#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
ATAD3B	83858	broad.mit.edu	37	1	1431162	1431162	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:1431162C>T	ENST00000308647.7	+	16	2028	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	638						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)	p.R638W(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGTGGCGGTCGGCCGTTCTG	0.652																																						uc001afv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1912-1914)CGG>TGG		AAA-ATPase  TOB3							34.0	35.0	35.0					1																	1431162		2202	4300	6502	SO:0001583	missense	83858						ATP binding|nucleoside-triphosphatase activity	g.chr1:1431162C>T	AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1912C>T	1.37:g.1431162C>T	ENSP00000311766:p.Arg638Trp					ATAD3B_uc001afx.2_Missense_Mutation_p.R592W|ATAD3B_uc001afy.2_Missense_Mutation_p.R191W	p.R638W	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	16	2013	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	638					A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Missense_Mutation	SNP	ENST00000308647.7	37	c.1912C>T	CCDS30.1	.	.	.	.	.	.	.	.	.	.	c	7.446	0.641729	0.14451	.	.	ENSG00000160072	ENST00000378737;ENST00000308647	D	0.94457	-3.43	1.2	-0.362	0.12560	.	.	.	.	.	D	0.84465	0.5478	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.74156	-0.3756	9	0.87932	D	0	.	3.5466	0.07831	0.0:0.5958:0.0:0.4042	.	592;638	Q5T9A4-3;Q5T9A4	.;ATD3B_HUMAN	W	472;638	ENSP00000311766:R638W	ENSP00000311766:R638W	R	+	1	2	ATAD3B	1421025	0.024000	0.19004	0.001000	0.08648	0.011000	0.07611	0.000000	0.12993	-0.092000	0.12417	0.194000	0.17425	CGG		PASS	0.652	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921		11	86	11	86	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19440528	19440528	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:19440528C>T	ENST00000375254.3	-	76	11266	c.11239G>A	c.(11239-11241)Gat>Aat	p.D3747N	UBR4_ENST00000375226.2_Missense_Mutation_p.D3723N|UBR4_ENST00000375267.2_Missense_Mutation_p.D3747N|UBR4_ENST00000375217.2_Missense_Mutation_p.D3740N|UBR4_ENST00000375218.3_Missense_Mutation_p.D162N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3747					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D3747N(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACACTCGATCAGCTTTGTCC	0.498											OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(11239-11241)GAT>AAT		retinoblastoma-associated factor 600							110.0	106.0	107.0					1																	19440528		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19440528C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.11239G>A	1.37:g.19440528C>T	ENSP00000364403:p.Asp3747Asn		OREG0013168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	733	UBR4_uc001bbj.1_Missense_Mutation_p.D162N	p.D3747N	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	76	11243	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3747					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.11239G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347162	0.95807	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26660	1.72;1.72;1.75;1.75	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.51873	0.1700	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.971	T	0.43523	-0.9386	10	0.72032	D	0.01	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	162;3747	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	N	3747;3747;3740;3723;162	ENSP00000364403:D3747N;ENSP00000364416:D3747N;ENSP00000364365:D3740N;ENSP00000364374:D3723N	ENSP00000364365:D3740N	D	-	1	0	UBR4	19313115	1.000000	0.71417	0.955000	0.39395	0.974000	0.67602	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		42	54	42	54	---	---	---	---
HTR6	3362	broad.mit.edu	37	1	19992308	19992308	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:19992308C>T	ENST00000289753.1	+	1	529	c.62C>T	c.(61-63)tCg>tTg	p.S21L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	21					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.S21L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	gggccgccgtcggccccgggg	0.736																																					Esophageal Squamous(168;1879 2619 6848 21062)	uc001bcl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)TCG>TTG		5-hydroxytryptamine (serotonin) receptor 6	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)						5.0	6.0	6.0					1																	19992308		1282	2951	4233	SO:0001583	missense	3362				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	g.chr1:19992308C>T	L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.62C>T	1.37:g.19992308C>T	ENSP00000289753:p.Ser21Leu						p.S21L	NM_000871	NP_000862	P50406	5HT6R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	1	529	+		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	21			Extracellular (By similarity).		Q13640|Q5TGZ1	Missense_Mutation	SNP	ENST00000289753.1	37	c.62C>T	CCDS197.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375079	0.24857	.	.	ENSG00000158748	ENST00000289753	T	0.36699	1.24	2.76	1.82	0.25136	.	1.159010	0.06476	U	0.731954	T	0.22322	0.0538	N	0.14661	0.345	0.18873	N	0.999982	B	0.06786	0.001	B	0.01281	0.0	T	0.22977	-1.0201	9	.	.	.	.	9.272	0.37677	0.0:0.7769:0.2231:0.0	.	21	P50406	5HT6R_HUMAN	L	21	ENSP00000289753:S21L	.	S	+	2	0	HTR6	19864895	0.000000	0.05858	0.095000	0.20976	0.500000	0.33767	0.417000	0.21214	0.696000	0.31696	0.313000	0.20887	TCG		PASS	0.736	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007704.1	NM_000871		10	11	10	11	---	---	---	---
ALPL	249	broad.mit.edu	37	1	21887195	21887195	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:21887195C>T	ENST00000374840.3	+	3	388	c.138C>T	c.(136-138)ctC>ctT	p.L46L	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000374832.1_Silent_p.L46L|ALPL_ENST00000539907.1_Missense_Mutation_p.S8L|ALPL_ENST00000540617.1_5'UTR|ALPL_ENST00000425315.2_Silent_p.L46L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	46					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.L46L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	TTCAGAAGCTCAACACCAACG	0.547																																						uc001bet.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(136-138)CTC>CTT		tissue-nonspecific alkaline phosphatase	Amifostine(DB01143)						79.0	78.0	78.0					1																	21887195		2203	4300	6503	SO:0001819	synonymous_variant	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21887195C>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.138C>T	1.37:g.21887195C>T						ALPL_uc010odn.1_Missense_Mutation_p.S8L|ALPL_uc010odo.1_5'UTR|ALPL_uc010odp.1_Missense_Mutation_p.S8L|ALPL_uc001beu.3_Silent_p.L46L	p.L46L	NM_000478	NP_000469	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	3	395	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	46					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Silent	SNP	ENST00000374840.3	37	c.138C>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090575	0.76756	.	.	ENSG00000162551	ENST00000539907	D	0.96232	-3.95	5.71	5.71	0.89125	.	.	.	.	.	D	0.98105	0.9375	.	.	.	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.991	D	0.98149	1.0440	7	.	.	.	-9.7568	18.4213	0.90591	0.0:1.0:0.0:0.0	.	8;8	B7Z387;B7Z1D1	.;.	L	8	ENSP00000437674:S8L	.	S	+	2	0	ALPL	21759782	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.626000	0.54245	2.698000	0.92095	0.561000	0.74099	TCA		PASS	0.547	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		25	41	25	41	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26355755	26355755	+	Missense_Mutation	SNP	C	C	T	rs147835535		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:26355755C>T	ENST00000374280.3	+	2	1718	c.851C>T	c.(850-852)tCg>tTg	p.S284L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	284					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.S284L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCTGCCTCGCGCTTCCTC	0.632																																						uc001blf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(850-852)TCG>TTG		exostoses-like 1							93.0	87.0	89.0					1																	26355755		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26355755C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.851C>T	1.37:g.26355755C>T	ENSP00000363398:p.Ser284Leu						p.S284L	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	2	1718	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	284			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.851C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955414	0.34471	.	.	ENSG00000158008	ENST00000374280	D	0.97642	-4.47	3.91	-7.83	0.01201	.	0.773944	0.11574	N	0.550445	D	0.88347	0.6412	N	0.13098	0.295	0.19300	N	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.80094	-0.1526	10	0.16420	T	0.52	0.1042	5.779	0.18295	0.0:0.3238:0.2444:0.4318	.	284	Q92935	EXTL1_HUMAN	L	284	ENSP00000363398:S284L	ENSP00000363398:S284L	S	+	2	0	EXTL1	26228342	0.025000	0.19082	0.000000	0.03702	0.013000	0.08279	0.150000	0.16263	-1.808000	0.01234	-1.986000	0.00452	TCG		PASS	0.632	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		48	83	48	83	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29585210	29585210	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:29585210G>T	ENST00000345512.3	+	3	528	c.399G>T	c.(397-399)tgG>tgT	p.W133C	PTPRU_ENST00000323874.8_Missense_Mutation_p.W133C|PTPRU_ENST00000356870.3_Missense_Mutation_p.W133C|PTPRU_ENST00000373779.3_Missense_Mutation_p.W133C|PTPRU_ENST00000460170.2_Missense_Mutation_p.W133C|PTPRU_ENST00000428026.2_Missense_Mutation_p.W133C	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	133	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W133C(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTGCTGTGTGGAATATGACTG	0.627																																						uc001bru.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(397-399)TGG>TGT		protein tyrosine phosphatase, receptor type, U							69.0	72.0	71.0					1																	29585210		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585210G>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.399G>T	1.37:g.29585210G>T	ENSP00000334941:p.Trp133Cys					PTPRU_uc001brv.2_Missense_Mutation_p.W133C|PTPRU_uc001brw.2_Missense_Mutation_p.W133C|PTPRU_uc009vtq.2_Missense_Mutation_p.W133C|PTPRU_uc009vtr.2_Missense_Mutation_p.W133C	p.W133C	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	3	509	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	133			Extracellular (Potential).|MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.399G>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977965	0.92982	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.03212	4.01;4.01;4.01;4.01;4.01;4.01	5.72	5.72	0.89469	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.02087	-1.1216	9	.	.	.	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	133;133;133;133;133	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	C	133	ENSP00000334941:W133C;ENSP00000362884:W133C;ENSP00000349333:W133C;ENSP00000314987:W133C;ENSP00000392332:W133C;ENSP00000432906:W133C	.	W	+	3	0	PTPRU	29457797	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.827000	0.99397	2.699000	0.92147	0.591000	0.81541	TGG		PASS	0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			66	95	66	95	---	---	---	---
PTPRU	10076	broad.mit.edu	37	1	29647244	29647244	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:29647244G>A	ENST00000345512.3	+	27	3894	c.3765G>A	c.(3763-3765)caG>caA	p.Q1255Q	PTPRU_ENST00000323874.8_Silent_p.Q1251Q|PTPRU_ENST00000356870.3_Silent_p.Q1251Q|PTPRU_ENST00000373779.3_Silent_p.Q1245Q|PTPRU_ENST00000460170.2_Silent_p.Q1251Q|PTPRU_ENST00000428026.2_Silent_p.Q1242Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1255	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q1251Q(2)|p.Q1255Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		ACCCGCTGCAGAGCACCACGC	0.652																																						uc001bru.2																			3	Substitution - coding silent(3)		lung(3)	large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7						c.(3763-3765)CAG>CAA		protein tyrosine phosphatase, receptor type, U							71.0	64.0	67.0					1																	29647244		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29647244G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3765G>A	1.37:g.29647244G>A						PTPRU_uc001brv.2_Silent_p.Q1251Q|PTPRU_uc001brw.2_Silent_p.Q1245Q|PTPRU_uc009vtq.2_Silent_p.Q1251Q|PTPRU_uc009vtr.2_Silent_p.Q1242Q|PTPRU_uc001brx.2_5'UTR	p.Q1255Q	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	27	3875	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	1255			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.3765G>A	CCDS334.1																																																																																				PASS	0.652	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			23	48	23	48	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34118047	34118047	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:34118047C>T	ENST00000373380.1	-	7	1301	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	CSMD2_ENST00000373381.4_Missense_Mutation_p.D1488N|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1448	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1448N(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTGTCAGGTCTCCCCCGCAG	0.552																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(4342-4344)GAC>AAC		CUB and Sushi multiple domains 2							153.0	129.0	137.0					1																	34118047		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34118047C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1081G>A	1.37:g.34118047C>T	ENSP00000362478:p.Asp361Asn					CSMD2_uc001bxm.1_Missense_Mutation_p.D1488N|CSMD2_uc001bxo.1_Missense_Mutation_p.D361N	p.D1448N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			28	4371	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1448			CUB 9.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.4342G>A		.	.	.	.	.	.	.	.	.	.	C	6.974	0.549663	0.13374	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17213	2.29;2.29	5.49	5.49	0.81192	CUB (5);	0.116646	0.56097	D	0.000022	T	0.05364	0.0142	N	0.02169	-0.655	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.13407	0.005;0.009;0.006	T	0.33979	-0.9847	10	0.07175	T	0.84	.	8.0445	0.30540	0.0:0.8274:0.0:0.1726	.	361;1448;1488	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	N	1488;361	ENSP00000362479:D1488N;ENSP00000362478:D361N	ENSP00000241312:D1448N	D	-	1	0	CSMD2	33890634	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.120000	0.71596	2.552000	0.86080	0.555000	0.69702	GAC		PASS	0.552	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		37	60	37	60	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52991942	52991942	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:52991942G>C	ENST00000371544.3	-	2	273	c.11C>G	c.(10-12)tCt>tGt	p.S4C	ZCCHC11_ENST00000371541.1_5'Flank|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S4C|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S4C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	4					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.S4C(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAGGTTTTAGACTCTTCCAT	0.313																																						uc001ctx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(10-12)TCT>TGT		zinc finger, CCHC domain containing 11 isoform							43.0	43.0	43.0					1																	52991942		2180	4280	6460	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52991942G>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.11C>G	1.37:g.52991942G>C	ENSP00000360599:p.Ser4Cys					ZCCHC11_uc001cty.2_Missense_Mutation_p.S4C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S4C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S4C|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Missense_Mutation_p.S4C|ZCCHC11_uc001cuc.2_RNA|ZCCHC11_uc001cud.2_Missense_Mutation_p.S4C	p.S4C	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			2	245	-			4					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.11C>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.903720	0.52333	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000355809;ENST00000470626;ENST00000524582	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.63	5.63	0.86233	.	0.210214	0.34314	N	0.004080	D	0.86339	0.5909	L	0.48642	1.525	0.25202	N	0.990047	D;D;D;P	0.67145	0.988;0.984;0.996;0.948	P;P;P;B	0.53360	0.635;0.634;0.724;0.41	T	0.81315	-0.0988	10	0.62326	D	0.03	.	14.351	0.66702	0.0:0.1474:0.8526:0.0	.	4;4;4;4	E9PKY2;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	C	4	ENSP00000257177:S4C;ENSP00000360599:S4C;ENSP00000433486:S4C;ENSP00000348063:S4C	ENSP00000257177:S4C	S	-	2	0	ZCCHC11	52764530	1.000000	0.71417	0.999000	0.59377	0.607000	0.37147	3.647000	0.54403	2.654000	0.90174	0.655000	0.94253	TCT		PASS	0.313	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		27	30	27	30	---	---	---	---
ACOT11	26027	broad.mit.edu	37	1	55050433	55050433	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:55050433G>T	ENST00000371316.3	+	2	221	c.139G>T	c.(139-141)Gtg>Ttg	p.V47L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V47L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	47	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.V47L(2)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCCCACGGAGGTGCAGATGAG	0.632																																					Ovarian(148;1440 1861 22015 32453 51933)	uc001cxm.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(139-141)GTG>TTG		thioesterase, adipose associated isoform BFIT1							104.0	83.0	90.0					1																	55050433		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55050433G>T	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.139G>T	1.37:g.55050433G>T	ENSP00000360366:p.Val47Leu					ACOT11_uc001cxj.1_5'UTR|ACOT11_uc001cxk.2_Missense_Mutation_p.V13L|ACOT11_uc001cxl.1_Missense_Mutation_p.V47L	p.V47L	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN			2	221	+			47			Acyl coenzyme A hydrolase 1.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.139G>T	CCDS592.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675358	0.67928	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.44881	0.91;0.91	5.09	4.17	0.49024	.	0.119478	0.56097	D	0.000038	T	0.36580	0.0972	L	0.39692	1.235	0.47374	D	0.9994	B;P	0.40534	0.394;0.72	B;B	0.40506	0.177;0.331	T	0.13656	-1.0501	10	0.37606	T	0.19	-10.863	13.6967	0.62585	0.0748:0.0:0.9252:0.0	.	47;47	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	L	47	ENSP00000340260:V47L;ENSP00000360366:V47L	ENSP00000340260:V47L	V	+	1	0	ACOT11	54823021	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.442000	0.73443	1.277000	0.44412	0.655000	0.94253	GTG		PASS	0.632	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		8	79	8	79	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91781509	91781509	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:91781509C>T	ENST00000370425.3	-	28	3101	c.3003G>A	c.(3001-3003)acG>acA	p.T1001T	HFM1_ENST00000294696.5_Silent_p.T233T|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.T680T	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1001	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T1001T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCTGCCGTCGTATCACTAT	0.313																																						uc001doa.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3001-3003)ACG>ACA		HFM1 protein							51.0	52.0	52.0					1																	91781509		2201	4298	6499	SO:0001819	synonymous_variant	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91781509C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3003G>A	1.37:g.91781509C>T						HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Silent_p.T680T|HFM1_uc001dob.3_Silent_p.T189T|HFM1_uc010osv.1_Silent_p.T685T	p.T1001T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	28	3103	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1001			SEC63.		B1B0B6|Q8N9Q0	Silent	SNP	ENST00000370425.3	37	c.3003G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.720906	0.00700	.	.	ENSG00000162669	ENST00000430465	.	.	.	5.25	-10.5	0.00291	.	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	0.999991	.	.	.	.	.	.	T	0.16424	-1.0403	4	.	.	.	.	1.695	0.02860	0.1974:0.278:0.1097:0.4149	.	.	.	.	Q	213	.	.	R	-	2	0	HFM1	91554097	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.604000	0.05667	-2.028000	0.00931	-2.061000	0.00397	CGA		PASS	0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		22	35	22	35	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113616220	113616220	+	Silent	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:113616220G>T	ENST00000361127.5	+	1	390	c.192G>T	c.(190-192)ccG>ccT	p.P64P	RP11-31F15.2_ENST00000421157.1_lincRNA	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	64	LRRNT.				innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P64P(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGCCCGCACCGAGCTGGAGGG	0.672											OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001edf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(190-192)CCG>CCT		leucine-rich repeats and immunoglobulin-like							44.0	51.0	49.0					1																	113616220		2203	4299	6502	SO:0001819	synonymous_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113616220G>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.192G>T	1.37:g.113616220G>T			OREG0013684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1451	LRIG2_uc009wgn.1_5'UTR|uc001ede.1_5'Flank	p.P64P	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	1	390	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	64			LRRNT.|Extracellular (Potential).		Q9NSN2	Silent	SNP	ENST00000361127.5	37	c.192G>T	CCDS30808.1																																																																																				PASS	0.672	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		66	96	66	96	---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113661920	113661920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:113661920C>T	ENST00000361127.5	+	17	2944	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	916					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R916*(1)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTCCAGGACCCGAGAATACTG	0.423																																						uc001edf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(2746-2748)CGA>TGA		leucine-rich repeats and immunoglobulin-like							144.0	135.0	138.0					1																	113661920		2203	4300	6503	SO:0001587	stop_gained	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113661920C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2746C>T	1.37:g.113661920C>T	ENSP00000355396:p.Arg916*					LRIG2_uc009wgn.1_Nonsense_Mutation_p.R813*	p.R916*	NM_014813	NP_055628	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	17	2944	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	916			Cytoplasmic (Potential).		Q9NSN2	Nonsense_Mutation	SNP	ENST00000361127.5	37	c.2746C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	C	41	8.872432	0.98986	.	.	ENSG00000198799	ENST00000361127	.	.	.	5.12	1.89	0.25635	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7626	0.69617	0.5762:0.4238:0.0:0.0	.	.	.	.	X	916	.	ENSP00000355396:R916X	R	+	1	2	LRIG2	113463443	0.677000	0.27577	1.000000	0.80357	0.993000	0.82548	1.315000	0.33608	0.595000	0.29777	0.591000	0.81541	CGA		PASS	0.423	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		12	172	12	172	---	---	---	---
