST00000226432.4	+	16	2266	c.2083C>G	c.(2083-2085)Ccc>Gcc	p.P695A	CWH43_ENST00000513409.1_Missense_Mutation_p.P668A	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	695					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.P695A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATGAATACTCCCAAATACTT	0.254																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2083-2085)CCC>GCC		cell wall biogenesis 43 C-terminal homolog							25.0	25.0	25.0					4																	49063890		2182	4243	6425	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49063890C>G		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.2083C>G	4.37:g.49063890C>G	ENSP00000226432:p.Pro695Ala					CWH43_uc011bzl.1_Missense_Mutation_p.P668A	p.P695A	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			16	2265	+			695					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.2083C>G	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.068955	0.55539	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.74842	-0.3;-0.88	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000018	D	0.86339	0.5909	M	0.85945	2.785	0.42584	D	0.993227	D	0.89917	1.0	D	0.91635	0.999	D	0.87237	0.2264	9	.	.	.	.	13.2029	0.59778	0.0:1.0:0.0:0.0	.	695	Q9H720	PG2IP_HUMAN	A	695;668	ENSP00000226432:P695A;ENSP00000422802:P668A	.	P	+	1	0	CWH43	48758647	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.679000	0.54634	2.838000	0.97847	0.561000	0.74099	CCC		PASS	0.254	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		5	24	5	24	---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57357606	57357606	+	Silent	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:57357606A>G	ENST00000342756.5	+	16	2233	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	SRP72_ENST00000510663.1_Silent_p.K443K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	504					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K504K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GTCTTAGTAAACACTTGCCAT	0.358																																						uc003hbv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1510-1512)AAA>AAG		signal recognition particle 72kDa							133.0	136.0	135.0					4																	57357606		2203	4300	6503	SO:0001819	synonymous_variant	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57357606A>G	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1512A>G	4.37:g.57357606A>G						SRP72_uc010ihe.2_Silent_p.K443K|SRP72_uc003hbw.1_Silent_p.K265K	p.K504K	NM_006947	NP_008878	O76094	SRP72_HUMAN			16	1552	+	Glioma(25;0.08)|all_neural(26;0.101)		504					G5E9Z8|Q7Z3C0	Silent	SNP	ENST00000342756.5	37	c.1512A>G	CCDS3506.1																																																																																				PASS	0.358	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			37	112	37	112	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186501	73186501	+	Silent	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:73186501G>C	ENST00000286657.4	-	7	1068	c.1032C>G	c.(1030-1032)ctC>ctG	p.L344L	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	344	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L344L(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGAGTGGTTGAGATCAGATC	0.443																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1030-1032)CTC>CTG		ADAM metallopeptidase with thrombospondin type 1							207.0	192.0	197.0					4																	73186501		2203	4300	6503	SO:0001819	synonymous_variant	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186501G>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1032C>G	4.37:g.73186501G>C							p.L344L	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1069	-			344			Peptidase M12B.		A1L3U9|Q9BXZ8	Silent	SNP	ENST00000286657.4	37	c.1032C>G	CCDS3553.1																																																																																				PASS	0.443	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			22	65	22	65	---	---	---	---
BMP3	651	broad.mit.edu	37	4	81952680	81952680	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:81952680G>A	ENST00000282701.2	+	1	562	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	81					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)	p.G81E(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCTGGAGGGAGGCTCGCAG	0.672																																						uc003hmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(241-243)GGA>GAA		bone morphogenetic protein 3 preproprotein							14.0	17.0	16.0					4																	81952680		2201	4297	6498	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81952680G>A	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.242G>A	4.37:g.81952680G>A	ENSP00000282701:p.Gly81Glu						p.G81E	NM_001201	NP_001192	P12645	BMP3_HUMAN			1	562	+			81					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.242G>A	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	G	0.725	-0.782132	0.02907	.	.	ENSG00000152785	ENST00000282701	T	0.62788	-0.0	4.62	1.86	0.25419	Transforming growth factor-beta, N-terminal (1);	0.816239	0.10799	N	0.632865	T	0.32645	0.0836	N	0.08118	0	0.09310	N	1	B	0.20164	0.042	B	0.19666	0.026	T	0.29971	-0.9994	10	0.02654	T	1	.	4.6419	0.12552	0.0836:0.1569:0.6075:0.152	.	81	P12645	BMP3_HUMAN	E	81	ENSP00000282701:G81E	ENSP00000282701:G81E	G	+	2	0	BMP3	82171704	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.060000	0.14342	0.259000	0.21709	0.655000	0.94253	GGA		PASS	0.672	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			7	27	7	27	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88035845	88035845	+	Silent	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:88035845C>G	ENST00000307808.6	+	11	2259	c.1839C>G	c.(1837-1839)gcC>gcG	p.A613A	AFF1_ENST00000544085.1_Silent_p.A251A|AFF1_ENST00000395146.4_Silent_p.A620A	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	613					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A620A(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGGCCTCTGCCCGGGCAGGTT	0.587																																						uc003hqj.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1837-1839)GCC>GCG		myeloid/lymphoid or mixed-lineage leukemia							29.0	36.0	33.0					4																	88035845		2199	4297	6496	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035845C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1839C>G	4.37:g.88035845C>G						AFF1_uc011ccz.1_Silent_p.A620A|AFF1_uc003hqk.3_Silent_p.A613A|AFF1_uc011cda.1_Silent_p.A251A	p.A613A	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2246	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	613					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.1839C>G	CCDS3616.1																																																																																				PASS	0.587	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		4	70	4	70	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155237114	155237114	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:155237114C>T	ENST00000357232.4	-	15	3680	c.3681G>A	c.(3679-3681)ttG>ttA	p.L1227L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1227	Cadherin 10. {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.L1227F(1)|p.L1227L(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)		TTTCATAATCCAAAGGACAGG	0.383																																						uc003inw.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(3)|pancreas(1)	4						c.(3679-3681)TTG>TTA		dachsous 2 isoform 1							112.0	109.0	110.0					4																	155237114		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155237114C>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.3681G>A	4.37:g.155237114C>T							p.L1227L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	15	3681	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1227			Cadherin 10.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.3681G>A	CCDS3785.1																																																																																				PASS	0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	17	7	17	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155531250	155531250	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr4:155531250G>T	ENST00000336098.3	-	5	539	c.501C>A	c.(499-501)gaC>gaA	p.D167E	FGG_ENST00000407946.1_Missense_Mutation_p.D167E|FGG_ENST00000404648.3_Missense_Mutation_p.D167E|FGG_ENST00000405164.1_Missense_Mutation_p.D167E	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	167					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.D167E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTTGCACCGTGTCTTTGCAAG	0.368																																						uc003ioj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)GAC>GAA		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						196.0	178.0	184.0					4																	155531250		2203	4300	6503	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155531250G>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.501C>A	4.37:g.155531250G>T	ENSP00000336829:p.Asp167Glu					FGG_uc003iog.2_Missense_Mutation_p.D167E|FGG_uc003ioh.2_Missense_Mutation_p.D167E|FGG_uc010ipx.2_Intron|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Missense_Mutation_p.D167E	p.D167E	NM_021870	NP_068656	P02679	FIBG_HUMAN			5	642	-	all_hematologic(180;0.215)	Renal(120;0.0458)	167					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.501C>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	G	11.28	1.592305	0.28357	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.48	0.657	0.17850	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.000000	0.85682	D	0.000000	D	0.84795	0.5551	M	0.72894	2.215	0.53005	D	0.999963	D;D;D;D	0.89917	0.995;1.0;1.0;0.999	D;D;D;D	0.91635	0.97;0.999;0.999;0.999	T	0.80598	-0.1311	10	0.11794	T	0.64	.	10.1687	0.42897	0.5142:0.0:0.4858:0.0	.	167;167;167;167	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	E	167;167;167;167;64;64	ENSP00000384860:D167E;ENSP00000384101:D167E;ENSP00000336829:D167E;ENSP00000384552:D167E;ENSP00000407562:D64E;ENSP00000377429:D64E	ENSP00000336829:D167E	D	-	3	2	FGG	155750700	1.000000	0.71417	0.967000	0.41034	0.791000	0.44710	0.938000	0.28965	0.078000	0.16900	0.655000	0.94253	GAC		PASS	0.368	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		25	41	25	41	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5237099	5237099	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:5237099C>A	ENST00000274181.7	+	14	2179	c.2041C>A	c.(2041-2043)Ctc>Atc	p.L681I	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	681	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L681I(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CTTATGCAAACTCTACTGTAT	0.333																																						uc003jdl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2041-2043)CTC>ATC		ADAM metallopeptidase with thrombospondin type 1							151.0	135.0	140.0					5																	5237099		1839	4088	5927	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5237099C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2041C>A	5.37:g.5237099C>A	ENSP00000274181:p.Leu681Ile					ADAMTS16_uc003jdk.1_Missense_Mutation_p.L681I|ADAMTS16_uc010itk.1_Intron	p.L681I	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2179	+			681			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2041C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762381	0.89932	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.08370	3.1	5.75	5.75	0.90469	.	0.077681	0.52532	D	0.000077	T	0.49949	0.1587	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	T	0.71174	-0.4670	10	0.87932	D	0	.	18.7091	0.91649	0.0:1.0:0.0:0.0	.	681;681	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	I	681	ENSP00000274181:L681I	ENSP00000274181:L681I	L	+	1	0	ADAMTS16	5290099	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.784000	0.47774	2.711000	0.92665	0.655000	0.94253	CTC		PASS	0.333	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		10	94	10	94	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33588803	33588803	+	Silent	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:33588803C>A	ENST00000504830.1	-	18	3101	c.2766G>T	c.(2764-2766)ccG>ccT	p.P922P	ADAMTS12_ENST00000352040.3_Silent_p.P837P|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	922	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P922P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTCTGTGGGCGGGAGAGCCT	0.632										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2764-2766)CCG>CCT		ADAM metallopeptidase with thrombospondin type 1							127.0	126.0	126.0					5																	33588803		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33588803C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2766G>T	5.37:g.33588803C>A		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.P837P	p.P922P	NM_030955	NP_112217	P58397	ATS12_HUMAN			18	2929	-			922			TSP type-1 3.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2766G>T	CCDS34140.1																																																																																				PASS	0.632	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		18	102	18	102	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937435	33937435	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:33937435G>T	ENST00000330120.3	+	1	945	c.590G>T	c.(589-591)gGc>gTc	p.G197V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	197					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.G197V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGAGGACACGGCCGGGGCGAC	0.662																																						uc003jic.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(589-591)GGC>GTC		relaxin/insulin-like family peptide receptor 3							38.0	40.0	40.0					5																	33937435		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937435G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.590G>T	5.37:g.33937435G>T	ENSP00000328708:p.Gly197Val						p.G197V	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	947	+			197			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.590G>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	G	9.620	1.133520	0.21041	.	.	ENSG00000182631	ENST00000330120	T	0.37235	1.21	5.44	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	1.281880	0.05647	N	0.584519	T	0.24851	0.0603	N	0.25031	0.7	0.21416	N	0.999694	B	0.06786	0.001	B	0.12837	0.008	T	0.28396	-1.0045	10	0.21014	T	0.42	-3.1866	5.3248	0.15901	0.0765:0.1441:0.6298:0.1495	.	197	Q9NSD7	RL3R1_HUMAN	V	197	ENSP00000328708:G197V	ENSP00000328708:G197V	G	+	2	0	RXFP3	33973192	0.009000	0.17119	0.299000	0.25016	0.124000	0.20399	1.510000	0.35790	0.593000	0.29745	0.655000	0.94253	GGC		PASS	0.662	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		12	54	12	54	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	36995735	36995735	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:36995735C>G	ENST00000282516.8	+	11	3632	c.3133C>G	c.(3133-3135)Caa>Gaa	p.Q1045E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.Q1045E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1045					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.Q1045E(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAGTATAGATCAATCAGTGTT	0.313																																						uc003jkl.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(3133-3135)CAA>GAA		delangin isoform A							60.0	63.0	62.0					5																	36995735		2203	4298	6501	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36995735C>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3133C>G	5.37:g.36995735C>G	ENSP00000282516:p.Gln1045Glu					NIPBL_uc003jkk.3_Missense_Mutation_p.Q1045E|NIPBL_uc003jkm.1_Missense_Mutation_p.Q924E	p.Q1045E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		11	3632	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1045					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.3133C>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	9.561	1.118533	0.20877	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92858	-3.12;-3.12	5.39	5.39	0.77823	.	0.062132	0.64402	D	0.000003	D	0.84938	0.5583	N	0.19112	0.55	0.39926	D	0.974225	B;B	0.28801	0.143;0.223	B;B	0.28011	0.023;0.085	T	0.81519	-0.0896	10	0.02654	T	1	-9.9451	19.1448	0.93461	0.0:1.0:0.0:0.0	.	1045;1045	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	1045	ENSP00000282516:Q1045E;ENSP00000406266:Q1045E	ENSP00000282516:Q1045E	Q	+	1	0	NIPBL	37031492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.576000	0.67437	2.540000	0.85666	0.591000	0.81541	CAA		PASS	0.313	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		5	43	5	43	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38350605	38350605	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:38350605G>A	ENST00000354891.3	+	4	640	c.294G>A	c.(292-294)gaG>gaA	p.E98E	EGFLAM_ENST00000322350.5_Silent_p.E98E	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	98	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.E98E(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATTGACAGGAGGAAGTGATTG	0.468																																					Colon(62;485 1295 3347 17454)	uc003jlc.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(3)|skin(3)|ovary(1)	7						c.(292-294)GAG>GAA		EGF-like, fibronectin type III and laminin G							138.0	128.0	132.0					5																	38350605		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38350605G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.294G>A	5.37:g.38350605G>A						EGFLAM_uc003jlb.1_Silent_p.E98E	p.E98E	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			4	618	+	all_lung(31;0.000385)		98			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.294G>A	CCDS56363.1																																																																																				PASS	0.468	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		19	87	19	87	---	---	---	---
PLCXD3	345557	broad.mit.edu	37	5	41382282	41382282	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:41382282T>C	ENST00000377801.3	-	2	532	c.458A>G	c.(457-459)tAt>tGt	p.Y153C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Y153C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	153	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.Y153C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCATGGTGATATTTCTGCAT	0.413																																						uc003jmm.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(457-459)TAT>TGT		phosphatidylinositol-specific phospholipase C, X							114.0	114.0	114.0					5																	41382282		2203	4300	6503	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382282T>C		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.458A>G	5.37:g.41382282T>C	ENSP00000367032:p.Tyr153Cys						p.Y153C	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	560	-			153			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.458A>G	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	T	9.894	1.205004	0.22205	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	T;T	0.62941	-0.01;-0.01	5.81	4.66	0.58398	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.380155	0.30620	N	0.009230	T	0.44787	0.1310	N	0.19112	0.55	0.46279	D	0.998964	B	0.02656	0.0	B	0.01281	0.0	T	0.42085	-0.9472	10	0.52906	T	0.07	-11.3848	9.0285	0.36245	0.0:0.165:0.0:0.835	.	153	Q63HM9	PLCX3_HUMAN	C	153	ENSP00000367032:Y153C;ENSP00000333751:Y153C	ENSP00000333751:Y153C	Y	-	2	0	PLCXD3	41418039	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.442000	0.35046	2.210000	0.71456	0.533000	0.62120	TAT		PASS	0.413	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		12	125	12	125	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262686	45262686	+	Silent	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:45262686C>A	ENST00000303230.4	-	8	2067	c.2010G>T	c.(2008-2010)gcG>gcT	p.A670A		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	670					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.A670A(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						ACAGGCTGGTCGCTGTGTACA	0.582																																						uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2008-2010)GCG>GCT		hyperpolarization activated cyclic							131.0	129.0	130.0					5																	45262686		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262686C>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2010G>T	5.37:g.45262686C>A							p.A670A	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2035	-			670			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2010G>T	CCDS3952.1																																																																																				PASS	0.582	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		19	80	19	80	---	---	---	---
SLCO4C1	353189	broad.mit.edu	37	5	101583092	101583092	+	Nonsense_Mutation	SNP	C	C	A	rs369445226		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:101583092C>A	ENST00000310954.6	-	10	1961	c.1675G>T	c.(1675-1677)Gaa>Taa	p.E559*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.E559*(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)		CCAAAAGTTTCTGCAGTGGAT	0.294																																						uc003knm.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(1675-1677)GAA>TAA		solute carrier organic anion transporter family,							101.0	111.0	108.0					5																	101583092		2203	4300	6503	SO:0001587	stop_gained	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.chr5:101583092C>A	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.1675G>T	5.37:g.101583092C>A	ENSP00000309741:p.Glu559*						p.E559*	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	1962	-		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)	559			Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000310954.6	37	c.1675G>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	38	7.096772	0.98059	.	.	ENSG00000173930	ENST00000310954	.	.	.	6.17	4.39	0.52855	.	0.749065	0.12583	N	0.456273	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	11.5889	0.50935	0.1312:0.8046:0.0:0.0642	.	.	.	.	X	559	.	ENSP00000309741:E559X	E	-	1	0	SLCO4C1	101610991	0.112000	0.22096	0.029000	0.17559	0.027000	0.11550	1.912000	0.39946	0.927000	0.37143	-0.126000	0.14955	GAA		PASS	0.294	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		22	41	22	41	---	---	---	---
JADE2	23338	broad.mit.edu	37	5	133901824	133901824	+	Missense_Mutation	SNP	G	G	A	rs368664750		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:133901824G>A	ENST00000402835.1	+	9	1243	c.988G>A	c.(988-990)Gtc>Atc	p.V330I	PHF15_ENST00000361895.2_Missense_Mutation_p.V330I|PHF15_ENST00000395003.1_Missense_Mutation_p.V330I|PHF15_ENST00000282605.4_Missense_Mutation_p.V330I														p.V330I(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCTTCCTGCGTCACAGCGTT	0.572																																						uc003kzo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)GTC>ATC		PHD finger protein 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	107.0	96.0	100.0		988	-6.1	0.0	5		100	0,8600		0,0,4300	no	missense	PHF15	NM_015288.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	330/791	133901824	1,13005	2203	4300	6503	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133901824G>A																												ENST00000402835.1:c.988G>A	5.37:g.133901824G>A	ENSP00000384671:p.Val330Ile					PHF15_uc011cxt.1_Missense_Mutation_p.V330I|PHF15_uc003kzk.2_Missense_Mutation_p.V346I|PHF15_uc003kzl.2_Missense_Mutation_p.V330I|PHF15_uc003kzm.2_Missense_Mutation_p.V330I|PHF15_uc003kzn.2_Missense_Mutation_p.V330I|PHF15_uc003kzp.2_Missense_Mutation_p.V38I	p.V330I	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		9	1167	+			330						Missense_Mutation	SNP	ENST00000402835.1	37	c.988G>A		.	.	.	.	.	.	.	.	.	.	G	0.018	-1.485903	0.01018	2.27E-4	0.0	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	5.65	-6.1	0.02138	Zinc finger, PHD-type (1);	0.488083	0.23738	N	0.045053	T	0.06554	0.0168	N	0.25485	0.75	0.09310	N	1	B;B;B;B;B;B	0.14805	0.0;0.0;0.011;0.0;0.001;0.001	B;B;B;B;B;B	0.11329	0.002;0.002;0.006;0.002;0.002;0.001	T	0.24621	-1.0155	10	0.25106	T	0.35	.	8.1054	0.30883	0.418:0.2575:0.3245:0.0	.	330;330;330;330;330;346	B4DFY8;Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	.;JADE2_HUMAN;.;.;.;.	I	330;346;330;330;330;330;330	ENSP00000282605:V330I;ENSP00000354425:V330I;ENSP00000384671:V330I;ENSP00000378451:V330I	ENSP00000282605:V330I	V	+	1	0	PHF15	133929723	0.356000	0.24930	0.007000	0.13788	0.030000	0.12068	0.295000	0.19065	-1.164000	0.02790	-0.304000	0.09214	GTC		PASS	0.572	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1			13	113	13	113	---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140515709	140515709	+	Silent	SNP	C	C	A	rs145844360	byFrequency	TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:140515709C>A	ENST00000231134.5	+	1	910	c.693C>A	c.(691-693)gtC>gtA	p.V231V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	231	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V231V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGCATTGTCGTCTTGGATA	0.547																																						uc003liq.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(691-693)GTC>GTA		protocadherin beta 5 precursor							126.0	141.0	136.0					5																	140515709		2203	4300	6503	SO:0001819	synonymous_variant	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515709C>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.693C>A	5.37:g.140515709C>A							p.V231V	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	910	+			231			Cadherin 2.|Extracellular (Potential).		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.693C>A	CCDS4247.1																																																																																				PASS	0.547	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		105	180	105	180	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140574340	140574340	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:140574340G>T	ENST00000239446.4	+	1	2399	c.2215G>T	c.(2215-2217)Gtg>Ttg	p.V739L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	739					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V739L(1)		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)			AGGGCATCTGGTGGACGTGAG	0.647																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2215-2217)GTG>TTG		protocadherin beta 10 precursor							72.0	81.0	78.0					5																	140574340		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574340G>T	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	ENST00000239446.4:c.2215G>T	5.37:g.140574340G>T	ENSP00000239446:p.Val739Leu						p.V739L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2389	+			739			Cytoplasmic (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2215G>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	12.21	1.869925	0.33069	.	.	ENSG00000120324	ENST00000239446	T	0.50277	0.75	3.28	-3.29	0.05017	.	.	.	.	.	T	0.48187	0.1486	M	0.89478	3.035	0.09310	N	0.999997	B	0.14438	0.01	B	0.18263	0.021	T	0.53961	-0.8364	9	0.59425	D	0.04	.	5.1155	0.14833	0.1046:0.5531:0.2022:0.1401	.	739	Q9UN67	PCDBA_HUMAN	L	739	ENSP00000239446:V739L	ENSP00000239446:V739L	V	+	1	0	PCDHB10	140554524	0.000000	0.05858	0.600000	0.28864	0.236000	0.25371	-0.488000	0.06497	-0.442000	0.07190	0.298000	0.19748	GTG		PASS	0.647	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		18	173	18	173	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140793265	140793265	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:140793265C>A	ENST00000398610.2	+	1	523	c.523C>A	c.(523-525)Cag>Aag	p.Q175K	PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	175	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.Q175K(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAGCTATCAGCTCAGCCC	0.527																																						uc003lkl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(523-525)CAG>AAG		protocadherin gamma subfamily A, 10 isoform 1							34.0	35.0	35.0					5																	140793265		1944	4149	6093	SO:0001583	missense	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140793265C>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.523C>A	5.37:g.140793265C>A	ENSP00000381611:p.Gln175Lys					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_uc011day.1_Missense_Mutation_p.Q175K	p.Q175K	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	523	+			175			Extracellular (Potential).|Cadherin 2.		Q9Y5E0	Missense_Mutation	SNP	ENST00000398610.2	37	c.523C>A	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	c	9.389	1.074917	0.20227	.	.	ENSG00000253846	ENST00000398610	T	0.50277	0.75	5.49	5.49	0.81192	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.35335	0.0928	N	0.25426	0.745	0.21325	N	0.999722	B;B	0.16802	0.003;0.019	B;B	0.20577	0.03;0.029	T	0.12630	-1.0540	9	0.27082	T	0.32	.	11.0116	0.47665	0.1343:0.7188:0.1469:0.0	.	175;175	Q9Y5H3-2;Q9Y5H3	.;PCDGA_HUMAN	K	175	ENSP00000381611:Q175K	ENSP00000381611:Q175K	Q	+	1	0	PCDHGA10	140773449	0.000000	0.05858	1.000000	0.80357	0.790000	0.44656	0.015000	0.13355	2.590000	0.87494	0.557000	0.71058	CAG		PASS	0.527	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		16	29	16	29	---	---	---	---
RARS	5917	broad.mit.edu	37	5	167933834	167933834	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:167933834C>A	ENST00000231572.3	+	11	1398	c.1344C>A	c.(1342-1344)gaC>gaA	p.D448E	RARS_ENST00000538719.1_Missense_Mutation_p.D242E	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	448					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.D448E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TAGGGGAAGACAAGTAAGTCT	0.393																																						uc003lzx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1342-1344)GAC>GAA		arginyl-tRNA synthetase							155.0	135.0	142.0					5																	167933834		2203	4300	6503	SO:0001583	missense	5917				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding	g.chr5:167933834C>A	BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1344C>A	5.37:g.167933834C>A	ENSP00000231572:p.Asp448Glu					RARS_uc011deo.1_Missense_Mutation_p.D242E	p.D448E	NM_002887	NP_002878	P54136	SYRC_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)	11	1385	+	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	448					B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	ENST00000231572.3	37	c.1344C>A	CCDS4367.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186291	0.94885	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.71461	0.02;-0.57	5.45	5.45	0.79879	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.84219	2.685	0.80722	D	1	D	0.56287	0.975	D	0.67382	0.951	D	0.87062	0.2154	10	0.87932	D	0	-22.6142	19.6439	0.95769	0.0:1.0:0.0:0.0	.	448	P54136	SYRC_HUMAN	E	448;242	ENSP00000231572:D448E;ENSP00000439108:D242E	ENSP00000231572:D448E	D	+	3	2	RARS	167866412	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.648000	0.67930	2.716000	0.92895	0.650000	0.86243	GAC		PASS	0.393	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252794.2	NM_002887		15	49	15	49	---	---	---	---
CDHR2	54825	broad.mit.edu	37	5	176018407	176018407	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:176018407C>A	ENST00000510636.1	+	30	3930	c.3656C>A	c.(3655-3657)gCc>gAc	p.A1219D	CDHR2_ENST00000261944.5_Missense_Mutation_p.A1219D|CDHR2_ENST00000506348.1_Missense_Mutation_p.A1219D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1219					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1219D(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCTCCAGAGCCAACCCCATG	0.592																																						uc003mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3655-3657)GCC>GAC		protocadherin LKC precursor							83.0	74.0	77.0					5																	176018407		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176018407C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3656C>A	5.37:g.176018407C>A	ENSP00000424565:p.Ala1219Asp					CDHR2_uc003men.1_Missense_Mutation_p.A1219D	p.A1219D	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			30	3722	+			1219			Cytoplasmic (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3656C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	17.78	3.472400	0.63737	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.63255	-0.03;-0.03;-0.03	3.38	3.38	0.38709	.	.	.	.	.	T	0.71160	0.3307	M	0.76002	2.32	0.53005	D	0.999964	D	0.56521	0.976	P	0.53760	0.734	T	0.76887	-0.2793	9	0.87932	D	0	-30.3823	13.1979	0.59749	0.0:1.0:0.0:0.0	.	1219	Q9BYE9	CDHR2_HUMAN	D	1219	ENSP00000424565:A1219D;ENSP00000261944:A1219D;ENSP00000421078:A1219D	ENSP00000261944:A1219D	A	+	2	0	CDHR2	175951013	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.171000	0.64996	2.248000	0.74166	0.459000	0.35465	GCC		PASS	0.592	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		7	49	7	49	---	---	---	---
GRK6	2870	broad.mit.edu	37	5	176859271	176859271	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr5:176859271C>T	ENST00000355472.5	+	4	467	c.299C>T	c.(298-300)gCa>gTa	p.A100V	GRK6_ENST00000507633.1_Missense_Mutation_p.A100V|GRK6_ENST00000355958.5_Missense_Mutation_p.A100V|GRK6_ENST00000393576.3_Missense_Mutation_p.A100V|GRK6_ENST00000528793.1_Missense_Mutation_p.A100V	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	100	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)	p.A100V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCGGAAGGCATGTGGGCGG	0.602																																						uc011dfz.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|stomach(1)|breast(1)	3						c.(298-300)GCA>GTA		G protein-coupled receptor kinase 6 isoform B							81.0	83.0	82.0					5																	176859271		2203	4300	6503	SO:0001583	missense	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176859271C>T		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.299C>T	5.37:g.176859271C>T	ENSP00000347655:p.Ala100Val					GRK6_uc003mgp.2_Missense_Mutation_p.A100V|GRK6_uc003mgq.2_Missense_Mutation_p.A100V|GRK6_uc003mgs.1_Missense_Mutation_p.A70V	p.A100V	NM_002082	NP_002073	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	459	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	100			N-terminal.|RGS.		O60541|Q13652	Missense_Mutation	SNP	ENST00000355472.5	37	c.299C>T	CCDS34303.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736528	0.49045	.	.	ENSG00000198055	ENST00000506296;ENST00000511244;ENST00000355472;ENST00000507633;ENST00000393576;ENST00000355958;ENST00000528793	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.37	3.39	0.38822	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.050076	0.85682	D	0.000000	T	0.01558	0.0050	N	0.19112	0.55	0.38575	D	0.950038	B;B;B;B	0.26445	0.075;0.149;0.086;0.02	B;B;B;B	0.22880	0.042;0.028;0.025;0.007	T	0.57481	-0.7804	9	.	.	.	-11.4844	6.964	0.24613	0.5251:0.3861:0.0:0.0888	.	100;70;100;100	P43250;B3KPS5;P43250-2;D6RHX8	GRK6_HUMAN;.;.;.	V	68;68;100;100;100;100;100	ENSP00000421055:A68V;ENSP00000425391:A68V;ENSP00000347655:A100V;ENSP00000427581:A100V;ENSP00000377204:A100V;ENSP00000348230:A100V;ENSP00000433511:A100V	.	A	+	2	0	GRK6	176791877	0.987000	0.35691	0.893000	0.35052	0.698000	0.40448	2.736000	0.47385	1.253000	0.44018	0.561000	0.74099	GCA		PASS	0.602	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	NM_002082		6	89	6	89	---	---	---	---