TTF2	8458	broad.mit.edu	37	1	117632775	117632775	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:117632775A>G	ENST00000369466.4	+	14	2485	c.2441A>G	c.(2440-2442)aAg>aGg	p.K814R		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	814					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.K814R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATTTTAACCAAGAGCCTTTTG	0.478																																						uc001egy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2440-2442)AAG>AGG		transcription termination factor, RNA polymerase							138.0	146.0	144.0					1																	117632775		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117632775A>G	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2441A>G	1.37:g.117632775A>G	ENSP00000358478:p.Lys814Arg						p.K814R	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	14	2461	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	814					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2441A>G	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	9.529	1.110422	0.20714	.	.	ENSG00000116830	ENST00000369466	D	0.93366	-3.21	5.41	1.89	0.25635	SNF2-related (1);	0.557322	0.15111	N	0.279931	T	0.75503	0.3858	N	0.15975	0.35	0.38489	D	0.947932	B	0.18610	0.029	B	0.25140	0.058	T	0.61118	-0.7127	10	0.25106	T	0.35	-12.0277	7.9182	0.29831	0.7577:0.0:0.2423:0.0	.	814	Q9UNY4	TTF2_HUMAN	R	814	ENSP00000358478:K814R	ENSP00000358478:K814R	K	+	2	0	TTF2	117434298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.122000	0.31295	0.168000	0.19655	0.533000	0.62120	AAG		PASS	0.478	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			4	206	4	206	---	---	---	---
WARS2	10352	broad.mit.edu	37	1	119575726	119575726	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:119575726C>T	ENST00000235521.4	-	6	917	c.891G>A	c.(889-891)atG>atA	p.M297I	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Missense_Mutation_p.M203I	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	297					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.M297I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAGCAGTGTTCATGCCCGCGC	0.592																																						uc001ehn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(889-891)ATG>ATA		mitochondrial tryptophanyl tRNA synthetase 2	L-Tryptophan(DB00150)						87.0	88.0	87.0					1																	119575726		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119575726C>T	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.891G>A	1.37:g.119575726C>T	ENSP00000235521:p.Met297Ile					WARS2_uc010oxf.1_Missense_Mutation_p.M203I|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.M240I|WARS2_uc010oxh.1_3'UTR	p.M297I	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	6	919	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	297					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.891G>A	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	9.312	1.055883	0.19907	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.27104	1.69;1.69	5.87	-11.7	0.00046	.	1.283950	0.05062	N	0.480068	T	0.03783	0.0107	N	0.17312	0.475	0.21064	N	0.999793	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.32481	-0.9905	10	0.40728	T	0.16	2.451	8.7139	0.34399	0.2442:0.2722:0.4293:0.0542	.	240;297	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	I	297;203	ENSP00000235521:M297I;ENSP00000438807:M203I	ENSP00000235521:M297I	M	-	3	0	WARS2	119377249	0.000000	0.05858	0.002000	0.10522	0.190000	0.23558	-1.601000	0.02081	-1.874000	0.01133	0.655000	0.94253	ATG		PASS	0.592	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		64	92	64	92	---	---	---	---
HSD3B1	3283	broad.mit.edu	37	1	120057214	120057214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:120057214G>A	ENST00000369413.3	+	4	1213	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	HSD3B1_ENST00000528909.1_Nonsense_Mutation_p.W356*|HSD3B1_ENST00000235547.6_Nonsense_Mutation_p.W358*			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	356					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.W356*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CGGTGGAGTGGGTTGGTTCCC	0.493																																						uc001ehv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1066-1068)TGG>TGA		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						61.0	50.0	54.0					1																	120057214		2203	4300	6503	SO:0001587	stop_gained	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057214G>A	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1068G>A	1.37:g.120057214G>A	ENSP00000358421:p.Trp356*					HSD3B1_uc001ehw.2_Nonsense_Mutation_p.W358*	p.W356*	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1213	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	356					A8K691|Q14545|Q8IV65	Nonsense_Mutation	SNP	ENST00000369413.3	37	c.1068G>A	CCDS903.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223443	0.79464	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	.	.	.	3.26	3.26	0.37387	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4131	12.346	0.55122	0.0:0.0:1.0:0.0	.	.	.	.	X	356;358;356	.	ENSP00000235547:W358X	W	+	3	0	HSD3B1	119858737	1.000000	0.71417	0.668000	0.29813	0.582000	0.36321	6.455000	0.73497	1.799000	0.52666	0.313000	0.20887	TGG		PASS	0.493	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		7	34	7	34	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144856874	144856874	+	Missense_Mutation	SNP	A	A	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:144856874A>C	ENST00000369354.3	-	40	6800	c.6611T>G	c.(6610-6612)aTa>aGa	p.I2204R	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I2289R|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.I2340R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I2204R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I2098R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2204					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.I2204R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGAGACACTATCTTTTTGAC	0.522			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6610-6612)ATA>AGA		phosphodiesterase 4D interacting protein isoform							35.0	30.0	32.0					1																	144856874		2203	4279	6482	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144856874A>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6611T>G	1.37:g.144856874A>C	ENSP00000358360:p.Ile2204Arg					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.I2098R|PDE4DIP_uc001elv.3_Missense_Mutation_p.I1211R	p.I2204R	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	40	6902	-			2204					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6611T>G	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	14.12|14.12	2.441603|2.441603	0.43326|0.43326	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.01838|.	4.61;4.72;4.7;4.71;4.72|.	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	.|.	.|.	.|.	.|.	T|.	0.54498|.	0.1862|.	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B;D|.	0.55800|.	0.226;0.973|.	B;P|.	0.52909|.	0.176;0.713|.	T|.	0.56432|.	-0.7980|.	9|.	0.87932|.	D|.	0|.	.|.	12.0814|12.0814	0.53673|0.53673	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	2098;2204|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	R|E	2098;2204;2204;2289;2340|281	ENSP00000327209:I2098R;ENSP00000358360:I2204R;ENSP00000358363:I2204R;ENSP00000435654:I2289R;ENSP00000358366:I2340R|.	ENSP00000327209:I2098R|.	I|X	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143568231|143568231	1.000000|1.000000	0.71417|0.71417	0.741000|0.741000	0.31004|0.31004	0.007000|0.007000	0.05969|0.05969	7.450000|7.450000	0.80656|0.80656	1.818000|1.818000	0.53035|0.53035	0.374000|0.374000	0.22700|0.22700	ATA|TAG		PASS	0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		11	49	11	49	---	---	---	---
ANKRD34A	284615	broad.mit.edu	37	1	145474701	145474701	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:145474701C>T	ENST00000323397.4	+	4	2666	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	458	Pro-rich.					cytoplasm (GO:0005737)		p.A458V(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TATGCCGGGGCGCCAGGCTCT	0.652																																						uc001enq.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(1372-1374)GCG>GTG		ankyrin repeat domain 34							20.0	23.0	22.0					1																	145474701		2202	4298	6500	SO:0001583	missense	284615							g.chr1:145474701C>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.1373C>T	1.37:g.145474701C>T	ENSP00000314103:p.Ala458Val					NBPF10_uc001emp.3_Intron|LIX1L_uc001enr.2_5'Flank	p.A458V	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	2666	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		458			Pro-rich.		B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.1373C>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	9.964	1.223726	0.22457	.	.	ENSG00000181039	ENST00000323397	T	0.20463	2.07	5.32	2.22	0.28083	.	2.151500	0.02162	N	0.058854	T	0.03434	0.0099	N	0.08118	0	0.31909	N	0.614911	B	0.14012	0.009	B	0.12837	0.008	T	0.23904	-1.0175	10	0.17369	T	0.5	-1.8282	6.7127	0.23286	0.0:0.6541:0.158:0.1878	.	458	Q69YU3	AN34A_HUMAN	V	458	ENSP00000314103:A458V	ENSP00000314103:A458V	A	+	2	0	ANKRD34A	144186058	0.941000	0.31946	1.000000	0.80357	0.949000	0.60115	0.458000	0.21892	0.771000	0.33359	0.650000	0.86243	GCG		PASS	0.652	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			22	28	22	28	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153751662	153751662	+	Silent	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:153751662G>C	ENST00000368661.3	+	8	1925	c.1860G>C	c.(1858-1860)gtG>gtC	p.V620V	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Silent_p.V701V	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	620					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.V620V(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCAGGAGGTGAACGTCTATG	0.587																																						uc001fcz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1858-1860)GTG>GTC		solute carrier family 27 member 3							144.0	145.0	145.0					1																	153751662		2203	4300	6503	SO:0001819	synonymous_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153751662G>C	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1860G>C	1.37:g.153751662G>C						SLC27A3_uc009won.2_RNA	p.V620V	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1925	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		620					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Silent	SNP	ENST00000368661.3	37	c.1860G>C	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	G	9.347	1.064543	0.20067	.	.	ENSG00000143554	ENST00000458027	.	.	.	5.14	3.24	0.37175	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.7739	8.6345	0.33939	0.0:0.3479:0.4955:0.1566	.	.	.	.	S	325	.	.	X	+	2	2	SLC27A3	152018286	0.013000	0.17824	1.000000	0.80357	0.996000	0.88848	-0.982000	0.03762	0.715000	0.32103	0.563000	0.77884	TGA		PASS	0.587	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		125	149	125	149	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154321509	154321509	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:154321509C>A	ENST00000368489.3	+	28	3587	c.3587C>A	c.(3586-3588)tCc>tAc	p.S1196Y		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1182					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.S1196Y(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGCTCCAGCTCCAGCTGGATT	0.622																																						uc001fex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3586-3588)TCC>TAC		ATPase, class I, type 8B, member 2 isoform a							42.0	41.0	42.0					1																	154321509		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154321509C>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3587C>A	1.37:g.154321509C>A	ENSP00000357475:p.Ser1196Tyr						p.S1196Y	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		28	3587	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		1182			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.3587C>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715829	0.48622	.	.	ENSG00000143515	ENST00000368489	T	0.10099	2.91	4.14	3.2	0.36748	.	0.263218	0.31082	N	0.008299	T	0.06234	0.0161	L	0.43152	1.355	0.80722	D	1	P	0.45176	0.852	B	0.43783	0.431	T	0.13548	-1.0505	10	0.66056	D	0.02	.	12.4346	0.55593	0.0:0.8291:0.1709:0.0	.	1196	P98198-3	.	Y	1196	ENSP00000357475:S1196Y	ENSP00000357475:S1196Y	S	+	2	0	ATP8B2	152588133	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.940000	0.49003	0.910000	0.36722	0.561000	0.74099	TCC		PASS	0.622	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		4	50	4	50	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156877498	156877498	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:156877498C>T	ENST00000338302.3	+	8	966	c.741C>T	c.(739-741)tcC>tcT	p.S247S	PEAR1_ENST00000292357.7_Silent_p.S247S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	247	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.S247S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACAGGGCTCCTGCAGCTGCC	0.617																																						uc001fqj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(739-741)TCC>TCT		platelet endothelial aggregation receptor 1							99.0	108.0	105.0					1																	156877498		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156877498C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.741C>T	1.37:g.156877498C>T						PEAR1_uc009wsl.1_Silent_p.S48S|PEAR1_uc001fqk.1_5'UTR	p.S247S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			7	857	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		247			EGF-like 2.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.741C>T	CCDS30892.1																																																																																				PASS	0.617	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		36	256	36	256	---	---	---	---
GPR161	23432	broad.mit.edu	37	1	168059878	168059878	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:168059878C>T	ENST00000367838.1	-	6	1441	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	GPR161_ENST00000546300.1_Silent_p.A262A|GPR161_ENST00000361697.2_Silent_p.A376A|GPR161_ENST00000367836.1_Silent_p.A244A|GPR161_ENST00000537209.1_Silent_p.A396A|GPR161_ENST00000271357.5_Silent_p.A376A|GPR161_ENST00000539777.1_Silent_p.A298A|GPR161_ENST00000367835.1_Silent_p.A376A	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	376					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.A376A(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CTGCCATGAGCGCAGTGAGGT	0.597																																						uc001gfc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1126-1128)GCG>GCA		G protein-coupled receptor 161 isoform 2							39.0	39.0	39.0					1																	168059878		2203	4300	6503	SO:0001819	synonymous_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168059878C>T	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1128G>A	1.37:g.168059878C>T						GPR161_uc001gfb.2_Silent_p.A244A|GPR161_uc010pll.1_Silent_p.A286A|GPR161_uc010plm.1_Silent_p.A262A|GPR161_uc009wvo.2_Silent_p.A393A|GPR161_uc001gfd.2_Silent_p.A376A|GPR161_uc010pln.1_Silent_p.A396A|GPR161_uc001gfe.1_Silent_p.A376A	p.A376A	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			6	1442	-	all_hematologic(923;0.215)		376			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.1128G>A	CCDS1268.1																																																																																				PASS	0.597	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369		19	26	19	26	---	---	---	---
C1orf112	55732	broad.mit.edu	37	1	169798416	169798416	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:169798416C>T	ENST00000286031.6	+	13	1840	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.S308L|C1orf112_ENST00000359326.4_Silent_p.L380L	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	380								p.L380L(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATCTCTACTCAAAGCCGTTT	0.368																																						uc001ggp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1138-1140)CTC>CTT		hypothetical protein LOC55732							121.0	118.0	119.0					1																	169798416		2203	4300	6503	SO:0001819	synonymous_variant	55732							g.chr1:169798416C>T	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1140C>T	1.37:g.169798416C>T						C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Silent_p.L380L|C1orf112_uc009wvt.2_Silent_p.L57L|C1orf112_uc010plu.1_Missense_Mutation_p.S308L|C1orf112_uc009wvu.1_Silent_p.L256L|C1orf112_uc001ggr.2_Silent_p.L245L|C1orf112_uc010plv.1_Silent_p.L322L	p.L380L	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			14	1450	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		380					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Silent	SNP	ENST00000286031.6	37	c.1140C>T	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885867	0.51908	.	.	ENSG00000000460	ENST00000413811	T	0.44881	0.91	5.78	1.21	0.21127	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.18873	N	0.999981	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	7	.	.	.	-6.3509	5.8291	0.18570	0.0:0.4973:0.2791:0.2236	.	308	B4E0A9	.	L	308	ENSP00000389257:S308L	.	S	+	2	0	C1orf112	168065040	0.984000	0.35163	0.998000	0.56505	0.984000	0.73092	0.351000	0.20096	0.346000	0.23899	0.563000	0.77884	TCA		PASS	0.368	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		34	48	34	48	---	---	---	---
FMO3	2328	broad.mit.edu	37	1	171080030	171080030	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:171080030G>A	ENST00000367755.4	+	6	830	c.719G>A	c.(718-720)gGa>gAa	p.G240E	FMO3_ENST00000392085.2_Missense_Mutation_p.G240E|FMO3_ENST00000538429.1_Missense_Mutation_p.G177E|FMO3_ENST00000542847.1_Missense_Mutation_p.G220E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	240					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.G240E(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ACTCGATTTGGAACCTTCCTC	0.468																																						uc001ghi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(718-720)GGA>GAA		flavin containing monooxygenase 3							217.0	189.0	198.0					1																	171080030		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171080030G>A	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.719G>A	1.37:g.171080030G>A	ENSP00000356729:p.Gly240Glu					FMO3_uc001ghh.2_Missense_Mutation_p.G240E|FMO3_uc010pmb.1_Missense_Mutation_p.G220E|FMO3_uc010pmc.1_Missense_Mutation_p.G177E	p.G240E	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			6	830	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		240					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.719G>A	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	2.315	-0.356890	0.05138	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	4.99	2.68	0.31781	.	1.173650	0.05796	N	0.611219	T	0.04048	0.0113	N	0.00583	-1.355	0.21527	N	0.999657	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.34030	-0.9845	10	0.02654	T	1	-2.0285	8.8454	0.35168	0.8517:0.0:0.1483:0.0	.	177;220;240	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	E	240;240;220;177	ENSP00000356729:G240E;ENSP00000375935:G240E;ENSP00000444073:G220E;ENSP00000439500:G177E	ENSP00000356729:G240E	G	+	2	0	FMO3	169346654	0.000000	0.05858	0.982000	0.44146	0.306000	0.27790	-1.111000	0.03303	0.379000	0.24794	-0.806000	0.03193	GGA		PASS	0.468	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		85	139	85	139	---	---	---	---