MRS2	57380	broad.mit.edu	37	6	24418421	24418421	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:24418421C>G	ENST00000378386.3	+	8	1039	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	MRS2_ENST00000443868.2_Missense_Mutation_p.L319V|MRS2_ENST00000378353.1_Missense_Mutation_p.L316V|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000543597.1_Missense_Mutation_p.L25V|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.L266V	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	316						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L316V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GCTTAGGGTGCTGATTGATGA	0.358																																						uc003neb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(946-948)CTG>GTG		MRS2-like, magnesium homeostasis factor							128.0	113.0	118.0					6																	24418421		2203	4300	6503	SO:0001583	missense	57380				ion transport	integral to membrane|mitochondrial inner membrane		g.chr6:24418421C>G	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.946C>G	6.37:g.24418421C>G	ENSP00000367637:p.Leu316Val					MRS2_uc003nea.2_Missense_Mutation_p.L316V|MRS2_uc011djl.1_Missense_Mutation_p.L319V|MRS2_uc011djm.1_RNA|MRS2_uc011djn.1_Missense_Mutation_p.L266V|MRS2_uc003nec.2_Missense_Mutation_p.L193V	p.L316V	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN			8	1068	+			316			Mitochondrial matrix (Potential).		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	ENST00000378386.3	37	c.946C>G	CCDS4552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.64|19.64	3.865057|3.865057	0.71949|0.71949	.|.	.|.	ENSG00000124532|ENSG00000124532	ENST00000446191|ENST00000543597;ENST00000535061;ENST00000378386;ENST00000378353;ENST00000443868	.|T;T;T;T;T	.|0.44881	.|0.91;1.52;1.48;0.93;1.47	5.84|5.84	4.8|4.8	0.61643|0.61643	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.49287|0.49287	0.1548|0.1548	L|L	0.60455|0.60455	1.87|1.87	0.47341|0.47341	D|D	0.999399|0.999399	.|D;D;D;D	.|0.76494	.|0.998;0.999;0.963;0.979	.|D;D;P;P	.|0.73708	.|0.971;0.981;0.718;0.798	T|T	0.33979|0.33979	-0.9847|-0.9847	5|10	.|0.36615	.|T	.|0.2	-16.0393|-16.0393	13.092|13.092	0.59171|0.59171	0.0:0.862:0.0:0.138|0.0:0.862:0.0:0.138	.|.	.|266;319;316;316	.|F5GWH3;B4DQL2;Q9HD23;Q9HD23-2	.|.;.;MRS2_HUMAN;.	W|V	134|25;266;316;316;319	.|ENSP00000438118:L25V;ENSP00000441839:L266V;ENSP00000367637:L316V;ENSP00000367604:L316V;ENSP00000399585:L319V	.|ENSP00000367604:L316V	C|L	+|+	3|1	2|2	MRS2|MRS2	24526400|24526400	0.043000|0.043000	0.20138|0.20138	0.962000|0.962000	0.40283|0.40283	0.947000|0.947000	0.59692|0.59692	0.443000|0.443000	0.21644|0.21644	2.768000|2.768000	0.95171|0.95171	0.579000|0.579000	0.79373|0.79373	TGC|CTG		PASS	0.358	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1			3	94	3	94	---	---	---	---
TMEM63B	55362	broad.mit.edu	37	6	44116675	44116675	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:44116675A>T	ENST00000259746.9	+	15	1589	c.1406A>T	c.(1405-1407)tAc>tTc	p.Y469F	TMEM63B_ENST00000323267.6_Missense_Mutation_p.Y469F			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	469					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)	p.Y469F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTGTGGAGTACCTCAACGTG	0.557																																						uc003owr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(1405-1407)TAC>TTC		transmembrane protein 63B							260.0	183.0	209.0					6																	44116675		2203	4300	6503	SO:0001583	missense	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116675A>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1406A>T	6.37:g.44116675A>T	ENSP00000259746:p.Tyr469Phe					TMEM63B_uc003owq.1_Missense_Mutation_p.Y469F|TMEM63B_uc003ows.2_Missense_Mutation_p.Y372F|TMEM63B_uc010jyz.2_RNA	p.Y469F	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		15	1470	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		469					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	c.1406A>T	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.529|8.529	0.870538|0.870538	0.17322|0.17322	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000371893|ENST00000259746;ENST00000323267	.|T;T	.|0.29397	.|1.57;1.57	4.48|4.48	3.24|3.24	0.37175|0.37175	.|Domain of unknown function DUF221 (1);	.|0.065002	.|0.64402	.|D	.|0.000005	T|T	0.15912|0.15912	0.0383|0.0383	M|M	0.72118|0.72118	2.19|2.19	0.31916|0.31916	N|N	0.614071|0.614071	.|B;B	.|0.21309	.|0.007;0.054	.|B;B	.|0.23852	.|0.049;0.027	T|T	0.09207|0.09207	-1.0685|-1.0685	5|10	.|0.23302	.|T	.|0.38	.|.	10.4684|10.4684	0.44622|0.44622	0.844:0.0:0.0:0.156|0.844:0.0:0.0:0.156	.|.	.|469;469	.|Q5T3F8;Q5T3F8-2	.|TM63B_HUMAN;.	S|F	398|469	.|ENSP00000259746:Y469F;ENSP00000327154:Y469F	.|ENSP00000259746:Y469F	T|Y	+|+	1|2	0|0	TMEM63B|TMEM63B	44224653|44224653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	4.840000|4.840000	0.62817|0.62817	1.880000|1.880000	0.54463|0.54463	0.482000|0.482000	0.46254|0.46254	ACC|TAC		PASS	0.557	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		35	92	35	92	---	---	---	---
NT5E	4907	broad.mit.edu	37	6	86181079	86181079	+	Silent	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:86181079C>A	ENST00000257770.3	+	3	736	c.687C>A	c.(685-687)atC>atA	p.I229I	NT5E_ENST00000369651.3_Silent_p.I229I|NT5E_ENST00000369646.3_Silent_p.I229I	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	229					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.I229I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	ATAAACTCATCGCTCAGAAAG	0.408																																					Melanoma(140;797 1765 2035 2752 18208)	uc003pko.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(685-687)ATC>ATA		5' nucleotidase, ecto precursor	Pentoxifylline(DB00806)						110.0	109.0	109.0					6																	86181079		2203	4300	6503	SO:0001819	synonymous_variant	4907				DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding	g.chr6:86181079C>A	X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.687C>A	6.37:g.86181079C>A						NT5E_uc003pkn.2_Silent_p.I229I|NT5E_uc010kbr.2_Silent_p.I229I	p.I229I	NM_002526	NP_002517	P21589	5NTD_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0417)	3	1243	+		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)	229					B3KQI8|O75520|Q5W116	Silent	SNP	ENST00000257770.3	37	c.687C>A	CCDS5002.1																																																																																				PASS	0.408	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			3	84	3	84	---	---	---	---
AIM1	202	broad.mit.edu	37	6	106968897	106968897	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:106968897A>G	ENST00000369066.3	+	2	3077	c.2590A>G	c.(2590-2592)Act>Gct	p.T864A		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.T864A(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGCTTTCAGTACTTCTCAGAA	0.453																																						uc003prh.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(2590-2592)ACT>GCT		absent in melanoma 1							70.0	73.0	72.0					6																	106968897		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968897A>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2590A>G	6.37:g.106968897A>G	ENSP00000358062:p.Thr864Ala						p.T864A	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	3077	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	864					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2590A>G	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.218852	0.39201	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.72725	-0.68	5.46	2.99	0.34606	.	1.281690	0.04938	N	0.458134	T	0.46870	0.1415	L	0.47716	1.5	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.52049	-0.8627	10	0.54805	T	0.06	.	5.6217	0.17461	0.756:0.0:0.0815:0.1625	.	864	Q9Y4K1	AIM1_HUMAN	A	1272;864	ENSP00000358062:T864A	ENSP00000285105:T1272A	T	+	1	0	AIM1	107075590	1.000000	0.71417	0.943000	0.38184	0.984000	0.73092	1.745000	0.38278	0.451000	0.26802	0.533000	0.62120	ACT		PASS	0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			28	73	28	73	---	---	---	---
SMPDL3A	10924	broad.mit.edu	37	6	123116872	123116872	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:123116872A>G	ENST00000368440.4	+	2	340	c.163A>G	c.(163-165)Aca>Gca	p.T55A	SMPDL3A_ENST00000487215.1_3'UTR|SMPDL3A_ENST00000539041.1_Intron	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	55					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.T55A(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTACCACATCACAGATGACCA	0.403																																						uc003pzg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)ACA>GCA		acid sphingomyelinase-like phosphodiesterase 3A							147.0	130.0	136.0					6																	123116872		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123116872A>G	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.163A>G	6.37:g.123116872A>G	ENSP00000357425:p.Thr55Ala					SMPDL3A_uc003pzh.2_Intron	p.T55A	NM_006714	NP_006705	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	2	684	+			55					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.163A>G	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894994	0.33442	.	.	ENSG00000172594	ENST00000368440	D	0.94793	-3.52	5.27	5.27	0.74061	Metallophosphoesterase domain (1);	0.157767	0.56097	D	0.000034	D	0.87993	0.6318	L	0.42245	1.32	0.80722	D	1	P	0.40000	0.698	B	0.38683	0.279	D	0.88852	0.3320	10	0.46703	T	0.11	-11.6869	11.2665	0.49114	0.8633:0.0:0.0:0.1367	.	55	Q92484	ASM3A_HUMAN	A	55	ENSP00000357425:T55A	ENSP00000357425:T55A	T	+	1	0	SMPDL3A	123158571	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.057000	0.49931	2.112000	0.64535	0.528000	0.53228	ACA		PASS	0.403	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		24	57	24	57	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762297	130762297	+	Missense_Mutation	SNP	C	C	T	rs201003025		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:130762297C>T	ENST00000296978.3	+	3	1601	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P244S|TMEM200A_ENST00000392429.1_Missense_Mutation_p.P244S	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	244						integral component of membrane (GO:0016021)		p.P244S(2)|p.P244T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCATCTTATGCCCCCTTTGCT	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		21137	0.001		0.0	False		,,,				2504	0.0					uc003qca.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(730-732)CCC>TCC		transmembrane protein 200A							73.0	70.0	71.0					6																	130762297		2203	4299	6502	SO:0001583	missense	114801					integral to membrane		g.chr6:130762297C>T	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.730C>T	6.37:g.130762297C>T	ENSP00000296978:p.Pro244Ser					TMEM200A_uc010kfh.2_Missense_Mutation_p.P244S|TMEM200A_uc010kfi.2_Missense_Mutation_p.P244S|TMEM200A_uc003qcb.2_Missense_Mutation_p.P244S	p.P244S	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1601	+			244			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.730C>T	CCDS5140.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.47	3.132516	0.56828	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.108415	0.64402	D	0.000004	T	0.67031	0.2850	L	0.47716	1.5	0.80722	D	1	D	0.71674	0.998	P	0.59115	0.852	T	0.65520	-0.6148	9	0.51188	T	0.08	-11.1798	20.3368	0.98748	0.0:1.0:0.0:0.0	.	244	Q86VY9	T200A_HUMAN	S	244	.	ENSP00000296978:P244S	P	+	1	0	TMEM200A	130803990	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.095000	0.50235	2.805000	0.96524	0.655000	0.94253	CCC		PASS	0.483	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		4	106	4	106	---	---	---	---
MED23	9439	broad.mit.edu	37	6	131946127	131946127	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:131946127C>T	ENST00000368068.3	-	4	341	c.162G>A	c.(160-162)gaG>gaA	p.E54E	MED23_ENST00000368060.3_Silent_p.E54E|MED23_ENST00000539158.1_Silent_p.E54E|MED23_ENST00000540546.1_Silent_p.E54E|MED23_ENST00000354577.4_Silent_p.E54E|MED23_ENST00000368058.1_Silent_p.E54E|MED23_ENST00000368053.4_Silent_p.E54E|MED23_ENST00000403834.3_Silent_p.E54E	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	54					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.E54E(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTTCATGAGACTCCTGGAAAA	0.338																																						uc003qcs.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(160-162)GAG>GAA		mediator complex subunit 23 isoform a							84.0	85.0	84.0					6																	131946127		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131946127C>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.162G>A	6.37:g.131946127C>T						MED23_uc003qcq.2_Silent_p.E54E|MED23_uc003qct.1_Silent_p.E54E|MED23_uc011ecb.1_RNA	p.E54E	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	4	336	-	Breast(56;0.0753)		54					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.162G>A	CCDS5147.1																																																																																				PASS	0.338	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			14	57	14	57	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152576797	152576797	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:152576797C>T	ENST00000367255.5	-	103	19790	c.19189G>A	c.(19189-19191)Gtt>Att	p.V6397I	SYNE1_ENST00000341594.5_Missense_Mutation_p.V6009I|SYNE1_ENST00000423061.1_Missense_Mutation_p.V6326I|SYNE1_ENST00000356820.4_Missense_Mutation_p.V921I|SYNE1_ENST00000265368.4_Missense_Mutation_p.V6397I|SYNE1_ENST00000448038.1_Missense_Mutation_p.V6326I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6397					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V6397I(2)|p.V6326I(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTTCTTCAACGTCATCCAAC	0.458										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(19189-19191)GTT>ATT		spectrin repeat containing, nuclear envelope 1							163.0	136.0	145.0					6																	152576797		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152576797C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19189G>A	6.37:g.152576797C>T	ENSP00000356224:p.Val6397Ile	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.V921I|SYNE1_uc003qos.3_Missense_Mutation_p.V921I|SYNE1_uc003qot.3_Missense_Mutation_p.V6326I|SYNE1_uc003qou.3_Missense_Mutation_p.V6397I	p.V6397I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	103	19791	-		Ovarian(120;0.0955)	6397			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19189G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862240	0.91511	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.58506	0.42;0.4;0.33;0.4;0.54;2.35	5.17	5.17	0.71159	.	0.000000	0.51477	D	0.000088	T	0.66416	0.2787	L	0.55103	1.725	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69479	0.921;0.921;0.964	T	0.64715	-0.6342	10	0.44086	T	0.13	.	19.0414	0.93000	0.0:1.0:0.0:0.0	.	6397;6397;6326	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	6397;6326;6397;6326;6009;921	ENSP00000356224:V6397I;ENSP00000396024:V6326I;ENSP00000265368:V6397I;ENSP00000390975:V6326I;ENSP00000341887:V6009I;ENSP00000349276:V921I	ENSP00000265368:V6397I	V	-	1	0	SYNE1	152618490	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	5.900000	0.69853	2.579000	0.87056	0.655000	0.94253	GTT		PASS	0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	93	17	93	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653483	159653483	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr6:159653483T>C	ENST00000297267.9	+	11	2139	c.1939T>C	c.(1939-1941)Tca>Cca	p.S647P	FNDC1_ENST00000340366.6_Missense_Mutation_p.S584P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	647					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S647P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTTGGTGGACTCAGACGAAGA	0.692																																						uc010kjv.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(1939-1941)TCA>CCA		fibronectin type III domain containing 1							35.0	40.0	38.0					6																	159653483		2066	4175	6241	SO:0001583	missense	84624					extracellular region		g.chr6:159653483T>C	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1939T>C	6.37:g.159653483T>C	ENSP00000297267:p.Ser647Pro					FNDC1_uc010kjw.1_Missense_Mutation_p.S532P	p.S647P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2139	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	647					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1939T>C	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.95|11.95	1.793126|1.793126	0.31685|0.31685	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	.|T;T	.|0.08546	.|3.08;3.91	5.21|5.21	-2.35|-2.35	0.06684|0.06684	.|.	.|2.820990	.|0.00904	.|N	.|0.002389	T|T	0.00998|0.00998	0.0033|0.0033	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.44345|0.44345	-0.9334|-0.9334	5|10	.|0.31617	.|T	.|0.26	8.3323|8.3323	0.713|0.713	0.00927|0.00927	0.2126:0.1612:0.3255:0.3006|0.2126:0.1612:0.3255:0.3006	.|.	.|584;647	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	P|P	542|647;584	.|ENSP00000297267:S647P;ENSP00000342460:S584P	.|ENSP00000297267:S647P	L|S	+|+	2|1	0|0	FNDC1|FNDC1	159573473|159573473	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.765000|-0.765000	0.04730|0.04730	-0.385000|-0.385000	0.07833|0.07833	-1.100000|-1.100000	0.02121|0.02121	CTC|TCA		PASS	0.692	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		23	61	23	61	---	---	---	---
CYTH3	9265	broad.mit.edu	37	7	6213320	6213320	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:6213320T>C	ENST00000350796.3	-	6	549	c.413A>G	c.(412-414)cAt>cGt	p.H138R	CYTH3_ENST00000396741.2_5'Flank|Y_RNA_ENST00000458975.1_RNA|CYTH3_ENST00000488964.1_5'Flank	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	138	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.H138R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGCAAACTCATGGAGTTCAAC	0.398																																						uc003spt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)CAT>CGT		cytohesin 3							115.0	108.0	110.0					7																	6213320		2203	4300	6503	SO:0001583	missense	9265				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr7:6213320T>C	AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.413A>G	7.37:g.6213320T>C	ENSP00000297044:p.His138Arg					CYTH3_uc011jws.1_5'Flank	p.H138R	NM_004227	NP_004218	O43739	CYH3_HUMAN			6	517	-			138			SEC7.		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	c.413A>G	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633559	0.87660	.	.	ENSG00000008256	ENST00000350796	T	0.55413	0.52	5.71	5.71	0.89125	.	0.085715	0.85682	D	0.000000	T	0.77370	0.4120	H	0.95780	3.72	0.80722	D	1	D	0.69078	0.997	P	0.57720	0.826	T	0.83180	-0.0089	10	0.42905	T	0.14	.	15.9795	0.80097	0.0:0.0:0.0:1.0	.	138	O43739-2	.	R	138	ENSP00000297044:H138R	ENSP00000297044:H138R	H	-	2	0	CYTH3	6179845	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	7.888000	0.87302	2.169000	0.68431	0.533000	0.62120	CAT		PASS	0.398	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2	NM_004227		35	79	35	79	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34009998	34009998	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:34009998G>A	ENST00000297161.2	+	6	834	c.460G>A	c.(460-462)Gag>Aag	p.E154K	BMPER_ENST00000426693.1_Missense_Mutation_p.E154K	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	154	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.E154K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAACCCTTTGGAGCATCTGGG	0.498																																						uc011kap.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(460-462)GAG>AAG		BMP-binding endothelial regulator precursor							213.0	184.0	194.0					7																	34009998		2203	4300	6503	SO:0001583	missense	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34009998G>A		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.460G>A	7.37:g.34009998G>A	ENSP00000297161:p.Glu154Lys						p.E154K	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			5	574	+			154			VWFC 2.		A8K1P8|Q8TF36	Missense_Mutation	SNP	ENST00000297161.2	37	c.460G>A	CCDS5442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.50|15.50	2.850701|2.850701	0.51270|0.51270	.|.	.|.	ENSG00000164619|ENSG00000164619	ENST00000297161;ENST00000426693|ENST00000436222	T;T|.	0.63913|.	-0.07;-0.07|.	5.9|5.9	2.6|2.6	0.31112|0.31112	von Willebrand factor, type C (1);|.	0.584032|.	0.18918|.	N|.	0.127554|.	T|.	0.09024|.	0.0223|.	N|N	0.00554|0.00554	-1.385|-1.385	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|.	0.27020|.	-1.0086|.	10|.	0.14656|0.33141	T|T	0.56|0.24	.|.	10.2193|10.2193	0.43188|0.43188	0.8864:0.0:0.1136:0.0|0.8864:0.0:0.1136:0.0	.|.	154|.	Q8N8U9|.	BMPER_HUMAN|.	K|X	154|120	ENSP00000297161:E154K;ENSP00000393950:E154K|.	ENSP00000297161:E154K|ENSP00000399843:W120X	E|W	+|+	1|3	0|0	BMPER|BMPER	33976523|33976523	0.743000|0.743000	0.28239|0.28239	0.018000|0.018000	0.16275|0.16275	0.420000|0.420000	0.31355|0.31355	1.594000|1.594000	0.36697|0.36697	0.253000|0.253000	0.21552|0.21552	-0.140000|-0.140000	0.14226|0.14226	GAG|TGG		PASS	0.498	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		58	189	58	189	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38505102	38505102	+	Missense_Mutation	SNP	G	G	C	rs146457438	byFrequency	TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:38505102G>C	ENST00000356264.2	-	9	929	c.714C>G	c.(712-714)caC>caG	p.H238Q	AMPH_ENST00000325590.5_Missense_Mutation_p.H238Q|AMPH_ENST00000428293.2_Missense_Mutation_p.H238Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	238	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.H238H(1)|p.H238Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CCTTGTCGGCGTGCTGGTCAC	0.502																																						uc003tgu.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(712-714)CAC>CAG		amphiphysin isoform 1							75.0	59.0	64.0					7																	38505102		2203	4298	6501	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38505102G>C		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.714C>G	7.37:g.38505102G>C	ENSP00000348602:p.His238Gln					AMPH_uc003tgv.2_Missense_Mutation_p.H238Q|AMPH_uc003tgt.2_5'Flank	p.H238Q	NM_001635	NP_001626	P49418	AMPH_HUMAN			9	783	-			238			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.714C>G	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490918	0.44249	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070	T;T;T	0.41065	1.01;1.01;1.01	5.87	-11.7	0.00046	BAR (1);	0.107286	0.64402	D	0.000002	T	0.44829	0.1312	L	0.38531	1.155	0.30126	N	0.805235	D;D	0.71674	0.998;0.998	D;P	0.64877	0.93;0.899	T	0.79482	-0.1785	10	0.49607	T	0.09	-26.1083	20.1993	0.98256	0.4304:0.0:0.5696:0.0	.	238;238	P49418-2;P49418	.;AMPH_HUMAN	Q	238;238;238;8;238	ENSP00000317441:H238Q;ENSP00000348602:H238Q;ENSP00000390734:H238Q	ENSP00000317441:H238Q	H	-	3	2	AMPH	38471627	0.001000	0.12720	0.045000	0.18777	0.933000	0.57130	-1.559000	0.02162	-3.327000	0.00186	-2.154000	0.00331	CAC		PASS	0.502	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		6	13	6	13	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40314128	40314128	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:40314128G>T	ENST00000335693.4	+	8	637	c.614G>T	c.(613-615)cGc>cTc	p.R205L	C7orf10_ENST00000309930.5_Missense_Mutation_p.R205L|C7orf10_ENST00000401647.2_Intron	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		205					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.R205L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATCCAGTTCGCCCAGGAGTA	0.368																																						uc003thn.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(592-594)CGC>CTC		dermal papilla derived protein 13							87.0	81.0	83.0					7																	40314128		1875	4107	5982	SO:0001583	missense	79783						transferase activity	g.chr7:40314128G>T																												ENST00000335693.4:c.614G>T	7.37:g.40314128G>T	ENSP00000338475:p.Arg205Leu					C7orf10_uc003thm.1_Missense_Mutation_p.R168L|C7orf10_uc003tho.1_Intron	p.R198L	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			8	638	+			205					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.593G>T	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.301110|4.301110	0.81136|0.81136	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000416370|ENST00000309930;ENST00000335693	.|D;T	.|0.85773	.|-2.03;0.71	5.45|5.45	2.66|2.66	0.31614|0.31614	.|CoA-transferase family III domain (2);	.|0.106929	.|0.64402	.|D	.|0.000012	D|D	0.88081|0.88081	0.6341|0.6341	L|L	0.60012|0.60012	1.86|1.86	0.80722|0.80722	D|D	1|1	.|D;D	.|0.57257	.|0.979;0.974	.|P;P	.|0.62649	.|0.905;0.846	D|D	0.86376|0.86376	0.1726|0.1726	5|10	.|0.87932	.|D	.|0	-1.0104|-1.0104	8.6768|8.6768	0.34185|0.34185	0.1316:0.0:0.7446:0.1238|0.1316:0.0:0.7446:0.1238	.|.	.|205;168	.|Q9HAC7;Q9HAC7-2	.|CG010_HUMAN;.	S|L	200|205	.|ENSP00000312054:R205L;ENSP00000338475:R205L	.|ENSP00000312054:R205L	A|R	+|+	1|2	0|0	C7orf10|C7orf10	40280653|40280653	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.920000|0.920000	0.55202|0.55202	6.024000|6.024000	0.70857|0.70857	0.359000|0.359000	0.24239|0.24239	0.655000|0.655000	0.94253|0.94253	GCC|CGC		PASS	0.368	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			17	56	17	56	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82582540	82582540	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:82582540T>C	ENST00000333891.9	-	5	8066	c.7729A>G	c.(7729-7731)Aca>Gca	p.T2577A	PCLO_ENST00000423517.2_Missense_Mutation_p.T2577A|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T2577A(2)|p.T2508A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAAGTTTCTGTGAGGGATTTG	0.438																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(7729-7731)ACA>GCA		piccolo isoform 1							133.0	129.0	130.0					7																	82582540		1840	4093	5933	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82582540T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.7729A>G	7.37:g.82582540T>C	ENSP00000334319:p.Thr2577Ala					PCLO_uc003uhv.2_Missense_Mutation_p.T2577A|PCLO_uc010lec.2_5'Flank	p.T2577A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8018	-			2508						Missense_Mutation	SNP	ENST00000333891.9	37	c.7729A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	5.379	0.255231	0.10185	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.43	4.66	3.41	0.39046	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.58432	D	0.999993	B;B	0.15930	0.015;0.015	B;B	0.16289	0.015;0.015	T	0.11372	-1.0590	9	0.87932	D	0	.	6.8626	0.24076	0.1995:0.0:0.1264:0.6742	.	2577;2577	Q9Y6V0-5;Q9Y6V0-6	.;.	A	2508;2577;2577	ENSP00000334319:T2577A;ENSP00000388393:T2577A	ENSP00000334319:T2577A	T	-	1	0	PCLO	82420476	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	5.239000	0.65371	1.742000	0.51746	0.397000	0.26171	ACA		PASS	0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		92	176	92	176	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95709710	95709710	+	Silent	SNP	C	C	A	rs145003989		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:95709710C>A	ENST00000324972.6	+	16	1930	c.1737C>A	c.(1735-1737)tcC>tcA	p.S579S	DYNC1I1_ENST00000437599.1_Silent_p.S559S|DYNC1I1_ENST00000457059.1_Silent_p.S562S|DYNC1I1_ENST00000537881.1_Silent_p.S542S|DYNC1I1_ENST00000359388.4_Silent_p.S542S|DYNC1I1_ENST00000447467.2_Silent_p.S562S	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	579					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.S579S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AGGGGGCATCCGCCCTAAACC	0.468																																						uc003uoc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1735-1737)TCC>TCA		dynein, cytoplasmic 1, intermediate chain 1							169.0	141.0	151.0					7																	95709710		2203	4300	6503	SO:0001819	synonymous_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95709710C>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1737C>A	7.37:g.95709710C>A						DYNC1I1_uc003uod.3_Silent_p.S562S|DYNC1I1_uc003uob.2_Silent_p.S542S|DYNC1I1_uc003uoe.3_Silent_p.S559S|DYNC1I1_uc010lfl.2_Silent_p.S568S	p.S579S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		16	2014	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		579			WD 7.		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Silent	SNP	ENST00000324972.6	37	c.1737C>A	CCDS5644.1																																																																																				PASS	0.468	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		27	192	27	192	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99691659	99691659	+	Intron	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:99691659G>A	ENST00000303887.5	-	13	2494				MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Intron|MIR106B_ENST00000385301.1_RNA|MIR93_ENST00000385024.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCACGGAGAGGACCACTATCT	0.602																																						hsa-mir-106b|MI0000734																			0					0															41.0	42.0	42.0					7																	99691659		1568	3580	5148	SO:0001627	intron_variant	406900							g.chr7:99691659G>A		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1848+136C>T	7.37:g.99691659G>A						MCM7_uc003usv.1_Intron|MCM7_uc003usw.1_Intron|MCM7_uc003usx.1_Intron|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_RNA										-								A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	RNA	SNP	ENST00000303887.5	37	c.39G>A	CCDS5683.1																																																																																				PASS	0.602	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			11	29	11	29	---	---	---	---
AP4M1	9179	broad.mit.edu	37	7	99701047	99701047	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:99701047C>A	ENST00000359593.4	+	5	525	c.367C>A	c.(367-369)Cag>Aag	p.Q123K	AP4M1_ENST00000429084.1_Missense_Mutation_p.Q130K|AP4M1_ENST00000421755.1_Missense_Mutation_p.Q123K|MCM7_ENST00000303887.5_5'Flank|MCM7_ENST00000343023.6_5'Flank|MCM7_ENST00000354230.3_5'Flank|AP4M1_ENST00000478501.1_3'UTR|AP4M1_ENST00000422582.1_5'UTR	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	123					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)	p.Q123K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCTATGTACAGACCACATC	0.547																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CAG>AAG		adaptor-related protein complex 4, mu 1 subunit							103.0	94.0	97.0					7																	99701047		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701047C>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.367C>A	7.37:g.99701047C>A	ENSP00000352603:p.Gln123Lys					MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Intron|AP4M1_uc010lgl.1_Missense_Mutation_p.Q123K|AP4M1_uc003utc.3_Missense_Mutation_p.Q130K|AP4M1_uc010lgm.2_5'UTR|AP4M1_uc003utd.2_Missense_Mutation_p.Q123K|AP4M1_uc011kjh.1_Missense_Mutation_p.Q75K|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_5'UTR	p.Q123K	NM_004722	NP_004713	O00189	AP4M1_HUMAN			5	575	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		123					D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.367C>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940182	0.52972	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755	T;T;T;T;T	0.81078	-1.29;-1.42;-1.45;-1.27;-1.45	4.64	4.64	0.57946	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.92100	0.7496	H	0.94345	3.525	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.982	D;P;P	0.75484	0.986;0.828;0.828	D	0.94135	0.7392	10	0.87932	D	0	-11.2553	15.0438	0.71811	0.0:1.0:0.0:0.0	.	75;130;123	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	K	55;130;123;79;123	ENSP00000401613:Q55K;ENSP00000403663:Q130K;ENSP00000352603:Q123K;ENSP00000414286:Q79K;ENSP00000412185:Q123K	ENSP00000352603:Q123K	Q	+	1	0	AP4M1	99538983	1.000000	0.71417	0.941000	0.38009	0.289000	0.27227	6.766000	0.74970	2.388000	0.81334	0.462000	0.41574	CAG		PASS	0.547	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		47	66	47	66	---	---	---	---
PMPCB	9512	broad.mit.edu	37	7	102939977	102939977	+	Splice_Site	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:102939977G>T	ENST00000249269.4	+	3	365		c.e3+1		PMPCB_ENST00000428154.1_Splice_Site|PMPCB_ENST00000420236.2_Splice_Site	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCTTTCAAGGCAAGTTGTAA	0.383																																						uc003vbl.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e3+1		mitochondrial processing peptidase beta subunit							97.0	88.0	91.0					7																	102939977		2203	4300	6503	SO:0001630	splice_region_variant	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102939977G>T	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.327+1G>T	7.37:g.102939977G>T						PMPCB_uc010liu.1_Splice_Site_p.K109_splice|PMPCB_uc003vbk.1_Splice_Site_p.K109_splice|PMPCB_uc003vbm.2_Missense_Mutation_p.R17S|PMPCB_uc010liv.2_Missense_Mutation_p.R17S|PMPCB_uc010liw.2_Missense_Mutation_p.R17S|PMPCB_uc011kll.1_Splice_Site_p.K4_splice|PMPCB_uc011klm.1_5'Flank	p.K109_splice	NM_004279	NP_004270	O75439	MPPB_HUMAN			3	361	+								O60416|Q96FV4	Splice_Site	SNP	ENST00000249269.4	37	c.327_splice	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380399	0.82682	.	.	ENSG00000105819	ENST00000249269;ENST00000428154;ENST00000420236	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6731	0.91518	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PMPCB	102727213	1.000000	0.71417	0.990000	0.47175	0.919000	0.55068	9.813000	0.99286	2.463000	0.83235	0.650000	0.86243	.		PASS	0.383	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279	Intron	4	48	4	48	---	---	---	---
PSMC2	5701	broad.mit.edu	37	7	103002523	103002523	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:103002523G>A	ENST00000435765.1	+	6	821	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PSMC2_ENST00000292644.3_Missense_Mutation_p.G137E|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_5'UTR|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.G137E(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ATTGAAGAAGGGATGAGAGTG	0.393																																						uc003vbs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)GGG>GAG		proteasome 26S ATPase subunit 2							143.0	135.0	138.0					7																	103002523		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103002523G>A	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.410G>A	7.37:g.103002523G>A	ENSP00000391211:p.Gly137Glu					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011kln.1_Missense_Mutation_p.G137E|PSMC2_uc011klo.1_5'UTR	p.G137E	NM_002803	NP_002794	P35998	PRS7_HUMAN			5	480	+			137					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.410G>A	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015447	0.93404	.	.	ENSG00000161057	ENST00000435765;ENST00000292644	D;D	0.95137	-3.62;-3.62	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98068	0.9363	M	0.93978	3.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99091	1.0840	9	.	.	.	-20.0932	18.9171	0.92510	0.0:0.0:1.0:0.0	.	137	P35998	PRS7_HUMAN	E	137	ENSP00000391211:G137E;ENSP00000292644:G137E	.	G	+	2	0	PSMC2	102789759	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.645000	0.98471	2.548000	0.85928	0.555000	0.69702	GGG		PASS	0.393	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803		15	61	15	61	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131864544	131864544	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:131864544G>A	ENST00000359827.3	-	20	4738	c.3776C>T	c.(3775-3777)gCc>gTc	p.A1259V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1259V			Q9HCM2	PLXA4_HUMAN	plexin A4	1259					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.A1259V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCGTTTATAGGCAATGAGCAC	0.607																																						uc003vra.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3775-3777)GCC>GTC		plexin A4 isoform 1							43.0	43.0	43.0					7																	131864544		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131864544G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3776C>T	7.37:g.131864544G>A	ENSP00000352882:p.Ala1259Val						p.A1259V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	4005	-			1259			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3776C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422203	0.83559	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.00840	5.63;5.63	4.92	4.92	0.64577	.	2.171030	0.01544	N	0.019364	T	0.04907	0.0132	L	0.53617	1.68	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.62854	-0.6766	10	0.02654	T	1	.	18.3041	0.90175	0.0:0.0:1.0:0.0	.	1259	Q9HCM2	PLXA4_HUMAN	V	1259	ENSP00000323194:A1259V;ENSP00000352882:A1259V	ENSP00000323194:A1259V	A	-	2	0	PLXNA4	131515084	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.618000	0.98365	2.582000	0.87167	0.484000	0.47621	GCC		PASS	0.607	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		13	41	13	41	---	---	---	---
EXOC4	60412	broad.mit.edu	37	7	132973849	132973849	+	Silent	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:132973849T>C	ENST00000253861.4	+	3	479	c.450T>C	c.(448-450)taT>taC	p.Y150Y	EXOC4_ENST00000393161.2_Silent_p.Y150Y|EXOC4_ENST00000539845.1_Silent_p.Y49Y	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	150					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.Y150Y(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAAGCACTATCTCAGTGCCA	0.413																																						uc003vrk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(448-450)TAT>TAC		SEC8 protein isoform a							80.0	59.0	66.0					7																	132973849		2203	4300	6503	SO:0001819	synonymous_variant	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132973849T>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.450T>C	7.37:g.132973849T>C						EXOC4_uc011kpo.1_Silent_p.Y49Y|EXOC4_uc003vri.2_Silent_p.Y150Y|EXOC4_uc003vrj.2_Silent_p.Y150Y	p.Y150Y	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			3	485	+		Esophageal squamous(399;0.129)	150					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	ENST00000253861.4	37	c.450T>C	CCDS5829.1																																																																																				PASS	0.413	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		20	28	20	28	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149148159	149148159	+	Missense_Mutation	SNP	C	C	A	rs73166023		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:149148159C>A	ENST00000247930.4	-	4	1341	c.1018G>T	c.(1018-1020)Ggg>Tgg	p.G340W		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	340	Glu-rich.|KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G340W(1)		large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCCGCTCCCCGCGCTCCATC	0.547																																						uc003wfv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1018-1020)GGG>TGG		zinc finger protein 777							94.0	97.0	96.0					7																	149148159		2055	4195	6250	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149148159C>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1018G>T	7.37:g.149148159C>A	ENSP00000247930:p.Gly340Trp						p.G340W	NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		4	1181	-	Melanoma(164;0.165)		340			Glu-rich.|KRAB.		Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.1018G>T	CCDS43675.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.327932	0.60743	.	.	ENSG00000196453	ENST00000247930;ENST00000314683	T	0.01034	5.42	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000050	T	0.07369	0.0186	M	0.87456	2.885	0.42134	D	0.991481	D	0.89917	1.0	D	0.97110	1.0	T	0.00632	-1.1635	10	0.87932	D	0	-39.4701	16.8613	0.86019	0.0:1.0:0.0:0.0	.	340	Q9ULD5-2	.	W	340;83	ENSP00000247930:G340W	ENSP00000247930:G340W	G	-	1	0	ZNF777	148779092	0.363000	0.24989	0.995000	0.50966	0.337000	0.28794	4.912000	0.63335	2.567000	0.86603	0.650000	0.86243	GGG		PASS	0.547	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		40	122	40	122	---	---	---	---
UBE3C	9690	broad.mit.edu	37	7	156967697	156967697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:156967697C>T	ENST00000348165.5	+	5	787	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	UBE3C_ENST00000389103.4_Nonsense_Mutation_p.Q100*	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	143					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q143*(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATGCTTATTTCAGATAAAAAG	0.363																																						uc010lqs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|large_intestine(1)	5						c.(427-429)CAG>TAG		ubiquitin protein ligase E3C							105.0	106.0	106.0					7																	156967697		2203	4299	6502	SO:0001587	stop_gained	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156967697C>T	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.427C>T	7.37:g.156967697C>T	ENSP00000309198:p.Gln143*					UBE3C_uc003wnf.2_Nonsense_Mutation_p.Q100*|UBE3C_uc003wng.2_Nonsense_Mutation_p.Q143*	p.Q143*	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	5	739	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	143					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Nonsense_Mutation	SNP	ENST00000348165.5	37	c.427C>T	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	37	6.425010	0.97555	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	.	.	.	5.87	5.87	0.94306	.	0.049782	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-17.9172	20.2079	0.98282	0.0:1.0:0.0:0.0	.	.	.	.	X	143;100	.	ENSP00000309198:Q143X	Q	+	1	0	UBE3C	156660458	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	6.798000	0.75155	2.781000	0.95711	0.655000	0.94253	CAG		PASS	0.363	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		23	70	23	70	---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157926637	157926637	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:157926637G>T	ENST00000389418.4	-	9	1297	c.1288C>A	c.(1288-1290)Cac>Aac	p.H430N	PTPRN2_ENST00000389413.3_Missense_Mutation_p.H430N|PTPRN2_ENST00000389416.4_Missense_Mutation_p.H413N|PTPRN2_ENST00000404321.2_Missense_Mutation_p.H453N|PTPRN2_ENST00000409483.1_Missense_Mutation_p.H392N	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	430					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H430N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GACTCAGGGTGCTCGGACTTC	0.602																																						uc003wno.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1288-1290)CAC>AAC		protein tyrosine phosphatase, receptor type, N							69.0	72.0	71.0					7																	157926637		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926637G>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1288C>A	7.37:g.157926637G>T	ENSP00000374069:p.His430Asn					PTPRN2_uc003wnp.2_Missense_Mutation_p.H413N|PTPRN2_uc003wnq.2_Missense_Mutation_p.H430N|PTPRN2_uc003wnr.2_Missense_Mutation_p.H392N|PTPRN2_uc011kwa.1_Missense_Mutation_p.H453N	p.H430N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1409	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	430			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1288C>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	4.665	0.123679	0.08931	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02709	4.2;4.19;4.19;4.19;4.19	3.86	0.74	0.18330	.	1.945050	0.03591	U	0.231883	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.002;0.004;0.002;0.002	B;B;B;B;B	0.14023	0.01;0.003;0.01;0.005;0.005	T	0.47407	-0.9120	10	0.17832	T	0.49	.	7.2025	0.25889	0.0:0.5196:0.3756:0.1048	.	453;392;430;413;430	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	N	392;430;413;430;453	ENSP00000387114:H392N;ENSP00000374064:H430N;ENSP00000374067:H413N;ENSP00000374069:H430N;ENSP00000385464:H453N	ENSP00000374064:H430N	H	-	1	0	PTPRN2	157619398	0.130000	0.22417	0.000000	0.03702	0.005000	0.04900	0.693000	0.25497	-0.118000	0.11851	0.484000	0.47621	CAC		PASS	0.602	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			15	178	15	178	---	---	---	---
SLC25A37	51312	broad.mit.edu	37	8	23428853	23428853	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:23428853A>T	ENST00000519973.1	+	4	700	c.502A>T	c.(502-504)Aag>Tag	p.K168*	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	168					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)	p.K168*(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CACAGTGGTGAAGCAGCGCTT	0.627																																						uc003xdo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(502-504)AAG>TAG		solute carrier family 25, member 37							23.0	25.0	24.0					8																	23428853		2094	4213	6307	SO:0001587	stop_gained	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23428853A>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.502A>T	8.37:g.23428853A>T	ENSP00000429200:p.Lys168*					SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank	p.K168*	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	4	655	+		Prostate(55;0.114)	168			Solcar 2.		A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Nonsense_Mutation	SNP	ENST00000519973.1	37	c.502A>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	A	36	5.673296	0.96754	.	.	ENSG00000147454	ENST00000519973	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1861	13.5398	0.61668	1.0:0.0:0.0:0.0	.	.	.	.	X	168	.	ENSP00000429200:K168X	K	+	1	0	SLC25A37	23484798	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	8.962000	0.93254	1.867000	0.54127	0.477000	0.44152	AAG		PASS	0.627	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		3	8	3	8	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35648047	35648047	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:35648047C>A	ENST00000404895.2	+	17	3156	c.2828C>A	c.(2827-2829)gCc>gAc	p.A943D	AC012215.1_ENST00000437887.1_5'Flank|UNC5D_ENST00000449677.1_Missense_Mutation_p.A519D|UNC5D_ENST00000453357.2_Missense_Mutation_p.A938D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A948D|UNC5D_ENST00000420357.1_Missense_Mutation_p.A876D|UNC5D_ENST00000287272.2_Missense_Mutation_p.A874D	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	943					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A938D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTGATGAAGCCGACTTCAAC	0.493																																						uc003xjr.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2827-2829)GCC>GAC		unc-5 homolog D precursor							93.0	81.0	85.0					8																	35648047		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35648047C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2828C>A	8.37:g.35648047C>A	ENSP00000385143:p.Ala943Asp					UNC5D_uc003xjs.1_Missense_Mutation_p.A938D|UNC5D_uc003xju.1_Missense_Mutation_p.A519D	p.A943D	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	17	3156	+			943			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2828C>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881479	0.72294	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.57752	0.42;0.87;0.85;0.43;0.38;2.33	5.85	5.85	0.93711	.	0.483745	0.22144	N	0.064014	T	0.38825	0.1055	N	0.08118	0	0.45216	D	0.998229	B;B;B	0.18310	0.004;0.027;0.004	B;B;B	0.16289	0.004;0.015;0.007	T	0.25082	-1.0142	10	0.66056	D	0.02	-15.1119	20.1576	0.98120	0.0:1.0:0.0:0.0	.	519;938;943	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	D	943;876;874;948;938;519	ENSP00000385143:A943D;ENSP00000392739:A876D;ENSP00000287272:A874D;ENSP00000412652:A948D;ENSP00000394303:A938D;ENSP00000397211:A519D	ENSP00000287272:A874D	A	+	2	0	UNC5D	35767589	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	5.136000	0.64783	2.773000	0.95371	0.650000	0.86243	GCC		PASS	0.493	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			64	31	64	31	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39525515	39525515	+	Splice_Site	SNP	A	A	T	rs565662899		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:39525515A>T	ENST00000265707.5	+	14	1371		c.e14-1		ADAM18_ENST00000379866.1_Splice_Site|ADAM18_ENST00000541111.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						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.?(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)			TTTTCCTCCCAGTTGTCAATA	0.318																																						uc003xni.2																			1	Unknown(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.e14-2		a disintegrin and metalloprotease domain 18							125.0	125.0	125.0					8																	39525515		2203	4300	6503	SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525515A>T	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.1327-1A>T	8.37:g.39525515A>T						ADAM18_uc010lww.2_Splice_Site|ADAM18_uc010lwx.2_Splice_Site_p.L419_splice	p.L443_splice	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1327	+		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)						B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	SNP	ENST00000265707.5	37	c.1327_splice	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	A	15.02	2.710102	0.48517	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6657	0.51372	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADAM18	39644672	0.998000	0.40836	0.536000	0.28039	0.097000	0.18754	4.937000	0.63513	2.257000	0.74773	0.459000	0.35465	.		PASS	0.318	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237	Intron	76	39	76	39	---	---	---	---
ANK1	286	broad.mit.edu	37	8	41615632	41615632	+	Silent	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:41615632C>G	ENST00000347528.4	-	2	134	c.51G>C	c.(49-51)ctG>ctC	p.L17L	ANK1_ENST00000396942.1_Silent_p.L17L|ANK1_ENST00000379758.2_Silent_p.L17L|ANK1_ENST00000396945.1_Silent_p.L17L|ANK1_ENST00000352337.4_Silent_p.L17L|ANK1_ENST00000289734.7_Silent_p.L17L|ANK1_ENST00000265709.8_Silent_p.L50L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	17	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L17L(1)|p.L50L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGCTGCTCTCAGAAAGCTGG	0.527																																						uc003xok.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(49-51)CTG>CTC		ankyrin 1 isoform 1							248.0	238.0	241.0					8																	41615632		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41615632C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.51G>C	8.37:g.41615632C>G						NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.L17L|ANK1_uc003xoj.2_Silent_p.L17L|ANK1_uc003xol.2_Silent_p.L17L|ANK1_uc003xom.2_Silent_p.L50L	p.L17L	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	135	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	17			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.51G>C	CCDS6119.1																																																																																				PASS	0.527	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		8	605	8	605	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53586629	53586629	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:53586629T>A	ENST00000025008.5	-	7	1301	c.778A>T	c.(778-780)Aag>Tag	p.K260*	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.K260*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.K260*	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	260					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.K260*(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCCACTGACTTGGGAAATGAG	0.418																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(778-780)AAG>TAG		Rb1-inducible coiled coil protein 1 isoform 1							267.0	245.0	252.0					8																	53586629		2203	4300	6503	SO:0001587	stop_gained	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53586629T>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.778A>T	8.37:g.53586629T>A	ENSP00000025008:p.Lys260*					RB1CC1_uc003xrf.3_Nonsense_Mutation_p.K260*	p.K260*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			7	1336	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	260					Q86YR4|Q8WVU9|Q92601	Nonsense_Mutation	SNP	ENST00000025008.5	37	c.778A>T	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	39	7.833322	0.98516	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	.	.	.	5.36	5.36	0.76844	.	0.405709	0.26816	N	0.022357	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-8.5613	15.6438	0.77033	0.0:0.0:0.0:1.0	.	.	.	.	X	260	.	ENSP00000025008:K260X	K	-	1	0	RB1CC1	53749182	1.000000	0.71417	1.000000	0.80357	0.387000	0.30353	4.963000	0.63694	2.151000	0.67156	0.383000	0.25322	AAG		PASS	0.418	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		133	100	133	100	---	---	---	---
ATP6V0D2	245972	broad.mit.edu	37	8	87126017	87126017	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:87126017T>G	ENST00000285393.3	+	2	352	c.210T>G	c.(208-210)atT>atG	p.I70M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	70					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.I70M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTTCCAAAATTGACACTGAGA	0.388																																						uc003ydp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(208-210)ATT>ATG		ATPase, H+ transporting, lysosomal 38kDa, V0							151.0	158.0	156.0					8																	87126017		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87126017T>G	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.210T>G	8.37:g.87126017T>G	ENSP00000285393:p.Ile70Met						p.I70M	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			2	279	+			70						Missense_Mutation	SNP	ENST00000285393.3	37	c.210T>G	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508762	0.64410	.	.	ENSG00000147614	ENST00000285393	T	0.38722	1.12	5.24	0.0754	0.14399	.	0.066973	0.64402	D	0.000010	T	0.65428	0.2690	M	0.91612	3.225	0.46849	D	0.999221	D	0.69078	0.997	D	0.83275	0.996	T	0.65245	-0.6215	10	0.66056	D	0.02	-20.3844	8.3572	0.32338	0.0:0.366:0.0:0.634	.	70	Q8N8Y2	VA0D2_HUMAN	M	70	ENSP00000285393:I70M	ENSP00000285393:I70M	I	+	3	3	ATP6V0D2	87195133	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	0.811000	0.27198	-0.112000	0.11979	0.528000	0.53228	ATT		PASS	0.388	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		96	165	96	165	---	---	---	---
ZC3H3	23144	broad.mit.edu	37	8	144550572	144550572	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr8:144550572C>T	ENST00000262577.5	-	7	2116	c.2085G>A	c.(2083-2085)gaG>gaA	p.E695E		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	695					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E695E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CGGCCACCTTCTCGGGATCGT	0.667																																						uc003yyd.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2083-2085)GAG>GAA		zinc finger CCCH-type containing 3							35.0	35.0	35.0					8																	144550572		2201	4300	6501	SO:0001819	synonymous_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144550572C>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2085G>A	8.37:g.144550572C>T							p.E695E	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		7	2114	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		695			C3H1-type 1.		Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	c.2085G>A	CCDS6402.1																																																																																				PASS	0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		19	14	19	14	---	---	---	---
CCDC171	203238	broad.mit.edu	37	9	15745613	15745613	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr9:15745613C>T	ENST00000380701.3	+	18	2983	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D	CCDC171_ENST00000297641.3_Silent_p.D885D	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	885								p.D152D(1)|p.D885D(1)									AATTACAAGACGTCATTGGTA	0.363																																						uc003zmd.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2653-2655)GAC>GAT		hypothetical protein LOC203238							222.0	221.0	221.0					9																	15745613		2203	4300	6503	SO:0001819	synonymous_variant	203238							g.chr9:15745613C>T	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2655C>T	9.37:g.15745613C>T						C9orf93_uc003zme.2_Silent_p.D800D|C9orf93_uc011lmu.1_Silent_p.D893D|C9orf93_uc003zmf.1_Silent_p.D193D	p.D885D	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN		GBM - Glioblastoma multiforme(50;4.84e-07)	18	2970	+			885					B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	ENST00000380701.3	37	c.2655C>T	CCDS6481.1	.	.	.	.	.	.	.	.	.	.	C	0.248	-1.008817	0.02112	.	.	ENSG00000164989	ENST00000449575	.	.	.	5.03	-4.4	0.03600	.	.	.	.	.	T	0.40297	0.1111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37641	-0.9697	4	.	.	.	-0.9084	3.9218	0.09247	0.3234:0.4014:0.0625:0.2128	.	.	.	.	M	125	.	.	T	+	2	0	C9orf93	15735613	0.998000	0.40836	0.941000	0.38009	0.154000	0.21943	0.535000	0.23114	-0.699000	0.05077	-1.604000	0.00809	ACG		PASS	0.363	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550		20	177	20	177	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634826	32634826	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr9:32634826G>T	ENST00000242310.4	-	1	841	c.752C>A	c.(751-753)cCa>cAa	p.P251Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	251					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.P251Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCGAAATTCTGGAAAAAGTTC	0.488																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(751-753)CCA>CAA		TBP-associated factor RNA polymerase 1-like							129.0	120.0	123.0					9																	32634826		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634826G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.752C>A	9.37:g.32634826G>T	ENSP00000418379:p.Pro251Gln					uc003zrh.1_RNA	p.P251Q	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	842	-			251					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.752C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458298	0.26248	.	.	ENSG00000122728	ENST00000242310	T	0.18657	2.2	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.83118	2.625	0.53005	D	0.999967	D	0.54601	0.967	P	0.58620	0.842	T	0.27706	-1.0066	10	0.87932	D	0	.	7.4859	0.27432	0.0:0.0:1.0:0.0	.	251	Q8IZX4	TAF1L_HUMAN	Q	251	ENSP00000418379:P251Q	ENSP00000418379:P251Q	P	-	2	0	TAF1L	32624826	1.000000	0.71417	0.991000	0.47740	0.633000	0.38033	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	CCA		PASS	0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			59	101	59	101	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130206949	130206949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr9:130206949C>T	ENST00000342483.5	+	5	1376	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	ZNF79_ENST00000543471.1_Nonsense_Mutation_p.Q300*	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	324					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.Q324*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CACGAACCATCAGAGGACTCA	0.552																																						uc004bqw.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(970-972)CAG>TAG		zinc finger protein 79							115.0	105.0	108.0					9																	130206949		2203	4300	6503	SO:0001587	stop_gained	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206949C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.970C>T	9.37:g.130206949C>T	ENSP00000362446:p.Gln324*					ZNF79_uc011maf.1_Nonsense_Mutation_p.Q300*|ZNF79_uc011mag.1_Nonsense_Mutation_p.Q300*	p.Q324*	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1384	+			324			C2H2-type 5.		Q5VVW1|Q96NV1	Nonsense_Mutation	SNP	ENST00000342483.5	37	c.970C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	36	5.681313	0.96774	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	.	.	.	3.83	3.83	0.44106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	13.286	0.60243	0.0:1.0:0.0:0.0	.	.	.	.	X	324;300	.	ENSP00000362446:Q324X	Q	+	1	0	ZNF79	129246770	0.000000	0.05858	0.999000	0.59377	0.447000	0.32167	0.678000	0.25277	1.973000	0.57446	0.655000	0.94253	CAG		PASS	0.552	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		4	99	4	99	---	---	---	---
STKLD1	169436	broad.mit.edu	37	9	136253268	136253268	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr9:136253268A>T	ENST00000371957.3	+	5	439	c.332A>T	c.(331-333)aAt>aTt	p.N111I	C9orf96_ENST00000371955.1_De_novo_Start_OutOfFrame|C9orf96_ENST00000426926.2_Missense_Mutation_p.N111I	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		111	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.N111I(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGGAGTTCAATGAGCTCAGC	0.577																																						uc004cdk.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(2)	4						c.(331-333)AAT>ATT		hypothetical protein LOC169436							107.0	89.0	95.0					9																	136253268		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136253268A>T																												ENST00000371957.3:c.332A>T	9.37:g.136253268A>T	ENSP00000361025:p.Asn111Ile					C9orf96_uc004cdl.2_RNA	p.N111I	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	5	393	+			111			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.332A>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.158988	0.38119	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.18338	2.22;2.22	4.12	-7.97	0.01139	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.810390	0.02809	N	0.124089	T	0.10766	0.0263	L	0.33293	1	0.09310	N	0.999999	B	0.33000	0.393	B	0.33620	0.167	T	0.19386	-1.0307	10	0.22706	T	0.39	-5.8012	5.8826	0.18864	0.3546:0.2531:0.3924:0.0	.	111	Q8NE28	SGK71_HUMAN	I	111	ENSP00000398807:N111I;ENSP00000361025:N111I	ENSP00000361025:N111I	N	+	2	0	C9orf96	135243089	0.000000	0.05858	0.000000	0.03702	0.194000	0.23727	-2.387000	0.01060	-1.067000	0.03160	0.459000	0.35465	AAT		PASS	0.577	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			14	123	14	123	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137642656	137642656	+	Silent	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr9:137642656C>A	ENST00000371817.3	+	13	2004	c.1590C>A	c.(1588-1590)ggC>ggA	p.G530G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	530	Interrupted collagenous region.		G -> S (in EDS1 and EDS2; dbSNP:rs61735045). {ECO:0000269|PubMed:10602121, ECO:0000269|PubMed:11992482, ECO:0000269|PubMed:15580559}.		axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G530G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGTGGCGGCGATGCGGGCT	0.632																																						uc004cfe.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1588-1590)GGC>GGA		alpha 1 type V collagen preproprotein							38.0	39.0	38.0					9																	137642656		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137642656C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1590C>A	9.37:g.137642656C>A							p.G530G	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	13	1972	+		Myeloproliferative disorder(178;0.0341)	530			Interrupted collagenous region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.1590C>A	CCDS6982.1																																																																																				PASS	0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	28	13	28	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22676859	22676859	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr10:22676859C>A	ENST00000376624.3	+	6	928	c.786C>A	c.(784-786)gaC>gaA	p.D262E	SPAG6_ENST00000538630.1_Missense_Mutation_p.D237E|SPAG6_ENST00000376603.2_Missense_Mutation_p.D338E|SPAG6_ENST00000313311.6_Missense_Mutation_p.D262E|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	262					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.D262E(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GTCTGAAGGACAAGGATGAAT	0.388																																						uc001iri.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(784-786)GAC>GAA		sperm associated antigen 6 isoform 1							84.0	84.0	84.0					10																	22676859		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22676859C>A	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.786C>A	10.37:g.22676859C>A	ENSP00000365811:p.Asp262Glu					SPAG6_uc001irj.2_Missense_Mutation_p.D262E|SPAG6_uc010qct.1_Missense_Mutation_p.D232E|SPAG6_uc009xkh.2_Missense_Mutation_p.D240E	p.D262E	NM_012443	NP_036575	O75602	SPAG6_HUMAN			6	928	+			262			ARM 6.		A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.786C>A	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298641	0.81025	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.64	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	L	0.54863	1.705	0.58432	D	0.999998	D;D;D;D	0.71674	0.993;0.995;0.998;0.997	D;D;D;D	0.76071	0.957;0.987;0.976;0.957	T	0.80790	-0.1225	10	0.72032	D	0.01	-31.9689	12.2186	0.54420	0.0:0.9002:0.0:0.0998	.	237;338;262;262	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	E	262;338;237;262	ENSP00000365811:D262E;ENSP00000365788:D338E;ENSP00000441325:D237E;ENSP00000323599:D262E	ENSP00000323599:D262E	D	+	3	2	SPAG6	22716865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.729000	0.62008	1.128000	0.42052	0.655000	0.94253	GAC		PASS	0.388	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			13	19	13	19	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68979440	68979440	+	Silent	SNP	T	T	G	rs140926333		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr10:68979440T>G	ENST00000433211.2	-	6	942	c.768A>C	c.(766-768)tcA>tcC	p.S256S	CTNNA3_ENST00000373744.4_Silent_p.S256S|CTNNA3_ENST00000545309.1_Silent_p.S256S	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.S256S(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGATCCCTTGTGAAGCATTTG	0.458																																						uc009xpn.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(766-768)TCA>TCC		catenin, alpha 3							195.0	197.0	196.0					10																	68979440		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979440T>G	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.768A>C	10.37:g.68979440T>G						CTNNA3_uc001jmw.2_Silent_p.S256S|CTNNA3_uc001jmx.3_Silent_p.S256S|CTNNA3_uc009xpo.1_Silent_p.S116S|CTNNA3_uc001jna.2_Silent_p.S268S	p.S256S	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			6	891	-			256						Silent	SNP	ENST00000433211.2	37	c.768A>C	CCDS7269.1																																																																																				PASS	0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		62	107	62	107	---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70051922	70051922	+	Silent	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr10:70051922G>T	ENST00000358769.2	-	5	559	c.357C>A	c.(355-357)atC>atA	p.I119I	PBLD_ENST00000495025.2_Silent_p.I119I|PBLD_ENST00000309049.4_Silent_p.I119I|PBLD_ENST00000432941.1_Silent_p.I119I|PBLD_ENST00000336578.1_Silent_p.I86I	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	119					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.I119I(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGTCCAGGACGATGCCATCCT	0.468																																						uc001jns.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)	3						c.(355-357)ATC>ATA		MAWD binding protein isoform a							91.0	82.0	86.0					10																	70051922		2203	4300	6503	SO:0001819	synonymous_variant	64081				biosynthetic process		isomerase activity	g.chr10:70051922G>T	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.357C>A	10.37:g.70051922G>T						PBLD_uc001jnr.1_Silent_p.I86I|PBLD_uc001jnt.1_Silent_p.I119I|PBLD_uc001jnu.1_Silent_p.I119I|PBLD_uc001jnv.1_Silent_p.I86I	p.I119I	NM_022129	NP_071412	P30039	PBLD_HUMAN			5	560	-			119					A8MZJ3|C9JIM0|Q9HCC2	Silent	SNP	ENST00000358769.2	37	c.357C>A	CCDS7277.2																																																																																				PASS	0.468	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		15	79	15	79	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070737	81070737	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr10:81070737C>A	ENST00000334512.5	+	24	3464	c.2892C>A	c.(2890-2892)caC>caA	p.H964Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	964	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.H964Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AAGGTTTGCACGTACCACACC	0.642																																						uc001kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2890-2892)CAC>CAA		retinoic acid induced 17							110.0	107.0	108.0					10																	81070737		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070737C>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2892C>A	10.37:g.81070737C>A	ENSP00000334474:p.His964Gln					ZMIZ1_uc001kag.2_Missense_Mutation_p.H840Q|ZMIZ1_uc010qlq.1_Intron	p.H964Q	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3464	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		964			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2892C>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872154	0.72180	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.33654	1.4	4.85	4.85	0.62838	.	0.000000	0.43919	D	0.000505	T	0.54271	0.1848	M	0.71036	2.16	0.80722	D	1	D	0.56521	0.976	P	0.56042	0.79	T	0.55179	-0.8181	10	0.40728	T	0.16	-18.0624	18.3525	0.90343	0.0:1.0:0.0:0.0	.	964	Q9ULJ6	ZMIZ1_HUMAN	Q	964;894;865	ENSP00000334474:H964Q	ENSP00000334474:H964Q	H	+	3	2	ZMIZ1	80740743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.528000	0.53524	2.397000	0.81536	0.591000	0.81541	CAC		PASS	0.642	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		47	86	47	86	---	---	---	---