FMO3	2328	broad.mit.edu	37	1	171085395	171085395	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:171085395G>C	ENST00000367755.4	+	8	1342	c.1231G>C	c.(1231-1233)Gag>Cag	p.E411Q	FMO3_ENST00000392085.2_Missense_Mutation_p.E411Q|FMO3_ENST00000538429.1_Missense_Mutation_p.E348Q|FMO3_ENST00000542847.1_Missense_Mutation_p.E391Q	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	411					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.E411Q(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGATATTAATGAGAAAATGGA	0.358																																						uc001ghi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1231-1233)GAG>CAG		flavin containing monooxygenase 3							133.0	133.0	133.0					1																	171085395		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171085395G>C	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1231G>C	1.37:g.171085395G>C	ENSP00000356729:p.Glu411Gln					FMO3_uc001ghh.2_Missense_Mutation_p.E411Q|FMO3_uc010pmb.1_Missense_Mutation_p.E391Q|FMO3_uc010pmc.1_Missense_Mutation_p.E348Q	p.E411Q	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			8	1342	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		411					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.1231G>C	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	6.704	0.498639	0.12762	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	4.71	1.73	0.24493	.	0.506092	0.22730	N	0.056334	T	0.35740	0.0942	L	0.56199	1.76	0.32324	N	0.562071	D;B;B	0.59357	0.985;0.041;0.016	P;B;B	0.51999	0.687;0.06;0.068	T	0.16041	-1.0416	10	0.25751	T	0.34	-4.9741	8.0579	0.30617	0.3606:0.0:0.6394:0.0	.	348;391;411	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	Q	411;411;391;348	ENSP00000356729:E411Q;ENSP00000375935:E411Q;ENSP00000444073:E391Q;ENSP00000439500:E348Q	ENSP00000356729:E411Q	E	+	1	0	FMO3	169352019	0.933000	0.31639	0.183000	0.23137	0.614000	0.37383	0.235000	0.17948	0.177000	0.19895	0.644000	0.83932	GAG		PASS	0.358	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		62	68	62	68	---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200959778	200959778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:200959778G>A	ENST00000422435.2	-	19	3077	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	KIF21B_ENST00000332129.2_Nonsense_Mutation_p.R921*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.R921*|KIF21B_ENST00000360529.5_Nonsense_Mutation_p.R921*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	921					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R921*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGATCCGTCGCTCCAGGGAC	0.562																																						uc001gvs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)	6						c.(2761-2763)CGA>TGA		kinesin family member 21B							91.0	87.0	88.0					1																	200959778		2203	4300	6503	SO:0001587	stop_gained	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959778G>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2761C>T	1.37:g.200959778G>A	ENSP00000411831:p.Arg921*					KIF21B_uc001gvr.1_Nonsense_Mutation_p.R921*|KIF21B_uc009wzl.1_Nonsense_Mutation_p.R921*|KIF21B_uc010ppn.1_Nonsense_Mutation_p.R921*	p.R921*	NM_017596	NP_060066	O75037	KI21B_HUMAN			19	3078	-			921					B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	ENST00000422435.2	37	c.2761C>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	36	5.694804	0.96793	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.12	1.97	0.26223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6589	0.62354	0.0:0.0:0.4636:0.5364	.	.	.	.	X	921	.	ENSP00000328494:R921X	R	-	1	2	KIF21B	199226401	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	3.631000	0.54280	0.499000	0.27970	0.561000	0.74099	CGA		PASS	0.562	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		29	47	29	47	---	---	---	---
LMOD1	25802	broad.mit.edu	37	1	201915418	201915418	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:201915418G>A	ENST00000367288.4	-	1	297	c.51C>T	c.(49-51)atC>atT	p.I17I		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	17					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.I17I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGGCTGTCGATGTCGGGGT	0.622																																						uc001gxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(49-51)ATC>ATT		leiomodin 1 (smooth muscle)							36.0	40.0	39.0					1																	201915418		1997	4164	6161	SO:0001819	synonymous_variant	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201915418G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.51C>T	1.37:g.201915418G>A						LMOD1_uc010ppu.1_Silent_p.I17I	p.I17I	NM_012134	NP_036266	P29536	LMOD1_HUMAN			1	299	-			17					B1APV6|C4AMB1|Q68EN2	Silent	SNP	ENST00000367288.4	37	c.51C>T	CCDS53457.1																																																																																				PASS	0.622	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			24	27	24	27	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207644250	207644250	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:207644250C>T	ENST00000367058.3	+	7	1580	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	CR2_ENST00000367059.3_Missense_Mutation_p.P464L|CR2_ENST00000458541.2_Missense_Mutation_p.P464L|CR2_ENST00000367057.3_Missense_Mutation_p.P464L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	464	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.P464L(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CCCCCTGTACCCCAATGCAAA	0.448																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1390-1392)CCC>CTC		complement component (3d/Epstein Barr virus)							63.0	65.0	64.0					1																	207644250		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644250C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1391C>T	1.37:g.207644250C>T	ENSP00000356025:p.Pro464Leu					CR2_uc001hfv.2_Missense_Mutation_p.P464L|CR2_uc009xch.2_Missense_Mutation_p.P464L|CR2_uc009xci.1_5'Flank	p.P464L	NM_001877	NP_001868	P20023	CR2_HUMAN			7	1485	+			464			Sushi 7.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1391C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162997	0.38217	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.57	4.57	0.56435	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.92061	0.7484	H	0.97983	4.12	0.37922	D	0.93173	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95291	0.8395	9	0.87932	D	0	.	13.6005	0.62015	0.0:1.0:0.0:0.0	.	464;464;464	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	464	ENSP00000356025:P464L;ENSP00000356024:P464L;ENSP00000356026:P464L;ENSP00000404222:P464L	ENSP00000356024:P464L	P	+	2	0	CR2	205710873	0.432000	0.25554	0.129000	0.21949	0.013000	0.08279	3.354000	0.52254	2.473000	0.83533	0.655000	0.94253	CCC		PASS	0.448	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		11	74	11	74	---	---	---	---
MIR205HG	642587	broad.mit.edu	37	1	209605512	209605512	+	lincRNA	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:209605512C>T	ENST00000384891.1	+	0	35					NR_029622.1				MIR205 host gene (non-protein coding)																		CTTCTCTTGTCCTTCATTCCA	0.532																																						hsa-mir-205|MI0000285																			0					0															163.0	118.0	133.0					1																	209605512		2203	4300	6503			406988							g.chr1:209605512C>T			1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605512C>T						LOC642587_uc009xcn.2_Intron|LOC642587_uc010psk.1_RNA										+									RNA	SNP	ENST00000384891.1	37	c.35C>T																																																																																					PASS	0.532	MIR205HG-202	KNOWN	basic	miRNA	lincRNA				21	35	21	35	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213415398	213415398	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:213415398C>T	ENST00000366960.3	+	11	2729	c.2579C>T	c.(2578-2580)tCt>tTt	p.S860F	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.S563F|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S848F|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S648F	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	860	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.S860F(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAACCAACTTCTTTATTCCAG	0.363																																						uc010ptr.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(2578-2580)TCT>TTT		ribosomal protein S6 kinase, 52kDa, polypeptide							110.0	115.0	113.0					1																	213415398		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415398C>T	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2579C>T	1.37:g.213415398C>T	ENSP00000355927:p.Ser860Phe					RPS6KC1_uc001hkd.2_Missense_Mutation_p.S848F|RPS6KC1_uc010pts.1_Missense_Mutation_p.S648F|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S648F|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S679F|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S395F|RPS6KC1_uc001hke.2_Missense_Mutation_p.S679F	p.S860F	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2738	+			860			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.2579C>T	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	7.364	0.625504	0.14257	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.41400	1.42;1.44;1.44;1.0	4.5	1.51	0.23008	Protein kinase, catalytic domain (1);	0.818608	0.10883	N	0.623565	T	0.24314	0.0589	N	0.22421	0.69	0.09310	N	0.999999	P;B;B	0.42203	0.773;0.257;0.257	B;B;B	0.39339	0.297;0.115;0.115	T	0.10177	-1.0641	10	0.09843	T	0.71	-18.1619	7.3192	0.26517	0.0:0.7038:0.1389:0.1573	.	648;860;848	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	F	648;860;848;563	ENSP00000442306:S648F;ENSP00000355927:S860F;ENSP00000355926:S848F;ENSP00000439282:S563F	ENSP00000355926:S848F	S	+	2	0	RPS6KC1	211482021	0.030000	0.19436	0.158000	0.22627	0.972000	0.66771	0.526000	0.22971	0.009000	0.14813	0.655000	0.94253	TCT		PASS	0.363	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		49	92	49	92	---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214178591	214178591	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:214178591G>A	ENST00000366958.4	+	3	2417	c.1809G>A	c.(1807-1809)ctG>ctA	p.L603L	PROX1_ENST00000261454.4_Silent_p.L603L|PROX1_ENST00000435016.1_Silent_p.L603L|PROX1_ENST00000498508.2_Silent_p.L603L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	603					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.L603L(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)		CCAATATGCTGAAGACCTACT	0.383																																						uc001hkh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1807-1809)CTG>CTA		prospero homeobox 1							110.0	108.0	109.0					1																	214178591		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:214178591G>A	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.1809G>A	1.37:g.214178591G>A							p.L603L	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)	3	2081	+			603			Prospero-type homeobox.		A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1809G>A	CCDS31021.1																																																																																				PASS	0.383	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		32	47	32	47	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228437684	228437684	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:228437684C>A	ENST00000422127.1	+	14	4096	c.4052C>A	c.(4051-4053)gCa>gAa	p.A1351E	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A1351E|OBSCN_ENST00000570156.2_Missense_Mutation_p.A1443E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1351	Ig-like 14.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.A1351E(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGGTGTTTGCAAAGGAGCAG	0.647																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(4051-4053)GCA>GAA		obscurin, cytoskeletal calmodulin and							69.0	73.0	72.0					1																	228437684		2084	4216	6300	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228437684C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4052C>A	1.37:g.228437684C>A	ENSP00000409493:p.Ala1351Glu					OBSCN_uc001hsn.2_Missense_Mutation_p.A1351E	p.A1351E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			14	4096	+		Prostate(94;0.0405)	1351			Ig-like 14.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4052C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.812089	0.32053	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04603	3.59;3.59	5.31	4.4	0.53042	Immunoglobulin-like (1);	0.270973	0.32328	N	0.006248	T	0.10680	0.0261	M	0.75447	2.3	0.80722	D	1	P;D	0.61697	0.94;0.99	P;P	0.54499	0.694;0.754	T	0.27673	-1.0067	10	0.05525	T	0.97	.	9.716	0.40274	0.0:0.8343:0.0:0.1657	.	1351;1351	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	E	1351	ENSP00000284548:A1351E;ENSP00000409493:A1351E	ENSP00000284548:A1351E	A	+	2	0	OBSCN	226504307	0.001000	0.12720	0.954000	0.39281	0.192000	0.23643	0.904000	0.28491	1.234000	0.43709	0.655000	0.94253	GCA		PASS	0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	108	15	108	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234528184	234528184	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:234528184C>T	ENST00000040877.1	-	29	4674	c.4675G>A	c.(4675-4677)Gag>Aag	p.E1559K	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1559					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.E1559K(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)			AGAGATTTCTCAGGAAAGCAA	0.388																																						uc001hwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4675-4677)GAG>AAG		TAR RNA binding protein 1							182.0	183.0	183.0					1																	234528184		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234528184C>T		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.4675G>A	1.37:g.234528184C>T	ENSP00000040877:p.Glu1559Lys						p.E1559K	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		29	4675	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1559					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4675G>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920862	0.92249	.	.	ENSG00000059588	ENST00000040877	T	0.29142	1.58	5.82	5.82	0.92795	tRNA/rRNA methyltransferase, SpoU (1);	0.059251	0.64402	D	0.000003	T	0.28896	0.0717	N	0.04297	-0.235	0.80722	D	1	P	0.49635	0.926	P	0.57468	0.821	T	0.13045	-1.0524	10	0.10111	T	0.7	-15.339	20.0767	0.97748	0.0:1.0:0.0:0.0	.	1559	Q13395	TARB1_HUMAN	K	1559	ENSP00000040877:E1559K	ENSP00000040877:E1559K	E	-	1	0	TARBP1	232594807	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.308000	0.78929	2.757000	0.94681	0.585000	0.79938	GAG		PASS	0.388	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		84	134	84	134	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769064	247769064	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:247769064G>A	ENST00000320002.2	+	1	209	c.177G>A	c.(175-177)atG>atA	p.M59I	RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M59I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACCCCAATGTACTTTTTTC	0.423																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(175-177)ATG>ATA		olfactory receptor, family 2, subfamily G,							270.0	260.0	263.0					1																	247769064		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769064G>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.177G>A	1.37:g.247769064G>A	ENSP00000326301:p.Met59Ile						p.M59I	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	177	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		59			Helical; Name=2; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.177G>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	G	9.535	1.111972	0.20795	.	.	ENSG00000177476	ENST00000320002	T	0.09350	2.99	3.79	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.149295	0.29572	N	0.011778	T	0.29126	0.0724	H	0.99498	4.595	0.26658	N	0.971974	B	0.12630	0.006	B	0.12837	0.008	T	0.39522	-0.9610	10	0.87932	D	0	.	8.0172	0.30387	0.2111:0.0:0.7889:0.0	.	59	Q8NGZ4	OR2G3_HUMAN	I	59	ENSP00000326301:M59I	ENSP00000326301:M59I	M	+	3	0	OR2G3	245835687	1.000000	0.71417	0.935000	0.37517	0.087000	0.18053	4.802000	0.62539	0.376000	0.24707	0.486000	0.48141	ATG		PASS	0.423	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			14	412	14	412	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129125	248129125	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:248129125G>T	ENST00000366480.3	+	1	591	c.492G>T	c.(490-492)tgG>tgT	p.W164C	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W164C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGTGCATGGGCCAGTGGTT	0.413																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(490-492)TGG>TGT		olfactory receptor, family 2, subfamily AK,							216.0	191.0	200.0					1																	248129125		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129125G>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.492G>T	1.37:g.248129125G>T	ENSP00000355436:p.Trp164Cys					OR2L13_uc001ids.2_Intron	p.W164C	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	492	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		164			Helical; Name=4; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.492G>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	11.52	1.661906	0.29515	.	.	ENSG00000187080	ENST00000366480	T	0.59638	0.25	3.03	-0.604	0.11626	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75199	0.3817	M	0.86178	2.8	0.09310	N	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.64976	-0.6280	9	0.87932	D	0	.	10.8102	0.46543	0.0:0.0:0.5397:0.4603	.	164	Q8NG84	O2AK2_HUMAN	C	164	ENSP00000355436:W164C	ENSP00000355436:W164C	W	+	3	0	OR2AK2	246195748	0.003000	0.15002	0.002000	0.10522	0.034000	0.12701	-0.090000	0.11163	0.108000	0.17862	0.455000	0.32223	TGG		PASS	0.413	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		112	168	112	168	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24981004	24981004	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:24981004G>T	ENST00000406961.1	+	21	4696	c.4044G>T	c.(4042-4044)atG>atT	p.M1348I	NCOA1_ENST00000405141.1_Missense_Mutation_p.M1348I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M1348I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M1348I|NCOA1_ENST00000407230.1_Missense_Mutation_p.M1197I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M1348I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M1348I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1348					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.M1348I(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAGGAATGAACACTGTGT	0.483			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - Missense(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(4042-4044)ATG>ATT		nuclear receptor coactivator 1 isoform 1							125.0	110.0	115.0					2																	24981004		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24981004G>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4044G>T	2.37:g.24981004G>T	ENSP00000385216:p.Met1348Ile					NCOA1_uc010eye.2_Missense_Mutation_p.M1348I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1197I|NCOA1_uc002rfj.2_Missense_Mutation_p.M1348I|NCOA1_uc002rfl.2_Missense_Mutation_p.M1348I|NCOA1_uc010eyf.2_Missense_Mutation_p.M241I	p.M1348I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			19	4302	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1348					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.4044G>T	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335746	0.60853	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.02050	4.61;4.58;4.48;4.58;4.61;4.58;4.61	4.94	4.94	0.65067	.	0.156374	0.64402	D	0.000018	T	0.10852	0.0265	M	0.68317	2.08	0.53005	D	0.999962	P;B;P;P	0.48294	0.908;0.435;0.908;0.851	P;B;P;P	0.61397	0.888;0.11;0.888;0.775	T	0.00478	-1.1715	10	0.56958	D	0.05	.	17.9528	0.89058	0.0:0.0:1.0:0.0	.	1348;1348;1348;1197	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	I	1348;1348;1197;1348;1348;1348;1348	ENSP00000385216:M1348I;ENSP00000385097:M1348I;ENSP00000385195:M1197I;ENSP00000444039:M1348I;ENSP00000320940:M1348I;ENSP00000288599:M1348I;ENSP00000379197:M1348I	ENSP00000288599:M1348I	M	+	3	0	NCOA1	24834508	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.220000	0.72237	2.563000	0.86464	0.585000	0.79938	ATG		PASS	0.483	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		25	50	25	50	---	---	---	---
AGBL5	60509	broad.mit.edu	37	2	27278619	27278619	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:27278619C>G	ENST00000360131.4	+	7	1137	c.978C>G	c.(976-978)atC>atG	p.I326M	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.I326M	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	326					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.I326M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCGGCCATCTATGGGGCCA	0.552																																						uc002rie.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(976-978)ATC>ATG		ATP/GTP binding protein-like 5 isoform 1							104.0	93.0	97.0					2																	27278619		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278619C>G	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.978C>G	2.37:g.27278619C>G	ENSP00000353249:p.Ile326Met					AGBL5_uc002ric.2_Missense_Mutation_p.I326M|AGBL5_uc002rid.2_Missense_Mutation_p.I326M|AGBL5_uc002rif.2_RNA	p.I326M	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			7	1195	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		326					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.978C>G	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540505	0.65085	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.21734	2.06;1.99	5.88	3.12	0.35913	.	0.133804	0.64402	D	0.000002	T	0.46983	0.1421	M	0.90145	3.09	0.39520	D	0.968503	D;D;D	0.71674	0.998;0.995;0.995	D;D;D	0.73380	0.98;0.939;0.939	T	0.45991	-0.9223	10	0.87932	D	0	-20.2847	5.5628	0.17154	0.1395:0.6429:0.0:0.2176	.	326;326;326	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	M	326	ENSP00000323681:I326M;ENSP00000353249:I326M	ENSP00000323681:I326M	I	+	3	3	AGBL5	27132123	0.999000	0.42202	0.999000	0.59377	0.882000	0.50991	0.622000	0.24433	0.395000	0.25257	0.491000	0.48974	ATC		PASS	0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		41	58	41	58	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63058184	63058184	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:63058184G>C	ENST00000263991.5	+	7	1007	c.525G>C	c.(523-525)ttG>ttC	p.L175F	EHBP1_ENST00000405289.1_Missense_Mutation_p.L175F|EHBP1_ENST00000431489.1_Missense_Mutation_p.L175F|EHBP1_ENST00000354487.3_Missense_Mutation_p.L175F|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.L175F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	175						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L175F(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGGCTAGTTTGATGAGTATGA	0.343																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(523-525)TTG>TTC		EH domain binding protein 1 isoform 1							135.0	122.0	127.0					2																	63058184		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63058184G>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.525G>C	2.37:g.63058184G>C	ENSP00000263991:p.Leu175Phe					EHBP1_uc010fcp.2_Missense_Mutation_p.L175F|EHBP1_uc002sbx.2_Missense_Mutation_p.L175F|EHBP1_uc002sbz.2_Missense_Mutation_p.L175F|EHBP1_uc002scb.2_Missense_Mutation_p.L175F	p.L175F	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		7	1007	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		175					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.525G>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247054	0.80024	.	.	ENSG00000115504	ENST00000405015;ENST00000449820;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.77358	-1.08;0.65;0.67;-1.08;-1.09;-1.08;-1.08	5.95	5.04	0.67666	.	0.000000	0.64402	D	0.000001	D	0.85877	0.5799	M	0.64170	1.965	0.58432	D	0.999995	D;D;P	0.89917	1.0;1.0;0.78	D;D;P	0.91635	0.999;0.999;0.716	D	0.87061	0.2153	10	0.72032	D	0.01	.	13.7176	0.62708	0.0773:0.0:0.9227:0.0	.	175;175;175	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	F	175;55;175;175;175;175;175	ENSP00000384143:L175F;ENSP00000399609:L55F;ENSP00000384829:L175F;ENSP00000403783:L175F;ENSP00000263991:L175F;ENSP00000346482:L175F;ENSP00000385524:L175F	ENSP00000263991:L175F	L	+	3	2	EHBP1	62911688	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.354000	0.66040	1.447000	0.47661	0.655000	0.94253	TTG		PASS	0.343	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		47	79	47	79	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63058260	63058260	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:63058260G>C	ENST00000263991.5	+	7	1083	c.601G>C	c.(601-603)Gtg>Ctg	p.V201L	EHBP1_ENST00000405289.1_Missense_Mutation_p.V201L|EHBP1_ENST00000431489.1_Missense_Mutation_p.V201L|EHBP1_ENST00000354487.3_Missense_Mutation_p.V201L|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000405015.3_Missense_Mutation_p.V201L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	201						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.V201L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAGAACAGAGTGAACCAAGA	0.343																																						uc002sby.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(601-603)GTG>CTG		EH domain binding protein 1 isoform 1							99.0	90.0	93.0					2																	63058260		2203	4300	6503	SO:0001583	missense	23301	Hereditary_Prostate_Cancer				cytoplasm|membrane		g.chr2:63058260G>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.601G>C	2.37:g.63058260G>C	ENSP00000263991:p.Val201Leu					EHBP1_uc010fcp.2_Missense_Mutation_p.V201L|EHBP1_uc002sbx.2_Missense_Mutation_p.V201L|EHBP1_uc002sbz.2_Missense_Mutation_p.V201L|EHBP1_uc002scb.2_Missense_Mutation_p.V201L	p.V201L	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		7	1083	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		201			Potential.		O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.601G>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988473	0.74589	.	.	ENSG00000115504	ENST00000405015;ENST00000449820;ENST00000405482;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.74315	-0.8;0.93;0.92;-0.8;-0.83;-0.8;-0.8	5.95	5.05	0.67936	.	0.062220	0.64402	N	0.000006	D	0.84183	0.5416	M	0.61703	1.905	0.48901	D	0.99972	D;B;D	0.76494	0.999;0.037;0.996	D;B;D	0.80764	0.994;0.016;0.986	D	0.84732	0.0746	10	0.48119	T	0.1	.	16.3263	0.82983	0.0:0.0:0.8668:0.1332	.	201;201;201	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	L	201;81;201;201;201;201;201	ENSP00000384143:V201L;ENSP00000399609:V81L;ENSP00000384829:V201L;ENSP00000403783:V201L;ENSP00000263991:V201L;ENSP00000346482:V201L;ENSP00000385524:V201L	ENSP00000263991:V201L	V	+	1	0	EHBP1	62911764	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.547000	0.82146	1.486000	0.48398	0.655000	0.94253	GTG		PASS	0.343	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		23	37	23	37	---	---	---	---
TET3	200424	broad.mit.edu	37	2	74327961	74327961	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:74327961C>T	ENST00000409262.3	+	9	3641	c.3641C>T	c.(3640-3642)gCc>gTc	p.A1214V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1214					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)	p.A491V(1)|p.A1214V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCACAGACGCCCACCACCCC	0.652																																						uc002skb.3																			2	Substitution - Missense(2)		lung(2)		0						c.(3640-3642)GCC>GTC		tet oncogene family member 3							20.0	23.0	22.0					2																	74327961		2080	4210	6290	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74327961C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.3641C>T	2.37:g.74327961C>T	ENSP00000386869:p.Ala1214Val						p.A1214V	NM_144993	NP_659430	O43151	TET3_HUMAN			9	3641	+			1214					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.3641C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	9.082	0.999611	0.19121	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.11821	2.74	4.91	2.91	0.33838	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	0.397559	0.23573	N	0.046728	T	0.08044	0.0201	N	0.19112	0.55	0.23346	N	0.997862	B	0.12013	0.005	B	0.22152	0.038	T	0.31971	-0.9924	10	0.23891	T	0.37	.	7.406	0.26991	0.1739:0.5766:0.2495:0.0	.	1214	O43151	TET3_HUMAN	V	1214	ENSP00000386869:A1214V	ENSP00000233310:A1214V	A	+	2	0	TET3	74181469	0.000000	0.05858	0.984000	0.44739	0.624000	0.37722	0.078000	0.14761	1.364000	0.46038	0.655000	0.94253	GCC		PASS	0.652	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			5	12	5	12	---	---	---	---
CCDC93	54520	broad.mit.edu	37	2	118709951	118709951	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:118709951C>T	ENST00000376300.2	-	13	1203	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.E355K	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	356								p.E356K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTGCTCACCTCTGTCAGCGTT	0.428											OREG0003818	type=REGULATORY REGION|Gene=AK001858|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002tlj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1066-1068)GAG>AAG		coiled-coil domain containing 93							241.0	186.0	204.0					2																	118709951		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118709951C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1066G>A	2.37:g.118709951C>T	ENSP00000365477:p.Glu356Lys		OREG0003818	type=REGULATORY REGION|Gene=AK001858|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1490	CCDC93_uc010fld.1_Missense_Mutation_p.E356K	p.E356K	NM_019044	NP_061917	Q567U6	CCD93_HUMAN			13	1192	-			356			Potential.		A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1066G>A	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198978	0.58126	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.19806	2.12;2.13	5.34	3.55	0.40652	.	0.286767	0.37809	N	0.001931	T	0.21631	0.0521	M	0.66939	2.045	0.44402	D	0.997312	B	0.22003	0.063	B	0.22386	0.039	T	0.03545	-1.1026	10	0.34782	T	0.22	-9.4485	8.3089	0.32060	0.0:0.8228:0.0:0.1772	.	356	Q567U6	CCD93_HUMAN	K	356;355	ENSP00000365477:E356K;ENSP00000324135:E355K	ENSP00000324135:E355K	E	-	1	0	CCDC93	118426421	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.920000	0.40025	0.946000	0.37632	-0.142000	0.14014	GAG		PASS	0.428	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		42	58	42	58	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128392713	128392713	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:128392713C>T	ENST00000409816.2	+	41	5686	c.5654C>T	c.(5653-5655)cCc>cTc	p.P1885L	MYO7B_ENST00000428314.1_Missense_Mutation_p.P1885L|MYO7B_ENST00000389524.4_Missense_Mutation_p.P1886L|MYO7B_ENST00000409090.1_Missense_Mutation_p.P738L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1885	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.|MyTH4 3. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.P1885L(1)|p.P2129L(1)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTGACGCTCCCCTACCAGGTG	0.627																																						uc002top.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(5653-5655)CCC>CTC		myosin VIIB							41.0	43.0	42.0					2																	128392713		2016	4174	6190	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128392713C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.5654C>T	2.37:g.128392713C>T	ENSP00000386461:p.Pro1885Leu					MYO7B_uc002tos.1_5'UTR|MYO7B_uc002tot.2_5'UTR	p.P1885L	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	42	5707	+	Colorectal(110;0.1)		1885			FERM 2.|MyTH4 3.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.5654C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	16.41	3.115457	0.56505	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.67	4.76	0.60689	Band 4.1 domain (1);FERM domain (1);	0.276731	0.37761	N	0.001956	T	0.66567	0.2802	L	0.49350	1.555	0.43234	D	0.995138	B	0.31241	0.315	B	0.25759	0.063	T	0.66697	-0.5858	10	0.42905	T	0.14	.	13.0689	0.59048	0.2823:0.7177:0.0:0.0	.	1885	Q6PIF6	MYO7B_HUMAN	L	1886;1885;1885;738	ENSP00000374175:P1886L;ENSP00000415090:P1885L;ENSP00000386461:P1885L;ENSP00000386850:P738L	ENSP00000374175:P1886L	P	+	2	0	MYO7B	128109183	0.878000	0.30173	1.000000	0.80357	0.994000	0.84299	3.182000	0.50910	2.686000	0.91538	0.561000	0.74099	CCC		PASS	0.627	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	17	3	17	---	---	---	---
TANC1	85461	broad.mit.edu	37	2	160031616	160031616	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:160031616G>A	ENST00000263635.6	+	12	1893	c.1656G>A	c.(1654-1656)ctG>ctA	p.L552L	TANC1_ENST00000454300.1_Silent_p.L446L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	552					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.L552L(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGCATGCTGAGCCTCCGAT	0.577																																						uc002uag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1654-1656)CTG>CTA		tetratricopeptide repeat, ankyrin repeat and							76.0	80.0	79.0					2																	160031616		1989	4159	6148	SO:0001819	synonymous_variant	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160031616G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.1656G>A	2.37:g.160031616G>A						TANC1_uc010fol.1_Silent_p.L446L|TANC1_uc010zcm.1_Silent_p.L544L|TANC1_uc010fom.1_Silent_p.L358L|TANC1_uc002uai.1_5'Flank	p.L552L	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			12	1930	+			552					C9JD88|Q49AI8	Silent	SNP	ENST00000263635.6	37	c.1656G>A	CCDS42766.1																																																																																				PASS	0.577	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			76	92	76	92	---	---	---	---
STK17B	9262	broad.mit.edu	37	2	197028073	197028073	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:197028073G>A	ENST00000263955.4	-	2	321	c.35C>T	c.(34-36)tCa>tTa	p.S12L	STK17B_ENST00000409228.1_Missense_Mutation_p.S12L	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	12					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S12L(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TAGTAGGCCTGAAATACTTCG	0.343																																						uc002utk.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(34-36)TCA>TTA		serine/threonine kinase 17B							82.0	85.0	84.0					2																	197028073		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197028073G>A	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.35C>T	2.37:g.197028073G>A	ENSP00000263955:p.Ser12Leu					STK17B_uc010fsh.2_Missense_Mutation_p.S12L	p.S12L	NM_004226	NP_004217	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		2	359	-			12						Missense_Mutation	SNP	ENST00000263955.4	37	c.35C>T	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376505	0.61735	.	.	ENSG00000081320	ENST00000263955;ENST00000409228;ENST00000420683	T;T;T	0.67698	-0.28;-0.28;1.34	5.38	5.38	0.77491	.	0.000000	0.40064	N	0.001190	T	0.55593	0.1930	N	0.24115	0.695	0.48762	D	0.999705	B	0.15473	0.013	B	0.11329	0.006	T	0.50415	-0.8831	10	0.45353	T	0.12	.	17.5001	0.87728	0.0:0.0:1.0:0.0	.	12	O94768	ST17B_HUMAN	L	12	ENSP00000263955:S12L;ENSP00000386853:S12L;ENSP00000399755:S12L	ENSP00000263955:S12L	S	-	2	0	STK17B	196736318	1.000000	0.71417	0.985000	0.45067	0.724000	0.41520	3.982000	0.56909	2.813000	0.96785	0.655000	0.94253	TCA		PASS	0.343	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			33	56	33	56	---	---	---	---
CDK15	65061	broad.mit.edu	37	2	202700390	202700390	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:202700390C>T	ENST00000374598.4	+	8	755	c.755C>T	c.(754-756)cCc>cTc	p.P252L	CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000450471.2_Missense_Mutation_p.P252L|CDK15_ENST00000434439.1_Missense_Mutation_p.P252L|CDK15_ENST00000260967.2_Missense_Mutation_p.P201L|CDK15_ENST00000410091.3_Missense_Mutation_p.P201L			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)	p.P201L(1)		breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	AAGTCCATTCCCAGCCAGACA	0.527																																						uc002uyt.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|kidney(1)	5						c.(754-756)CCC>CTC		PFTAIRE protein kinase 2	Adenosine triphosphate(DB00171)						84.0	80.0	82.0					2																	202700390		2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202700390C>T	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.755C>T	2.37:g.202700390C>T	ENSP00000363726:p.Pro252Leu					CDK15_uc010ftm.2_Missense_Mutation_p.P117L|CDK15_uc002uys.2_Missense_Mutation_p.P201L|CDK15_uc010ftn.1_Missense_Mutation_p.P201L|CDK15_uc010fto.1_Missense_Mutation_p.P231L	p.P252L	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN			8	804	+			252			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.755C>T		.	.	.	.	.	.	.	.	.	.	C	18.27	3.587412	0.66105	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.58	4.71	0.59529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.187337	0.47852	N	0.000211	T	0.66499	0.2795	M	0.77103	2.36	0.80722	D	1	B;B;B	0.16396	0.017;0.013;0.01	B;B;B	0.26202	0.067;0.023;0.014	T	0.67879	-0.5556	10	0.87932	D	0	-3.3318	15.1305	0.72520	0.0:0.9315:0.0:0.0685	.	231;252;252	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	L	201;201;252;252;252	ENSP00000386901:P201L;ENSP00000260967:P201L;ENSP00000406472:P252L;ENSP00000412775:P252L;ENSP00000363726:P252L	ENSP00000260967:P201L	P	+	2	0	CDK15	202408635	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.939000	0.70179	1.509000	0.48786	0.551000	0.68910	CCC		PASS	0.527	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			14	54	14	54	---	---	---	---
STK36	27148	broad.mit.edu	37	2	219545378	219545378	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:219545378G>A	ENST00000295709.3	+	10	1468	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	STK36_ENST00000440309.1_Missense_Mutation_p.E397K|STK36_ENST00000392105.3_Missense_Mutation_p.E397K|STK36_ENST00000392106.2_Missense_Mutation_p.E397K	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.E397K(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGAGAGGCCAGAGGTGCTGGG	0.542																																						uc002viu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	11						c.(1189-1191)GAG>AAG		serine/threonine kinase 36							66.0	74.0	71.0					2																	219545378		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219545378G>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1189G>A	2.37:g.219545378G>A	ENSP00000295709:p.Glu397Lys					STK36_uc002viv.2_Missense_Mutation_p.E397K	p.E397K	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	10	1455	+		Renal(207;0.0915)	397						Missense_Mutation	SNP	ENST00000295709.3	37	c.1189G>A	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290118	0.59976	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.71461	-0.33;-0.33;-0.57;-0.33	5.03	5.03	0.67393	.	0.178262	0.26773	N	0.022567	T	0.66954	0.2842	L	0.29908	0.895	0.27208	N	0.959999	D;D	0.58620	0.96;0.983	P;P	0.52514	0.669;0.701	T	0.62353	-0.6872	10	0.49607	T	0.09	-8.3384	10.8202	0.46599	0.0872:0.0:0.9128:0.0	.	397;397	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	K	397	ENSP00000295709:E397K;ENSP00000375955:E397K;ENSP00000375954:E397K;ENSP00000394095:E397K	ENSP00000295709:E397K	E	+	1	0	STK36	219253622	0.998000	0.40836	0.714000	0.30535	0.273000	0.26683	3.183000	0.50918	2.607000	0.88179	0.655000	0.94253	GAG		PASS	0.542	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			10	20	10	20	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225376190	225376190	+	Nonsense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:225376190G>C	ENST00000264414.4	-	6	1102	c.764C>G	c.(763-765)tCa>tGa	p.S255*	CUL3_ENST00000344951.4_Nonsense_Mutation_p.S189*|CUL3_ENST00000409777.1_Nonsense_Mutation_p.S231*|CUL3_ENST00000409096.1_Nonsense_Mutation_p.S231*|CUL3_ENST00000432260.2_5'Flank	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	255					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.S255*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCTTCCGTTGATTTGTCAAG	0.353																																						uc002vny.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(763-765)TCA>TGA		cullin 3							228.0	220.0	223.0					2																	225376190		2203	4300	6503	SO:0001587	stop_gained	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225376190G>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.764C>G	2.37:g.225376190G>C	ENSP00000264414:p.Ser255*					CUL3_uc010zls.1_Nonsense_Mutation_p.S189*|CUL3_uc010fwy.1_Nonsense_Mutation_p.S261*	p.S255*	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1148	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	255					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Nonsense_Mutation	SNP	ENST00000264414.4	37	c.764C>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	40	8.278361	0.98740	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	20.0626	0.97684	0.0:0.0:1.0:0.0	.	.	.	.	X	255;189;231;231	.	ENSP00000264414:S255X	S	-	2	0	CUL3	225084434	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.420000	0.97426	2.807000	0.96579	0.591000	0.81541	TCA		PASS	0.353	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			94	163	94	163	---	---	---	---
TSEN2	80746	broad.mit.edu	37	3	12545158	12545158	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:12545158C>T	ENST00000284995.6	+	5	1093	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	TSEN2_ENST00000454502.2_Missense_Mutation_p.H177Y|TSEN2_ENST00000314571.7_Missense_Mutation_p.H236Y|TSEN2_ENST00000444864.1_Missense_Mutation_p.H236Y|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000415684.1_Missense_Mutation_p.H236Y|TSEN2_ENST00000402228.3_Missense_Mutation_p.H236Y|TSEN2_ENST00000383797.5_Missense_Mutation_p.H236Y	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	236					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.H236Y(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TGGCCTTCATCATGAAGACGG	0.577																																						uc003bxc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(706-708)CAT>TAT		tRNA-intron nuclease 2 isoform 1							47.0	42.0	44.0					3																	12545158		2203	4300	6503	SO:0001583	missense	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12545158C>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.706C>T	3.37:g.12545158C>T	ENSP00000284995:p.His236Tyr					TSEN2_uc003bwy.2_Missense_Mutation_p.H236Y|TSEN2_uc003bwz.2_Missense_Mutation_p.H177Y|TSEN2_uc003bxa.2_Missense_Mutation_p.H236Y|TSEN2_uc011auq.1_Missense_Mutation_p.H236Y|TSEN2_uc003bxb.2_Missense_Mutation_p.H236Y|TSEN2_uc011aur.1_Missense_Mutation_p.H145Y	p.H236Y	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN			5	1093	+			236					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Missense_Mutation	SNP	ENST00000284995.6	37	c.706C>T	CCDS2611.1	.	.	.	.	.	.	.	.	.	.	C	9.186	1.024925	0.19433	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	T;T;T;T;T;T;T;T	0.55052	0.56;0.55;0.54;0.56;0.56;0.56;0.55;0.55	4.77	4.77	0.60923	.	0.823985	0.10922	N	0.619388	T	0.26448	0.0646	N	0.08118	0	0.09310	N	1	P;B;P;B	0.41008	0.735;0.328;0.61;0.327	B;B;B;B	0.26693	0.072;0.022;0.05;0.022	T	0.01839	-1.1263	10	0.12103	T	0.63	-1.1817	13.3003	0.60321	0.0:1.0:0.0:0.0	.	236;236;236;177	G5E9Q3;Q8NCE0;Q8NCE0-3;C9IZI7	.;SEN2_HUMAN;.;.	Y	236;236;177;236;236;236;236;209;236	ENSP00000406238:H236Y;ENSP00000323188:H236Y;ENSP00000392029:H177Y;ENSP00000373307:H236Y;ENSP00000385976:H236Y;ENSP00000284995:H236Y;ENSP00000407974:H236Y;ENSP00000416510:H236Y	ENSP00000284995:H236Y	H	+	1	0	TSEN2	12520158	0.003000	0.15002	0.005000	0.12908	0.003000	0.03518	1.544000	0.36158	2.163000	0.67991	0.609000	0.83330	CAT		PASS	0.577	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		18	14	18	14	---	---	---	---
TMEM43	79188	broad.mit.edu	37	3	14170986	14170986	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:14170986G>A	ENST00000306077.4	+	2	341	c.87G>A	c.(85-87)ctG>ctA	p.L29L		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	29					nuclear membrane organization (GO:0071763)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L29L(2)		breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGGAACGGCTGAGCGAGACCT	0.493																																						uc003byk.2																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(1)	1						c.(85-87)CTG>CTA		transmembrane protein 43							103.0	101.0	101.0					3																	14170986		2203	4300	6503	SO:0001819	synonymous_variant	79188					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane		g.chr3:14170986G>A	BC008054	CCDS2618.1	3p25.1	2014-09-17			ENSG00000170876	ENSG00000170876			28472	protein-coding gene	gene with protein product		612048	"""arrhythmogenic right ventricular dysplasia 5"""	ARVD5		11230166, 18313022	Standard	NM_024334		Approved	MGC3222, DKFZp586G1919, LUMA	uc003byk.2	Q9BTV4	OTTHUMG00000129802	ENST00000306077.4:c.87G>A	3.37:g.14170986G>A						TMEM43_uc003byl.1_5'Flank	p.L29L	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN			2	341	+			29			Nuclear (Potential).		Q7L4N5|Q8NC30|Q96A63|Q96F19|Q96JX0|Q9H076	Silent	SNP	ENST00000306077.4	37	c.87G>A	CCDS2618.1																																																																																				PASS	0.493	TMEM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252030.2	NM_024334		29	58	29	58	---	---	---	---