PRKCDBP	112464	broad.mit.edu	37	11	6340731	6340731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:6340731G>A	ENST00000303927.3	-	2	618	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	PRKCDBP_ENST00000530979.1_Nonsense_Mutation_p.Q182*	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	150					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)		p.Q150*(1)		large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		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)		AGCTCGGACTGGTCCGCCGGG	0.677																																						uc001mcu.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(448-450)CAG>TAG		protein kinase C, delta binding protein							12.0	13.0	12.0					11																	6340731		2194	4285	6479	SO:0001587	stop_gained	112464							g.chr11:6340731G>A	AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.448C>T	11.37:g.6340731G>A	ENSP00000307292:p.Gln150*						p.Q150*	NM_145040	NP_659477	Q969G5	PRDBP_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	482	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	150						Nonsense_Mutation	SNP	ENST00000303927.3	37	c.448C>T	CCDS7762.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989364	0.53934	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	.	.	.	4.81	2.81	0.32909	.	0.551385	0.18281	N	0.146020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-19.3607	8.4408	0.32814	0.0:0.1649:0.6662:0.1689	.	.	.	.	X	150;182	.	ENSP00000307292:Q150X	Q	-	1	0	PRKCDBP	6297307	0.086000	0.21541	0.094000	0.20943	0.405000	0.30901	1.857000	0.39399	2.235000	0.73313	0.561000	0.74099	CAG		PASS	0.677	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257228.2	NM_145040		8	16	8	16	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17542900	17542900	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:17542900T>C	ENST00000318024.4	-	13	1186	c.1078A>G	c.(1078-1080)Atg>Gtg	p.M360V	USH1C_ENST00000527720.1_Missense_Mutation_p.M329V|USH1C_ENST00000005226.7_Missense_Mutation_p.M360V|USH1C_ENST00000527020.1_Missense_Mutation_p.M341V	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	360					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.M360V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CACTGTTCCATCTCCTTCCGG	0.512																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1078-1080)ATG>GTG		harmonin isoform a							330.0	268.0	289.0					11																	17542900		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17542900T>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1078A>G	11.37:g.17542900T>C	ENSP00000317018:p.Met360Val					USH1C_uc001mne.2_Missense_Mutation_p.M360V|USH1C_uc009yhb.2_Missense_Mutation_p.M341V|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.M324V	p.M360V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			13	1187	-			360			Potential.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1078A>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.932998	0.52866	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.64085	1.82;1.8;2.1;-0.08	5.72	5.72	0.89469	.	0.194976	0.64402	D	0.000006	T	0.46658	0.1404	N	0.17082	0.46	0.45837	D	0.998702	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.36504	-0.9745	10	0.25751	T	0.34	.	14.9838	0.71330	0.0:0.0:0.0:1.0	.	341;360;360	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	V	360;329;341;360	ENSP00000317018:M360V;ENSP00000432944:M329V;ENSP00000436934:M341V;ENSP00000005226:M360V	ENSP00000005226:M360V	M	-	1	0	USH1C	17499476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.290000	0.72712	2.183000	0.69458	0.528000	0.53228	ATG		PASS	0.512	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		90	138	90	138	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587340	55587340	+	Missense_Mutation	SNP	G	G	T	rs142474714		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:55587340G>T	ENST00000333976.4	+	1	255	c.235G>T	c.(235-237)Gct>Tct	p.A79S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408													N|||	1	0.000199681	0.0008	0.0	5008	,	,		21072	0.0		0.0	False		,,,				2504	0.0					uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(235-237)GCT>TCT		olfactory receptor, family 5, subfamily D,		G	SER/ALA	2,4398		0,2,2198	242.0	232.0	235.0		235	3.0	0.9	11	dbSNP_134	235	0,8592		0,0,4296	yes	missense	OR5D18	NM_001001952.1	99	0,2,6494	TT,TG,GG		0.0,0.0455,0.0154	benign	79/314	55587340	2,12990	2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587340G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.235G>T	11.37:g.55587340G>T	ENSP00000335025:p.Ala79Ser						p.A79S	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	235	+		all_epithelial(135;0.208)	79			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.235G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.028409	0.35797	4.55E-4	0.0	ENSG00000186119	ENST00000333976	T	0.02032	4.49	4.94	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.620209	0.13471	N	0.385440	T	0.02610	0.0079	L	0.41824	1.3	0.09310	N	0.999999	B	0.23937	0.094	B	0.23419	0.046	T	0.38650	-0.9651	10	0.51188	T	0.08	-8.9258	7.9752	0.30151	0.257:0.0:0.743:0.0	.	79	Q8NGL1	OR5DI_HUMAN	S	79	ENSP00000335025:A79S	ENSP00000335025:A79S	A	+	1	0	OR5D18	55343916	0.000000	0.05858	0.856000	0.33681	0.834000	0.47266	-0.625000	0.05534	1.232000	0.43678	0.632000	0.83419	GCT		PASS	0.408	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		63	133	63	133	---	---	---	---
OR5D16	390144	broad.mit.edu	37	11	55607000	55607000	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:55607000T>C	ENST00000378396.1	+	1	773	c.773T>C	c.(772-774)cTc>cCc	p.L258P		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L258P(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGCACCATCCTCTTCCTCTAC	0.537																																						uc010rio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(772-774)CTC>CCC		olfactory receptor, family 5, subfamily D,							121.0	107.0	112.0					11																	55607000		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607000T>C	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.773T>C	11.37:g.55607000T>C	ENSP00000367649:p.Leu258Pro						p.L258P	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	773	+		all_epithelial(135;0.208)	258			Helical; Name=6; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.773T>C	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	14.18	2.458267	0.43634	.	.	ENSG00000205029	ENST00000378396	T	0.47528	0.84	4.43	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74191	0.3684	H	0.95114	3.625	0.09310	N	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.62656	-0.6808	9	0.87932	D	0	-22.9063	7.8561	0.29483	0.0:0.1789:0.0:0.8211	.	258	Q8NGK9	OR5DG_HUMAN	P	258	ENSP00000367649:L258P	ENSP00000367649:L258P	L	+	2	0	OR5D16	55363576	0.136000	0.22515	0.001000	0.08648	0.711000	0.40976	3.062000	0.49971	0.209000	0.20645	0.439000	0.28862	CTC		PASS	0.537	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		7	110	7	110	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904449	55904449	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:55904449G>T	ENST00000301529.1	-	1	745	c.746C>A	c.(745-747)aCg>aAg	p.T249K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T249K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATAGAAAACCGTGACTGCTAT	0.398																																						uc010riz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(745-747)ACG>AAG		olfactory receptor, family 8, subfamily J,							130.0	122.0	125.0					11																	55904449		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904449G>T		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.746C>A	11.37:g.55904449G>T	ENSP00000301529:p.Thr249Lys						p.T249K	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	746	-	Esophageal squamous(21;0.00693)		249			Helical; Name=6; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.746C>A	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392477	0.25118	.	.	ENSG00000167822	ENST00000301529	T	0.39997	1.05	3.27	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.178043	0.40144	N	0.001166	T	0.65450	0.2692	H	0.95004	3.61	0.09310	N	1	D	0.55605	0.972	P	0.59761	0.863	T	0.59600	-0.7424	10	0.72032	D	0.01	.	7.498	0.27500	0.2493:0.0:0.7507:0.0	.	249	Q8NGG0	OR8J3_HUMAN	K	249	ENSP00000301529:T249K	ENSP00000301529:T249K	T	-	2	0	OR8J3	55661025	0.001000	0.12720	0.006000	0.13384	0.146000	0.21551	0.752000	0.26362	0.368000	0.24481	0.297000	0.19635	ACG		PASS	0.398	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		5	77	5	77	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57117346	57117346	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:57117346C>A	ENST00000263314.2	+	7	713	c.679C>A	c.(679-681)Cag>Aag	p.Q227K		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	227					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.Q227K(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTTTGCGGGGCAGGATTTTGC	0.602											OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nju.2																			1	Substitution - Missense(1)		lung(1)		0						c.(679-681)CAG>AAG		purinergic receptor P2X3							67.0	57.0	60.0					11																	57117346		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57117346C>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.679C>A	11.37:g.57117346C>A	ENSP00000263314:p.Gln227Lys		OREG0020966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1020		p.Q227K	NM_002559	NP_002550	P56373	P2RX3_HUMAN			7	755	+			227			Extracellular (Potential).		Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.679C>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511744	0.96402	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04275	3.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.20700	0.0498	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.00013	-1.2415	10	0.54805	T	0.06	-21.9294	16.9372	0.86206	0.0:1.0:0.0:0.0	.	227	P56373	P2RX3_HUMAN	K	227	ENSP00000263314:Q227K	ENSP00000263314:Q227K	Q	+	1	0	P2RX3	56873922	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.200000	0.72118	2.729000	0.93468	0.650000	0.86243	CAG		PASS	0.602	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		15	36	15	36	---	---	---	---
HNRNPUL2	221092	broad.mit.edu	37	11	62483404	62483404	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:62483404C>A	ENST00000301785.5	-	12	2179	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.G663W	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	663						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G663W(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CGGCGCTGCCCGCCCACTGGA	0.602																																						uc001nuw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1987-1989)GGG>TGG		heterogeneous nuclear ribonucleoprotein U-like							24.0	27.0	26.0					11																	62483404		1955	4153	6108	SO:0001583	missense	221092				cell killing	nucleus	ATP binding|nucleic acid binding	g.chr11:62483404C>A		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1987G>T	11.37:g.62483404C>A	ENSP00000301785:p.Gly663Trp					HNRNPUL2_uc001nuu.1_RNA	p.G663W	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN			12	2180	-			663					Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	c.1987G>T	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203409	0.58234	.	.	ENSG00000214753	ENST00000301785	T	0.51325	0.71	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000017	T	0.62744	0.2453	L	0.54323	1.7	0.36908	D	0.890732	D	0.89917	1.0	D	0.87578	0.998	T	0.66139	-0.5998	10	0.38643	T	0.18	-18.0871	14.1339	0.65273	0.0:1.0:0.0:0.0	.	663	Q1KMD3	HNRL2_HUMAN	W	663	ENSP00000301785:G663W	ENSP00000301785:G663W	G	-	1	0	HNRNPUL2	62239980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.572000	0.60886	2.408000	0.81797	0.455000	0.32223	GGG		PASS	0.602	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877		8	22	8	22	---	---	---	---
SLC22A10	387775	broad.mit.edu	37	11	63071614	63071614	+	Silent	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:63071614G>T	ENST00000332793.6	+	8	1322	c.1320G>T	c.(1318-1320)ctG>ctT	p.L440L	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.W239L|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	440						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.L440L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TGGCATGTCTGGGAATCGGCT	0.488																																						uc009yor.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1318-1320)CTG>CTT		solute carrier family 22, member 10							189.0	198.0	195.0					11																	63071614		2108	4271	6379	SO:0001819	synonymous_variant	387775					integral to membrane	transmembrane transporter activity	g.chr11:63071614G>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1320G>T	11.37:g.63071614G>T						SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_RNA|SLC22A10_uc010rmp.1_Missense_Mutation_p.W234L	p.L440L	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN			8	1528	+			440			Helical; (Potential).		Q68CJ0	Silent	SNP	ENST00000332793.6	37	c.1320G>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	G	5.523	0.281495	0.10458	.	.	ENSG00000184999	ENST00000544661	T	0.65549	-0.16	3.05	0.905	0.19307	.	.	.	.	.	T	0.40979	0.1139	.	.	.	0.09310	N	0.999998	B	0.20780	0.048	B	0.20767	0.031	T	0.21008	-1.0258	7	.	.	.	.	3.9537	0.09380	0.1367:0.0:0.6326:0.2307	.	234	E9PJB1	.	L	239	ENSP00000445667:W239L	.	W	+	2	0	SLC22A10	62828190	0.417000	0.25432	0.007000	0.13788	0.012000	0.07955	-0.512000	0.06313	0.109000	0.17891	0.579000	0.79373	TGG		PASS	0.488	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		56	113	56	113	---	---	---	---
TMEM151A	256472	broad.mit.edu	37	11	66062455	66062455	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:66062455C>T	ENST00000327259.4	+	2	882	c.738C>T	c.(736-738)aaC>aaT	p.N246N		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	246						integral component of membrane (GO:0016021)		p.N246N(1)		central_nervous_system(1)|kidney(4)|lung(6)	11						TCAGCGCCAACGAGGGCCTGG	0.692																																						uc001ohl.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(736-738)AAC>AAT		transmembrane protein 151A							13.0	11.0	12.0					11																	66062455		2130	4134	6264	SO:0001819	synonymous_variant	256472					integral to membrane		g.chr11:66062455C>T	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.738C>T	11.37:g.66062455C>T							p.N246N	NM_153266	NP_694998	Q8N4L1	T151A_HUMAN			2	850	+			246					Q8ND14	Silent	SNP	ENST00000327259.4	37	c.738C>T	CCDS8133.1																																																																																				PASS	0.692	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		6	8	6	8	---	---	---	---
PELI3	246330	broad.mit.edu	37	11	66243384	66243384	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:66243384C>G	ENST00000320740.7	+	8	1316	c.1156C>G	c.(1156-1158)Ctc>Gtc	p.L386V	CTD-3074O7.5_ENST00000527274.2_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000349459.6_Missense_Mutation_p.L362V	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	386					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L386V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGAATGTCCTCTCTGCCGCCT	0.697																																						uc001oic.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)CTC>GTC		pellino 3 alpha isoform 1							19.0	17.0	18.0					11																	66243384		2184	4258	6442	SO:0001583	missense	246330					cytosol	protein binding	g.chr11:66243384C>G	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1156C>G	11.37:g.66243384C>G	ENSP00000322532:p.Leu386Val					PELI3_uc001oid.3_Missense_Mutation_p.L362V|PELI3_uc001oie.3_Missense_Mutation_p.L237V	p.L386V	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN			8	1320	+			386					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	ENST00000320740.7	37	c.1156C>G	CCDS31615.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334313	0.60853	.	.	ENSG00000174516	ENST00000349459;ENST00000320740	T;T	0.46451	0.87;0.87	5.17	5.17	0.71159	.	0.067317	0.64402	D	0.000018	T	0.44180	0.1281	L	0.40543	1.245	0.80722	D	1	P;P	0.41159	0.694;0.74	P;P	0.48738	0.452;0.588	T	0.39078	-0.9631	10	0.72032	D	0.01	-26.6915	11.1327	0.48356	0.1838:0.8161:0.0:0.0	.	362;386	Q8N2H9-2;Q8N2H9	.;PELI3_HUMAN	V	362;386	ENSP00000309848:L362V;ENSP00000322532:L386V	ENSP00000322532:L386V	L	+	1	0	PELI3	65999960	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	6.604000	0.74150	2.691000	0.91804	0.655000	0.94253	CTC		PASS	0.697	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		10	21	10	21	---	---	---	---
XRRA1	143570	broad.mit.edu	37	11	74644890	74644890	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:74644890A>G	ENST00000340360.6	-	5	638	c.307T>C	c.(307-309)Tca>Cca	p.S103P	XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.S103P|XRRA1_ENST00000321448.8_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1									p.S103P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CACAGATCTGATGGCTTCCTC	0.478																																						uc009yub.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)TCA>CCA		X-ray radiation resistance associated 1							87.0	86.0	86.0					11																	74644890		2045	4190	6235	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74644890A>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.307T>C	11.37:g.74644890A>G	ENSP00000339918:p.Ser103Pro					XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_5'UTR|XRRA1_uc001ovq.3_Missense_Mutation_p.S103P|XRRA1_uc001ovp.3_5'UTR|XRRA1_uc001ovr.2_5'UTR	p.S103P	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			5	639	-			103						Missense_Mutation	SNP	ENST00000340360.6	37	c.307T>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.215694	0.39102	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.54071	0.59;0.61;0.69	6.07	1.91	0.25777	.	0.468178	0.18355	N	0.143747	T	0.63319	0.2501	M	0.72894	2.215	0.21740	N	0.999567	D;D	0.76494	0.999;0.971	D;P	0.66196	0.942;0.839	T	0.50725	-0.8794	10	0.36615	T	0.2	-7.1606	6.7376	0.23419	0.5871:0.267:0.0:0.1458	.	103;103	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	P	103	ENSP00000339918:S103P;ENSP00000435838:S103P;ENSP00000437334:S103P	ENSP00000339918:S103P	S	-	1	0	XRRA1	74322538	0.865000	0.29922	0.376000	0.26042	0.088000	0.18126	1.531000	0.36018	0.488000	0.27723	0.528000	0.53228	TCA		PASS	0.478	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		9	8	9	8	---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885071	77885071	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:77885071T>C	ENST00000340067.3	-	2	808	c.530A>G	c.(529-531)cAc>cGc	p.H177R	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000528468.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000530261.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	177					protein homooligomerization (GO:0051260)			p.H177R(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTCCTGCAAGTGGCTGGTGAT	0.567																																						uc001ozb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(529-531)CAC>CGC		potassium channel tetramerisation domain							122.0	121.0	121.0					11																	77885071		2200	4292	6492	SO:0001583	missense	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885071T>C	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.530A>G	11.37:g.77885071T>C	ENSP00000339340:p.His177Arg						p.H177R	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	605	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		177					B4DTR0	Missense_Mutation	SNP	ENST00000340067.3	37	c.530A>G	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.336348	0.24253	.	.	ENSG00000188997	ENST00000340067	T	0.79033	-1.23	5.78	5.78	0.91487	.	0.323174	0.26742	N	0.022734	T	0.53769	0.1817	N	0.02539	-0.55	0.38899	D	0.957278	B	0.02656	0.0	B	0.08055	0.003	T	0.55673	-0.8104	10	0.13470	T	0.59	.	14.6852	0.69044	0.0:0.0:0.0:1.0	.	177	Q4G0X4	KCD21_HUMAN	R	177	ENSP00000339340:H177R	ENSP00000339340:H177R	H	-	2	0	KCTD21	77562719	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.001000	0.49488	2.214000	0.71695	0.528000	0.53228	CAC		PASS	0.567	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		60	85	60	85	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83809999	83810000	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:83809999_83810000GG>TT	ENST00000532653.1	-	5	702_703	c.400_401CC>AA	c.(400-402)CCa>AAa	p.P134K	DLG2_ENST00000376104.2_Missense_Mutation_p.P239K|DLG2_ENST00000531015.1_Missense_Mutation_p.P101K|DLG2_ENST00000280241.8_Missense_Mutation_p.P173K|DLG2_ENST00000398309.2_Missense_Mutation_p.P134K|DLG2_ENST00000524982.1_Missense_Mutation_p.P134K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.P73K|DLG2_ENST00000418306.2_Missense_Mutation_p.P83K|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000543673.1_Missense_Mutation_p.P239K|DLG2_ENST00000398301.2_Missense_Mutation_p.P173K			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.P173Q(1)|p.P239Q(1)|p.P173T(1)|p.P134K(1)|p.P239T(1)|p.P83K(1)|p.P83T(1)|p.P83Q(1)|p.P239K(1)|p.P134T(1)|p.P173K(1)|p.P134Q(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGCACCTCCTGGTATAATCTTC	0.431																																						uc001paj.2																			12	Substitution - Missense(12)		lung(12)	ovary(3)|pancreas(2)|skin(1)	6						c.(400-402)CCA>CAA|c.(400-402)CCA>ACA		chapsyn-110 isoform 2																																				SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83809999G>T|g.chr11:83810000G>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.400_401delinsTT	11.37:g.83809999_83810000delinsTT	ENSP00000435849:p.Pro134Lys					DLG2_uc001pai.2_Missense_Mutation_p.P83Q|DLG2_uc010rsy.1_Missense_Mutation_p.P101Q|DLG2_uc010rsz.1_Missense_Mutation_p.P134Q|DLG2_uc010rta.1_Missense_Mutation_p.P134Q|DLG2_uc001pak.2_Missense_Mutation_p.P239Q|DLG2_uc010rtb.1_Missense_Mutation_p.P101Q|DLG2_uc001pal.1_Missense_Mutation_p.P134Q|DLG2_uc001pam.1_Missense_Mutation_p.P173Q|DLG2_uc001pai.2_Missense_Mutation_p.P83T|DLG2_uc010rsy.1_Missense_Mutation_p.P101T|DLG2_uc010rsz.1_Missense_Mutation_p.P134T|DLG2_uc010rta.1_Missense_Mutation_p.P134T|DLG2_uc001pak.2_Missense_Mutation_p.P239T|DLG2_uc010rtb.1_Missense_Mutation_p.P101T|DLG2_uc001pal.1_Missense_Mutation_p.P134T|DLG2_uc001pam.1_Missense_Mutation_p.P173T	p.P134Q|p.P134T	NM_001364	NP_001355	Q15700	DLG2_HUMAN			5	704|703	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	134			PDZ 1.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.401C>A|c.400C>A																																																																																					PASS	0.431	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		5	9	5	9	---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124005701	124005701	+	Missense_Mutation	SNP	C	C	T	rs367908177		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr11:124005701C>T	ENST00000456829.2	+	12	1570	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	VWA5A_ENST00000392748.1_Missense_Mutation_p.T440I|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	440	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.							p.T440I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCAGGGGGCACCTCAGAATTT	0.507																																						uc001pzu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1318-1320)ACC>ATC		BCSC-1 isoform 1		C	ILE/THR,ILE/THR	0,4402		0,0,2201	87.0	78.0	81.0		1319,1319	2.8	0.0	11		81	4,8594	3.7+/-12.6	0,4,4295	no	missense,missense	VWA5A	NM_001130142.1,NM_014622.4	89,89	0,4,6496	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging	440/787,440/787	124005701	4,12996	2201	4299	6500	SO:0001583	missense	4013							g.chr11:124005701C>T	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1319C>T	11.37:g.124005701C>T	ENSP00000407726:p.Thr440Ile					VWA5A_uc001pzt.2_Missense_Mutation_p.T440I	p.T440I	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			12	1528	+			440			VWFA.		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1319C>T	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378651	0.24944	0.0	4.65E-4	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.08370	3.1;3.1	5.86	2.83	0.33086	von Willebrand factor, type A (3);	0.283479	0.39759	N	0.001278	T	0.16981	0.0408	L	0.54323	1.7	0.09310	N	1	D	0.60575	0.988	D	0.69654	0.965	T	0.07673	-1.0760	10	0.21014	T	0.42	-2.6261	7.3002	0.26415	0.0:0.7026:0.1404:0.157	.	440	O00534	VMA5A_HUMAN	I	440	ENSP00000407726:T440I;ENSP00000376504:T440I	ENSP00000376504:T440I	T	+	2	0	VWA5A	123510911	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.560000	0.23500	0.817000	0.34445	0.655000	0.94253	ACC		PASS	0.507	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		13	75	13	75	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6700653	6700653	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:6700653C>G	ENST00000357008.2	-	22	3482	c.3319G>C	c.(3319-3321)Gag>Cag	p.E1107Q	CHD4_ENST00000544040.1_Missense_Mutation_p.E1100Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E1104Q|CHD4_ENST00000309577.6_Missense_Mutation_p.E1107Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1107	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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.E1107Q(2)		central_nervous_system(2)	2						TCAATGGCCTCTTGCCGCATG	0.443																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(3319-3321)GAG>CAG		chromodomain helicase DNA binding protein 4							171.0	144.0	153.0					12																	6700653		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.chr12:6700653C>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.3319G>C	12.37:g.6700653C>G	ENSP00000349508:p.Glu1107Gln					CHD4_uc001qpn.2_Missense_Mutation_p.E1100Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1104Q	p.E1107Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			22	3483	-			1107			Helicase C-terminal.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3319G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769777	0.90020	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.15	5.15	0.70609	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	L	0.28458	0.855	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.989	D;D;D	0.81914	0.995;0.987;0.979	D	0.84177	0.0437	10	0.54805	T	0.06	.	18.6317	0.91361	0.0:1.0:0.0:0.0	.	1107;1107;1100	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1104;1100;1107;1107;1081	ENSP00000440392:E1104Q;ENSP00000440542:E1100Q;ENSP00000312419:E1107Q;ENSP00000349508:E1107Q	ENSP00000312419:E1107Q	E	-	1	0	CHD4	6570914	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.685000	0.84117	2.409000	0.81822	0.655000	0.94253	GAG		PASS	0.443	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		14	112	14	112	---	---	---	---
PRB4	5545	broad.mit.edu	37	12	11461806	11461806	+	Silent	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:11461806T>C	ENST00000535904.1	-	3	144	c.111A>G	c.(109-111)gaA>gaG	p.E37E	PRB4_ENST00000445719.2_Silent_p.E37E|PRB4_ENST00000279575.1_Silent_p.E37E			P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	37	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			E -> Q (in Ref. 2; CAA30543 and 7; CAA30542). {ECO:0000305}.|LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence). {ECO:0000305}.		extracellular region (GO:0005576)		p.E37E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGCGTCGTCCTTCTGGCTTTC	0.532										HNSCC(22;0.051)																												uc001qzf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(109-111)GAA>GAG		proline-rich protein BstNI subfamily 4							188.0	200.0	196.0					12																	11461806		2196	4292	6488	SO:0001819	synonymous_variant	5545					extracellular region		g.chr12:11461806T>C		CCDS8641.1, CCDS58208.1	12p13.2	2012-10-02			ENSG00000230657	ENSG00000230657			9340	protein-coding gene	gene with protein product		180990					Standard	NM_002723		Approved		uc001qzt.4	P10163	OTTHUMG00000169116	ENST00000535904.1:c.111A>G	12.37:g.11461806T>C		HNSCC(22;0.051)				PRB4_uc001qzt.2_Silent_p.E37E	p.E37E	NM_002723	NP_002714	P10163	PRB4_HUMAN			3	145	-			37	LISGKPEGR -> IIPPKPPG (in Ref. 5; AA sequence).|E -> Q (in Ref. 2; CAA30543 and 7; CAA30542).		9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.|1.		A1L439|O00600|P02813|P10161|P10162|P81489	Silent	SNP	ENST00000535904.1	37	c.111A>G	CCDS8641.1																																																																																				PASS	0.532	PRB4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402308.1	NM_002723		45	416	45	416	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	22068692	22068692	+	Silent	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:22068692A>T	ENST00000261201.4	-	5	725	c.726T>A	c.(724-726)ccT>ccA	p.P242P	ABCC9_ENST00000345162.2_Silent_p.P242P|ABCC9_ENST00000261200.4_Silent_p.P242P	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	242					defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.P242P(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TCAGATCAATAGGCTTTTTGT	0.368																																						uc001rfi.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(724-726)CCT>CCA		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						146.0	134.0	138.0					12																	22068692		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22068692A>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.726T>A	12.37:g.22068692A>T						ABCC9_uc001rfh.2_Silent_p.P242P|ABCC9_uc001rfj.1_Silent_p.P242P	p.P242P	NM_005691	NP_005682	O60706	ABCC9_HUMAN			5	746	-			242			Cytoplasmic (Potential).		O60707	Silent	SNP	ENST00000261201.4	37	c.726T>A	CCDS8694.1																																																																																				PASS	0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		9	110	9	110	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26636760	26636760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:26636760G>T	ENST00000381340.3	-	42	6299	c.5883C>A	c.(5881-5883)tgC>tgA	p.C1961*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1961					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.C1961*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TTCCACAAATGCAGTCCAGAA	0.438																																						uc001rhg.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(5881-5883)TGC>TGA		inositol 1,4,5-triphosphate receptor, type 2							178.0	170.0	172.0					12																	26636760		1865	4104	5969	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26636760G>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.5883C>A	12.37:g.26636760G>T	ENSP00000370744:p.Cys1961*					ITPR2_uc009zjg.1_Nonsense_Mutation_p.C112*	p.C1961*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			42	6300	-	Colorectal(261;0.0847)		1961			Cytoplasmic (Potential).		O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.5883C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	g	49	15.806128	0.99845	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.17	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	9.9425	0.41589	0.2773:0.0:0.7227:0.0	.	.	.	.	X	1961	.	ENSP00000370744:C1961X	C	-	3	2	ITPR2	26528027	0.992000	0.36948	1.000000	0.80357	0.986000	0.74619	0.284000	0.18864	0.730000	0.32425	0.586000	0.80456	TGC		PASS	0.438	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		5	230	5	230	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53448212	53448212	+	Missense_Mutation	SNP	G	G	C	rs377494431		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:53448212G>C	ENST00000314250.6	+	7	799	c.509G>C	c.(508-510)cGg>cCg	p.R170P	RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.R170P|TENC1_ENST00000451358.1_Missense_Mutation_p.R170P|TENC1_ENST00000314276.3_Missense_Mutation_p.R180P|TENC1_ENST00000379902.3_Missense_Mutation_p.R46P|TENC1_ENST00000549700.1_Missense_Mutation_p.R170P|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000546602.1_Missense_Mutation_p.R170P	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	170	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R170P(2)|p.R180P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TCCAAGCACCGGGACAAGTAC	0.672																																						uc001sbp.2																			3	Substitution - Missense(3)	p.R170P(1)	lung(2)|ovary(1)	ovary(1)|pancreas(1)	2						c.(508-510)CGG>CCG		tensin like C1 domain containing phosphatase							11.0	12.0	12.0					12																	53448212		2182	4263	6445	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53448212G>C	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.509G>C	12.37:g.53448212G>C	ENSP00000319684:p.Arg170Pro					uc001sbk.1_RNA|TENC1_uc001sbl.2_Missense_Mutation_p.R46P|TENC1_uc001sbm.2_Missense_Mutation_p.R180P|TENC1_uc001sbn.2_Missense_Mutation_p.R180P|TENC1_uc001sbo.1_Missense_Mutation_p.R170P	p.R170P	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			7	644	+			170			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.509G>C	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389546	0.61956	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	5.04	3.18	0.36537	Phosphatase tensin type (1);	0.234802	0.38217	N	0.001771	D	0.94902	0.8352	N	0.04297	-0.235	0.35398	D	0.79137	D;B;D;D	0.63046	0.987;0.012;0.992;0.971	P;B;P;B	0.57548	0.592;0.041;0.823;0.388	D	0.93933	0.7216	10	0.34782	T	0.22	-0.6728	6.2593	0.20891	0.2903:0.0:0.7097:0.0	.	