EFHB	151651	broad.mit.edu	37	3	19938194	19938194	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:19938194G>A	ENST00000295824.9	-	9	1871	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Silent_p.F440F	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	570	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.F568F(1)|p.F570F(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CATAGTGCCTGAAGGCTGCCA	0.478																																						uc003cbl.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1708-1710)TTC>TTT		EF hand domain family, member B							111.0	102.0	105.0					3																	19938194		2203	4300	6503	SO:0001819	synonymous_variant	151651				signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr3:19938194G>A	AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1710C>T	3.37:g.19938194G>A						EFHB_uc003cbm.2_Silent_p.F440F	p.F570F	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN			9	1906	-			570			EF-hand 1.		A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Silent	SNP	ENST00000295824.9	37	c.1710C>T	CCDS33715.2																																																																																				PASS	0.478	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715		60	103	60	103	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49039978	49039978	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:49039978G>A	ENST00000383729.4	+	4	1044	c.673G>A	c.(673-675)Gag>Aag	p.E225K	P4HTM_ENST00000343546.4_Missense_Mutation_p.E225K	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	225	EF-hand 2.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.E225K(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GATGACTCCAGAGAGCATTCA	0.587																																						uc003cvg.2																			2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(673-675)GAG>AAG		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						206.0	188.0	194.0					3																	49039978		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49039978G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.673G>A	3.37:g.49039978G>A	ENSP00000373235:p.Glu225Lys					P4HTM_uc003cvh.2_Missense_Mutation_p.E225K|P4HTM_uc010hkm.1_Missense_Mutation_p.E111K	p.E225K	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			4	1022	+			225			Lumenal (Potential).|EF-hand 2.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.673G>A	CCDS43089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.642197|5.642197	0.96704|0.96704	.|.	.|.	ENSG00000178467|ENSG00000178467	ENST00000383729;ENST00000343546|ENST00000444213	T|.	0.80033|.	-1.33|.	5.76|5.76	5.76|5.76	0.90799|0.90799	EF-hand-like domain (1);Prolyl 4-hydroxylase, alpha subunit (1);|.	0.103055|.	0.64402|.	D|.	0.000003|.	T|T	0.59542|0.59542	0.2201|0.2201	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999993|0.999993	D;D;D|.	0.76494|.	0.999;0.998;0.988|.	D;D;P|.	0.78314|.	0.99;0.991;0.815|.	T|T	0.52011|0.52011	-0.8632|-0.8632	10|5	0.48119|.	T|.	0.1|.	-30.5722|-30.5722	19.9772|19.9772	0.97314|0.97314	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225;225;225|.	Q9NXG6-2;Q9NXG6-3;Q9NXG6|.	.;.;P4HTM_HUMAN|.	K|K	225|154	ENSP00000373235:E225K|.	ENSP00000341422:E225K|.	E|R	+|+	1|2	0|0	P4HTM|P4HTM	49014982|49014982	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.984000|0.984000	0.73092|0.73092	5.369000|5.369000	0.66138|0.66138	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GAG|AGA		PASS	0.587	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		65	117	65	117	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49043509	49043509	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:49043509G>A	ENST00000383729.4	+	8	1548	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000448293.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.D454N|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	393	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.D454N(1)|p.D393N(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TCTGATTCAGGATGACGTGGA	0.582																																						uc003cvg.2																			2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1177-1179)GAT>AAT		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						105.0	100.0	102.0					3																	49043509		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043509G>A		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1177G>A	3.37:g.49043509G>A	ENSP00000373235:p.Asp393Asn					P4HTM_uc003cvh.2_Missense_Mutation_p.D454N|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.D393N	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			8	1526	+			393			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1177G>A	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743287	0.30865	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.76060	-0.99	5.85	4.87	0.63330	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.204930	0.50627	D	0.000118	T	0.43055	0.1230	N	0.02802	-0.49	0.33078	D	0.53622	B;B	0.21452	0.056;0.005	B;B	0.16722	0.016;0.01	T	0.48790	-0.9004	10	0.16420	T	0.52	-13.7619	3.8595	0.08990	0.3234:0.0:0.6766:0.0	.	454;393	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	N	393;454	ENSP00000373235:D393N	ENSP00000341422:D454N	D	+	1	0	P4HTM	49018513	1.000000	0.71417	0.991000	0.47740	0.952000	0.60782	1.838000	0.39211	2.767000	0.95098	0.655000	0.94253	GAT		PASS	0.582	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		75	114	75	114	---	---	---	---
P4HTM	54681	broad.mit.edu	37	3	49043512	49043512	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:49043512G>T	ENST00000383729.4	+	8	1551	c.1180G>T	c.(1180-1182)Gac>Tac	p.D394Y	WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|WDR6_ENST00000448293.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.D455Y|WDR6_ENST00000395474.3_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	394	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.D394Y(1)|p.D455Y(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GATTCAGGATGACGTGGACCT	0.582																																						uc003cvg.2																			2	Substitution - Missense(2)		lung(2)	skin(1)|pancreas(1)	2						c.(1180-1182)GAC>TAC		hypoxia-inducible factor prolyl 4-hydroxylase	Vitamin C(DB00126)						105.0	99.0	101.0					3																	49043512		2203	4300	6503	SO:0001583	missense	54681					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr3:49043512G>T		CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1180G>T	3.37:g.49043512G>T	ENSP00000373235:p.Asp394Tyr					P4HTM_uc003cvh.2_Missense_Mutation_p.D455Y|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	p.D394Y	NM_177939	NP_808808	Q9NXG6	P4HTM_HUMAN			8	1529	+			394			Lumenal (Potential).|Fe2OG dioxygenase.		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	ENST00000383729.4	37	c.1180G>T	CCDS43089.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302254	0.60195	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.79247	-1.25	5.85	2.08	0.27032	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.147704	0.64402	D	0.000014	D	0.82802	0.5116	L	0.58583	1.82	0.30864	N	0.733229	D;D	0.67145	0.996;0.957	D;P	0.68039	0.955;0.853	T	0.80772	-0.1233	10	0.49607	T	0.09	-9.4508	10.9676	0.47421	0.2488:0.0:0.7512:0.0	.	455;394	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	Y	394;455	ENSP00000373235:D394Y	ENSP00000341422:D455Y	D	+	1	0	P4HTM	49018516	0.887000	0.30362	0.150000	0.22450	0.921000	0.55340	3.458000	0.53014	0.098000	0.17522	-0.137000	0.14449	GAC		PASS	0.582	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157211.1	NM_177938		73	112	73	112	---	---	---	---
ITIH3	3699	broad.mit.edu	37	3	52830560	52830560	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:52830560C>T	ENST00000449956.2	+	3	184	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	ITIH3_ENST00000416872.2_Missense_Mutation_p.H60Y	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	60	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.H60Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCGTTTTGCTCACAATGTTGT	0.542																																						uc003dfv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)	3						c.(178-180)CAC>TAC		inter-alpha (globulin) inhibitor H3							95.0	101.0	99.0					3																	52830560		2095	4254	6349	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52830560C>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.178C>T	3.37:g.52830560C>T	ENSP00000415769:p.His60Tyr					ITIH3_uc011bek.1_Missense_Mutation_p.H60Y	p.H60Y	NM_002217	NP_002208	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	3	214	+			60			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.178C>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623986	0.87560	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.23950	1.88;1.88	4.54	4.54	0.55810	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.053937	0.64402	D	0.000001	T	0.49321	0.1550	M	0.73962	2.25	0.45366	D	0.998351	D;D	0.76494	0.997;0.999	D;D	0.75020	0.939;0.985	T	0.47674	-0.9099	10	0.42905	T	0.14	-26.5968	14.3115	0.66419	0.0:1.0:0.0:0.0	.	60;60	E7ET33;Q06033	.;ITIH3_HUMAN	Y	60;60;55;60;60	ENSP00000413922:H60Y;ENSP00000415769:H60Y	ENSP00000273291:H55Y	H	+	1	0	ITIH3	52805600	0.981000	0.34729	1.000000	0.80357	0.963000	0.63663	2.713000	0.47194	2.371000	0.80710	0.591000	0.81541	CAC		PASS	0.542	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		14	24	14	24	---	---	---	---
FAM208A	23272	broad.mit.edu	37	3	56681054	56681054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:56681054G>A	ENST00000493960.2	-	14	1721	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.R571*|FAM208A_ENST00000431842.2_Nonsense_Mutation_p.R175*	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	571							poly(A) RNA binding (GO:0044822)	p.R571*(1)|p.R175*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						ATAAACTCTCGTTTACCTGAA	0.313																																						uc003did.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1711-1713)CGA>TGA		retinoblastoma-associated protein 140 isoform b							39.0	43.0	42.0					3																	56681054		2197	4297	6494	SO:0001587	stop_gained	23272							g.chr3:56681054G>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1711C>T	3.37:g.56681054G>A	ENSP00000417509:p.Arg571*					C3orf63_uc003dic.3_Nonsense_Mutation_p.R175*|C3orf63_uc003die.3_Nonsense_Mutation_p.R571*	p.R571*	NM_015224	NP_056039	Q9UK61	CC063_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)	14	1812	-			571					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Nonsense_Mutation	SNP	ENST00000493960.2	37	c.1711C>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	G	39	7.629305	0.98399	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	.	.	.	5.38	5.38	0.77491	.	0.251133	0.28624	N	0.014683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6327	6.1134	0.20114	0.1237:0.1795:0.6967:0.0	.	.	.	.	X	175;571;571	.	ENSP00000347845:R571X	R	-	1	2	C3orf63	56656094	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.248000	0.32827	2.793000	0.96121	0.655000	0.94253	CGA		PASS	0.313	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		40	61	40	61	---	---	---	---
UBA3	9039	broad.mit.edu	37	3	69105003	69105003	+	Splice_Site	SNP	T	T	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:69105003T>A	ENST00000361055.4	-	17	1356	c.1302A>T	c.(1300-1302)aaA>aaT	p.K434N	UBA3_ENST00000415609.2_Splice_Site_p.K393N|UBA3_ENST00000540295.1_Splice_Site_p.K257N|UBA3_ENST00000349511.4_Splice_Site_p.K420N|CTD-2013N24.2_ENST00000595925.1_RNA	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	434	Interaction with UBE2M core domain.				cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)	p.K434N(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		GTAAAATACCTTTCAATGTTT	0.303																																						uc003dno.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1300-1302)AAA>AAT		ubiquitin-activating enzyme 3 isoform 1							129.0	142.0	138.0					3																	69105003		2203	4296	6499	SO:0001630	splice_region_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69105003T>A	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1303+1A>T	3.37:g.69105003T>A						UBA3_uc003dnq.2_Missense_Mutation_p.K420N|UBA3_uc011bfy.1_Missense_Mutation_p.K257N|UBA3_uc011bfz.1_Missense_Mutation_p.K257N	p.K434N	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	17	1322	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	434			Interaction with UBE2M core domain.		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	ENST00000361055.4	37	c.1302A>T	CCDS2909.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.078395	0.36662	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.85	5.85	0.93711	E2 binding (1);Molybdenum cofactor biosynthesis, MoeB (1);	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.59436	1.845	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15870	0.008;0.014	T	0.06991	-1.0796	10	0.24483	T	0.36	-16.3889	16.2378	0.82389	0.0:0.0:0.0:1.0	.	420;434	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	N	393;434;420;257	ENSP00000400294:K393N;ENSP00000354340:K434N;ENSP00000340041:K420N;ENSP00000440085:K257N	ENSP00000340041:K420N	K	-	3	2	UBA3	69187693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.406000	0.52637	2.228000	0.72767	0.528000	0.53228	AAA		PASS	0.303	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195	Missense_Mutation	30	146	30	146	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77617511	77617511	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:77617511G>C	ENST00000461745.1	+	13	2797	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E649Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.E633Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	633					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.E633Q(1)|p.E649Q(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTGCAGAAAGAGCTAGGAGA	0.438																																						uc003dpy.3																			2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1897-1899)GAG>CAG		roundabout, axon guidance receptor, homolog 2							111.0	113.0	112.0					3																	77617511		2074	4215	6289	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77617511G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1897G>C	3.37:g.77617511G>C	ENSP00000417164:p.Glu633Gln					ROBO2_uc003dpz.2_Missense_Mutation_p.E637Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E637Q	p.E633Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	13	2540	+			633			Extracellular (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1897G>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336323	0.60963	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.63417	-0.04;-0.0;-0.0	5.3	5.3	0.74995	Fibronectin, type III (1);	0.000000	0.46758	D	0.000278	T	0.66925	0.2839	L	0.45137	1.4	0.40405	D	0.979685	P;P;P	0.45531	0.702;0.86;0.702	B;P;B	0.51324	0.397;0.666;0.397	T	0.62343	-0.6874	9	0.30854	T	0.27	.	19.3194	0.94231	0.0:0.0:1.0:0.0	.	649;633;633	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	Q	649;649;653;633;633;354	ENSP00000417335:E649Q;ENSP00000417164:E633Q;ENSP00000327536:E633Q	ENSP00000327536:E633Q	E	+	1	0	ROBO2	77700201	1.000000	0.71417	0.953000	0.39169	0.489000	0.33432	9.743000	0.98849	2.646000	0.89796	0.650000	0.86243	GAG		PASS	0.438	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	135	7	135	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78684989	78684989	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:78684989C>T	ENST00000464233.1	-	23	3420	c.3307G>A	c.(3307-3309)Gga>Aga	p.G1103R	ROBO1_ENST00000436010.2_Missense_Mutation_p.G1064R|ROBO1_ENST00000495273.1_Missense_Mutation_p.G1058R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1003R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1103					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.G1058R(1)|p.G1103R(1)|p.G1080R(1)|p.G1107R(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTCTGCTGTCCCAGTGGTTTC	0.502																																						uc003dqe.2																			4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(3307-3309)GGA>AGA		roundabout 1 isoform a							188.0	182.0	184.0					3																	78684989		2127	4248	6375	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78684989C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.3307G>A	3.37:g.78684989C>T	ENSP00000420321:p.Gly1103Arg					ROBO1_uc003dqb.2_Missense_Mutation_p.G1064R|ROBO1_uc003dqc.2_Missense_Mutation_p.G1003R|ROBO1_uc003dqd.2_Missense_Mutation_p.G1058R|ROBO1_uc010hoh.2_Missense_Mutation_p.G295R|ROBO1_uc011bgl.1_Missense_Mutation_p.G675R	p.G1103R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	23	3515	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1103			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.3307G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	1.379	-0.583843	0.03827	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	6.05	5.08	0.68730	.	0.396131	0.29956	N	0.010779	T	0.70850	0.3271	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.25904	0.032;0.002;0.035;0.112;0.137	B;B;B;B;B	0.31101	0.037;0.007;0.023;0.032;0.124	T	0.56098	-0.8035	9	.	.	.	.	8.5687	0.33556	0.1534:0.7486:0.0:0.0981	.	1067;1103;1058;1003;1064	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	1064;1058;1103;1058;1003;1107	ENSP00000406043:G1064R;ENSP00000420321:G1103R;ENSP00000420637:G1058R;ENSP00000417992:G1003R	.	G	-	1	0	ROBO1	78767679	0.060000	0.20803	0.177000	0.23020	0.130000	0.20726	2.139000	0.42149	2.866000	0.98385	0.650000	0.86243	GGA		PASS	0.502	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		28	160	28	160	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102175056	102175057	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:102175056_102175057TC>AG	ENST00000491959.1	+	11	1229_1230	c.347_348TC>AG	c.(346-348)gTC>gAG	p.V116E	ZPLD1_ENST00000466937.1_Missense_Mutation_p.V116E|ZPLD1_ENST00000306176.1_Missense_Mutation_p.V132E			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	116	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.V132E(1)|p.V132D(1)|p.V132V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ATTCCTGGAGTCAGTGCTTATG	0.361																																						uc003dvs.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(346-348)GTC>GAC|c.(346-348)GTC>GTG		zona pellucida-like domain containing 1																																				SO:0001583	missense	131368					integral to membrane		g.chr3:102175056T>A|g.chr3:102175057C>G	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	Exception_encountered	3.37:g.102175056_102175057delinsAG	ENSP00000420265:p.Val116Glu					ZPLD1_uc003dvt.1_Missense_Mutation_p.V132D|ZPLD1_uc011bhg.1_Missense_Mutation_p.V116D|ZPLD1_uc003dvt.1_Silent_p.V132V|ZPLD1_uc011bhg.1_Silent_p.V116V	p.V116D|p.V116V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			11	1229|1230	+			116			ZP.|Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation|Silent	SNP	ENST00000491959.1	37	c.347T>A|c.348C>G																																																																																					PASS	0.361	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		23|24	119|123	23	119	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108403129	108403129	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:108403129C>G	ENST00000361582.3	+	27	3180	c.2950C>G	c.(2950-2952)Caa>Gaa	p.Q984E	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q984E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	984					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q984E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TACTGTTCCTCAAATGCCTGC	0.393																																						uc003dxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2950-2952)CAA>GAA		DAZ interacting protein 3, zinc finger							161.0	184.0	176.0					3																	108403129		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108403129C>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2950C>G	3.37:g.108403129C>G	ENSP00000355028:p.Gln984Glu					DZIP3_uc003dxf.1_Missense_Mutation_p.Q984E|DZIP3_uc011bhm.1_Missense_Mutation_p.Q435E	p.Q984E	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			27	3372	+			984					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2950C>G	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786449	0.49997	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.18338	2.22;2.22	5.35	5.35	0.76521	.	0.304042	0.24267	N	0.040036	T	0.16981	0.0408	L	0.47716	1.5	0.32098	N	0.590928	B;B	0.29037	0.231;0.018	B;B	0.32211	0.142;0.01	T	0.07751	-1.0756	10	0.13108	T	0.6	-0.4732	14.4364	0.67284	0.0:1.0:0.0:0.0	.	602;984	D3DN61;Q86Y13	.;DZIP3_HUMAN	E	984	ENSP00000355028:Q984E;ENSP00000419981:Q984E	ENSP00000355028:Q984E	Q	+	1	0	DZIP3	109885819	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.347000	0.52200	2.789000	0.95967	0.655000	0.94253	CAA		PASS	0.393	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		168	245	168	245	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113135402	113135402	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:113135402G>A	ENST00000295868.2	-	6	805	c.643C>T	c.(643-645)Cct>Tct	p.P215S	WDR52-AS1_ENST00000473329.1_RNA|WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.P215S	NM_018338.3	NP_060808.2												p.P215S(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTCAGAGAAGGATATTCATAG	0.333																																						uc003eae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(643-645)CCT>TCT		WD repeat domain 52 isoform 2							56.0	57.0	57.0					3																	113135402		2203	4298	6501	SO:0001583	missense	55779							g.chr3:113135402G>A																												ENST00000295868.2:c.643C>T	3.37:g.113135402G>A	ENSP00000295868:p.Pro215Ser						p.P215S	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			6	689	-			215						Missense_Mutation	SNP	ENST00000295868.2	37	c.643C>T	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502480	0.85176	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.06294	5.11;3.32	4.87	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.31513	0.0799	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.12192	-1.0557	9	0.62326	D	0.03	.	18.5542	0.91077	0.0:0.0:1.0:0.0	.	215	Q96MT7	WDR52_HUMAN	S	215	ENSP00000377428:P215S;ENSP00000295868:P215S	ENSP00000295868:P215S	P	-	1	0	WDR52	114618092	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.358000	0.90090	2.680000	0.91292	0.557000	0.71058	CCT		PASS	0.333	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			16	36	16	36	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113378598	113378598	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:113378598G>A	ENST00000478658.1	-	5	1948	c.1931C>T	c.(1930-1932)tCa>tTa	p.S644L	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.S644L			Q68DE3	K2018_HUMAN	KIAA2018	644						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.S644L(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GTTAGACGCTGATAAAGATGA	0.393																																						uc003eam.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1930-1932)TCA>TTA		hypothetical protein LOC205717							195.0	186.0	189.0					3																	113378598		1902	4122	6024	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378598G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1931C>T	3.37:g.113378598G>A	ENSP00000420721:p.Ser644Leu					KIAA2018_uc003eal.2_Missense_Mutation_p.S588L	p.S644L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	2342	-			644					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1931C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	8.637	0.895143	0.17613	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.15256	2.44;2.44	5.27	5.27	0.74061	.	0.252983	0.34133	N	0.004233	T	0.10637	0.0260	N	0.14661	0.345	0.36286	D	0.856109	P	0.39282	0.666	B	0.37508	0.252	T	0.27571	-1.0070	10	0.32370	T	0.25	-11.8413	12.267	0.54684	0.0779:0.0:0.9221:0.0	.	644	Q68DE3	K2018_HUMAN	L	644	ENSP00000320794:S644L;ENSP00000420721:S644L	ENSP00000320794:S644L	S	-	2	0	KIAA2018	114861288	1.000000	0.71417	0.976000	0.42696	0.419000	0.31324	5.636000	0.67848	2.449000	0.82847	0.650000	0.86243	TCA		PASS	0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		88	118	88	118	---	---	---	---
ZBTB20	26137	broad.mit.edu	37	3	114070442	114070442	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:114070442G>A	ENST00000474710.1	-	4	661	c.483C>T	c.(481-483)ggC>ggT	p.G161G	ZBTB20_ENST00000393785.2_Silent_p.G88G|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000357258.3_Silent_p.G88G|ZBTB20_ENST00000464560.1_Silent_p.G88G|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Silent_p.G88G|ZBTB20_ENST00000471418.1_Silent_p.G88G|ZBTB20_ENST00000462705.1_Silent_p.G88G|ZBTB20-AS1_ENST00000475939.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	161	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.G88G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CCCGTAGCACGCCGCTGTACA	0.567																																					NSCLC(69;748 1344 9802 11203 30933)	uc003ebi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(481-483)GGC>GGT		zinc finger and BTB domain containing 20 isoform							83.0	71.0	75.0					3																	114070442		2203	4300	6503	SO:0001819	synonymous_variant	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070442G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.483C>T	3.37:g.114070442G>A						ZBTB20_uc003ebj.2_Silent_p.G88G|ZBTB20_uc010hqp.2_Silent_p.G88G|ZBTB20_uc003ebk.2_Silent_p.G88G|ZBTB20_uc003ebl.2_Silent_p.G88G|ZBTB20_uc003ebm.2_Silent_p.G88G|ZBTB20_uc003ebn.2_Silent_p.G88G|uc003ebo.1_5'Flank	p.G161G	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	4	663	-			161			BTB.		Q63HP6|Q8N6R5|Q9Y410	Silent	SNP	ENST00000474710.1	37	c.483C>T	CCDS54626.1																																																																																				PASS	0.567	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		27	51	27	51	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122269520	122269520	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:122269520C>G	ENST00000360356.2	-	6	1569	c.1342G>C	c.(1342-1344)Gat>Cat	p.D448H	PARP9_ENST00000477522.2_Missense_Mutation_p.D413H|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.D413H|PARP9_ENST00000462315.1_Missense_Mutation_p.D413H	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	448	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D448H(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAAACTTCATCAAACAAAATC	0.338																																						uc010hri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1342-1344)GAT>CAT		poly (ADP-ribose) polymerase family, member 9							113.0	111.0	112.0					3																	122269520		2203	4300	6503	SO:0001583	missense	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122269520C>G	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.1342G>C	3.37:g.122269520C>G	ENSP00000353512:p.Asp448His					PARP9_uc003eff.3_Missense_Mutation_p.D413H|PARP9_uc011bjs.1_Missense_Mutation_p.D413H|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.D413H|PARP9_uc003efh.2_Missense_Mutation_p.D448H|PARP9_uc003efj.2_Missense_Mutation_p.D413H	p.D448H	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	6	1487	-			448			Macro 2.		A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Missense_Mutation	SNP	ENST00000360356.2	37	c.1342G>C	CCDS3014.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395525	0.62066	.	.	ENSG00000138496	ENST00000360356;ENST00000477522;ENST00000471785;ENST00000452457;ENST00000462315	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	4.26	0.323	0.15893	Appr-1-p processing (1);	1.571740	0.03209	N	0.175905	T	0.39963	0.1098	L	0.58810	1.83	0.09310	N	0.999996	B;P;D	0.54397	0.099;0.93;0.966	B;P;P	0.53809	0.04;0.533;0.735	T	0.34030	-0.9845	10	0.62326	D	0.03	.	8.9006	0.35493	0.0:0.6349:0.0:0.3651	.	413;448;413	E9PFM7;Q8IXQ6;Q8IXQ6-2	.;PARP9_HUMAN;.	H	448;413;413;371;413	ENSP00000353512:D448H;ENSP00000419506:D413H;ENSP00000419001:D413H;ENSP00000418894:D413H	ENSP00000353512:D448H	D	-	1	0	PARP9	123752210	0.001000	0.12720	0.895000	0.35142	0.361000	0.29550	0.311000	0.19380	0.173000	0.19788	0.655000	0.94253	GAT		PASS	0.338	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		81	94	81	94	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123376143	123376143	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:123376143G>A	ENST00000475616.1	-	21	4117	c.4118C>T	c.(4117-4119)tCa>tTa	p.S1373L	MYLK_ENST00000346322.5_Missense_Mutation_p.S1304L|MYLK_ENST00000360304.3_Missense_Mutation_p.S1373L|MYLK_ENST00000354792.5_Missense_Mutation_p.S173L|MYLK_ENST00000360772.3_Missense_Mutation_p.S1373L|MYLK_ENST00000359169.1_Missense_Mutation_p.S1373L			Q15746	MYLK_HUMAN	myosin light chain kinase	1373	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.S1373L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTGTTGGCTGAGTCCCAGAT	0.552																																						uc003ego.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|stomach(1)	9						c.(4117-4119)TCA>TTA		myosin light chain kinase isoform 1							168.0	142.0	151.0					3																	123376143		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123376143G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4118C>T	3.37:g.123376143G>A	ENSP00000418335:p.Ser1373Leu					MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.S173L|MYLK_uc011bjw.1_Missense_Mutation_p.S1373L|MYLK_uc003egp.2_Missense_Mutation_p.S1304L|MYLK_uc003egq.2_Missense_Mutation_p.S1373L|MYLK_uc003egr.2_Missense_Mutation_p.S1304L|MYLK_uc003egs.2_Missense_Mutation_p.S1197L	p.S1373L	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	24	4400	-		Lung NSC(201;0.0496)	1373			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4118C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552448	0.86127	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.65	5.65	0.86999	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56455	0.1986	L	0.41906	1.305	0.45607	D	0.998545	P;P;P;P;P	0.52061	0.743;0.95;0.837;0.915;0.784	P;P;P;P;P	0.50378	0.506;0.544;0.628;0.544;0.639	T	0.48625	-0.9019	9	0.31617	T	0.26	.	20.0746	0.97737	0.0:0.0:1.0:0.0	.	1373;1304;1373;1304;1373	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	L	1373;1373;1373;1304;173;1373;173	ENSP00000354004:S1373L;ENSP00000353452:S1373L;ENSP00000352088:S1373L;ENSP00000320622:S1304L;ENSP00000346846:S173L;ENSP00000418335:S1373L;ENSP00000422984:S173L	ENSP00000320622:S1304L	S	-	2	0	MYLK	124858833	1.000000	0.71417	0.965000	0.40720	0.731000	0.41821	5.458000	0.66679	2.822000	0.97130	0.655000	0.94253	TCA		PASS	0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		20	137	20	137	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129226555	129226555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:129226555C>T	ENST00000348417.2	+	23	2913	c.2836C>T	c.(2836-2838)Cag>Tag	p.Q946*	IFT122_ENST00000507564.1_Nonsense_Mutation_p.Q939*|IFT122_ENST00000440957.2_Nonsense_Mutation_p.Q737*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Q796*|IFT122_ENST00000296266.3_Nonsense_Mutation_p.Q997*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.Q887*|IFT122_ENST00000349441.2_Nonsense_Mutation_p.Q836*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.Q823*	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	946					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.Q997*(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTACCACTTCCAGCGTTTGGC	0.572																																						uc003emm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2836-2838)CAG>TAG		WD repeat domain 10 isoform 2							226.0	182.0	197.0					3																	129226555		2203	4300	6503	SO:0001587	stop_gained	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129226555C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2836C>T	3.37:g.129226555C>T	ENSP00000324005:p.Gln946*					IFT122_uc003eml.2_Nonsense_Mutation_p.Q997*|IFT122_uc003emn.2_Nonsense_Mutation_p.Q887*|IFT122_uc003emo.2_Nonsense_Mutation_p.Q836*|IFT122_uc003emp.2_Nonsense_Mutation_p.Q796*|IFT122_uc010htc.2_Nonsense_Mutation_p.Q939*|IFT122_uc011bky.1_Nonsense_Mutation_p.Q737*|IFT122_uc003emq.2_Nonsense_Mutation_p.Q786*|IFT122_uc003emr.2_Nonsense_Mutation_p.Q699*|IFT122_uc011bla.1_Nonsense_Mutation_p.Q720*|IFT122_uc010hte.2_Nonsense_Mutation_p.Q272*|IFT122_uc003ems.2_Nonsense_Mutation_p.Q328*|IFT122_uc011bkx.1_Nonsense_Mutation_p.Q787*|IFT122_uc010htd.1_Nonsense_Mutation_p.Q425*	p.Q946*	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			23	3042	+			946					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	ENST00000348417.2	37	c.2836C>T	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	C	41	8.640369	0.98897	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-27.0967	19.6195	0.95650	0.0:1.0:0.0:0.0	.	.	.	.	X	887;997;939;887;796;823;836;946;787;737	.	ENSP00000296266:Q997X	Q	+	1	0	IFT122	130709245	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.998000	0.76277	2.633000	0.89246	0.561000	0.74099	CAG		PASS	0.572	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		113	123	113	123	---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131261514	131261514	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:131261514C>T	ENST00000512055.1	-	19	3552	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	CPNE4_ENST00000502818.1_Missense_Mutation_p.D494N|CPNE4_ENST00000511604.1_Missense_Mutation_p.D476N|CPNE4_ENST00000512332.1_Missense_Mutation_p.D494N|CPNE4_ENST00000429747.1_Missense_Mutation_p.D476N			Q96A23	CPNE4_HUMAN	copine IV	476	VWFA.					extracellular vesicular exosome (GO:0070062)		p.D476N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCACTGAAGTCAGCGTTCCCT	0.562																																						uc003eok.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1426-1428)GAC>AAC		copine IV							177.0	148.0	158.0					3																	131261514		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131261514C>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1426G>A	3.37:g.131261514C>T	ENSP00000421705:p.Asp476Asn					CPNE4_uc011blq.1_Missense_Mutation_p.D494N|CPNE4_uc003eol.2_Missense_Mutation_p.D494N|CPNE4_uc003eom.2_Missense_Mutation_p.D476N|CPNE4_uc003eoj.2_Missense_Mutation_p.D27N	p.D476N	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			15	1861	-			476			VWFA.		D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.1426G>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356125	0.95854	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	5.58	5.58	0.84498	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.72353	2.195	0.80722	D	1	D;P	0.89917	1.0;0.928	D;P	0.78314	0.991;0.609	T	0.54302	-0.8314	10	0.72032	D	0.01	-31.1945	19.5825	0.95473	0.0:1.0:0.0:0.0	.	494;476	Q96A23-2;Q96A23	.;CPNE4_HUMAN	N	476;476;494;476;494	ENSP00000421705:D476N;ENSP00000411904:D476N;ENSP00000424853:D494N;ENSP00000423811:D476N;ENSP00000421646:D494N	ENSP00000411904:D476N	D	-	1	0	CPNE4	132744204	1.000000	0.71417	0.977000	0.42913	0.880000	0.50808	7.797000	0.85911	2.624000	0.88883	0.655000	0.94253	GAC		PASS	0.562	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		37	149	37	149	---	---	---	---
RBP2	5948	broad.mit.edu	37	3	139173596	139173596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:139173596C>T	ENST00000232217.2	-	3	385	c.329G>A	c.(328-330)tGg>tAg	p.W110*	RP11-319G6.1_ENST00000510068.1_RNA|RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	110					epidermis development (GO:0008544)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|vitamin A metabolic process (GO:0006776)	cytosol (GO:0005829)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.W110*(1)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCCCTCAATCCACTGCTTCCA	0.532																																						uc003eth.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(328-330)TGG>TAG		retinol binding protein 2, cellular	Vitamin A(DB00162)						240.0	204.0	216.0					3																	139173596		2203	4300	6503	SO:0001587	stop_gained	5948				epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	g.chr3:139173596C>T	U13831	CCDS3109.1	3q23	2013-03-01	2001-11-28		ENSG00000114113	ENSG00000114113		"""Fatty acid binding protein family"""	9920	protein-coding gene	gene with protein product		180280	"""retinol-binding protein 2, cellular"""			7657783, 10072590	Standard	NM_004164		Approved	CRBP2, RBPC2, CRBPII, CRABP-II	uc003eth.3	P50120	OTTHUMG00000159956	ENST00000232217.2:c.329G>A	3.37:g.139173596C>T	ENSP00000232217:p.Trp110*						p.W110*	NM_004164	NP_004155	P50120	RET2_HUMAN			3	380	-			110					A8K7G3|Q6ISQ9|Q6ISS7	Nonsense_Mutation	SNP	ENST00000232217.2	37	c.329G>A	CCDS3109.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425985	0.62733	.	.	ENSG00000114113	ENST00000232217	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.6877	0.91571	0.0:1.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000232217:W110X	W	-	2	0	RBP2	140656286	1.000000	0.71417	0.997000	0.53966	0.754000	0.42855	7.689000	0.84165	2.477000	0.83638	0.563000	0.77884	TGG		PASS	0.532	RBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358490.1	NM_004164		121	169	121	169	---	---	---	---
TRPC1	7220	broad.mit.edu	37	3	142503613	142503613	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:142503613G>T	ENST00000476941.1	+	7	1514	c.1028G>T	c.(1027-1029)cGa>cTa	p.R343L	TRPC1_ENST00000273482.6_Missense_Mutation_p.R309L	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	343					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.R309L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCGGGTTACCGACGCAAGCCC	0.418																																						uc003evc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1027-1029)CGA>CTA		transient receptor potential cation channel,							128.0	117.0	121.0					3																	142503613		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142503613G>T	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1028G>T	3.37:g.142503613G>T	ENSP00000419313:p.Arg343Leu					TRPC1_uc003evb.2_Missense_Mutation_p.R309L	p.R343L	NM_003304	NP_003295	P48995	TRPC1_HUMAN			7	1164	+			343			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.1028G>T	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610598	0.87258	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.73897	-0.79;-0.79	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.85890	0.5802	M	0.71206	2.165	0.80722	D	1	D;D	0.60160	0.987;0.979	D;P	0.67725	0.953;0.872	D	0.86178	0.1604	10	0.66056	D	0.02	-17.5612	19.9576	0.97228	0.0:0.0:1.0:0.0	.	343;309	P48995;P48995-2	TRPC1_HUMAN;.	L	343;309	ENSP00000419313:R343L;ENSP00000273482:R309L	ENSP00000273482:R309L	R	+	2	0	TRPC1	143986303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.430000	0.97488	2.706000	0.92434	0.591000	0.81541	CGA		PASS	0.418	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		127	52	127	52	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150906168	150906168	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:150906168G>A	ENST00000474524.1	+	12	1692	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000273432.4_Missense_Mutation_p.E412K|MED12L_ENST00000309237.4_Missense_Mutation_p.E552K|MED12L_ENST00000422248.2_Missense_Mutation_p.E552K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	552						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.E552K(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTCTTAGATGAGAAGGAGTC	0.348																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1654-1656)GAG>AAG		mediator of RNA polymerase II transcription,							181.0	168.0	172.0					3																	150906168		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150906168G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1654G>A	3.37:g.150906168G>A	ENSP00000417235:p.Glu552Lys					MED12L_uc011bnz.1_Missense_Mutation_p.E412K|MED12L_uc003eyn.2_Missense_Mutation_p.E552K|MED12L_uc003eyo.2_Missense_Mutation_p.E552K	p.E552K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		12	1692	+			552					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1654G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631619	0.96682	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.48	5.48	0.80851	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.64638	0.2616	M	0.80616	2.505	0.58432	D	0.999999	D;D;D;D	0.69078	0.995;0.997;0.996;0.99	P;D;D;D	0.79108	0.774;0.992;0.987;0.979	T	0.68857	-0.5298	10	0.87932	D	0	-25.9029	18.9542	0.92653	0.0:0.0:1.0:0.0	.	412;552;552;552	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	K	552;552;552;412	ENSP00000403308:E552K;ENSP00000310760:E552K;ENSP00000417235:E552K;ENSP00000273432:E412K	ENSP00000273432:E412K	E	+	1	0	MED12L	152388858	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.657000	0.91106	2.572000	0.86782	0.650000	0.86243	GAG		PASS	0.348	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		53	188	53	188	---	---	---	---
KPNA4	3840	broad.mit.edu	37	3	160219934	160219934	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:160219934G>A	ENST00000334256.4	-	17	1829	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_002268.4	NP_002259.1	O00629	IMA3_HUMAN	karyopherin alpha 4 (importin alpha 3)	508					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)	p.F508F(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			CAGATGAATTGAAACCAAATG	0.348																																						uc003fdn.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1522-1524)TTC>TTT		karyopherin alpha 4							117.0	117.0	117.0					3																	160219934		2203	4300	6503	SO:0001819	synonymous_variant	3840				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr3:160219934G>A	AB002533	CCDS3191.1	3q25.33	2013-02-14			ENSG00000186432	ENSG00000186432		"""Importins"", ""Armadillo repeat containing"""	6397	protein-coding gene	gene with protein product		602970				9168958, 9395085	Standard	NM_002268		Approved	QIP1, SRP3, IPOA3, MGC12217, MGC26703	uc003fdn.3	O00629	OTTHUMG00000159033	ENST00000334256.4:c.1524C>T	3.37:g.160219934G>A							p.F508F	NM_002268	NP_002259	O00629	IMA4_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		17	1830	-			508					A8K4S6|D3DNM2|O00190	Silent	SNP	ENST00000334256.4	37	c.1524C>T	CCDS3191.1																																																																																				PASS	0.348	KPNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352960.1	NM_002268		88	399	88	399	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169546552	169546552	+	Silent	SNP	T	T	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:169546552T>C	ENST00000340806.6	+	2	1026	c.1026T>C	c.(1024-1026)ccT>ccC	p.P342P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	342								p.P342P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTAGTTACCTTCAGAATTGG	0.378																																						uc003fgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1024-1026)CCT>CCC		leucine-rich repeats and IQ motif containing 4							74.0	73.0	73.0					3																	169546552		1826	4099	5925	SO:0001819	synonymous_variant	344657							g.chr3:169546552T>C		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.1026T>C	3.37:g.169546552T>C							p.P342P	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			2	1026	+			342			LRR 14.			Silent	SNP	ENST00000340806.6	37	c.1026T>C	CCDS46951.1																																																																																				PASS	0.378	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		6	256	6	256	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			85	103	85	103	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		8	Substitution - Missense(8)	p.E726K(2)	lung(4)|large_intestine(2)|breast(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2176-2178)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							89.0	78.0	82.0					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178938934G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E726K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		14	2333	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		726					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2176G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA		PASS	0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			16	124	16	124	---	---	---	---