170;170;180;147	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	P	46;180;170;170;170;170;170;170	ENSP00000369232:R46P;ENSP00000319756:R180P;ENSP00000319684:R170P;ENSP00000393362:R170P;ENSP00000449363:R170P;ENSP00000447021:R170P;ENSP00000449361:R170P	ENSP00000319684:R170P	R	+	2	0	TENC1	51734479	0.999000	0.42202	0.954000	0.39281	0.978000	0.69477	3.390000	0.52523	1.269000	0.44280	0.561000	0.74099	CGG		PASS	0.672	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		4	34	4	34	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53453230	53453230	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:53453230G>T	ENST00000314250.6	+	18	2095	c.1805G>T	c.(1804-1806)tGc>tTc	p.C602F	TENC1_ENST00000552570.1_Missense_Mutation_p.C602F|TENC1_ENST00000451358.1_Missense_Mutation_p.C602F|TENC1_ENST00000314276.3_Missense_Mutation_p.C612F|TENC1_ENST00000379902.3_Missense_Mutation_p.C478F|TENC1_ENST00000549700.1_Missense_Mutation_p.C602F|TENC1_ENST00000546602.1_Missense_Mutation_p.C602F	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	602					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.C612F(1)|p.C602F(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CGGGAGCCCTGCGGGGTTCCC	0.706																																						uc001sbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1804-1806)TGC>TTC		tensin like C1 domain containing phosphatase							4.0	5.0	5.0					12																	53453230		1829	3907	5736	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53453230G>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1805G>T	12.37:g.53453230G>T	ENSP00000319684:p.Cys602Phe					TENC1_uc001sbl.2_Missense_Mutation_p.C478F|TENC1_uc001sbn.2_Missense_Mutation_p.C612F|TENC1_uc001sbq.2_Missense_Mutation_p.C97F|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.C97F|TENC1_uc001sbs.2_5'Flank	p.C602F	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			18	1940	+			602					A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1805G>T	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457977	0.43634	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.94330	-3.39;-3.4;-3.39;-3.4;-3.39;-3.39;-3.39	4.08	3.18	0.36537	.	0.313953	0.31427	N	0.007666	D	0.90287	0.6962	N	0.08118	0	0.40515	D	0.980773	B;B;B;D	0.69078	0.0;0.0;0.0;0.997	B;B;B;D	0.80764	0.001;0.001;0.0;0.994	D	0.86021	0.1507	10	0.13470	T	0.59	.	11.1346	0.48367	0.0:0.0:0.814:0.186	.	602;602;602;612	Q63HR2-6;Q63HR2-2;Q63HR2;Q63HR2-4	.;.;TENC1_HUMAN;.	F	478;612;602;602;602;602;602;602	ENSP00000369232:C478F;ENSP00000319756:C612F;ENSP00000319684:C602F;ENSP00000393362:C602F;ENSP00000449363:C602F;ENSP00000447021:C602F;ENSP00000449361:C602F	ENSP00000319684:C602F	C	+	2	0	TENC1	51739497	0.065000	0.20965	0.942000	0.38095	0.625000	0.37756	1.567000	0.36407	1.050000	0.40346	0.462000	0.41574	TGC		PASS	0.706	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		6	11	6	11	---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53454751	53454751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:53454751C>T	ENST00000314250.6	+	20	3351	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	TENC1_ENST00000552570.1_Nonsense_Mutation_p.R1021*|TENC1_ENST00000451358.1_Nonsense_Mutation_p.R1011*|TENC1_ENST00000314276.3_Nonsense_Mutation_p.R1031*|TENC1_ENST00000379902.3_Nonsense_Mutation_p.R897*|TENC1_ENST00000549700.1_Nonsense_Mutation_p.R956*|TENC1_ENST00000546602.1_Nonsense_Mutation_p.R924*	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1021	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R1021*(1)|p.R1031*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAAGGCCCTCGAGGCCCCCC	0.687																																						uc001sbp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3061-3063)CGA>TGA		tensin like C1 domain containing phosphatase							16.0	17.0	17.0					12																	53454751		2200	4293	6493	SO:0001587	stop_gained	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53454751C>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3061C>T	12.37:g.53454751C>T	ENSP00000319684:p.Arg1021*					TENC1_uc001sbl.2_Nonsense_Mutation_p.R897*|TENC1_uc001sbn.2_Nonsense_Mutation_p.R1031*|TENC1_uc001sbq.2_Nonsense_Mutation_p.R419*|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Nonsense_Mutation_p.R516*|TENC1_uc001sbs.2_5'Flank	p.R1021*	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			20	3196	+			1021			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Nonsense_Mutation	SNP	ENST00000314250.6	37	c.3061C>T	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	43	9.921826	0.99297	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	.	.	.	4.55	4.55	0.56014	.	0.709097	0.13060	N	0.416931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9789	13.0164	0.58759	0.0:1.0:0.0:0.0	.	.	.	.	X	897;1031;1021;1011;924;1021;956	.	ENSP00000319684:R1021X	R	+	1	2	TENC1	51741018	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	0.268000	0.18571	2.537000	0.85549	0.561000	0.74099	CGA		PASS	0.687	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		9	15	9	15	---	---	---	---
HOXC5	3222	broad.mit.edu	37	12	54427002	54427002	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:54427002G>A	ENST00000312492.2	+	1	366	c.96G>A	c.(94-96)gaG>gaA	p.E32E	RP11-834C11.12_ENST00000513209.1_Intron|MIR615_ENST00000384839.1_RNA|HOXC4_ENST00000303406.4_Intron|RP11-834C11.14_ENST00000512206.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	32					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E32E(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCCTCAGAGGTGCAGGCAT	0.542																																						uc001sew.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(94-96)GAG>GAA		homeobox C5							80.0	76.0	77.0					12																	54427002		2203	4300	6503	SO:0001819	synonymous_variant	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54427002G>A		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.96G>A	12.37:g.54427002G>A						HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	p.E32E	NM_018953	NP_061826	Q00444	HXC5_HUMAN			1	171	+			32						Silent	SNP	ENST00000312492.2	37	c.96G>A	CCDS8872.1																																																																																				PASS	0.542	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			49	58	49	58	---	---	---	---
IFNG	3458	broad.mit.edu	37	12	68551865	68551865	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:68551865C>G	ENST00000229135.3	-	3	325	c.194G>C	c.(193-195)aGa>aCa	p.R65T	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	65					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)	p.R65T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	CATTATTTTTCTGTCACTCTC	0.373																																						uc001stw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)AGA>ACA		interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						82.0	82.0	82.0					12																	68551865		2202	4300	6502	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68551865C>G		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.194G>C	12.37:g.68551865C>G	ENSP00000229135:p.Arg65Thr						p.R65T	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	3	320	-			65					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.194G>C	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480337	0.26598	.	.	ENSG00000111537	ENST00000229135	T	0.43688	0.94	5.38	-3.56	0.04626	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.805869	0.11685	N	0.539455	T	0.15305	0.0369	N	0.11927	0.2	0.22171	N	0.999318	B	0.29862	0.259	B	0.24701	0.055	T	0.16958	-1.0385	9	.	.	.	-40.0847	0.459	0.00513	0.2697:0.2799:0.1387:0.3117	.	65	P01579	IFNG_HUMAN	T	65	ENSP00000229135:R65T	.	R	-	2	0	IFNG	66838132	0.835000	0.29415	0.516000	0.27786	0.574000	0.36063	-0.600000	0.05693	-0.856000	0.04120	-0.345000	0.07892	AGA		PASS	0.373	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1			12	12	12	12	---	---	---	---
UBE2N	7334	broad.mit.edu	37	12	93804845	93804845	+	Silent	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:93804845A>G	ENST00000318066.2	-	2	638	c.261T>C	c.(259-261)tgT>tgC	p.C87C	UBE2N_ENST00000552442.1_Silent_p.C87C|UBE2N_ENST00000549833.1_Silent_p.C24C|UBE2N_ENST00000550657.1_Silent_p.C87C	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	87					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)	p.C87C(1)		endometrium(3)|liver(2)|lung(5)	10						AAATATCTAAACATATTCTTC	0.323								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)	uc001tcp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(259-261)TGT>TGC	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2N							78.0	79.0	79.0					12																	93804845		2203	4300	6503	SO:0001819	synonymous_variant	7334				DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity	g.chr12:93804845A>G	D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	12492	protein-coding gene	gene with protein product		603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.261T>C	12.37:g.93804845A>G							p.C87C	NM_003348	NP_003339	P61088	UBE2N_HUMAN			2	627	-			87	C->A: Loss of polyubiquitination of PCNA. Impairs interaction with SHPRH.			Glycyl thioester intermediate.	Q16781|Q53Y81	Silent	SNP	ENST00000318066.2	37	c.261T>C	CCDS31875.1																																																																																				PASS	0.323	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407710.1	NM_003348		15	41	15	41	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94697543	94697543	+	Silent	SNP	T	T	A	rs371552811		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:94697543T>A	ENST00000258526.4	+	29	4647	c.4398T>A	c.(4396-4398)acT>acA	p.T1466T	PLXNC1_ENST00000545312.1_Silent_p.T205T|PLXNC1_ENST00000547057.1_Silent_p.T513T	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1466					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.T1466T(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						AAGCACCAACTAATAAGCTTC	0.323																																						uc001tdc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4396-4398)ACT>ACA		plexin C1 precursor							43.0	42.0	42.0					12																	94697543		2203	4297	6500	SO:0001819	synonymous_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94697543T>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.4398T>A	12.37:g.94697543T>A						PLXNC1_uc010sut.1_Silent_p.T513T|PLXNC1_uc009zsv.2_Silent_p.T205T	p.T1466T	NM_005761	NP_005752	O60486	PLXC1_HUMAN			29	4647	+			1466			Cytoplasmic (Potential).		Q59H25	Silent	SNP	ENST00000258526.4	37	c.4398T>A	CCDS9049.1																																																																																				PASS	0.323	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			3	28	3	28	---	---	---	---
FGD6	55785	broad.mit.edu	37	12	95602706	95602706	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:95602706T>C	ENST00000343958.4	-	2	2577	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	FGD6_ENST00000549499.1_Missense_Mutation_p.D785G|FGD6_ENST00000550368.1_5'UTR|FGD6_ENST00000546711.1_Missense_Mutation_p.D785G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	785					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.D785G(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TGCATCAGCGTCCTCCATGCT	0.483																																						uc001tdp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2353-2355)GAC>GGC		FYVE, RhoGEF and PH domain containing 6							158.0	139.0	145.0					12																	95602706		2203	4300	6503	SO:0001583	missense	55785				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:95602706T>C	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.2354A>G	12.37:g.95602706T>C	ENSP00000344446:p.Asp785Gly					FGD6_uc009zsx.2_Intron	p.D785G	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN			2	2578	-			785					Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	37	c.2354A>G	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339841	0.41398	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.71934	-0.5;-0.61;-0.55	5.77	4.64	0.57946	.	0.123535	0.36815	N	0.002393	T	0.66771	0.2823	M	0.64997	1.995	0.43628	D	0.996014	P	0.52463	0.953	B	0.42462	0.388	T	0.67248	-0.5718	10	0.48119	T	0.1	-13.9523	10.1189	0.42607	0.0:0.0748:0.0:0.9252	.	785	Q6ZV73	FGD6_HUMAN	G	785	ENSP00000344446:D785G;ENSP00000450342:D785G;ENSP00000449005:D785G	ENSP00000344446:D785G	D	-	2	0	FGD6	94126837	1.000000	0.71417	0.912000	0.35992	0.763000	0.43281	3.536000	0.53582	1.030000	0.39839	0.459000	0.35465	GAC		PASS	0.483	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351		12	104	12	104	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95656769	95656769	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:95656769G>C	ENST00000436874.1	+	4	451	c.346G>C	c.(346-348)Gat>Cat	p.D116H	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.D68H	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	116					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.D116H(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TGAGCTACTTGATCCCAGTAT	0.458																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(346-348)GAT>CAT		vezatin, adherens junctions transmembrane							169.0	167.0	168.0					12																	95656769		1931	4146	6077	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95656769G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.346G>C	12.37:g.95656769G>C	ENSP00000410083:p.Asp116His					VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Missense_Mutation_p.D68H|VEZT_uc001tdt.2_Missense_Mutation_p.D68H|VEZT_uc009zsz.1_Missense_Mutation_p.D116H|VEZT_uc001tdv.2_Missense_Mutation_p.D85H|VEZT_uc001tdw.1_Missense_Mutation_p.D68H|VEZT_uc009zta.1_Missense_Mutation_p.D68H	p.D116H	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			4	451	+			116					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.346G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506392	0.85282	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000551472;ENST00000552821;ENST00000551311;ENST00000546445;ENST00000397792;ENST00000397796	T;T;T;T;T;T	0.69435	1.74;-0.04;0.93;-0.4;-0.07;0.93	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.82834	0.5123	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.83665	0.0163	10	0.72032	D	0.01	-0.6998	19.9317	0.97122	0.0:0.0:1.0:0.0	.	116;116;68;68	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	H	116;86;68;135;107;68;38;68;116	ENSP00000410083:D116H;ENSP00000449591:D86H;ENSP00000261219:D68H;ENSP00000449701:D135H;ENSP00000447151:D38H;ENSP00000380894:D68H	ENSP00000261219:D68H	D	+	1	0	VEZT	94180900	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	9.476000	0.97823	2.716000	0.92895	0.591000	0.81541	GAT		PASS	0.458	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		5	186	5	186	---	---	---	---
CFAP54	144535	broad.mit.edu	37	12	97093757	97093757	+	Silent	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:97093757C>A	ENST00000524981.4	+	46	6383	c.6360C>A	c.(6358-6360)gtC>gtA	p.V2120V				Q96N23	CL055_HUMAN		0								p.V545V(1)									AGATAGAAGTCCTTATAGATT	0.313																																						uc001tet.1																			1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(1)	7						c.(1633-1635)GTC>GTA		hypothetical protein LOC374467							61.0	66.0	64.0					12																	97093757		2203	4299	6502	SO:0001819	synonymous_variant	374467							g.chr12:97093757C>A																												ENST00000524981.4:c.6360C>A	12.37:g.97093757C>A							p.V545V	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			13	1713	+			545						Silent	SNP	ENST00000524981.4	37	c.1635C>A																																																																																					PASS	0.313	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			21	49	21	49	---	---	---	---
ISCU	23479	broad.mit.edu	37	12	108960978	108960978	+	Silent	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:108960978T>C	ENST00000311893.9	+	4	374	c.352T>C	c.(352-354)Ttg>Ctg	p.L118L	ISCU_ENST00000431221.2_Silent_p.L118L|ISCU_ENST00000547005.1_Silent_p.L118L|ISCU_ENST00000392807.4_Silent_p.L93L|ISCU_ENST00000535729.1_Silent_p.L118L|ISCU_ENST00000539593.1_Silent_p.L118L|ISCU_ENST00000338291.4_Silent_p.L93L	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	118					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)	p.L93L(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GGAGGAAGCCTTGACTATCAA	0.498																																						uc010sxc.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)TTG>CTG		iron-sulfur cluster assembly enzyme isoform							142.0	124.0	130.0					12																	108960978		2203	4300	6503	SO:0001819	synonymous_variant	23479				iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	g.chr12:108960978T>C	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.352T>C	12.37:g.108960978T>C						ISCU_uc010sxa.1_Silent_p.L118L|ISCU_uc010sxb.1_Silent_p.L118L|ISCU_uc001tnc.3_Silent_p.L93L|ISCU_uc009zuy.2_Silent_p.L93L|ISCU_uc010sxd.1_Silent_p.L118L	p.L118L	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN			4	457	+			118					Q6P713|Q99617|Q9H1K2	Silent	SNP	ENST00000311893.9	37	c.352T>C	CCDS44966.1																																																																																				PASS	0.498	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		5	152	5	152	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124311350	124311350	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:124311350C>T	ENST00000409039.3	+	24	3967	c.3942C>T	c.(3940-3942)ggC>ggT	p.G1314G		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1314	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G1314G(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTCCGTGGCTTATCAGTGA	0.458																																						uc001uft.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3940-3942)GGC>GGT		dynein, axonemal, heavy chain 10							122.0	119.0	120.0					12																	124311350		1891	4123	6014	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124311350C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3942C>T	12.37:g.124311350C>T							p.G1314G	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	24	3967	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1314			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.3942C>T	CCDS9255.2																																																																																				PASS	0.458	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			60	83	60	83	---	---	---	---
GLT1D1	144423	broad.mit.edu	37	12	129431905	129431905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:129431905G>T	ENST00000442111.2	+	10	770	c.682G>T	c.(682-684)Gga>Tga	p.G228*	GLT1D1_ENST00000281703.6_Nonsense_Mutation_p.G148*|GLT1D1_ENST00000542193.1_Nonsense_Mutation_p.G145*|GLT1D1_ENST00000537468.1_Nonsense_Mutation_p.G233*			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	228					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G148*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		ACGATTGATTGGAGAGATGCC	0.512																																						uc010tbh.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(697-699)GGA>TGA		glycosyltransferase 1 domain containing 1							167.0	135.0	146.0					12																	129431905		2203	4300	6503	SO:0001587	stop_gained	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129431905G>T		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.682G>T	12.37:g.129431905G>T	ENSP00000394692:p.Gly228*					GLT1D1_uc001uhx.1_Nonsense_Mutation_p.G148*|GLT1D1_uc001uhy.1_RNA	p.G233*	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	11	706	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		228					Q86XG8	Nonsense_Mutation	SNP	ENST00000442111.2	37	c.697G>T		.	.	.	.	.	.	.	.	.	.	G	16.60	3.169260	0.57584	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	.	.	.	5.66	-2.2	0.06994	.	1.355760	0.04346	N	0.354888	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-3.2049	8.1305	0.31024	0.3309:0.4711:0.198:0.0	.	.	.	.	X	228;148;233;145	.	ENSP00000281703:G148X	G	+	1	0	GLT1D1	127997858	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.615000	0.05597	-0.845000	0.04179	-0.140000	0.14226	GGA		PASS	0.512	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		9	65	9	65	---	---	---	---
FZD10	11211	broad.mit.edu	37	12	130649114	130649114	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr12:130649114A>T	ENST00000229030.4	+	1	2111	c.1627A>T	c.(1627-1629)Agc>Tgc	p.S543C	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	543					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S543C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AAAGAAGAAGAGCCGGAGAAA	0.552																																						uc001uii.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|central_nervous_system(1)	5						c.(1627-1629)AGC>TGC		frizzled 10 precursor							33.0	38.0	36.0					12																	130649114		2202	4300	6502	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130649114A>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1627A>T	12.37:g.130649114A>T	ENSP00000229030:p.Ser543Cys					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.S543C	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	2083	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		543			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.1627A>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706861	0.30232	.	.	ENSG00000111432	ENST00000229030	T	0.77877	-1.13	4.87	-1.72	0.08107	.	0.294143	0.30093	U	0.010430	T	0.62258	0.2413	N	0.19112	0.55	0.34544	D	0.710583	P	0.47034	0.889	B	0.43916	0.436	T	0.66097	-0.6008	10	0.59425	D	0.04	.	9.6427	0.39848	0.6358:0.0:0.3642:0.0	.	543	Q9ULW2	FZD10_HUMAN	C	543	ENSP00000229030:S543C	ENSP00000229030:S543C	S	+	1	0	FZD10	129215067	1.000000	0.71417	0.005000	0.12908	0.662000	0.39071	4.088000	0.57678	-0.637000	0.05516	-0.441000	0.05720	AGC		PASS	0.552	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				28	42	28	42	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19751242	19751242	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr13:19751242G>C	ENST00000400113.3	-	4	985	c.881C>G	c.(880-882)gCc>gGc	p.A294G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	294					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.A294G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCGAAGCAGGCATTGGTGAT	0.612																																						uc009zzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(880-882)GCC>GGC		tubulin, alpha 3c							161.0	140.0	147.0					13																	19751242		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751242G>C	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.881C>G	13.37:g.19751242G>C	ENSP00000382982:p.Ala294Gly						p.A294G	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	930	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	294					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.881C>G	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.740	1.164624	0.21538	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.84442	-1.85	1.19	1.19	0.21007	.	0.000000	0.46758	U	0.000267	D	0.86539	0.5957	.	.	.	0.43527	D	0.995808	.	.	.	.	.	.	D	0.85825	0.1388	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	G	294	ENSP00000382982:A294G	ENSP00000354037:A294G	A	-	2	0	TUBA3C	18649242	0.972000	0.33761	1.000000	0.80357	0.659000	0.38960	4.966000	0.63715	0.972000	0.38314	0.175000	0.17021	GCC		PASS	0.612	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		7	178	7	178	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29599515	29599515	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr13:29599515C>A	ENST00000431530.3	+	1	768	c.710C>A	c.(709-711)gCa>gAa	p.A237E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	227						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.A237E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGTCCCGGCAGCTTTCCCT	0.582																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GCA>GAA		hypothetical protein LOC23281 isoform a							40.0	41.0	41.0					13																	29599515		2199	4300	6499	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599515C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.710C>A	13.37:g.29599515C>A	ENSP00000392057:p.Ala237Glu						p.A237E	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	768	+			227					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.710C>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	11.43	1.637777	0.29157	.	.	ENSG00000132938	ENST00000431530	T	0.12255	2.7	5.25	2.49	0.30216	.	1.476590	0.04060	N	0.306166	T	0.13243	0.0321	L	0.44542	1.39	0.09310	N	1	B	0.30439	0.279	B	0.31101	0.124	T	0.31081	-0.9956	9	.	.	.	.	3.8643	0.09010	0.1657:0.4947:0.0:0.3396	.	227	Q5JR59	MTUS2_HUMAN	E	237	ENSP00000392057:A237E	.	A	+	2	0	MTUS2	28497515	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.173000	0.16724	0.192000	0.20272	0.561000	0.74099	GCA		PASS	0.582	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		24	38	24	38	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35769999	35769999	+	Splice_Site	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr13:35769999A>G	ENST00000400445.3	+	31	5461		c.e31-1		NBEA_ENST00000379939.2_Splice_Site|NBEA_ENST00000540320.1_Splice_Site|NBEA_ENST00000310336.4_Splice_Site	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin						protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.?(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTCATTACAGAAACACCTG	0.308																																						uc001uvb.2																			1	Unknown(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.e31-2		neurobeachin							38.0	39.0	38.0					13																	35769999		1782	4040	5822	SO:0001630	splice_region_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35769999A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4928-1A>G	13.37:g.35769999A>G						NBEA_uc010abi.2_Splice_Site_p.E299_splice	p.E1643_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5134	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)						B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Splice_Site	SNP	ENST00000400445.3	37	c.4928_splice	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949508	0.73787	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2736	0.82632	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NBEA	34667999	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.036000	0.70948	2.247000	0.74100	0.477000	0.44152	.		PASS	0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	Intron	24	47	24	47	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77743836	77743836	+	Silent	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr13:77743836T>C	ENST00000544440.2	-	39	5711	c.5694A>G	c.(5692-5694)ccA>ccG	p.P1898P	MYCBP2_ENST00000357337.6_Silent_p.P1898P|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.P1936P					MYC binding protein 2, E3 ubiquitin protein ligase									p.P1898P(2)|p.P1936P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAGCAGTTCTGGAATGTCAT	0.383																																						uc001vkf.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(5692-5694)CCA>CCG		MYC binding protein 2							67.0	70.0	69.0					13																	77743836		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77743836T>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.5694A>G	13.37:g.77743836T>C						MYCBP2_uc010aev.2_Silent_p.P1302P	p.P1898P	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	40	5785	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1898						Silent	SNP	ENST00000544440.2	37	c.5694A>G																																																																																					PASS	0.383	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		33	35	33	35	---	---	---	---
MYO16	23026	broad.mit.edu	37	13	109365035	109365035	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr13:109365035G>T	ENST00000357550.2	+	2	294	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	MYO16_ENST00000356711.2_Missense_Mutation_p.D85Y|MYO16_ENST00000251041.5_Missense_Mutation_p.D85Y	NM_001198950.1	NP_001185879.1			myosin XVI									p.D85Y(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GGAGGGGGCAGACCCCCACAC	0.567																																						uc001vqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(253-255)GAC>TAC		myosin heavy chain Myr 8							122.0	102.0	109.0					13																	109365035		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109365035G>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.253G>T	13.37:g.109365035G>T	ENSP00000350160:p.Asp85Tyr					MYO16_uc010agk.1_Missense_Mutation_p.D107Y	p.D85Y	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		3	379	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		85			ANK 1.			Missense_Mutation	SNP	ENST00000357550.2	37	c.253G>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967386	0.53507	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.59224	0.28;0.28;0.28	5.28	5.28	0.74379	Ankyrin repeat-containing domain (4);	0.000000	0.38164	U	0.001794	T	0.82079	0.4959	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86892	0.2049	9	.	.	.	.	14.4228	0.67196	0.0:0.0:1.0:0.0	.	85;85	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	Y	85	ENSP00000349145:D85Y;ENSP00000350160:D85Y;ENSP00000251041:D85Y	.	D	+	1	0	MYO16	108163036	1.000000	0.71417	0.204000	0.23530	0.344000	0.29017	6.358000	0.73055	2.473000	0.83533	0.650000	0.86243	GAC		PASS	0.567	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		43	76	43	76	---	---	---	---
POTEG	404785	broad.mit.edu	37	14	19553578	19553578	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:19553578G>A	ENST00000409832.3	+	1	214	c.162G>A	c.(160-162)atG>atA	p.M54I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	54								p.M54I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ATTCTGCTATGAAGACACTCA	0.617																																						uc001vuz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(160-162)ATG>ATA		POTE ankyrin domain family, member G							107.0	148.0	134.0					14																	19553578		2198	4286	6484	SO:0001583	missense	404785							g.chr14:19553578G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.162G>A	14.37:g.19553578G>A	ENSP00000386971:p.Met54Ile					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.M54I	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	214	+			54					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.162G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.665	0.491214	0.12702	.	.	ENSG00000222036	ENST00000409832	T	0.32515	1.45	.	.	.	.	.	.	.	.	T	0.24160	0.0585	L	0.43152	1.355	0.09310	N	1	P	0.40398	0.716	B	0.39706	0.307	T	0.13495	-1.0507	7	0.56958	D	0.05	.	.	.	.	.	54	Q6S5H5	POTEG_HUMAN	I	54	ENSP00000386971:M54I	ENSP00000386971:M54I	M	+	3	0	POTEG	18623578	0.001000	0.12720	0.007000	0.13788	0.007000	0.05969	-0.529000	0.06186	0.162000	0.19483	0.165000	0.16767	ATG		PASS	0.617	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		52	561	52	561	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249408	20249408	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:20249408G>A	ENST00000315957.4	+	1	1008	c.927G>A	c.(925-927)ttG>ttA	p.L309L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L309L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATATATTTTGTGTGAAGAGA	0.343																																						uc010tku.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(925-927)TTG>TTA		olfactory receptor, family 4, subfamily M,							40.0	42.0	42.0					14																	20249408		2191	4293	6484	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249408G>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.927G>A	14.37:g.20249408G>A							p.L309L	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	927	+	all_cancers(95;0.00108)		309			Cytoplasmic (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.927G>A	CCDS32021.1																																																																																				PASS	0.343	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			9	15	9	15	---	---	---	---
MMP14	4323	broad.mit.edu	37	14	23313949	23313949	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:23313949T>C	ENST00000311852.6	+	8	1522	c.1261T>C	c.(1261-1263)Tgg>Cgg	p.W421R	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	421					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W421R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TGCTCTCTTCTGGATGCCCAA	0.547																																						uc001whc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)TGG>CGG		matrix metalloproteinase 14 preproprotein							121.0	125.0	124.0					14																	23313949		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23313949T>C		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1261T>C	14.37:g.23313949T>C	ENSP00000308208:p.Trp421Arg						p.W421R	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	8	1495	+	all_cancers(95;9.47e-05)		421			Hemopexin-like 3.|Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.1261T>C	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.780701	0.70222	.	.	ENSG00000157227	ENST00000311852	T	0.09163	3.01	5.42	4.25	0.50352	Hemopexin/matrixin (2);	0.248008	0.44097	D	0.000492	T	0.35740	0.0942	M	0.87180	2.865	0.50632	D	0.999889	D	0.89917	1.0	D	0.91635	0.999	T	0.16129	-1.0413	10	0.62326	D	0.03	.	10.7324	0.46104	0.1431:0.0:0.0:0.8569	.	421	P50281	MMP14_HUMAN	R	421	ENSP00000308208:W421R	ENSP00000308208:W421R	W	+	1	0	MMP14	22383789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.178000	0.71968	0.856000	0.35383	0.455000	0.32223	TGG		PASS	0.547	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		6	148	6	148	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855298	23855298	+	Missense_Mutation	SNP	C	C	A	rs200884672		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:23855298C>A	ENST00000356287.3	-	33	5031	c.5002G>T	c.(5002-5004)Gac>Tac	p.D1668Y	MYH6_ENST00000405093.3_Missense_Mutation_p.D1668Y|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1668					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.D1668Y(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTCAGGTCGTCGTTGGCA	0.642																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(5002-5004)GAC>TAC		myosin heavy chain 6							81.0	65.0	71.0					14																	23855298		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855298C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5002G>T	14.37:g.23855298C>A	ENSP00000348634:p.Asp1668Tyr						p.D1668Y	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	34	5069	-	all_cancers(95;2.54e-05)		1668			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5002G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.129276	0.77549	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.84370	-1.84;-1.84	4.05	4.05	0.47172	Myosin tail (1);	.	.	.	.	D	0.94391	0.8196	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96256	0.9187	9	0.87932	D	0	.	16.5823	0.84717	0.0:1.0:0.0:0.0	.	1668	P13533	MYH6_HUMAN	Y	1668	ENSP00000386041:D1668Y;ENSP00000348634:D1668Y	ENSP00000348634:D1668Y	D	-	1	0	MYH6	22925138	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	7.701000	0.84566	1.966000	0.57179	0.561000	0.74099	GAC		PASS	0.642	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			27	41	27	41	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60193847	60193847	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:60193847G>T	ENST00000267484.5	-	3	1890	c.1555C>A	c.(1555-1557)Ccg>Acg	p.P519T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	519					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P519T(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAGGAACCCGGCTCGGCCAGG	0.721																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1555-1557)CCG>ACG		reticulon 1 isoform A							11.0	14.0	13.0					14																	60193847		2196	4274	6470	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193847G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1555C>A	14.37:g.60193847G>T	ENSP00000267484:p.Pro519Thr					RTN1_uc001xem.1_Missense_Mutation_p.P99T	p.P519T	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1764	-			519					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1555C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.249803	0.22880	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.21031	2.03	5.11	4.1	0.47936	.	1.274970	0.05270	N	0.517459	T	0.14787	0.0357	L	0.36672	1.1	0.09310	N	1	B	0.26318	0.146	B	0.19148	0.024	T	0.34054	-0.9844	10	0.13853	T	0.58	.	3.3668	0.07206	0.3972:0.0:0.6028:0.0	.	519	Q16799	RTN1_HUMAN	T	99;519;445	ENSP00000267484:P519T	ENSP00000267484:P519T	P	-	1	0	RTN1	59263600	0.001000	0.12720	0.054000	0.19295	0.005000	0.04900	0.612000	0.24283	2.383000	0.81215	0.467000	0.42956	CCG		PASS	0.721	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			7	8	7	8	---	---	---	---
EXD2	55218	broad.mit.edu	37	14	69704299	69704299	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:69704299G>A	ENST00000409018.3	+	8	1428	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	EXD2_ENST00000409014.1_Missense_Mutation_p.V309M|EXD2_ENST00000312994.5_Missense_Mutation_p.V434M|EXD2_ENST00000449989.1_Missense_Mutation_p.V309M|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409675.1_Missense_Mutation_p.V309M|EXD2_ENST00000409949.1_Missense_Mutation_p.V309M|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409242.1_Missense_Mutation_p.V309M	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	434							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.V309M(1)|p.V434M(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGGAAGAACGTGATTCCACA	0.547																																						uc001xkt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(925-927)GTG>ATG		exonuclease 3'-5' domain containing 2							75.0	70.0	72.0					14																	69704299		2203	4300	6503	SO:0001583	missense	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69704299G>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.1300G>A	14.37:g.69704299G>A	ENSP00000387331:p.Val434Met					EXD2_uc001xku.2_Missense_Mutation_p.V179M|EXD2_uc001xkv.2_Missense_Mutation_p.V434M|EXD2_uc001xkw.2_Missense_Mutation_p.V309M|EXD2_uc010aqt.2_Missense_Mutation_p.V434M|EXD2_uc010tte.1_Missense_Mutation_p.V434M|EXD2_uc001xky.2_Missense_Mutation_p.V309M	p.V309M	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			10	1584	+			309					B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	c.925G>A	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700110	0.68501	.	.	ENSG00000081177	ENST00000409018;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000449989	T;T;T;T;T;T;T	0.73469	-0.33;-0.75;-0.75;-0.75;-0.75;-0.33;-0.75	5.24	4.34	0.51931	.	0.230218	0.42964	D	0.000638	T	0.80433	0.4622	L	0.55834	1.745	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.987;0.996	D;P;P	0.72338	0.977;0.696;0.868	T	0.80915	-0.1169	10	0.87932	D	0	-10.4647	7.7776	0.29046	0.3042:0.0:0.6958:0.0	.	434;309;309	G5E947;B3KP95;Q9NVH0	.;.;EXD2_HUMAN	M	434;309;309;309;309;434;309	ENSP00000387331:V434M;ENSP00000386915:V309M;ENSP00000386762:V309M;ENSP00000386632:V309M;ENSP00000386839:V309M;ENSP00000313140:V434M;ENSP00000392177:V309M	ENSP00000313140:V434M	V	+	1	0	EXD2	68774052	1.000000	0.71417	0.984000	0.44739	0.843000	0.47879	3.602000	0.54066	1.409000	0.46915	0.557000	0.71058	GTG		PASS	0.547	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			30	44	30	44	---	---	---	---
ACOT2	10965	broad.mit.edu	37	14	74036246	74036246	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:74036246G>T	ENST00000238651.5	+	1	484	c.302G>T	c.(301-303)cGc>cTc	p.R101L	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	101					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.R101L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCGTCCCTGCGCGACGAGAAG	0.746																																						uc001xon.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(301-303)CGC>CTC		acyl-CoA thioesterase 2							11.0	12.0	12.0					14																	74036246		2116	4034	6150	SO:0001583	missense	10965				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	g.chr14:74036246G>T	AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.302G>T	14.37:g.74036246G>T	ENSP00000238651:p.Arg101Leu					ACOT1_uc010tuc.1_Intron|ACOT2_uc001xom.2_Intron	p.R101L	NM_006821	NP_006812	P49753	ACOT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)	1	475	+			101					Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	ENST00000238651.5	37	c.302G>T	CCDS9816.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.677194	0.47886	.	.	ENSG00000119673	ENST00000238651	T	0.70164	-0.46	3.81	2.9	0.33743	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.349243	0.28146	N	0.016423	T	0.63757	0.2538	M	0.66506	2.035	0.39828	D	0.972928	P	0.46578	0.88	B	0.44044	0.439	T	0.65730	-0.6097	10	0.72032	D	0.01	-23.9208	7.3792	0.26845	0.1451:0.1514:0.7035:0.0	.	101	P49753	ACOT2_HUMAN	L	101	ENSP00000238651:R101L	ENSP00000238651:R101L	R	+	2	0	ACOT2	73105999	0.000000	0.05858	1.000000	0.80357	0.183000	0.23260	-0.473000	0.06615	0.689000	0.31550	0.467000	0.42956	CGC		PASS	0.746	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1	NM_006821		6	10	6	10	---	---	---	---
STON2	85439	broad.mit.edu	37	14	81744701	81744701	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr14:81744701C>T	ENST00000267540.2	-	4	1154	c.954G>A	c.(952-954)gaG>gaA	p.E318E	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Silent_p.E318E	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	318					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)		p.E318E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCTGCAGAGTCTCATTCAGGA	0.502																																						uc010tvu.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|pancreas(2)	5						c.(952-954)GAG>GAA		stonin 2							90.0	94.0	92.0					14																	81744701		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744701C>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.954G>A	14.37:g.81744701C>T						STON2_uc001xvk.1_Silent_p.E318E|STON2_uc010tvt.1_Silent_p.E115E	p.E318E	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1155	-			318					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.954G>A	CCDS9875.1																																																																																				PASS	0.502	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		5	101	5	101	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86124576	86124576	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr15:86124576G>T	ENST00000394518.2	+	7	3372	c.3277G>T	c.(3277-3279)Ggg>Tgg	p.G1093W	AKAP13_ENST00000361243.2_Missense_Mutation_p.G1093W|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1093					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.G1093W(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGATGTTACAGGGGTTAATGC	0.478																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(3277-3279)GGG>TGG		A-kinase anchor protein 13 isoform 2							89.0	87.0	88.0					15																	86124576		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86124576G>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.3277G>T	15.37:g.86124576G>T	ENSP00000378026:p.Gly1093Trp					AKAP13_uc002blt.1_Missense_Mutation_p.G1093W|AKAP13_uc002blu.1_Missense_Mutation_p.G1093W|AKAP13_uc010bne.1_5'Flank	p.G1093W	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	3447	+			1093					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.3277G>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	8.824	0.938202	0.18206	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12361	2.69;2.69	4.72	-0.825	0.10809	.	.	.	.	.	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	P;P	0.47106	0.89;0.793	B;B	0.38712	0.145;0.28	T	0.26087	-1.0113	9	0.56958	D	0.05	.	6.0739	0.19905	0.0773:0.3567:0.4466:0.1195	.	1093;1093	Q12802;Q12802-2	AKP13_HUMAN;.	W	1093;1093;1092;1092	ENSP00000354718:G1093W;ENSP00000378026:G1093W	ENSP00000354718:G1093W	G	+	1	0	AKAP13	83925580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.069000	0.14552	-0.909000	0.03852	-0.795000	0.03280	GGG		PASS	0.478	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		51	75	51	75	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100339924	100339924	+	RNA	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr15:100339924G>A	ENST00000341853.1	-	0	1002					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GCCTCTTTCAGCACGTGGTGC	0.632																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							49.0	44.0	45.0					15																	100339924		876	1991	2867			196968							g.chr15:100339924G>A	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339924G>A						C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_5'Flank|uc002bvt.1_5'Flank		NR_003260						4		-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37	c.1003C>T																																																																																					PASS	0.632	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		17	27	17	27	---	---	---	---
EEF2K	29904	broad.mit.edu	37	16	22261999	22261999	+	Nonsense_Mutation	SNP	G	G	T	rs373246459		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr16:22261999G>T	ENST00000263026.5	+	5	907	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	145	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)	p.E145*(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AGCAATGAGGGAGTGCTTCCG	0.597																																					NSCLC(195;1411 2157 20319 27471 51856)	uc002dki.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(433-435)GAG>TAG		elongation factor-2 kinase							101.0	91.0	94.0					16																	22261999		2197	4300	6497	SO:0001587	stop_gained	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22261999G>T	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.433G>T	16.37:g.22261999G>T	ENSP00000263026:p.Glu145*					EEF2K_uc002dkh.2_RNA	p.E145*	NM_013302	NP_037434	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	5	918	+			145			Alpha-type protein kinase.		Q8N588	Nonsense_Mutation	SNP	ENST00000263026.5	37	c.433G>T	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	42	9.165388	0.99087	.	.	ENSG00000103319	ENST00000263026	.	.	.	5.3	4.34	0.51931	.	0.047843	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-17.2933	13.9221	0.63937	0.0733:0.0:0.9267:0.0	.	.	.	.	X	145	.	ENSP00000263026:E145X	E	+	1	0	EEF2K	22169500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.608000	0.98331	1.235000	0.43724	0.563000	0.77884	GAG		PASS	0.597	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		19	91	19	91	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734622	28734622	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr16:28734622G>T	ENST00000331666.6	+	9	1100	c.914G>T	c.(913-915)cGg>cTg	p.R305L	EIF3C_ENST00000564243.1_Missense_Mutation_p.R295L|EIF3C_ENST00000395587.1_Missense_Mutation_p.R305L|EIF3C_ENST00000566501.1_Missense_Mutation_p.R305L|EIF3C_ENST00000566866.1_Missense_Mutation_p.R305L					eukaryotic translation initiation factor 3, subunit C									p.R305L(2)		lung(5)|skin(1)	6						GAAAGGGTCCGGGGCGGAGTG	0.537																																						uc010byj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(916-918)CGG>CTG		eukaryotic translation initiation factor 3,							280.0	324.0	309.0					16																	28734622		2197	4298	6495	SO:0001583	missense	728689					eukaryotic translation initiation factor 3 complex	translation initiation factor activity	g.chr16:28734622G>T	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.914G>T	16.37:g.28734622G>T	ENSP00000332604:p.Arg305Leu					uc010vct.1_Intron|EIF3CL_uc010byi.2_Missense_Mutation_p.R305L|EIF3CL_uc002dqs.3_Missense_Mutation_p.R305L|EIF3C_uc002dqt.3_Missense_Mutation_p.R305L|EIF3CL_uc010vcy.1_Missense_Mutation_p.R295L|EIF3C_uc002dqu.3_Missense_Mutation_p.R305L|EIF3CL_uc002dqv.3_Missense_Mutation_p.R51L	p.R306L	NM_001099661	NP_001093131	B5ME19	B5ME19_HUMAN			10	1006	+			306						Missense_Mutation	SNP	ENST00000331666.6	37	c.917G>T	CCDS10638.1	.	.	.	.	.	.	.	.	.	.	.	9.467	1.094661	0.20471	.	.	ENSG00000184110	ENST00000395587;ENST00000331666;ENST00000537985;ENST00000395583;ENST00000454461	.	.	.	3.95	3.95	0.45737	Eukaryotic translation initiation factor 3 subunit 8, N-terminal (1);	0.070422	0.56097	D	0.000028	T	0.32675	0.0837	N	0.17082	0.46	0.34655	D	0.722037	B;B;B	0.19445	0.036;0.036;0.036	B;B;B	0.17098	0.017;0.01;0.017	T	0.37979	-0.9682	9	0.37606	T	0.19	.	7.7421	0.28848	0.1148:0.0:0.8851:0.0	.	295;91;305	B4E1D5;B3KNZ4;Q99613	.;.;EIF3C_HUMAN	L	305;305;290;153;127	.	ENSP00000332604:R305L	R	+	2	0	EIF3C	28642123	0.931000	0.31567	0.923000	0.36655	0.298000	0.27526	2.760000	0.47581	2.220000	0.72140	0.447000	0.29281	CGG		PASS	0.537	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		102	481	102	481	---	---	---	---
USP10	9100	broad.mit.edu	37	16	84778370	84778370	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr16:84778370A>G	ENST00000219473.7	+	4	396	c.283A>G	c.(283-285)Aca>Gca	p.T95A	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.T99A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	95	Interaction with p53/TP53.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.T95A(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCTCGGTTGTACAGCTTCCAA	0.498																																						uc002fii.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)ACA>GCA		ubiquitin specific protease 10							70.0	69.0	70.0					16																	84778370		1840	4079	5919	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84778370A>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.283A>G	16.37:g.84778370A>G	ENSP00000219473:p.Thr95Ala					USP10_uc010voe.1_Missense_Mutation_p.T99A|USP10_uc010vof.1_Intron|USP10_uc002fij.2_5'UTR	p.T95A	NM_005153	NP_005144	Q14694	UBP10_HUMAN			4	425	+			95			Interaction with p53/TP53.		B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.283A>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	A	9.891	1.204329	0.22205	.	.	ENSG00000103194	ENST00000219473	T	0.06768	3.26	5.17	-0.0194	0.13960	.	0.741785	0.13258	N	0.401559	T	0.05135	0.0137	L	0.33485	1.01	0.23266	N	0.998011	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.40232	-0.9574	10	0.36615	T	0.2	-0.5188	1.1124	0.01707	0.3947:0.2933:0.1701:0.1419	.	99;95	Q14694-3;Q14694	.;UBP10_HUMAN	A	95	ENSP00000219473:T95A	ENSP00000219473:T95A	T	+	1	0	USP10	83335871	0.878000	0.30173	0.028000	0.17463	0.785000	0.44390	0.750000	0.26334	-0.321000	0.08627	0.402000	0.26972	ACA		PASS	0.498	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			5	101	5	101	---	---	---	---
CA5A	763	broad.mit.edu	37	16	87960490	87960490	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr16:87960490G>T	ENST00000309893.2	-	2	269	c.204C>A	c.(202-204)aaC>aaA	p.N68K	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	68					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.N68K(1)		large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)	Brinzolamide(DB01194)|Zonisamide(DB00909)	TCCACTGGATGTTAATAGGAG	0.607																																						uc002fkn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)AAC>AAA		carbonic anhydrase VA, mitochondrial precursor							42.0	39.0	40.0					16																	87960490		2197	4300	6497	SO:0001583	missense	763				one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding	g.chr16:87960490G>T	L19297	CCDS10965.1	16q24.2	2012-08-21			ENSG00000174990	ENSG00000174990	4.2.1.1	"""Carbonic anhydrases"""	1377	protein-coding gene	gene with protein product		114761		CA5		8356065, 7490083	Standard	NM_001739		Approved	CAV, CAVA	uc002fkn.1	P35218	OTTHUMG00000137677	ENST00000309893.2:c.204C>A	16.37:g.87960490G>T	ENSP00000309649:p.Asn68Lys						p.N68K	NM_001739	NP_001730	P35218	CAH5A_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0513)	2	260	-			68					B2RPF2	Missense_Mutation	SNP	ENST00000309893.2	37	c.204C>A	CCDS10965.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115099	0.37339	.	.	ENSG00000174990	ENST00000309893	T	0.68331	-0.32	4.1	1.71	0.24356	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.171756	0.49916	D	0.000132	D	0.82508	0.5052	M	0.93594	3.435	0.45822	D	0.998691	D	0.71674	0.998	D	0.67900	0.954	D	0.83578	0.0116	10	0.87932	D	0	-16.4814	8.8933	0.35449	0.2644:0.0:0.7356:0.0	.	68	P35218	CAH5A_HUMAN	K	68	ENSP00000309649:N68K	ENSP00000309649:N68K	N	-	3	2	CA5A	86517991	1.000000	0.71417	0.990000	0.47175	0.026000	0.11368	1.772000	0.38552	0.705000	0.31890	0.555000	0.69702	AAC		PASS	0.607	CA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269164.1	NM_001739		6	18	6	18	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7504844	7504844	+	Splice_Site	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:7504844C>T	ENST00000250113.7	-	7	878		c.e7-1			NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.?(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTGTGGTTGACTGGGAGGAAA	0.502																																						uc002gia.1																			2	Unknown(2)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.e7-1		fragile X mental retardation syndrome related							128.0	125.0	126.0					17																	7504844		1904	4119	6023	SO:0001630	splice_region_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7504844C>T	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.544-1G>A	17.37:g.7504844C>T						FXR2_uc010vud.1_Splice_Site_p.S182_splice	p.S182_splice	NM_004860	NP_004851	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	7	771	-								B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Splice_Site	SNP	ENST00000250113.7	37	c.544_splice	CCDS45604.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921698	0.73213	.	.	ENSG00000129245	ENST00000250113	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7517	0.85488	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FXR2	7445569	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.617000	0.83032	2.546000	0.85860	0.643000	0.83706	.		PASS	0.502	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1		Intron	38	152	38	152	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:7577127C>A	ENST00000269305.4	-	8	1000	c.811G>T	c.(811-813)Gag>Tag	p.E271*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E271*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E271*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E271*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E271*	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(811-813)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>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.811G>T	17.37:g.7577127C>A	ENSP00000269305:p.Glu271*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E271*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E139*|TP53_uc010cng.1_Nonsense_Mutation_p.E139*|TP53_uc002gii.1_Nonsense_Mutation_p.E139*|TP53_uc010cnh.1_Nonsense_Mutation_p.E271*|TP53_uc010cni.1_Nonsense_Mutation_p.E271*|TP53_uc002gij.2_Nonsense_Mutation_p.E271*	p.E271*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.811G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.547962	0.97654	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	.	.	.	X	271;271;271;271;271;260;139	.	ENSP00000269305:E271X	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	19	7	19	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10400460	10400460	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:10400460G>T	ENST00000226207.5	-	33	4676	c.4582C>A	c.(4582-4584)Cat>Aat	p.H1528N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1528					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H1528N(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCAGTTCATGGATGCGCTTT	0.373																																						uc002gmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4582-4584)CAT>AAT		myosin, heavy chain 1, skeletal muscle, adult							135.0	133.0	134.0					17																	10400460		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10400460G>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4582C>A	17.37:g.10400460G>T	ENSP00000226207:p.His1528Asn					uc002gml.1_Intron	p.H1528N	NM_005963	NP_005954	P12882	MYH1_HUMAN			33	4676	-			1528			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4582C>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.817788	0.71028	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.81078	-1.45	5.66	4.69	0.59074	Myosin tail (1);	0.000000	0.44688	U	0.000431	D	0.82967	0.5152	M	0.81239	2.535	0.53688	D	0.999974	B	0.18863	0.031	B	0.26770	0.073	T	0.81879	-0.0730	10	0.66056	D	0.02	.	16.4706	0.84111	0.0:0.0:0.8678:0.1322	.	1528	P12882	MYH1_HUMAN	N	1528;617	ENSP00000226207:H1528N	ENSP00000226207:H1528N	H	-	1	0	MYH1	10341185	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.955000	0.87856	1.513000	0.48852	0.655000	0.94253	CAT		PASS	0.373	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		17	37	17	37	---	---	---	---
WSB1	26118	broad.mit.edu	37	17	25637137	25637137	+	Missense_Mutation	SNP	G	G	C	rs540356879		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:25637137G>C	ENST00000262394.2	+	7	1251	c.935G>C	c.(934-936)cGg>cCg	p.R312P	WSB1_ENST00000348811.2_Missense_Mutation_p.R166P	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	312					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)		p.R312P(1)		lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCAAATGACCGGTGGGTACGA	0.418																																						uc002gzd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(934-936)CGG>CCG		WD repeat and SOCS box-containing 1 isoform 1							188.0	158.0	169.0					17																	25637137		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25637137G>C	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.935G>C	17.37:g.25637137G>C	ENSP00000262394:p.Arg312Pro					WSB1_uc002gze.1_Missense_Mutation_p.R166P|WSB1_uc002gzf.1_RNA	p.R312P	NM_015626	NP_056441	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	7	1251	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		312			WD 6.		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.935G>C	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651075	0.67472	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	T;T	0.60424	0.19;0.19	5.93	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.086036	0.49305	D	0.000150	T	0.56963	0.2021	L	0.39514	1.22	0.58432	D	0.999998	D;P	0.53462	0.96;0.907	P;P	0.50109	0.497;0.631	T	0.54906	-0.8223	10	0.32370	T	0.25	-10.7884	14.326	0.66521	0.0709:0.0:0.9291:0.0	.	166;312	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	P	312;166	ENSP00000262394:R312P;ENSP00000327055:R166P	ENSP00000262394:R312P	R	+	2	0	WSB1	22661264	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.785000	0.85724	1.507000	0.48752	0.655000	0.94253	CGG		PASS	0.418	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		5	107	5	107	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28419089	28419089	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:28419089C>T	ENST00000394835.3	+	21	4330	c.4138C>T	c.(4138-4140)Cgt>Tgt	p.R1380C	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1256C|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1380							calcium ion binding (GO:0005509)	p.R1380C(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAAACTAGTGCGTGACATCCT	0.388																																						uc002het.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4138-4140)CGT>TGT		EF-hand calcium binding domain 5 isoform a							85.0	86.0	86.0					17																	28419089		1906	4126	6032	SO:0001583	missense	374786						calcium ion binding	g.chr17:28419089C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4138C>T	17.37:g.28419089C>T	ENSP00000378312:p.Arg1380Cys					EFCAB5_uc010cse.2_Missense_Mutation_p.R1135C|EFCAB5_uc010csf.2_Intron	p.R1380C	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			21	4330	+			1380					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.4138C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980031	0.53827	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.10477	2.87;2.87;2.88	5.75	5.75	0.90469	.	0.521011	0.21036	N	0.081252	T	0.08758	0.0217	N	0.08118	0	0.80722	D	1	D;D	0.57257	0.979;0.979	B;B	0.43123	0.409;0.409	T	0.24083	-1.0170	10	0.87932	D	0	-0.1214	18.943	0.92611	0.0:1.0:0.0:0.0	.	1256;1380	E7EVS9;A4FU69	.;EFCB5_HUMAN	C	1380;1256;1062	ENSP00000378312:R1380C;ENSP00000322003:R1256C;ENSP00000417009:R1062C	ENSP00000322003:R1256C	R	+	1	0	EFCAB5	25443215	0.063000	0.20901	0.011000	0.14972	0.025000	0.11179	2.608000	0.46308	2.714000	0.92807	0.655000	0.94253	CGT		PASS	0.388	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		24	48	24	48	---	---	---	---
NSF	4905	broad.mit.edu	37	17	44806225	44806225	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:44806225C>T	ENST00000398238.4	+	17	1940	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	NSF_ENST00000225282.8_Silent_p.Y517Y|NSF_ENST00000575068.1_Silent_p.Y606Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	611					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.Y611Y(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCAGATTACGTCCCTATTG	0.318																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1831-1833)TAC>TAT		vesicle-fusing ATPase							129.0	113.0	118.0					17																	44806225		1814	4071	5885	SO:0001819	synonymous_variant	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44806225C>T		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1833C>T	17.37:g.44806225C>T						NSF_uc010wke.1_Silent_p.Y517Y|NSF_uc010wkf.1_Silent_p.Y517Y|NSF_uc010wkg.1_Silent_p.Y606Y	p.Y611Y	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	17	1937	+		Melanoma(429;0.203)	611					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Silent	SNP	ENST00000398238.4	37	c.1833C>T	CCDS42354.1																																																																																				PASS	0.318	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		8	27	8	27	---	---	---	---
PSMD12	5718	broad.mit.edu	37	17	65353488	65353488	+	Silent	SNP	C	C	T	rs551667831		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:65353488C>T	ENST00000356126.3	-	3	335	c.228G>A	c.(226-228)gaG>gaA	p.E76E	PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Silent_p.E56E	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.E76E(1)		breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					ATTCTTTAGCCTCATAGCACA	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		19176	0.0		0.0	False		,,,				2504	0.001					uc002jfy.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)GAG>GAA		proteasome 26S non-ATPase subunit 12 isoform 1							88.0	88.0	88.0					17																	65353488		2203	4300	6503	SO:0001819	synonymous_variant	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65353488C>T	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.228G>A	17.37:g.65353488C>T						PSMD12_uc002jga.2_Silent_p.E56E|PSMD12_uc002jfz.2_Silent_p.E17E|PSMD12_uc010det.1_Silent_p.E76E	p.E76E	NM_002816	NP_002807	O00232	PSD12_HUMAN			3	314	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		76					A6NP15|Q53HA2|Q6P053	Silent	SNP	ENST00000356126.3	37	c.228G>A	CCDS11669.1																																																																																				PASS	0.368	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871		7	79	7	79	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67170799	67170799	+	Silent	SNP	G	G	A	rs200504645		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:67170799G>A	ENST00000269081.4	-	25	3906	c.2997C>T	c.(2995-2997)taC>taT	p.Y999Y	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	999					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Y999Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATATGAAGTAGTAAATTAAAT	0.363																																						uc010dfa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2995-2997)TAC>TAT		ATP-binding cassette, sub-family A, member 10							77.0	85.0	82.0					17																	67170799		2202	4292	6494	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67170799G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2997C>T	17.37:g.67170799G>A						ABCA10_uc010wqs.1_Intron|ABCA10_uc010wqt.1_RNA	p.Y999Y	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			25	3876	-	Breast(10;6.95e-12)		999			Helical; (Potential).		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.2997C>T	CCDS11684.1																																																																																				PASS	0.363	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		15	63	15	63	---	---	---	---
PGS1	9489	broad.mit.edu	37	17	76400029	76400029	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:76400029G>T	ENST00000262764.6	+	7	1287	c.1261G>T	c.(1261-1263)Gcc>Tcc	p.A421S	PGS1_ENST00000329897.7_Missense_Mutation_p.A286S|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	421					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.A421S(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTTCTTTGGGGCCAAGGGGGT	0.617																																					Esophageal Squamous(45;182 1126 10685 43198)	uc002jvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)GCC>TCC		phosphatidylglycerophosphate synthase 1							56.0	60.0	59.0					17																	76400029		1978	4145	6123	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76400029G>T		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1261G>T	17.37:g.76400029G>T	ENSP00000262764:p.Ala421Ser					PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.A134S|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.A134S	p.A421S	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		7	1273	+			421					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.1261G>T	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924188	0.92319	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	D;D	0.92099	-2.97;-2.97	5.44	5.44	0.79542	.	0.000000	0.85682	U	0.000000	D	0.92319	0.7563	N	0.20685	0.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89373	0.3676	10	0.14252	T	0.57	-24.4031	19.2601	0.93964	0.0:0.0:1.0:0.0	.	421	Q32NB8	PGPS1_HUMAN	S	421;286	ENSP00000262764:A421S;ENSP00000330039:A286S	ENSP00000262764:A421S	A	+	1	0	PGS1	73911624	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.410000	0.97335	2.549000	0.85964	0.563000	0.77884	GCC		PASS	0.617	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		11	159	11	159	---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76446779	76446779	+	Silent	SNP	G	G	A	rs138142447		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr17:76446779G>A	ENST00000585328.1	-	67	10993	c.10869C>T	c.(10867-10869)agC>agT	p.S3623S	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Silent_p.S3614S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3614					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.S3623S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTCGATCTCGCTGGCTGTGT	0.642																																						uc010dhp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(2)|skin(1)	9						c.(1882-1884)AGC>AGT		SubName: Full=DNAH17 variant protein; Flags: Fragment;		G		0,4406		0,0,2203	73.0	59.0	64.0		10884	-7.5	0.3	17	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH17	NM_173628.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3628/4463	76446779	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8632							g.chr17:76446779G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.10869C>T	17.37:g.76446779G>A						DNAH17_uc002jvq.2_5'Flank|DNAH17_uc002jvs.2_RNA	p.S628S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		12	2106	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.1884C>T																																																																																					PASS	0.642	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		21	17	21	17	---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3879555	3879555	+	Missense_Mutation	SNP	C	C	T	rs372048186		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr18:3879555C>T	ENST00000315677.3	-	4	1109	c.514G>A	c.(514-516)Gag>Aag	p.E172K	DLGAP1_ENST00000584874.1_Missense_Mutation_p.E172K|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Missense_Mutation_p.E172K|DLGAP1_ENST00000581527.1_Missense_Mutation_p.E172K	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	172					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.E172K(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCTGCGCCTCGTCAGGGCTG	0.711																																						uc002kmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(514-516)GAG>AAG		discs large homolog-associated protein 1 isoform		C	LYS/GLU,LYS/GLU	0,4402		0,0,2201	51.0	61.0	58.0		514,514	4.8	0.7	18		58	2,8596	2.2+/-6.3	0,2,4297	no	missense,missense	DLGAP1	NM_001242761.1,NM_004746.3	56,56	0,2,6498	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	172/930,172/978	3879555	2,12998	2201	4299	6500	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879555C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.514G>A	18.37:g.3879555C>T	ENSP00000316377:p.Glu172Lys					DLGAP1_uc010wyz.1_Missense_Mutation_p.E172K|DLGAP1_uc002kmk.2_Missense_Mutation_p.E172K|uc002kml.1_Intron	p.E172K	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	581	-		Colorectal(8;0.0257)	172					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.514G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376802	0.24857	0.0	2.33E-4	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.17854	2.25;2.25	5.75	4.79	0.61399	.	0.998145	0.08116	N	0.995481	T	0.13372	0.0324	L	0.34521	1.04	0.51233	D	0.999916	B;B;P	0.39094	0.043;0.165;0.659	B;B;B	0.22152	0.017;0.038;0.036	T	0.11131	-1.0600	10	0.36615	T	0.2	-6.0257	14.3784	0.66895	0.0:0.9239:0.0:0.0761	.	172;172;172	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	K	172	ENSP00000316377:E172K;ENSP00000445973:E172K	ENSP00000316377:E172K	E	-	1	0	DLGAP1	3869555	1.000000	0.71417	0.706000	0.30403	0.957000	0.61999	4.864000	0.62990	1.273000	0.44346	0.655000	0.94253	GAG		PASS	0.711	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			36	188	36	188	---	---	---	---