KLHL24	54800	broad.mit.edu	37	3	183382716	183382716	+	Silent	SNP	A	A	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:183382716A>G	ENST00000454652.2	+	6	1499	c.1113A>G	c.(1111-1113)agA>agG	p.R371R	KLHL24_ENST00000242810.6_Silent_p.R371R|KLHL24_ENST00000476808.1_Silent_p.R371R	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	371						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R371R(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AAGGTGGAAGAATCAACAGCC	0.403																																						uc003flv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1111-1113)AGA>AGG		DRE1 protein							140.0	141.0	140.0					3																	183382716		2203	4300	6503	SO:0001819	synonymous_variant	54800					axon|cytoplasm|perikaryon		g.chr3:183382716A>G		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1113A>G	3.37:g.183382716A>G						KLHL24_uc003flw.2_Silent_p.R371R|KLHL24_uc003flx.2_Silent_p.R371R	p.R371R	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		5	1408	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		371			Kelch 2.		A5PLN8|Q9H620|Q9NXT9	Silent	SNP	ENST00000454652.2	37	c.1113A>G	CCDS3246.1																																																																																				PASS	0.403	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		48	513	48	513	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183528294	183528294	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:183528294C>T	ENST00000305135.5	+	31	4387	c.4192C>T	c.(4192-4194)Cac>Tac	p.H1398Y	YEATS2-AS1_ENST00000609871.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA|YEATS2-AS1_ENST00000609195.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1398					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.H1398Y(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAGTAATATTCACCAGGCCAT	0.413																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(4192-4194)CAC>TAC		YEATS domain containing 2							94.0	86.0	88.0					3																	183528294		1905	4119	6024	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183528294C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.4192C>T	3.37:g.183528294C>T	ENSP00000306983:p.His1398Tyr						p.H1398Y	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		31	4387	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1398					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.4192C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483062	0.84747	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.25579	1.79	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.19844	-1.0293	10	0.49607	T	0.09	-15.2468	19.4129	0.94683	0.0:1.0:0.0:0.0	.	1398	Q9ULM3	YETS2_HUMAN	Y	1398	ENSP00000306983:H1398Y	ENSP00000306983:H1398Y	H	+	1	0	YEATS2	185010988	1.000000	0.71417	0.968000	0.41197	0.946000	0.59487	7.061000	0.76699	2.652000	0.90054	0.655000	0.94253	CAC		PASS	0.413	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		22	104	22	104	---	---	---	---
ECE2	9718	broad.mit.edu	37	3	184002858	184002858	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:184002858G>A	ENST00000402825.3	+	9	1467	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	ECE2_ENST00000404464.3_Silent_p.Q371Q|ECE2_ENST00000359140.4_Silent_p.Q342Q|ECE2_ENST00000357474.5_Silent_p.Q417Q|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	489	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.Q417Q(1)|p.Q342Q(1)|p.Q489Q(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTATTTGCAGCAGGTGTCAG	0.562											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003fni.3																			3	Substitution - coding silent(3)		lung(3)	ovary(2)|skin(2)	4						c.(1465-1467)CAG>CAA		endothelin converting enzyme 2 isoform A							129.0	122.0	124.0					3																	184002858		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184002858G>A	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1467G>A	3.37:g.184002858G>A			OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1988	ECE2_uc011brh.1_Silent_p.Q342Q|ECE2_uc003fnl.3_Silent_p.Q417Q|ECE2_uc003fnm.3_Silent_p.Q371Q|ECE2_uc003fnk.3_Silent_p.Q342Q|ECE2_uc011bri.1_Silent_p.Q404Q|ECE2_uc010hxv.2_Silent_p.Q133Q	p.Q489Q	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1505	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		489			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.1467G>A	CCDS3256.2																																																																																				PASS	0.562	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		12	389	12	389	---	---	---	---
XXYLT1	152002	broad.mit.edu	37	3	194991425	194991425	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr3:194991425C>T	ENST00000310380.6	-	1	471	c.363G>A	c.(361-363)gcG>gcA	p.A121A		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	121						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)	p.A121A(1)									GTGAGCGCAGCGCGACGCGGG	0.687																																						uc003fum.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)GCG>GCA		hypothetical protein LOC152002							10.0	11.0	10.0					3																	194991425		1852	3967	5819	SO:0001819	synonymous_variant	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991425C>T	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.363G>A	3.37:g.194991425C>T							p.A121A	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	1	471	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		121					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	ENST00000310380.6	37	c.363G>A	CCDS43188.1																																																																																				PASS	0.687	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		56	24	56	24	---	---	---	---
ZFYVE28	57732	broad.mit.edu	37	4	2306648	2306648	+	Silent	SNP	G	G	A	rs143269293		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:2306648G>A	ENST00000290974.2	-	8	1758	c.1419C>T	c.(1417-1419)ctC>ctT	p.L473L	ZFYVE28_ENST00000511071.1_Silent_p.L443L|ZFYVE28_ENST00000515312.1_Silent_p.L403L|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	473					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.L473L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGTGCCCGCGAGGCTGGCCC	0.682																																						uc003gex.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1417-1419)CTC>CTT		zinc finger, FYVE domain containing 28		G	,,	0,4344		0,0,2172	39.0	40.0	39.0		1329,1209,1419	0.8	0.0	4	dbSNP_134	39	1,8467		0,1,4233	no	coding-synonymous,coding-synonymous,coding-synonymous	ZFYVE28	NM_001172656.1,NM_001172659.1,NM_020972.2	,,	0,1,6405	AA,AG,GG		0.0118,0.0,0.0078	,,	443/858,403/818,473/888	2306648	1,12811	2172	4234	6406	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2306648G>A	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.1419C>T	4.37:g.2306648G>A						ZFYVE28_uc011bvk.1_Silent_p.L403L|ZFYVE28_uc011bvl.1_Silent_p.L443L|ZFYVE28_uc003gew.1_Silent_p.L359L	p.L473L	NM_020972	NP_066023	Q9HCC9	LST2_HUMAN			8	1738	-			473					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.1419C>T	CCDS33942.1																																																																																				PASS	0.682	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371		4	142	4	142	---	---	---	---
HSD17B11	51170	broad.mit.edu	37	4	88261719	88261719	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:88261719C>G	ENST00000358290.4	-	6	1050	c.735G>C	c.(733-735)agG>agC	p.R245S	HSD17B11_ENST00000507286.1_Missense_Mutation_p.R201S|HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	245					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.R245S(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CATGCATCAGCCTGTTTACCA	0.403																																						uc003hqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(733-735)AGG>AGC		estradiol 17-beta-dehydrogenase 11							94.0	95.0	95.0					4																	88261719		2203	4300	6503	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88261719C>G	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.735G>C	4.37:g.88261719C>G	ENSP00000351035:p.Arg245Ser						p.R245S	NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	6	968	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	245					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.735G>C	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	1.720	-0.496879	0.04291	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;T	0.89196	-2.48;0.75	5.64	1.76	0.24704	NAD(P)-binding domain (1);	0.746850	0.12772	N	0.440489	T	0.67163	0.2864	N	0.02315	-0.6	0.23309	N	0.997932	B	0.02656	0.0	B	0.01281	0.0	T	0.54662	-0.8260	10	0.19147	T	0.46	.	1.2871	0.02052	0.1569:0.4417:0.1427:0.2587	.	245	Q8NBQ5	DHB11_HUMAN	S	245;201	ENSP00000351035:R245S;ENSP00000423775:R201S	ENSP00000351035:R245S	R	-	3	2	HSD17B11	88480743	0.003000	0.15002	0.261000	0.24466	0.046000	0.14306	-0.357000	0.07651	0.007000	0.14760	-0.844000	0.03045	AGG		PASS	0.403	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		21	76	21	76	---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95200089	95200089	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:95200089C>G	ENST00000354268.4	+	19	2379	c.2306C>G	c.(2305-2307)aCa>aGa	p.T769R	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.T771R|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.T339R			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	769					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.T769R(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GAAAAAAACACAGAAATGTGC	0.323																																						uc003htc.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(2305-2307)ACA>AGA		SWI/SNF-related, matrix-associated							82.0	80.0	81.0					4																	95200089		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95200089C>G	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.2306C>G	4.37:g.95200089C>G	ENSP00000346217:p.Thr769Arg					SMARCAD1_uc003htb.3_Missense_Mutation_p.T771R|SMARCAD1_uc003htd.3_Missense_Mutation_p.T771R|SMARCAD1_uc010ila.2_Missense_Mutation_p.T634R|SMARCAD1_uc011cdw.1_Missense_Mutation_p.T339R	p.T769R	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	19	2561	+			769					B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.2306C>G	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	C	8.568	0.879442	0.17467	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	T;T;D;D	0.92911	-0.98;-0.98;-3.13;-3.13	6.08	5.23	0.72850	SNF2-related (1);	0.138723	0.32175	N	0.006467	T	0.79958	0.4536	N	0.02169	-0.655	0.36759	D	0.883195	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.76310	-0.3006	10	0.11794	T	0.64	-12.1983	16.7518	0.85488	0.1302:0.8698:0.0:0.0	.	769;771	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	R	771;771;769;339	ENSP00000351947:T771R;ENSP00000415576:T771R;ENSP00000346217:T769R;ENSP00000423286:T339R	ENSP00000346217:T769R	T	+	2	0	SMARCAD1	95419112	1.000000	0.71417	0.994000	0.49952	0.855000	0.48748	5.759000	0.68785	1.562000	0.49601	0.655000	0.94253	ACA		PASS	0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		9	49	9	49	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126412458	126412458	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:126412458G>T	ENST00000394329.3	+	17	14494	c.14481G>T	c.(14479-14481)agG>agT	p.R4827S	FAT4_ENST00000335110.5_Missense_Mutation_p.R3068S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4827					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R4827S(1)|p.R4770S(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTAGAACAAGGAATCCAGCGG	0.502																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(14479-14481)AGG>AGT		FAT tumor suppressor homolog 4 precursor							60.0	61.0	60.0					4																	126412458		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412458G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14481G>T	4.37:g.126412458G>T	ENSP00000377862:p.Arg4827Ser					FAT4_uc011cgp.1_Missense_Mutation_p.R3068S|FAT4_uc003ifi.1_Missense_Mutation_p.R2304S	p.R4827S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			17	14481	+			4827			Cytoplasmic (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14481G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	4.253	0.045908	0.08243	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75938	-0.79;-0.98	4.97	3.21	0.36854	.	0.000000	0.37437	U	0.002087	T	0.78761	0.4334	L	0.60455	1.87	0.48830	D	0.999712	D;P;P	0.54207	0.965;0.941;0.932	P;P;P	0.58077	0.832;0.683;0.66	T	0.77056	-0.2729	10	0.56958	D	0.05	.	9.6222	0.39727	0.0778:0.1419:0.7803:0.0	.	3068;4827;4826	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	4827;3068	ENSP00000377862:R4827S;ENSP00000335169:R3068S	ENSP00000335169:R3068S	R	+	3	2	FAT4	126631908	1.000000	0.71417	0.960000	0.40013	0.068000	0.16541	2.309000	0.43699	0.493000	0.27837	-0.479000	0.04858	AGG		PASS	0.502	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		17	93	17	93	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134072188	134072188	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:134072188G>T	ENST00000264360.5	+	1	1719	c.893G>T	c.(892-894)cGg>cTg	p.R298L	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R298L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCCGGGCGCGGGAGCTTTTC	0.622																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(892-894)CGG>CTG		protocadherin 10 isoform 1 precursor							42.0	46.0	45.0					4																	134072188		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072188G>T	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.893G>T	4.37:g.134072188G>T	ENSP00000264360:p.Arg298Leu					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R298L	p.R298L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1719	+			298			Cadherin 3.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.893G>T	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420363	0.42918	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52057	0.68	4.33	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.000000	0.41500	D	0.000872	T	0.36220	0.0959	N	0.16903	0.455	0.50813	D	0.999891	P;B	0.48503	0.911;0.358	B;B	0.42361	0.385;0.38	T	0.43310	-0.9399	10	0.62326	D	0.03	.	16.6189	0.84924	0.0:0.0:1.0:0.0	.	298;298	Q9P2E7;Q96SF0	PCD10_HUMAN;.	L	298	ENSP00000264360:R298L	ENSP00000264360:R298L	R	+	2	0	PCDH10	134291638	1.000000	0.71417	0.318000	0.25279	0.663000	0.39108	5.086000	0.64474	2.207000	0.71202	0.511000	0.50034	CGG		PASS	0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		36	63	36	63	---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140264007	140264007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:140264007C>T	ENST00000296543.5	+	5	753	c.430C>T	c.(430-432)Cga>Tga	p.R144*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.R144*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	144					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.R144*(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACTTCAGCTTCGACCTGCGCA	0.348																																						uc003ihu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(430-432)CGA>TGA		NMDA receptor regulated 1							133.0	123.0	126.0					4																	140264007		1850	4114	5964	SO:0001587	stop_gained	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140264007C>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.430C>T	4.37:g.140264007C>T	ENSP00000296543:p.Arg144*						p.R144*	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			5	686	+			144					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	ENST00000296543.5	37	c.430C>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	39	7.639103	0.98406	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.25	5.25	0.73442	.	0.173721	0.36740	N	0.002423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.6736	14.271	0.66152	0.1487:0.8513:0.0:0.0	.	.	.	.	X	144;18;144	.	ENSP00000296543:R144X	R	+	1	2	NAA15	140483457	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.329000	0.65892	2.894000	0.99253	0.591000	0.81541	CGA		PASS	0.348	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		75	102	75	102	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	T	rs149680468		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:153247289G>T	ENST00000281708.4	-	10	2742	c.1513C>A	c.(1513-1515)Cgc>Agc	p.R505S	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329S|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505S|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387S|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425S|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>AGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>A	4.37:g.153247289G>T	ENSP00000281708:p.Arg505Ser					FBXW7_uc011cii.1_Missense_Mutation_p.R505S|FBXW7_uc003imt.2_Missense_Mutation_p.R505S|FBXW7_uc011cih.1_Missense_Mutation_p.R329S|FBXW7_uc003imq.2_Missense_Mutation_p.R425S|FBXW7_uc003imr.2_Missense_Mutation_p.R387S	p.R505S	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817347	0.70912	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.68559	0.3014	L	0.39633	1.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.72257	-0.4346	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	S	505;387;425;329	ENSP00000281708:R505S;ENSP00000296555:R387S;ENSP00000263981:R425S;ENSP00000377528:R329S	ENSP00000263981:R425S	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		PASS	0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			56	78	56	78	---	---	---	---
AADAT	51166	broad.mit.edu	37	4	170994374	170994374	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:170994374G>A	ENST00000337664.4	-	5	843	c.567C>T	c.(565-567)aaC>aaT	p.N189N	AADAT_ENST00000353187.2_Silent_p.N189N|AADAT_ENST00000509167.1_Silent_p.N193N|AADAT_ENST00000515480.1_Silent_p.N189N	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	189					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.N189N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		ATTTGGGGGTGTTTTTCTGGG	0.388																																						uc003isr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(565-567)AAC>AAT		kynurenine aminotransferase II	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						165.0	166.0	166.0					4																	170994374		2203	4300	6503	SO:0001819	synonymous_variant	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:170994374G>A	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.567C>T	4.37:g.170994374G>A						AADAT_uc003iss.2_Silent_p.N189N|AADAT_uc003ist.2_Silent_p.N193N	p.N189N	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	5	909	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	189					B3KP84|Q9UL02	Silent	SNP	ENST00000337664.4	37	c.567C>T	CCDS3814.1																																																																																				PASS	0.388	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	NM_016228		101	132	101	132	---	---	---	---
CYP4V2	285440	broad.mit.edu	37	4	187130031	187130031	+	Missense_Mutation	SNP	G	G	A	rs138739819		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr4:187130031G>A	ENST00000378802.4	+	9	1407	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	368					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R368H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		AAGTCTGACCGTCCCGCTACA	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20475	0.0		0.001	False		,,,				2504	0.0					uc003iyw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)CGT>CAT		cytochrome P450, family 4, subfamily v,		G	HIS/ARG	0,4406		0,0,2203	142.0	140.0	141.0		1103	2.9	0.9	4	dbSNP_134	141	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CYP4V2	NM_207352.3	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	368/526	187130031	4,13002	2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130031G>A	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1103G>A	4.37:g.187130031G>A	ENSP00000368079:p.Arg368His					CYP4V2_uc010ism.2_RNA	p.R368H	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	9	1407	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	368					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1103G>A	CCDS34119.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.89	2.671058	0.47781	0.0	4.65E-4	ENSG00000145476	ENST00000378802;ENST00000274118	T	0.71341	-0.56	5.52	2.88	0.33553	.	0.166674	0.53938	N	0.000060	T	0.71099	0.3300	M	0.79011	2.435	0.58432	D	0.999999	P	0.37276	0.589	B	0.39503	0.301	T	0.70565	-0.4837	10	0.72032	D	0.01	.	10.8624	0.46833	0.1897:0.0:0.8103:0.0	.	368	Q6ZWL3	CP4V2_HUMAN	H	368;346	ENSP00000368079:R368H	ENSP00000274118:R346H	R	+	2	0	CYP4V2	187367025	0.998000	0.40836	0.868000	0.34077	0.028000	0.11728	3.404000	0.52623	0.302000	0.22762	0.655000	0.94253	CGT		PASS	0.468	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		63	101	63	101	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13793676	13793676	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:13793676G>C	ENST00000265104.4	-	49	8276	c.8172C>G	c.(8170-8172)ttC>ttG	p.F2724L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2724	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.F2724L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAAATATAGAGAACTGCCTCT	0.502									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(8170-8172)TTC>TTG		dynein, axonemal, heavy chain 5							153.0	155.0	154.0					5																	13793676		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13793676G>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8172C>G	5.37:g.13793676G>C	ENSP00000265104:p.Phe2724Leu						p.F2724L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			49	8214	-	Lung NSC(4;0.00476)		2724			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8172C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883868	0.51908	.	.	ENSG00000039139	ENST00000265104	T	0.47177	0.85	5.7	2.58	0.30949	ATPase, AAA+ type, core (1);	0.048808	0.85682	D	0.000000	T	0.60209	0.2251	M	0.84326	2.69	0.58432	D	0.999999	P	0.46784	0.884	P	0.55011	0.766	T	0.60255	-0.7299	10	0.52906	T	0.07	.	7.1091	0.25380	0.4416:0.0:0.5584:0.0	.	2724	Q8TE73	DYH5_HUMAN	L	2724	ENSP00000265104:F2724L	ENSP00000265104:F2724L	F	-	3	2	DNAH5	13846676	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	1.226000	0.32563	0.777000	0.33496	-0.262000	0.10625	TTC		PASS	0.502	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		41	162	41	162	---	---	---	---