TMEM200C	645369	broad.mit.edu	37	18	5891759	5891759	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr18:5891759C>T	ENST00000581347.2	-	3	949	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	RP11-945C19.4_ENST00000580845.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.A102T|RP11-945C19.4_ENST00000577694.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	102						integral component of membrane (GO:0016021)		p.A102T(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTGCTGTTGGCCGTGGTTGGG	0.697																																						uc002kmx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)GCC>ACC		transmembrane protein 200C							32.0	40.0	38.0					18																	5891759		1932	4126	6058	SO:0001583	missense	645369					integral to membrane		g.chr18:5891759C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.304G>A	18.37:g.5891759C>T	ENSP00000463375:p.Ala102Thr						p.A102T	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	345	-			102						Missense_Mutation	SNP	ENST00000581347.2	37	c.304G>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	C	0.344	-0.948706	0.02304	.	.	ENSG00000206432	ENST00000383490	.	.	.	3.67	0.661	0.17874	.	.	.	.	.	T	0.18087	0.0434	N	0.24115	0.695	0.09310	N	1	B	0.20261	0.043	B	0.20384	0.029	T	0.30851	-0.9964	8	0.10636	T	0.68	.	3.0974	0.06314	0.1881:0.4575:0.0:0.3543	.	102	A6NKL6	T200C_HUMAN	T	102	.	ENSP00000372982:A102T	A	-	1	0	TMEM200C	5881759	0.401000	0.25303	0.000000	0.03702	0.041000	0.13682	0.783000	0.26802	0.005000	0.14708	0.460000	0.39030	GCC		PASS	0.697	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		4	104	4	104	---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44416462	44416462	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr18:44416462T>A	ENST00000585916.1	-	9	1059	c.1060A>T	c.(1060-1062)Aca>Tca	p.T354S	PIAS2_ENST00000324794.7_Missense_Mutation_p.T354S|PIAS2_ENST00000545673.1_Missense_Mutation_p.T64S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	354					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.T354S(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CATGGGATTGTCAGCCTCATT	0.438																																						uc002lck.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(1060-1062)ACA>TCA		protein inhibitor of activated STAT X isoform							112.0	96.0	102.0					18																	44416462		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44416462T>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1060A>T	18.37:g.44416462T>A	ENSP00000465676:p.Thr354Ser					PIAS2_uc010dnp.2_Missense_Mutation_p.T52S|PIAS2_uc002lcl.2_Missense_Mutation_p.T354S|PIAS2_uc010xda.1_Missense_Mutation_p.T52S|PIAS2_uc002lcm.2_Missense_Mutation_p.T354S|PIAS2_uc002lcn.1_Missense_Mutation_p.T358S	p.T354S	NM_004671	NP_004662	O75928	PIAS2_HUMAN			9	1218	-			354			SP-RING-type.		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.1060A>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214082	0.39102	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000545673;ENST00000324794	T;T	0.43688	0.94;1.54	5.52	4.37	0.52481	Zinc finger, MIZ-type (2);	0.046086	0.85682	D	0.000000	T	0.27205	0.0667	N	0.17312	0.475	0.80722	D	1	B;B;B;B;B	0.19935	0.001;0.02;0.004;0.013;0.04	B;B;B;B;B	0.25405	0.06;0.031;0.023;0.02;0.05	T	0.07635	-1.0762	10	0.31617	T	0.26	-11.7545	10.8342	0.46677	0.0:0.0741:0.0:0.9259	.	64;358;354;354;354	B4DGW0;O75928-3;Q2TA77;O75928-2;O75928	.;.;.;.;PIAS2_HUMAN	S	354;354;350;64;354	ENSP00000443238:T64S;ENSP00000317163:T354S	ENSP00000262161:T354S	T	-	1	0	PIAS2	42670460	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.056000	0.64287	2.087000	0.62958	0.377000	0.23210	ACA		PASS	0.438	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		19	34	19	34	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44561068	44561068	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr18:44561068C>A	ENST00000332567.4	-	1	920	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	190					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G190W(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGTTGCTTCCCGGGCGCAGCG	0.701																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(568-570)GGG>TGG		elongin A2							23.0	28.0	26.0					18																	44561068		2185	4286	6471	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561068C>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.568G>T	18.37:g.44561068C>A	ENSP00000331302:p.Gly190Trp					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.G190W	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	921	-			190					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.568G>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.901031	0.33535	.	.	ENSG00000206181	ENST00000332567	T	0.06933	3.24	1.21	1.21	0.21127	.	1.175510	0.06627	N	0.758553	T	0.18509	0.0444	L	0.44542	1.39	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.29792	-1.0000	10	0.38643	T	0.18	-3.5616	5.8701	0.18799	0.0:1.0:0.0:0.0	.	190	Q8IYF1	ELOA2_HUMAN	W	190	ENSP00000331302:G190W	ENSP00000331302:G190W	G	-	1	0	TCEB3B	42815066	0.015000	0.18098	0.009000	0.14445	0.011000	0.07611	1.731000	0.38135	0.997000	0.38969	0.456000	0.33151	GGG		PASS	0.701	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		4	59	4	59	---	---	---	---
LIPG	9388	broad.mit.edu	37	18	47108800	47108800	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr18:47108800T>C	ENST00000261292.4	+	7	1383	c.1105T>C	c.(1105-1107)Tac>Cac	p.Y369H	LIPG_ENST00000427224.2_Missense_Mutation_p.Y295H	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	369	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.Y369H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCCACCTTTTACGTCACCCT	0.448																																					Pancreas(126;280 1778 12814 26243 34948)	uc002ldv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1105-1107)TAC>CAC		endothelial lipase precursor							169.0	135.0	146.0					18																	47108800		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47108800T>C	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1105T>C	18.37:g.47108800T>C	ENSP00000261292:p.Tyr369His					LIPG_uc010xdh.1_Missense_Mutation_p.Y295H	p.Y369H	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN			7	1357	+			369			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1105T>C	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	T	3.298	-0.143395	0.06669	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	T;T	0.66995	-0.24;-0.24	6.17	3.8	0.43715	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.357167	0.34652	N	0.003796	T	0.56731	0.2005	L	0.42245	1.32	0.80722	D	1	B;B	0.20368	0.044;0.024	B;B	0.28553	0.091;0.038	T	0.43734	-0.9373	10	0.16420	T	0.52	-24.7124	10.7649	0.46288	0.0:0.1274:0.0:0.8726	.	295;369	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	H	369;295	ENSP00000261292:Y369H;ENSP00000387978:Y295H	ENSP00000261292:Y369H	Y	+	1	0	LIPG	45362798	0.055000	0.20627	0.786000	0.31890	0.034000	0.12701	0.839000	0.27586	0.567000	0.29293	-0.250000	0.11733	TAC		PASS	0.448	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		16	100	16	100	---	---	---	---
DCAF15	90379	broad.mit.edu	37	19	14070631	14070631	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:14070631A>G	ENST00000254337.6	+	9	1385	c.1364A>G	c.(1363-1365)aAt>aGt	p.N455S		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	455					protein ubiquitination (GO:0016567)			p.N455S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TATGTTATCAATGAGGTCATC	0.607											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1363-1365)AAT>AGT		DDB1 and CUL4 associated factor 15							100.0	82.0	88.0					19																	14070631		2203	4300	6503	SO:0001583	missense	90379							g.chr19:14070631A>G	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1364A>G	19.37:g.14070631A>G	ENSP00000254337:p.Asn455Ser		OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692	DCAF15_uc002mxu.2_RNA	p.N455S	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			9	1370	+			455					B3KS86|Q96DW0|Q9BU31	Missense_Mutation	SNP	ENST00000254337.6	37	c.1364A>G	CCDS32926.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.309933	0.81247	.	.	ENSG00000132017	ENST00000254337	.	.	.	4.47	4.47	0.54385	.	0.128300	0.49916	D	0.000133	T	0.65133	0.2662	L	0.34521	1.04	0.58432	D	0.999996	D	0.71674	0.998	D	0.80764	0.994	T	0.68812	-0.5310	9	0.87932	D	0	-16.5206	12.7365	0.57228	1.0:0.0:0.0:0.0	.	455	Q66K64	DCA15_HUMAN	S	455	.	ENSP00000254337:N455S	N	+	2	0	DCAF15	13931631	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	6.331000	0.72929	1.660000	0.50760	0.459000	0.35465	AAT		PASS	0.607	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353		27	76	27	76	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16034683	16034683	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:16034683A>G	ENST00000402119.4	-	6	1283	c.857T>C	c.(856-858)tTc>tCc	p.F286S	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.F286S|CYP4F11_ENST00000326742.8_Missense_Mutation_p.F286S	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11									p.F286S(1)		NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTTCTTGAGGAAATCATCAAT	0.537																																						uc002nbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(856-858)TTC>TCC		cytochrome P450 family 4 subfamily F polypeptide							125.0	118.0	120.0					19																	16034683		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034683A>G	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.857T>C	19.37:g.16034683A>G	ENSP00000384588:p.Phe286Ser					CYP4F11_uc010eab.1_Missense_Mutation_p.F286S|CYP4F11_uc002nbt.2_Missense_Mutation_p.F286S	p.F286S	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			7	893	-			286						Missense_Mutation	SNP	ENST00000402119.4	37	c.857T>C	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	a	6.045	0.376623	0.11466	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.67523	-0.27;-0.27;0.23	2.67	1.59	0.23543	.	0.842489	0.10137	U	0.711394	T	0.51805	0.1696	L	0.32530	0.975	0.09310	N	1	B;B	0.15719	0.014;0.006	B;B	0.22152	0.02;0.038	T	0.37126	-0.9719	10	0.21014	T	0.42	.	6.8767	0.24151	0.5181:0.4819:0.0:0.0	.	286;286	F8W978;Q9HBI6	.;CP4FB_HUMAN	S	286	ENSP00000384588:F286S;ENSP00000248041:F286S;ENSP00000319859:F286S	ENSP00000248041:F286S	F	-	2	0	CYP4F11	15895683	0.147000	0.22687	0.003000	0.11579	0.247000	0.25773	2.628000	0.46477	0.227000	0.20999	0.254000	0.18369	TTC		PASS	0.537	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		80	151	80	151	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17435528	17435528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:17435528G>T	ENST00000159087.4	-	17	3487	c.3329C>A	c.(3328-3330)tCa>tAa	p.S1110*		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1110					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S1110*(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTTGTGACCTGAGCCTTCCTC	0.697																																						uc002ngf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3328-3330)TCA>TAA		anoctamin 8							36.0	45.0	42.0					19																	17435528		1947	3995	5942	SO:0001587	stop_gained	57719					chloride channel complex	chloride channel activity	g.chr19:17435528G>T	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3329C>A	19.37:g.17435528G>T	ENSP00000159087:p.Ser1110*					ANO8_uc010eap.2_RNA	p.S1110*	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			17	3488	-			1110			Extracellular (Potential).		A6NIJ0	Nonsense_Mutation	SNP	ENST00000159087.4	37	c.3329C>A	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	41	9.032288	0.99042	.	.	ENSG00000074855	ENST00000159087	.	.	.	3.4	3.4	0.38934	.	1.817410	0.03524	U	0.221519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2769	0.43515	0.0:0.0:1.0:0.0	.	.	.	.	X	1110	.	ENSP00000159087:S1110X	S	-	2	0	ANO8	17296528	0.998000	0.40836	1.000000	0.80357	0.971000	0.66376	3.850000	0.55918	1.445000	0.47624	0.297000	0.19635	TCA		PASS	0.697	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		12	188	12	188	---	---	---	---
ELL	8178	broad.mit.edu	37	19	18561418	18561418	+	Missense_Mutation	SNP	C	C	T	rs138181189		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:18561418C>T	ENST00000262809.4	-	8	1405	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	ELL_ENST00000596124.3_Missense_Mutation_p.R312H	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	445					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.R445H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGGCTTGCTGCGCGAGGGGCT	0.682			T	MLL	AL																																	uc002njh.2				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1333-1335)CGC>CAC		elongation factor RNA polymerase II																																				SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18561418C>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1334G>A	19.37:g.18561418C>T	ENSP00000262809:p.Arg445His					ELL_uc010ebq.2_Missense_Mutation_p.R388H|ELL_uc002njg.2_Missense_Mutation_p.R312H	p.R445H	NM_006532	NP_006523	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	8	1406	-			445			Nuclear localization signal (Potential).			Missense_Mutation	SNP	ENST00000262809.4	37	c.1334G>A	CCDS12380.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	6.537	0.467276	0.12402	.	.	ENSG00000105656	ENST00000262809	T	0.21543	2.0	4.58	-0.971	0.10303	.	0.985908	0.08280	N	0.970126	T	0.07908	0.0198	N	0.01209	-0.955	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.39683	-0.9602	10	0.23891	T	0.37	.	12.8711	0.57965	0.0:0.1078:0.0:0.8922	.	389;445	Q59HG4;P55199	.;ELL_HUMAN	H	445	ENSP00000262809:R445H	ENSP00000262809:R445H	R	-	2	0	ELL	18422418	0.000000	0.05858	0.003000	0.11579	0.142000	0.21351	-0.025000	0.12413	-0.527000	0.06374	-0.148000	0.13756	CGC		PASS	0.682	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		4	45	4	45	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39330862	39330862	+	Silent	SNP	A	A	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:39330862A>G	ENST00000221419.5	-	8	1473	c.1107T>C	c.(1105-1107)ccT>ccC	p.P369P	HNRNPL_ENST00000600873.1_Silent_p.P236P|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	369	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.P369P(2)|p.P236P(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTGGTGGGGGAGGGGGTGGGG	0.622																																						uc010xul.1																			4	Substitution - coding silent(4)		lung(2)|central_nervous_system(2)		0						c.(1105-1107)CCT>CCC		heterogeneous nuclear ribonucleoprotein L							9.0	12.0	11.0					19																	39330862		1588	3219	4807	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330862A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1107T>C	19.37:g.39330862A>G						HNRNPL_uc010ege.1_Silent_p.P25P|HNRNPL_uc002ojj.1_Silent_p.P25P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.P25P|HNRNPL_uc002ojl.2_Silent_p.P25P|HNRNPL_uc010xum.1_Silent_p.P236P|HNRNPL_uc002ojp.1_Silent_p.P25P|HNRNPL_uc010xun.1_Missense_Mutation_p.L77P	p.P369P	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1118	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		369			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1107T>C	CCDS33015.1																																																																																				PASS	0.622	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			4	18	4	18	---	---	---	---
LGALS13	29124	broad.mit.edu	37	19	40097910	40097910	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:40097910G>A	ENST00000221797.4	+	4	396	c.351G>A	c.(349-351)ccG>ccA	p.P117P		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	117	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|phospholipid metabolic process (GO:0006644)		carbohydrate binding (GO:0030246)|lysophospholipase activity (GO:0004622)	p.P117P(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ATCGAATCCCGCCATCATTTG	0.448																																						uc002omb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)CCG>CCA		galectin-13							199.0	151.0	167.0					19																	40097910		2203	4300	6503	SO:0001819	synonymous_variant	29124				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	g.chr19:40097910G>A	AF117383	CCDS33024.1	19q13.2	2014-03-19	2008-07-25		ENSG00000105198	ENSG00000105198		"""Lectins, galactoside-binding"""	15449	protein-coding gene	gene with protein product	"""galectin 13"""	608717				6856484, 10527825	Standard	NM_013268		Approved	PP13, PLAC8	uc002omb.3	Q9UHV8	OTTHUMG00000183073	ENST00000221797.4:c.351G>A	19.37:g.40097910G>A							p.P117P	NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		4	391	+	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		117			Galectin.		C5HZ15	Silent	SNP	ENST00000221797.4	37	c.351G>A	CCDS33024.1																																																																																				PASS	0.448	LGALS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464968.1	NM_013268		30	77	30	77	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42754489	42754489	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:42754489G>A	ENST00000222329.4	-	2	408	c.251C>T	c.(250-252)gCc>gTc	p.A84V	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Missense_Mutation_p.A9V	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	84					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)	p.A84V(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCACCGCAGGGCCCGGCTCAG	0.637																																						uc002ote.3																			1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(250-252)GCC>GTC		Ets2 repressor factor							37.0	39.0	38.0					19																	42754489		2203	4300	6503	SO:0001583	missense	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42754489G>A	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.251C>T	19.37:g.42754489G>A	ENSP00000222329:p.Ala84Val					ERF_uc002otd.3_5'UTR	p.A84V	NM_006494	NP_006485	P50548	ERF_HUMAN			2	409	-		Prostate(69;0.00682)	84			ETS.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Missense_Mutation	SNP	ENST00000222329.4	37	c.251C>T	CCDS12600.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432169	0.96150	.	.	ENSG00000105722	ENST00000222329;ENST00000440177	T;T	0.71698	-0.59;-0.59	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.89750	0.6805	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92638	0.6122	10	0.87932	D	0	.	17.3798	0.87401	0.0:0.0:1.0:0.0	.	84	P50548	ERF_HUMAN	V	84;9	ENSP00000222329:A84V;ENSP00000388173:A9V	ENSP00000222329:A84V	A	-	2	0	ERF	47446329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.681000	0.98653	2.789000	0.95967	0.655000	0.94253	GCC		PASS	0.637	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		32	58	32	58	---	---	---	---
EML2	24139	broad.mit.edu	37	19	46124521	46124521	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:46124521T>G	ENST00000245925.3	-	11	1116	c.1066A>C	c.(1066-1068)Acc>Ccc	p.T356P	EML2_ENST00000587152.1_Missense_Mutation_p.T557P|EML2_ENST00000589876.1_Missense_Mutation_p.T356P|EML2_ENST00000536630.1_Missense_Mutation_p.T503P|EML2_ENST00000586902.1_5'Flank	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	356	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.T356P(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAATTGCGGGTGGTCCCCACG	0.617																																						uc002pcn.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1066-1068)ACC>CCC		echinoderm microtubule associated protein like							131.0	109.0	117.0					19																	46124521		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124521T>G	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1066A>C	19.37:g.46124521T>G	ENSP00000245925:p.Thr356Pro					EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Missense_Mutation_p.T240P|EML2_uc010xxl.1_Missense_Mutation_p.T503P|EML2_uc010xxm.1_Missense_Mutation_p.T557P|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Missense_Mutation_p.T356P|EML2_uc010ekj.2_Silent_p.P322P	p.T356P	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	11	1101	-		Ovarian(192;0.179)|all_neural(266;0.224)	356					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.1066A>C	CCDS12670.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.570353	0.65765	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000399594	T;T;T	0.30714	1.52;1.64;5.0	3.49	3.49	0.39957	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55545	0.1927	M	0.86651	2.83	0.58432	D	0.999997	D;P;D;D	0.89917	0.998;0.88;1.0;0.996	D;P;D;D	0.69479	0.964;0.791;0.942;0.939	T	0.61028	-0.7145	9	.	.	.	-7.5527	9.9752	0.41779	0.0:0.0:0.0:1.0	.	356;522;503;356	B7Z918;B7Z3Q9;B7Z3I2;O95834	.;.;.;EMAL2_HUMAN	P	503;356;514	ENSP00000442365:T503P;ENSP00000245925:T356P;ENSP00000382503:T514P	.	T	-	1	0	EML2	50816361	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	5.522000	0.67092	1.450000	0.47717	0.379000	0.24179	ACC		PASS	0.617	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		13	72	13	72	---	---	---	---
CD37	951	broad.mit.edu	37	19	49842048	49842048	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:49842048C>A	ENST00000323906.4	+	6	680	c.539C>A	c.(538-540)tCc>tAc	p.S180Y	CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000535669.2_Missense_Mutation_p.S180Y|CD37_ENST00000426897.2_Missense_Mutation_p.S112Y|CD37_ENST00000598095.1_Missense_Mutation_p.S112Y	NM_001774.2	NP_001765.1	P11049	CD37_HUMAN	CD37 molecule	180					defense response to protozoan (GO:0042832)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|positive regulation of immunoglobulin production (GO:0002639)|regulation of defense response to virus (GO:0050688)|regulation of humoral immune response (GO:0002920)	extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.S180Y(1)|p.S180C(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		GTGCCCTGCTCCTGCTACAAC	0.622																																						uc002pnd.2																			2	Substitution - Missense(2)		lung(1)|breast(1)		0						c.(538-540)TCC>TAC		CD37 antigen isoform A							99.0	83.0	89.0					19																	49842048		2203	4300	6503	SO:0001583	missense	951					integral to membrane		g.chr19:49842048C>A		CCDS12760.1, CCDS46139.1	19p13-q13.4	2013-02-14	2006-03-28			ENSG00000104894		"""CD molecules"", ""Tetraspanins"""	1666	protein-coding gene	gene with protein product		151523	"""CD37 antigen"""			8436422	Standard	XM_005259435		Approved	TSPAN26	uc002pnd.3	P11049		ENST00000323906.4:c.539C>A	19.37:g.49842048C>A	ENSP00000325708:p.Ser180Tyr					uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.S180Y|CD37_uc010yan.1_Missense_Mutation_p.S112Y|CD37_uc002pnf.3_Missense_Mutation_p.S152Y|CD37_uc002pne.2_Missense_Mutation_p.S112Y	p.S180Y	NM_001774	NP_001765	P11049	CD37_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)	6	660	+		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	180			Extracellular (Potential).		B4DVC1|Q3KPF9	Missense_Mutation	SNP	ENST00000323906.4	37	c.539C>A	CCDS12760.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542616	0.65198	.	.	ENSG00000104894	ENST00000323906;ENST00000426897;ENST00000535669	D;D;D	0.89050	-2.46;-2.46;-2.46	3.95	3.95	0.45737	Tetraspanin, EC2 domain (1);	0.100510	0.42548	D	0.000683	D	0.94778	0.8314	M	0.89904	3.07	0.54753	D	0.999981	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;0.999	D	0.95335	0.8433	10	0.87932	D	0	.	11.8566	0.52441	0.0:1.0:0.0:0.0	.	112;180;180;180	B4DVC1;B7ZAN3;B4DW15;P11049	.;.;.;CD37_HUMAN	Y	180;112;180	ENSP00000325708:S180Y;ENSP00000413151:S112Y;ENSP00000441037:S180Y	ENSP00000325708:S180Y	S	+	2	0	CD37	54533860	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	2.811000	0.47986	1.917000	0.55516	0.491000	0.48974	TCC		PASS	0.622	CD37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465532.1			40	91	40	91	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50812387	50812387	+	Silent	SNP	G	G	T	rs371748331		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:50812387G>T	ENST00000596571.1	+	39	5790	c.5790G>T	c.(5788-5790)tcG>tcT	p.S1930S	MYH14_ENST00000376970.2_Silent_p.S1963S|MYH14_ENST00000440075.2_Silent_p.S1971S|MYH14_ENST00000598205.1_Silent_p.S1938S|MYH14_ENST00000425460.1_Silent_p.S1938S|MYH14_ENST00000262269.8_Silent_p.S1971S|MYH14_ENST00000601313.1_Silent_p.S1971S|CTB-191K22.5_ENST00000595563.1_RNA			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1930					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.S1971S(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCACAGAGTCGGCCGAGTCCA	0.642																																						uc002prr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(5788-5790)TCG>TCT		myosin, heavy chain 14 isoform 2							94.0	95.0	95.0					19																	50812387		2106	4235	6341	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50812387G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5790G>T	19.37:g.50812387G>T						MYH14_uc010enu.1_Silent_p.S1971S|MYH14_uc002prq.1_Silent_p.S1938S|MYH14_uc010ycb.1_Silent_p.S281S|MYH14_uc002prs.1_Silent_p.S281S	p.S1930S	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5837	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1930			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.5790G>T	CCDS59411.1																																																																																				PASS	0.642	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		20	103	20	103	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56419275	56419275	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:56419275G>T	ENST00000342929.3	-	7	2329	c.2330C>A	c.(2329-2331)gCc>gAc	p.A777D	NLRP13_ENST00000588751.1_Missense_Mutation_p.A777D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	777							ATP binding (GO:0005524)	p.A777D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ACCCTGAAGGGCAATAATGAG	0.502																																						uc010ygg.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2329-2331)GCC>GAC		NACHT, leucine rich repeat and PYD containing							149.0	135.0	140.0					19																	56419275		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56419275G>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2330C>A	19.37:g.56419275G>T	ENSP00000343891:p.Ala777Asp						p.A777D	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	7	2355	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	777					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2330C>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	5.520	0.280846	0.10458	.	.	ENSG00000173572	ENST00000342929	T	0.42513	0.97	2.18	-1.21	0.09524	.	.	.	.	.	T	0.39145	0.1067	M	0.75884	2.315	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.41980	-0.9478	9	0.62326	D	0.03	.	5.8572	0.18727	0.5255:0.0:0.4745:0.0	.	777	Q86W25	NAL13_HUMAN	D	777	ENSP00000343891:A777D	ENSP00000343891:A777D	A	-	2	0	NLRP13	61111087	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	0.248000	0.18198	-0.433000	0.07286	-1.451000	0.01035	GCC		PASS	0.502	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		40	156	40	156	---	---	---	---
VN1R1	57191	broad.mit.edu	37	19	57967296	57967296	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:57967296G>A	ENST00000321039.3	-	1	558	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	187					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.L187F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		ACTAATAGAAGAACAGATGCA	0.398																																						uc002qos.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(559-561)CTT>TTT		vomeronasal 1 receptor 1							86.0	82.0	84.0					19																	57967296		2203	4300	6503	SO:0001583	missense	57191				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:57967296G>A	AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.559C>T	19.37:g.57967296G>A	ENSP00000322339:p.Leu187Phe					ZNF547_uc002qpm.3_Intron	p.L187F	NM_020633	NP_065684	Q9GZP7	VN1R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)	1	559	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)	187			Helical; Name=4; (Potential).		B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	ENST00000321039.3	37	c.559C>T	CCDS12951.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870358	0.33069	.	.	ENSG00000178201	ENST00000321039	T	0.17054	2.3	4.18	-2.96	0.05547	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19167	0.0460	M	0.66506	2.035	0.09310	N	1	B	0.32604	0.377	B	0.43251	0.413	T	0.42632	-0.9440	9	0.40728	T	0.16	.	0.7044	0.00913	0.1883:0.2755:0.2561:0.2801	.	187	Q9GZP7	VN1R1_HUMAN	F	187	ENSP00000322339:L187F	ENSP00000322339:L187F	L	-	1	0	VN1R1	62659108	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.271000	0.18626	-0.454000	0.07066	0.638000	0.83543	CTT		PASS	0.398	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466464.1	NM_020633		6	72	6	72	---	---	---	---
TRIM28	10155	broad.mit.edu	37	19	59061390	59061390	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr19:59061390C>T	ENST00000253024.5	+	15	2470	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	TRIM28_ENST00000341753.6_Silent_p.S645S	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	727	Bromo.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S727S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTACCGACTCCACCTTCTCCC	0.552																																						uc002qtg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(2179-2181)TCC>TCT		tripartite motif-containing 28 protein							63.0	54.0	57.0					19																	59061390		2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061390C>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2181C>T	19.37:g.59061390C>T						TRIM28_uc010eut.1_Silent_p.S645S|TRIM28_uc002qth.1_Silent_p.S342S	p.S727S	NM_005762	NP_005753	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	15	2470	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	727			Bromo.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.2181C>T	CCDS12985.1																																																																																				PASS	0.552	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		12	52	12	52	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5953813	5953813	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:5953813C>G	ENST00000378896.3	+	12	1743	c.1366C>G	c.(1366-1368)Cca>Gca	p.P456A	MCM8_ENST00000265187.4_Missense_Mutation_p.P440A|MCM8_ENST00000378883.1_Intron|MCM8_ENST00000378886.2_Missense_Mutation_p.P496A	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	456	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P456A(1)|p.P440A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TGTTGGAGATCCAGGCCTAGG	0.403																																						uc002wmi.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1366-1368)CCA>GCA		minichromosome maintenance complex component 8							131.0	122.0	125.0					20																	5953813		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5953813C>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1366C>G	20.37:g.5953813C>G	ENSP00000368174:p.Pro456Ala					MCM8_uc002wmj.2_Missense_Mutation_p.P440A|MCM8_uc002wmk.2_Missense_Mutation_p.P496A|MCM8_uc002wml.2_Missense_Mutation_p.P456A|MCM8_uc010gbp.2_Intron|MCM8_uc002wmm.2_Translation_Start_Site	p.P456A	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			12	1743	+			456			ATP (Potential).|MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1366C>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	32	5.166932	0.94768	.	.	ENSG00000125885	ENST00000378896;ENST00000378886;ENST00000265187	T;T;T	0.14893	2.47;2.47;2.47	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);	0.097082	0.64402	D	0.000001	T	0.62816	0.2459	H	0.97874	4.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.75852	-0.3171	10	0.87932	D	0	-16.5589	20.8794	0.99867	0.0:1.0:0.0:0.0	.	496;440;456	E7EQU7;Q9UJA3-3;Q9UJA3	.;.;MCM8_HUMAN	A	456;496;440	ENSP00000368174:P456A;ENSP00000368164:P496A;ENSP00000265187:P440A	ENSP00000265187:P440A	P	+	1	0	MCM8	5901813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.800000	0.85949	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.403	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		28	69	28	69	---	---	---	---
PLCB4	5332	broad.mit.edu	37	20	9417754	9417754	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:9417754C>T	ENST00000378493.1	+	26	2698	c.2683C>T	c.(2683-2685)Cca>Tca	p.P895S	PLCB4_ENST00000278655.4_Missense_Mutation_p.P895S|PLCB4_ENST00000378501.2_Missense_Mutation_p.P895S|PLCB4_ENST00000378473.3_Missense_Mutation_p.P907S|PLCB4_ENST00000334005.3_Missense_Mutation_p.P895S|PLCB4_ENST00000414679.2_Missense_Mutation_p.P907S|PLCB4_ENST00000492632.1_3'UTR			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	895					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.P895S(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAGCTCAGACCAACCACCAC	0.532																																						uc002wnf.2																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(2683-2685)CCA>TCA		phospholipase C beta 4 isoform b							78.0	67.0	71.0					20																	9417754		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9417754C>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2683C>T	20.37:g.9417754C>T	ENSP00000367754:p.Pro895Ser					PLCB4_uc010gbw.1_Missense_Mutation_p.P895S|PLCB4_uc010gbx.2_Missense_Mutation_p.P907S|PLCB4_uc002wne.2_Missense_Mutation_p.P895S|PLCB4_uc002wnh.2_Missense_Mutation_p.P742S	p.P895S	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			28	2819	+			895					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2683C>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485146	0.63962	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.27402	2.11;2.11;1.67;1.67;2.11;1.93	5.93	5.93	0.95920	.	0.169375	0.53938	D	0.000055	T	0.54615	0.1869	L	0.58810	1.83	0.80722	D	1	B;B;D;B	0.63880	0.012;0.027;0.993;0.012	B;B;D;B	0.72982	0.004;0.014;0.979;0.01	T	0.44143	-0.9347	10	0.45353	T	0.12	.	20.3312	0.98718	0.0:1.0:0.0:0.0	.	907;742;895;895	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	S	895;907;895;895;895;743	ENSP00000334105:P895S;ENSP00000367734:P907S;ENSP00000278655:P895S;ENSP00000367754:P895S;ENSP00000367762:P895S;ENSP00000390616:P743S	ENSP00000278655:P895S	P	+	1	0	PLCB4	9365754	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.090000	0.76916	2.797000	0.96272	0.655000	0.94253	CCA		PASS	0.532	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			10	31	10	31	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16359697	16359697	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:16359697C>T	ENST00000354981.2	-	19	3107	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E210K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E984K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E984K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	984	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E984K(2)|p.E984*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCACTTTTTCCTCCTGACGT	0.512																																						uc002wpg.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|prostate(1)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(2950-2952)GAA>AAA		kinesin-like motor protein C20orf23							157.0	156.0	156.0					20																	16359697		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359697C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2950G>A	20.37:g.16359697C>T	ENSP00000347076:p.Glu984Lys					KIF16B_uc002wpe.1_Missense_Mutation_p.E366K|KIF16B_uc002wpf.1_Missense_Mutation_p.E366K|KIF16B_uc010gch.1_Missense_Mutation_p.E984K|KIF16B_uc010gci.1_Missense_Mutation_p.E984K|KIF16B_uc010gcj.1_Missense_Mutation_p.E995K	p.E984K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			19	3108	-			984			Glu-rich.|Potential.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2950G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541021	0.85917	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.73363	-0.67;-0.68;2.0;-0.74	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	L	0.59436	1.845	0.58432	D	0.999998	D;D;D;D	0.76494	0.998;0.999;0.998;0.997	D;D;D;P	0.81914	0.994;0.995;0.964;0.876	T	0.80951	-0.1153	10	0.32370	T	0.25	.	19.6844	0.95976	0.0:1.0:0.0:0.0	.	984;984;984;984	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	984;984;828;210;984	ENSP00000347076:E984K;ENSP00000347995:E984K;ENSP00000367242:E210K;ENSP00000384164:E984K	ENSP00000347076:E984K	E	-	1	0	KIF16B	16307697	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	5.724000	0.68500	2.761000	0.94854	0.655000	0.94253	GAA		PASS	0.512	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		20	234	20	234	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20177230	20177230	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:20177230G>T	ENST00000245957.5	+	16	1683	c.1607G>T	c.(1606-1608)cGg>cTg	p.R536L	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		536								p.R536L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GAGTACATACGGTCCCATTAC	0.413																																						uc002wru.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1606-1608)CGG>CTG		hypothetical protein LOC26074							117.0	92.0	100.0					20																	20177230		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20177230G>T																												ENST00000245957.5:c.1607G>T	20.37:g.20177230G>T	ENSP00000245957:p.Arg536Leu					C20orf26_uc010zse.1_Missense_Mutation_p.R516L	p.R536L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	16	1683	+			536					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.1607G>T	CCDS33447.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.15|15.15	2.747403|2.747403	0.49257|0.49257	.|.	.|.	ENSG00000089101|ENSG00000089101	ENST00000431753|ENST00000343997;ENST00000339482;ENST00000389655;ENST00000245957	.|T	.|0.13778	.|2.56	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.159954	.|0.42294	.|D	.|0.000722	T|T	0.32941|0.32941	0.0846|0.0846	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.99	.|D;P	.|0.68192	.|0.956;0.842	T|T	0.01345|0.01345	-1.1379|-1.1379	5|10	.|0.62326	.|D	.|0.03	.|.	11.4637|11.4637	0.50225|0.50225	0.1388:0.0:0.8612:0.0|0.1388:0.0:0.8612:0.0	.|.	.|516;536	.|F8W6K4;Q8NHU2	.|.;CT026_HUMAN	C|L	76|476;104;516;536	.|ENSP00000245957:R536L	.|ENSP00000245957:R536L	G|R	+|+	1|2	0|0	C20orf26|C20orf26	20125230|20125230	1.000000|1.000000	0.71417|0.71417	0.260000|0.260000	0.24451|0.24451	0.006000|0.006000	0.05464|0.05464	5.561000|5.561000	0.67339|0.67339	2.741000|2.741000	0.93983|0.93983	0.655000|0.655000	0.94253|0.94253	GGT|CGG		PASS	0.413	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			9	62	9	62	---	---	---	---
DEFB118	117285	broad.mit.edu	37	20	29960893	29960894	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:29960893_29960894AG>CT	ENST00000253381.2	+	2	325_326	c.292_293AG>CT	c.(292-294)AGc>CTc	p.S98L		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	98					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.S98L(1)|p.S98I(1)|p.S98R(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGAAGTAAGCAGCAAGAAAGAT	0.45																																						uc002wvr.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(1)	4						c.(292-294)AGC>CGC|c.(292-294)AGC>ATC		beta-defensin 118 precursor																																				SO:0001583	missense	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29960893A>C|g.chr20:29960894G>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	Exception_encountered	20.37:g.29960893_29960894delinsCT	ENSP00000253381:p.Ser98Leu						p.S98R|p.S98I	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	318|319	+	all_hematologic(12;0.158)		98					Q17RC4|Q8N691|Q9NUH0	Missense_Mutation	SNP	ENST00000253381.2	37	c.292A>C|c.293G>T	CCDS13177.1																																																																																				PASS	0.450	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		13	98	13	98	---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35533876	35533876	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:35533876G>A	ENST00000262878.4	-	12	1500	c.1301C>T	c.(1300-1302)aCt>aTt	p.T434I		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	434					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T434I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTTGGGATCAGTAGAGTATAA	0.308																																						uc002xgh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1300-1302)ACT>ATT		SAM domain- and HD domain-containing protein 1							95.0	94.0	94.0					20																	35533876		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35533876G>A	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1301C>T	20.37:g.35533876G>A	ENSP00000262878:p.Thr434Ile					SAMHD1_uc010gft.1_RNA	p.T434I	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN			12	1431	-		Myeloproliferative disorder(115;0.00878)	434					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1301C>T	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196513	0.38806	.	.	ENSG00000101347	ENST00000262878	D	0.95001	-3.58	5.29	0.726	0.18248	.	0.446825	0.28161	N	0.016380	D	0.89371	0.6696	M	0.64567	1.98	0.20196	N	0.999921	P	0.43973	0.823	B	0.37198	0.243	T	0.81444	-0.0930	10	0.37606	T	0.19	-8.4202	3.9448	0.09344	0.0729:0.3068:0.3021:0.3182	.	434	Q9Y3Z3	SAMH1_HUMAN	I	434	ENSP00000262878:T434I	ENSP00000262878:T434I	T	-	2	0	SAMHD1	34967290	0.035000	0.19736	0.349000	0.25694	0.973000	0.67179	0.371000	0.20450	0.325000	0.23359	0.462000	0.41574	ACT		PASS	0.308	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		12	109	12	109	---	---	---	---
R3HDML	140902	broad.mit.edu	37	20	42969953	42969953	+	Splice_Site	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:42969953C>A	ENST00000217043.2	+	2	551	c.379C>A	c.(379-381)Cag>Aag	p.Q127K		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	127	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)	p.Q127K(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATTCTGGCCAGTGAGTGAC	0.552																																						uc002xls.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)CAG>AAG		R3H domain containing-like precursor							56.0	51.0	53.0					20																	42969953		2203	4300	6503	SO:0001630	splice_region_variant	140902					extracellular region	peptidase inhibitor activity	g.chr20:42969953C>A	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.380+1C>A	20.37:g.42969953C>A							p.Q127K	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	551	+		Myeloproliferative disorder(115;0.028)	127						Missense_Mutation	SNP	ENST00000217043.2	37	c.379C>A	CCDS13329.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912940	0.33815	.	.	ENSG00000101074	ENST00000217043	T	0.07444	3.19	5.71	2.7	0.31948	CAP domain (3);	0.125657	0.50627	D	0.000108	T	0.02970	0.0088	N	0.05078	-0.115	0.24721	N	0.993149	B	0.15141	0.012	B	0.13407	0.009	T	0.42882	-0.9425	10	0.15952	T	0.53	.	2.5555	0.04759	0.243:0.4958:0.1115:0.1497	.	127	Q9H3Y0	CRSPL_HUMAN	K	127	ENSP00000217043:Q127K	ENSP00000217043:Q127K	Q	+	1	0	R3HDML	42403367	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	1.635000	0.37134	0.333000	0.23563	-0.812000	0.03155	CAG		PASS	0.552	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491	Missense_Mutation	33	44	33	44	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769077	57769077	+	Silent	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr20:57769077G>A	ENST00000371030.2	+	1	3003	c.3003G>A	c.(3001-3003)gcG>gcA	p.A1001A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1001							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A1001A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGGTGAGGCGGACAGCATCC	0.647																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(3001-3003)GCG>GCA		zinc finger protein 831							37.0	39.0	39.0					20																	57769077		1950	4139	6089	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769077G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3003G>A	20.37:g.57769077G>A							p.A1001A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3003	+	all_lung(29;0.0085)		1001					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3003G>A	CCDS42894.1																																																																																				PASS	0.647	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		28	36	28	36	---	---	---	---
HUNK	30811	broad.mit.edu	37	21	33371224	33371224	+	Silent	SNP	C	C	T	rs376197217		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr21:33371224C>T	ENST00000270112.2	+	11	2232	c.1872C>T	c.(1870-1872)caC>caT	p.H624H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	624					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.H624H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CTTTTGCTCACGAAGATAAGA	0.582																																						uc002yph.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	stomach(1)|skin(1)	2						c.(1870-1872)CAC>CAT		hormonally upregulated Neu-associated kinase							48.0	47.0	47.0					21																	33371224		2203	4300	6503	SO:0001819	synonymous_variant	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33371224C>T	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1872C>T	21.37:g.33371224C>T							p.H624H	NM_014586	NP_055401	P57058	HUNK_HUMAN			11	2232	+			624						Silent	SNP	ENST00000270112.2	37	c.1872C>T	CCDS13610.1																																																																																				PASS	0.582	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586		16	32	16	32	---	---	---	---
ZDHHC8	29801	broad.mit.edu	37	22	20128226	20128226	+	Silent	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr22:20128226G>T	ENST00000334554.7	+	6	888	c.747G>T	c.(745-747)gcG>gcT	p.A249A	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Silent_p.A157A|ZDHHC8_ENST00000405930.3_Silent_p.A249A	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	249					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A249A(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCCCCCTGGCGCCCCGGTGAG	0.672																																						uc002zrq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(745-747)GCG>GCT		zinc finger, DHHC domain containing 8							23.0	23.0	23.0					22																	20128226		2196	4299	6495	SO:0001819	synonymous_variant	29801					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chr22:20128226G>T	AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.747G>T	22.37:g.20128226G>T						ZDHHC8_uc002zrr.1_Silent_p.A249A|ZDHHC8_uc010gsa.2_Silent_p.A55A	p.A249A	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN			6	853	+	Colorectal(54;0.0993)		249			Cytoplasmic (Potential).		Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	c.747G>T	CCDS13776.1																																																																																				PASS	0.672	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1	NM_013373		12	22	12	22	---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21348291	21348291	+	Silent	SNP	C	C	A	rs150365548		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr22:21348291C>A	ENST00000215739.8	+	13	1791	c.1432C>A	c.(1432-1434)Cgg>Agg	p.R478R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.R459R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	478	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R478R(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACGCAGGCGCGGGAGAGGCT	0.642																																						uc002zto.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(1432-1434)CGG>AGG		leucine-zipper-like transcription regulator 1							27.0	30.0	29.0					22																	21348291		2202	4299	6501	SO:0001819	synonymous_variant	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21348291C>A	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1432C>A	22.37:g.21348291C>A						LZTR1_uc002ztn.2_Silent_p.R437R|LZTR1_uc011ahy.1_Silent_p.R459R|LZTR1_uc010gsr.1_Silent_p.R349R|LZTR1_uc002ztp.2_5'Flank	p.R478R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		13	1535	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	478			BTB 1.		Q14776|Q20WK0	Silent	SNP	ENST00000215739.8	37	c.1432C>A	CCDS33606.1																																																																																				PASS	0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		3	63	3	63	---	---	---	---
NIPSNAP1	8508	broad.mit.edu	37	22	29956798	29956798	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr22:29956798G>A	ENST00000216121.7	-	8	885	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	211					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.R211W(1)|p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						TTCTCCTGCCGGTACTTGATG	0.587																																						uc003afx.3																			2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(2)	skin(1)	1						c.(631-633)CGG>TGG		nipsnap homolog 1							102.0	100.0	101.0					22																	29956798		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29956798G>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.631C>T	22.37:g.29956798G>A	ENSP00000216121:p.Arg211Trp					NIPSNAP1_uc011akp.1_Missense_Mutation_p.R191W	p.R211W	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN			8	704	-			211					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.631C>T	CCDS13860.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959727	0.74016	.	.	ENSG00000184117	ENST00000216121	T	0.57907	0.37	4.91	3.89	0.44902	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.93150	3.385	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78114	-0.2330	10	0.87932	D	0	-7.6817	6.9154	0.24357	0.1502:0.0:0.7092:0.1407	.	191;211	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	W	211	ENSP00000216121:R211W	ENSP00000216121:R211W	R	-	1	2	NIPSNAP1	28286798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.505000	0.53356	1.437000	0.47472	0.561000	0.74099	CGG		PASS	0.587	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			19	162	19	162	---	---	---	---
ASB12	142689	broad.mit.edu	37	X	63445290	63445290	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:63445290C>A	ENST00000396130.2	-	1	213	c.214G>T	c.(214-216)Gct>Tct	p.A72S	ASB12_ENST00000362002.2_Missense_Mutation_p.A81S|MTMR8_ENST00000453546.1_Missense_Mutation_p.A456S			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	72					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.A81S(1)|p.A456S(1)|p.A72S(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						CCATAAGAAGCAGCCAAGCGC	0.527																																						uc011mou.1																			5	Substitution - Missense(3)|Whole gene deletion(2)		lung(3)|ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1366-1368)GCT>TCT		myotubularin related protein 8							64.0	46.0	52.0					X																	63445290		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63445290C>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.214G>T	X.37:g.63445290C>A	ENSP00000379435:p.Ala72Ser					ASB12_uc004dvp.1_Missense_Mutation_p.A72S|ASB12_uc004dvq.1_Missense_Mutation_p.A81S|ASB12_uc004dvr.1_Missense_Mutation_p.A81S	p.A456S	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			10	1434	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1366G>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.110753	0.77210	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.72394	-0.65;-0.65;-0.65	3.56	3.56	0.40772	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	L	0.47716	1.5	0.30960	N	0.723777	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.995	T	0.73757	-0.3882	10	0.22109	T	0.4	-5.4496	13.443	0.61125	0.0:1.0:0.0:0.0	.	456;72	B4DQL0;Q8WXK4	.;ASB12_HUMAN	S	81;72;81;456	ENSP00000355195:A81S;ENSP00000379435:A72S;ENSP00000394003:A456S	ENSP00000354626:A81S	A	-	1	0	ASB12;MTMR8	63362015	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.266000	0.58871	1.781000	0.52344	0.529000	0.55759	GCT		PASS	0.527	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	13	5	13	---	---	---	---
MSN	4478	broad.mit.edu	37	X	64956699	64956699	+	Silent	SNP	G	G	A	rs113359990		TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:64956699G>A	ENST00000360270.5	+	9	1174	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	334					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.E334E(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						aaatggcagagaaggagaaag	0.483			T	ALK	ALCL																																	uc004dwf.2				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(1000-1002)GAG>GAA		moesin							103.0	86.0	92.0					X																	64956699		2189	4265	6454	SO:0001819	synonymous_variant	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64956699G>A	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1002G>A	X.37:g.64956699G>A							p.E334E	NM_002444	NP_002435	P26038	MOES_HUMAN			9	1200	+			334						Silent	SNP	ENST00000360270.5	37	c.1002G>A	CCDS14382.1																																																																																				PASS	0.483	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444		2	2	2	2	---	---	---	---
CENPI	2491	broad.mit.edu	37	X	100364557	100364557	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:100364557G>A	ENST00000372927.1	+	4	737	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	CENPI_ENST00000218507.5_Missense_Mutation_p.G154S|CENPI_ENST00000423383.1_Missense_Mutation_p.G154S|CENPI_ENST00000372926.1_Missense_Mutation_p.G154S	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	154					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.G154S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GCTTTGTGTTGGCAAGTGTTC	0.428																																						uc004egx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)GGC>AGC		centromere protein I							356.0	342.0	347.0					X																	100364557		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100364557G>A	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.460G>A	X.37:g.100364557G>A	ENSP00000362018:p.Gly154Ser					CENPI_uc011mrg.1_Missense_Mutation_p.G154S|CENPI_uc004egy.2_Missense_Mutation_p.G154S	p.G154S	NM_006733	NP_006724	Q92674	CENPI_HUMAN			4	730	+			154					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.460G>A	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213254	0.39102	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.43	3.55	0.40652	.	0.380758	0.30649	N	0.009180	T	0.29491	0.0735	L	0.48642	1.525	0.23628	N	0.997254	B;B	0.13594	0.008;0.008	B;B	0.20384	0.029;0.029	T	0.17289	-1.0374	9	0.09084	T	0.74	-0.406	7.1622	0.25671	0.1537:0.1555:0.6908:0.0	.	154;154	B4DZL4;Q92674	.;CENPI_HUMAN	S	154	.	ENSP00000218507:G154S	G	+	1	0	CENPI	100251213	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	1.890000	0.39728	2.258000	0.74832	0.600000	0.82982	GGC		PASS	0.428	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		10	266	10	266	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514710	123514710	+	Silent	SNP	C	C	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:123514710C>T	ENST00000371130.3	-	31	7917	c.7854G>A	c.(7852-7854)cgG>cgA	p.R2618R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.R2625R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2618					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2620R(1)									TATCTGCAAACCGTCTAGTCC	0.512																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7852-7854)CGG>CGA		odz, odd Oz/ten-m homolog 1 isoform 3							101.0	81.0	88.0					X																	123514710		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514710C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7854G>A	X.37:g.123514710C>T						ODZ1_uc011muj.1_Silent_p.R2624R|ODZ1_uc010nqy.2_Silent_p.R2625R	p.R2618R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7918	-			2618			Extracellular (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.7854G>A	CCDS14609.1																																																																																				PASS	0.512	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		27	50	27	50	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129148208	129148208	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:129148208A>C	ENST00000218147.7	+	4	1657	c.1460A>C	c.(1459-1461)gAc>gCc	p.D487A	BCORL1_ENST00000540052.1_Missense_Mutation_p.D487A|BCORL1_ENST00000359304.2_Missense_Mutation_p.D487A|BCORL1_ENST00000303743.5_Missense_Mutation_p.D487A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	487	Pro-rich.				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.D487A(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						TACCTGCAGGACAGGTGTCTC	0.602																																						uc004evb.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(1459-1461)GAC>GCC		BCL6 co-repressor-like 1							90.0	91.0	90.0					X																	129148208		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148208A>C	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.1460A>C	X.37:g.129148208A>C	ENSP00000218147:p.Asp487Ala					BCORL1_uc010nrd.1_Missense_Mutation_p.D389A	p.D487A	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	1574	+			487			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.1460A>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.166139	0.57476	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.51574	0.71;1.09;0.7;0.71;1.17	5.8	5.8	0.92144	.	0.000000	0.38897	N	0.001536	T	0.42653	0.1212	N	0.08118	0	0.34948	D	0.750998	D;D	0.56287	0.975;0.958	P;B	0.55545	0.778;0.444	T	0.56962	-0.7892	10	0.33940	T	0.23	-16.3795	15.1484	0.72677	1.0:0.0:0.0:0.0	.	487;487	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	A	487;487;487;487;87	ENSP00000218147:D487A;ENSP00000307541:D487A;ENSP00000352253:D487A;ENSP00000437775:D487A;ENSP00000399483:D87A	ENSP00000218147:D487A	D	+	2	0	BCORL1	128975889	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.539000	0.82063	1.960000	0.56953	0.430000	0.28490	GAC		PASS	0.602	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		7	103	7	103	---	---	---	---
GABRQ	55879	broad.mit.edu	37	X	151821421	151821421	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:151821421G>T	ENST00000370306.2	+	9	1596	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	526					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.G526C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	TGGCGAGAAGGGTGTGCAAGA	0.527																																						uc004ffp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1576-1578)GGT>TGT		gamma-aminobutyric acid (GABA) receptor, theta							93.0	74.0	81.0					X																	151821421		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821421G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1576G>T	X.37:g.151821421G>T	ENSP00000359329:p.Gly526Cys						p.G526C	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1596	+	Acute lymphoblastic leukemia(192;6.56e-05)		526					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1576G>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.656983	0.00779	.	.	ENSG00000147402	ENST00000370306	D	0.87491	-2.26	4.42	-4.04	0.04010	Neurotransmitter-gated ion-channel transmembrane domain (2);	3.304010	0.00496	N	0.000147	T	0.68559	0.3014	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58244	-0.7670	10	0.39692	T	0.17	.	2.1121	0.03705	0.1452:0.3985:0.1731:0.2832	.	526	Q9UN88	GBRT_HUMAN	C	526	ENSP00000359329:G526C	ENSP00000359329:G526C	G	+	1	0	GABRQ	151572077	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.469000	0.06648	-0.983000	0.03511	-1.175000	0.01729	GGT		PASS	0.527	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		18	16	18	16	---	---	---	---
AVPR2	554	broad.mit.edu	37	X	153171312	153171312	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chrX:153171312C>A	ENST00000358927.2	+	3	561	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	AVPR2_ENST00000370049.1_Missense_Mutation_p.L118M|AVPR2_ENST00000337474.5_Missense_Mutation_p.L118M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	118					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.L118M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CGTGAAGTATCTGCAGATGGT	0.652																																						uc004fjh.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(352-354)CTG>ATG		arginine vasopressin receptor 2 isoform 1	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						65.0	58.0	60.0					X																	153171312		2203	4299	6502	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171312C>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.352C>A	X.37:g.153171312C>A	ENSP00000351805:p.Leu118Met					AVPR2_uc004fjg.3_Intron|AVPR2_uc004fji.2_Missense_Mutation_p.L118M	p.L118M	NM_000054	NP_000045	P30518	V2R_HUMAN			2	423	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		118			Helical; Name=3; (Potential).		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.352C>A	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171139	0.38315	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	3.94	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.62986	0.2473	M	0.80616	2.505	0.51233	D	0.999912	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.64474	-0.6399	10	0.62326	D	0.03	-13.2205	10.5051	0.44828	0.0:0.8967:0.0:0.1033	.	118;118	P30518-2;P30518	.;V2R_HUMAN	M	118	ENSP00000351805:L118M;ENSP00000393513:L118M;ENSP00000338072:L118M;ENSP00000359066:L118M	ENSP00000338072:L118M	L	+	1	2	AVPR2	152824506	0.873000	0.30073	1.000000	0.80357	0.595000	0.36748	0.451000	0.21779	0.631000	0.30412	-0.843000	0.03049	CTG		PASS	0.652	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			25	26	25	26	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154680513	154680513	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:154680513delC	ENST00000271915.4	-	8	2450	c.2135delG	c.(2134-2136)agcfs	p.S712fs	KCNN3_ENST00000358505.2_Frame_Shift_Del_p.S399fs|KCNN3_ENST00000361147.4_Frame_Shift_Del_p.S407fs|KCNN3_ENST00000515643.1_5'UTR	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	717					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	CCCAATGGGGCTATCGGAGAT	0.592																																						uc001ffp.2																			0				lung(1)	1						c.(2134-2136)AGCfs		small conductance calcium-activated potassium							127.0	130.0	129.0					1																	154680513		2203	4300	6503	SO:0001589	frameshift_variant	3782					integral to membrane	calmodulin binding	g.chr1:154680513delC	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2135delG	1.37:g.154680513delC	ENSP00000271915:p.Ser712fs					KCNN3_uc001ffo.2_Frame_Shift_Del_p.S407fs	p.S712fs	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2449	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		717					B1ANX0|O43517|Q86VF9|Q8WXG7	Frame_Shift_Del	DEL	ENST00000271915.4	37	c.2135delG	CCDS30880.1																																																																																					0.592	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		157	89	157	89	---	---	---	---
SELP	6403	broad.mit.edu	37	1	169565276	169565276	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr1:169565276delC	ENST00000263686.6	-	12	2025	c.1988delG	c.(1987-1989)ggtfs	p.G663fs	SELP_ENST00000367792.2_Frame_Shift_Del_p.G479fs|SELP_ENST00000367791.2_Frame_Shift_Del_p.G477fs|SELP_ENST00000367788.2_Frame_Shift_Del_p.G601fs|SELP_ENST00000367793.2_Frame_Shift_Del_p.G601fs|SELP_ENST00000458599.2_Frame_Shift_Del_p.G479fs|SELP_ENST00000367794.2_Frame_Shift_Del_p.G601fs|SELP_ENST00000367786.2_Frame_Shift_Del_p.G601fs	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	663	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGTATTAAAACCAAAGGTTCC	0.512																																						uc001ggi.3																			0				ovary(2)|skin(2)	4						c.(1987-1989)GGTfs		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						293.0	289.0	290.0					1																	169565276		2203	4300	6503	SO:0001589	frameshift_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169565276delC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1988delG	1.37:g.169565276delC	ENSP00000263686:p.Gly663fs					SELP_uc001ggh.2_Frame_Shift_Del_p.G498fs|SELP_uc009wvr.2_Frame_Shift_Del_p.G663fs	p.G663fs	NM_003005	NP_002996	P16109	LYAM3_HUMAN			12	2053	-	all_hematologic(923;0.208)		663			Extracellular (Potential).|Sushi 8.		Q5R344|Q8IVD1	Frame_Shift_Del	DEL	ENST00000263686.6	37	c.1988delG	CCDS1282.1																																																																																					0.512	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		184	106	184	106	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96993095	96993095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr2:96993095delC	ENST00000439118.2	+	3	977	c.726delC	c.(724-726)gtcfs	p.V242fs	ITPRIPL1_ENST00000542887.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_ENST00000536814.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_ENST00000361124.4_Frame_Shift_Del_p.V250fs	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	242						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCCCATTGTCCCCCCACAGG	0.587																																						uc002svx.2																			0				central_nervous_system(2)|ovary(1)	3						c.(724-726)GTCfs		inositol 1,4,5-triphosphate receptor interacting							38.0	41.0	40.0					2																	96993095		2203	4300	6503	SO:0001589	frameshift_variant	150771					integral to membrane		g.chr2:96993095delC		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.726delC	2.37:g.96993095delC	ENSP00000389308:p.Val242fs					ITPRIPL1_uc010yuk.1_Frame_Shift_Del_p.V234fs|ITPRIPL1_uc002svy.2_Frame_Shift_Del_p.V250fs|ITPRIPL1_uc010yul.1_Frame_Shift_Del_p.V234fs	p.V242fs	NM_001008949	NP_001008949	Q6GPH6	IPIL1_HUMAN			3	1061	+			242			Cytoplasmic (Potential).		F5H1L8|Q8NE61	Frame_Shift_Del	DEL	ENST00000439118.2	37	c.726delC	CCDS46360.1																																																																																					0.587	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		41	20	41	20	---	---	---	---
TAS2R5	54429	broad.mit.edu	37	7	141491042	141491042	+	Frame_Shift_Del	DEL	G	G	-	rs2234016	byFrequency	TCGA-39-5019-01A-01D-1817-08	TCGA-39-5019-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6aecd71e-84f1-4b4d-bff6-ede33026f58b	e94dbec9-5564-4154-8da0-7ce1fc53da82	g.chr7:141491042delG	ENST00000247883.4	+	1	1026	c.881delG	c.(880-882)cggfs	p.R295fs		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	295					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.R294L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTGTGTGCTCGGAGATGCTGG	0.488																																						uc003vwr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(880-882)CGGfs		taste receptor T2R5							86.0	91.0	89.0					7																	141491042		2203	4300	6503	SO:0001589	frameshift_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141491042delG	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.881delG	7.37:g.141491042delG	ENSP00000247883:p.Arg295fs						p.R294fs	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			1	1026	+	Melanoma(164;0.0171)		294			Cytoplasmic (Potential).		Q645W0|Q75MV7	Frame_Shift_Del	DEL	ENST00000247883.4	37	c.881delG	CCDS5869.1																																																																																					0.488	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1			219	98	219	98	---	---	---	---