CCDC125	202243	broad.mit.edu	37	5	68602672	68602672	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:68602672C>G	ENST00000396496.2	-	6	696	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	CCDC125_ENST00000396499.1_Missense_Mutation_p.E197Q|CCDC125_ENST00000383374.2_Missense_Mutation_p.E196Q|CCDC125_ENST00000511257.1_Missense_Mutation_p.E72Q|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	197						cytoplasm (GO:0005737)		p.E197Q(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CAAGATTCCTCTATATTTTTA	0.269																																						uc003jvv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GAG>CAG		coiled-coil domain containing 125							47.0	56.0	53.0					5																	68602672		2187	4261	6448	SO:0001583	missense	202243					cytoplasm		g.chr5:68602672C>G	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.589G>C	5.37:g.68602672C>G	ENSP00000379754:p.Glu197Gln					CCDC125_uc003jvx.1_Missense_Mutation_p.E196Q|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Missense_Mutation_p.E72Q	p.E197Q	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	5	632	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	197			Potential.		Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.589G>C	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011912	0.54468	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000383374;ENST00000511257	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.82	5.82	0.92795	.	0.102925	0.64402	D	0.000006	T	0.68613	0.3020	M	0.66939	2.045	0.44976	D	0.997996	D;D	0.89917	0.988;1.0	D;D	0.87578	0.909;0.998	T	0.66420	-0.5928	10	0.46703	T	0.11	-27.3799	18.9249	0.92540	0.0:1.0:0.0:0.0	.	72;197	Q86Z20-2;Q86Z20	.;CC125_HUMAN	Q	197;197;196;72	ENSP00000379754:E197Q;ENSP00000379756:E197Q;ENSP00000372865:E196Q;ENSP00000426795:E72Q	ENSP00000372865:E196Q	E	-	1	0	CCDC125	68638428	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	4.890000	0.63178	2.764000	0.94973	0.650000	0.86243	GAG		PASS	0.269	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		58	88	58	88	---	---	---	---
TMEM174	134288	broad.mit.edu	37	5	72469927	72469927	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:72469927G>A	ENST00000296776.5	+	2	716	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	TMEM174_ENST00000511737.1_Intron	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	223						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E223K(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GACACAGCTGGAAGAGGAGGC	0.468																																						uc010izc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)GAA>AAA		transmembrane protein 174							112.0	108.0	109.0					5																	72469927		2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469927G>A	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.667G>A	5.37:g.72469927G>A	ENSP00000296776:p.Glu223Lys						p.E223K	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	2	715	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	223					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.667G>A	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777297	0.31411	.	.	ENSG00000164325	ENST00000296776	.	.	.	5.24	3.38	0.38709	.	1.156670	0.06349	N	0.709501	T	0.44329	0.1288	L	0.44542	1.39	0.09310	N	0.999999	B	0.29646	0.253	B	0.31337	0.128	T	0.35025	-0.9805	9	0.20519	T	0.43	-13.5579	13.0631	0.59018	0.0:0.3093:0.6907:0.0	.	223	Q8WUU8	TM174_HUMAN	K	223	.	ENSP00000296776:E223K	E	+	1	0	TMEM174	72505683	0.037000	0.19845	0.031000	0.17742	0.096000	0.18686	1.945000	0.40273	0.728000	0.32382	0.655000	0.94253	GAA		PASS	0.468	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217		46	66	46	66	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79032599	79032599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:79032599G>T	ENST00000446378.2	+	2	8042	c.8011G>T	c.(8011-8013)Gaa>Taa	p.E2671*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2671					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.E2671*(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGATCACAGTGAAGAAAAAGA	0.398																																						uc003kgc.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(8011-8013)GAA>TAA		cardiomyopathy associated 5							48.0	49.0	49.0					5																	79032599		1852	4102	5954	SO:0001587	stop_gained	202333					perinuclear region of cytoplasm		g.chr5:79032599G>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8011G>T	5.37:g.79032599G>T	ENSP00000394770:p.Glu2671*						p.E2671*	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	8083	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2671					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	ENST00000446378.2	37	c.8011G>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	47	13.060729	0.99717	.	.	ENSG00000164309	ENST00000446378	.	.	.	3.3	2.41	0.29592	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	5.7401	0.18089	0.148:0.0:0.852:0.0	.	.	.	.	X	2671	.	ENSP00000394770:E2671X	E	+	1	0	CMYA5	79068355	0.981000	0.34729	0.591000	0.28745	0.027000	0.11550	1.895000	0.39778	1.859000	0.53934	0.393000	0.25936	GAA		PASS	0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		3	42	3	42	---	---	---	---
MTX3	345778	broad.mit.edu	37	5	79284338	79284338	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:79284338G>A	ENST00000512528.1	-	5	471	c.451C>T	c.(451-453)Ctc>Ttc	p.L151F	MTX3_ENST00000512560.1_Missense_Mutation_p.L90F|MTX3_ENST00000509852.1_Missense_Mutation_p.L151F			Q5HYI7	MTX3_HUMAN	metaxin 3	151					protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)		p.L90F(1)|p.L151F(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		CTGGTCAGGAGAATCCTATTC	0.463																																						uc010jag.2																			2	Substitution - Missense(2)		lung(2)		0						c.(451-453)CTC>TTC		metaxin 3							68.0	63.0	65.0					5																	79284338		1901	4112	6013	SO:0001583	missense	345778				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr5:79284338G>A	BX538064	CCDS47239.1, CCDS47239.2, CCDS54872.1	5q14.1	2004-08-18				ENSG00000177034			24812	protein-coding gene	gene with protein product						15087125	Standard	NM_001010891		Approved		uc010jah.3	Q5HYI7		ENST00000512528.1:c.451C>T	5.37:g.79284338G>A	ENSP00000424798:p.Leu151Phe					MTX3_uc010jah.2_Missense_Mutation_p.L151F|MTX3_uc003kge.3_Missense_Mutation_p.L90F|MTX3_uc003kgf.1_5'Flank	p.L151F	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)	5	478	-		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	151					B4DL65|E9PB57|Q7Z380|Q8NB92	Missense_Mutation	SNP	ENST00000512528.1	37	c.451C>T		.	.	.	.	.	.	.	.	.	.	G	14.85	2.659203	0.47467	.	.	ENSG00000177034	ENST00000512560;ENST00000509852;ENST00000512528;ENST00000418095	T;T;T	0.51574	0.7;0.75;0.7	5.58	4.71	0.59529	Glutathione S-transferase, C-terminal-like (1);	.	.	.	.	T	0.57666	0.2069	M	0.63428	1.95	0.58432	D	0.999995	D;D	0.89917	1.0;0.971	D;P	0.83275	0.996;0.818	T	0.58719	-0.7587	9	0.10111	T	0.7	.	7.4431	0.27196	0.1066:0.0:0.7298:0.1636	.	151;151	Q5HYI7-4;Q5HYI7	.;MTX3_HUMAN	F	90;151;151;151	ENSP00000423600:L90F;ENSP00000423302:L151F;ENSP00000424798:L151F	ENSP00000392181:L151F	L	-	1	0	MTX3	79320094	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.054000	0.57434	1.340000	0.45581	0.655000	0.94253	CTC		PASS	0.463	MTX3-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372567.1	XM_293971		9	19	9	19	---	---	---	---
FER	2241	broad.mit.edu	37	5	108436132	108436132	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:108436132G>C	ENST00000281092.4	+	17	2344	c.1960G>C	c.(1960-1962)Gat>Cat	p.D654H	FER_ENST00000438717.2_Missense_Mutation_p.D479H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	654	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D654H(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAGGAAGAAGGATGAACTAAA	0.358																																					Colon(146;1051 1799 9836 27344 47401)	uc003kop.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(1960-1962)GAT>CAT		fer (fps/fes related) tyrosine kinase							77.0	84.0	82.0					5																	108436132		2202	4299	6501	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108436132G>C	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1960G>C	5.37:g.108436132G>C	ENSP00000281092:p.Asp654His					FER_uc011cvg.1_Missense_Mutation_p.D479H	p.D654H	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	17	2344	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	654			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1960G>C	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092717	0.76756	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.82893	-1.66;-1.66	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.098510	0.64402	D	0.000002	D	0.84202	0.5420	N	0.16478	0.41	0.80722	D	1	D	0.63880	0.993	D	0.64144	0.922	D	0.84569	0.0654	10	0.41790	T	0.15	-14.0457	19.7239	0.96154	0.0:0.0:1.0:0.0	.	654	P16591	FER_HUMAN	H	654;479	ENSP00000281092:D654H;ENSP00000394297:D479H	ENSP00000281092:D654H	D	+	1	0	FER	108464031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.269000	0.95684	2.745000	0.94114	0.557000	0.71058	GAT		PASS	0.358	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		31	26	31	26	---	---	---	---
SLC22A4	6583	broad.mit.edu	37	5	131630483	131630483	+	Silent	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:131630483G>C	ENST00000200652.3	+	1	348	c.174G>C	c.(172-174)ctG>ctC	p.L58L	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	58					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)	p.L58L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	CCGCGAACCTGAGCAGCGCCT	0.682																																						uc003kwq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(172-174)CTG>CTC		solute carrier family 22 member 4	L-Carnitine(DB00583)						29.0	35.0	33.0					5																	131630483		2203	4299	6502	SO:0001819	synonymous_variant	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630483G>C	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.174G>C	5.37:g.131630483G>C						uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank	p.L58L	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	339	+		all_cancers(142;0.0752)|Breast(839;0.198)	58			Extracellular (Potential).		O14546	Silent	SNP	ENST00000200652.3	37	c.174G>C	CCDS4153.1																																																																																				PASS	0.682	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1	NM_003059		19	50	19	50	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140626008	140626008	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:140626008A>G	ENST00000231173.3	+	1	862	c.862A>G	c.(862-864)Ata>Gta	p.I288V		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.I288V(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCAGGAGATAGACAAACC	0.413																																						uc003lje.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(862-864)ATA>GTA		protocadherin beta 15 precursor							55.0	57.0	56.0					5																	140626008		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140626008A>G	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.862A>G	5.37:g.140626008A>G	ENSP00000231173:p.Ile288Val						p.I288V	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	862	+			288			Extracellular (Potential).|Cadherin 3.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.862A>G	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	A	0.145	-1.097644	0.01843	.	.	ENSG00000113248	ENST00000231173	T	0.46451	0.87	5.07	2.62	0.31277	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28995	0.0720	L	0.37507	1.11	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.18335	-1.0340	9	0.32370	T	0.25	.	4.4837	0.11780	0.6248:0.1695:0.2057:0.0	.	288	Q9Y5E8	PCDBF_HUMAN	V	288	ENSP00000231173:I288V	ENSP00000231173:I288V	I	+	1	0	PCDHB15	140606192	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.063000	0.11655	0.855000	0.35359	0.402000	0.26972	ATA		PASS	0.413	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		3	95	3	95	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140740504	140740504	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:140740504G>A	ENST00000522605.1	+	1	802	c.802G>A	c.(802-804)Gac>Aac	p.D268N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D268N(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGCCACCGACCGGGATGA	0.493																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GAC>AAC		protocadherin gamma subfamily B, 2 isoform 1							53.0	54.0	54.0					5																	140740504		1992	4163	6155	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740504G>A	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.802G>A	5.37:g.140740504G>A	ENSP00000429018:p.Asp268Asn					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_uc011dar.1_Missense_Mutation_p.D268N	p.D268N	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	802	+			268			Extracellular (Potential).|Cadherin 3.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.802G>A	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	17.08	3.298076	0.60086	.	.	ENSG00000253910	ENST00000522605	T	0.41400	1.0	5.54	5.54	0.83059	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.79873	0.4521	H	0.98559	4.265	0.43683	D	0.996121	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87483	0.2422	9	0.87932	D	0	.	19.4556	0.94886	0.0:0.0:1.0:0.0	.	268;268	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	N	268	ENSP00000429018:D268N	ENSP00000429018:D268N	D	+	1	0	PCDHGB2	140720688	1.000000	0.71417	0.269000	0.24586	0.005000	0.04900	9.603000	0.98315	2.754000	0.94517	0.655000	0.94253	GAC		PASS	0.493	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		14	43	14	43	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755477	140755477	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:140755477C>T	ENST00000517434.1	+	1	1827	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	609	Cadherin 6. {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.L609L(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTGCTCAAGGCCAGCG	0.692																																						uc003ljy.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1825-1827)CTC>CTT		protocadherin gamma subfamily A, 6 isoform 1							38.0	46.0	44.0					5																	140755477		2201	4299	6500	SO:0001819	synonymous_variant	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755477C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1827C>T	5.37:g.140755477C>T						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_uc011dau.1_Silent_p.L609L	p.L609L	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1827	+			609			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Silent	SNP	ENST00000517434.1	37	c.1827C>T	CCDS54926.1																																																																																				PASS	0.692	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		10	104	10	104	---	---	---	---
DBN1	1627	broad.mit.edu	37	5	176884741	176884741	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:176884741G>C	ENST00000309007.5	-	13	2013	c.1794C>G	c.(1792-1794)ttC>ttG	p.F598L	DBN1_ENST00000393565.1_Missense_Mutation_p.F644L|DBN1_ENST00000512501.1_3'UTR|DBN1_ENST00000292385.5_Missense_Mutation_p.F600L|DBN1_ENST00000393563.4_Missense_Mutation_p.F330L	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	598					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.F598L(1)|p.F600L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	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)			GTGATTGACTGAAGTACCCCT	0.597											OREG0016462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003mgy.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|lung(1)|skin(1)	6						c.(1792-1794)TTC>TTG		drebrin 1 isoform a							85.0	80.0	82.0					5																	176884741		2203	4300	6503	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176884741G>C		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1794C>G	5.37:g.176884741G>C	ENSP00000308532:p.Phe598Leu		OREG0016462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	DBN1_uc011dga.1_Missense_Mutation_p.F330L|DBN1_uc003mgx.2_Missense_Mutation_p.F600L|DBN1_uc010jkn.1_Missense_Mutation_p.F548L	p.F598L	NM_004395	NP_004386	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1966	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	598					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.1794C>G	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912258	0.72983	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000393563	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.41	5.41	0.78517	.	0.102107	0.64402	N	0.000002	D	0.98040	0.9354	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.76494	0.999;0.998;0.976	D;D;P	0.80764	0.994;0.98;0.85	D	0.99900	1.1160	10	0.87932	D	0	-7.8447	17.9529	0.89059	0.0:0.0:1.0:0.0	.	548;598;600	B3KSQ7;Q16643;Q16643-2	.;DREB_HUMAN;.	L	598;600;644;330	ENSP00000308532:F598L;ENSP00000292385:F600L;ENSP00000377195:F644L;ENSP00000377193:F330L	ENSP00000292385:F600L	F	-	3	2	DBN1	176817347	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.661000	0.68025	2.534000	0.85438	0.561000	0.74099	TTC		PASS	0.597	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881		12	24	12	24	---	---	---	---
C5orf45	51149	broad.mit.edu	37	5	179264608	179264608	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr5:179264608G>A	ENST00000292586.6	-	7	905	c.815C>T	c.(814-816)tCa>tTa	p.S272L	C5orf45_ENST00000523084.1_Missense_Mutation_p.S138L|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000520698.1_Intron|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000518235.1_Intron|C5orf45_ENST00000376931.2_Missense_Mutation_p.S217L	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	272								p.S272L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GCCTTCTCTTGAGGCCTGTGC	0.627																																						uc003mla.2																			1	Substitution - Missense(1)		lung(1)		0						c.(814-816)TCA>TTA		hypothetical protein LOC51149 isoform 1							64.0	68.0	66.0					5																	179264608		2203	4300	6503	SO:0001583	missense	51149							g.chr5:179264608G>A		CCDS34318.1, CCDS34319.1	5q35.3	2008-07-10			ENSG00000161010	ENSG00000161010			30817	protein-coding gene	gene with protein product	"""truncated calcium binding protein"""						Standard	NM_016175		Approved	MGC65027, MGC78537, DKFZp686L2452, LOC51149	uc003mla.3	Q6NTE8	OTTHUMG00000163490	ENST00000292586.6:c.815C>T	5.37:g.179264608G>A	ENSP00000292586:p.Ser272Leu					SQSTM1_uc011dgr.1_3'UTR|SQSTM1_uc011dgs.1_3'UTR|SQSTM1_uc003mkw.3_3'UTR|SQSTM1_uc003mkx.2_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Missense_Mutation_p.S217L|C5orf45_uc003mlb.2_Missense_Mutation_p.S138L	p.S272L	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN			7	859	-			272					B5MD09|E9PAK6|Q7Z3D8|Q9BUC1|Q9UN54	Missense_Mutation	SNP	ENST00000292586.6	37	c.815C>T	CCDS34319.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687036	0.29962	.	.	ENSG00000161010	ENST00000376931;ENST00000523084;ENST00000292586	T;T;T	0.08102	3.13;3.13;3.13	3.86	0.737	0.18314	.	1.408300	0.04757	N	0.425607	T	0.07188	0.0182	L	0.36672	1.1	0.09310	N	1	B;B	0.29552	0.021;0.248	B;B	0.26202	0.006;0.067	T	0.38134	-0.9675	10	0.39692	T	0.17	2.9489	3.5356	0.07793	0.2451:0.2134:0.5415:0.0	.	217;272	E9PAK6;Q6NTE8	.;CE045_HUMAN	L	217;138;272	ENSP00000366130:S217L;ENSP00000429107:S138L;ENSP00000292586:S272L	ENSP00000292586:S272L	S	-	2	0	C5orf45	179197214	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.211000	0.17474	0.374000	0.24650	0.491000	0.48974	TCA		PASS	0.627	C5orf45-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373760.2	NM_016175		32	62	32	62	---	---	---	---
SERPINB1	1992	broad.mit.edu	37	6	2840762	2840762	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:2840762C>T	ENST00000380739.5	-	2	261	c.59G>A	c.(58-60)aGt>aAt	p.S20N	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_De_novo_Start_OutOfFrame	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	20					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S20N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		ATTGTTCTCACTCAACGCCAG	0.537																																						uc003mub.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(1)	5						c.(58-60)AGT>AAT		serine (or cysteine) proteinase inhibitor, clade							97.0	91.0	93.0					6																	2840762		2203	4300	6503	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2840762C>T	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.59G>A	6.37:g.2840762C>T	ENSP00000370115:p.Ser20Asn					SERPINB1_uc003muc.2_Translation_Start_Site	p.S20N	NM_030666	NP_109591	P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	2	103	-	Ovarian(93;0.0412)		20					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.59G>A	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	5.955	0.360271	0.11296	.	.	ENSG00000021355	ENST00000380739	D	0.85171	-1.95	4.91	-9.82	0.00484	Serpin domain (3);	0.329447	0.38605	N	0.001639	T	0.37732	0.1014	N	0.15975	0.35	0.18873	N	0.999986	B	0.06786	0.001	B	0.14023	0.01	T	0.48790	-0.9004	10	0.14656	T	0.56	.	6.4401	0.21845	0.0831:0.486:0.1678:0.2631	.	20	P30740	ILEU_HUMAN	N	20	ENSP00000370115:S20N	ENSP00000370115:S20N	S	-	2	0	SERPINB1	2785761	0.000000	0.05858	0.000000	0.03702	0.396000	0.30629	-2.747000	0.00794	-2.266000	0.00687	-0.367000	0.07326	AGT		PASS	0.537	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			37	33	37	33	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25826862	25826862	+	Splice_Site	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:25826862C>T	ENST00000244527.4	-	3	150		c.e3-1		SLC17A1_ENST00000468082.1_Splice_Site|SLC17A1_ENST00000427328.1_Splice_Site|SLC17A1_ENST00000476801.1_Splice_Site	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1						ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAACCTGGAACTACAAAGTAA	0.398																																						uc003nfh.3																			1	Unknown(1)		lung(1)	ovary(3)|pancreas(1)	4						c.e3-1		solute carrier family 17 (sodium phosphate),							71.0	59.0	63.0					6																	25826862		2203	4300	6503	SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25826862C>T		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.35-1G>A	6.37:g.25826862C>T						SLC17A1_uc011djy.1_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V10_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice	p.V12_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN			3	151	-								A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	SNP	ENST00000244527.4	37	c.35_splice	CCDS4565.1	.	.	.	.	.	.	.	.	.	.	C	4.912	0.169535	0.09339	.	.	ENSG00000124568	ENST00000244527;ENST00000427328;ENST00000476801;ENST00000468082	.	.	.	3.95	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.21762	N	0.999552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9264	0.19114	0.0:0.6928:0.1955:0.1116	.	.	.	.	.	-1	.	.	.	-	.	.	SLC17A1	25934841	0.080000	0.21391	0.002000	0.10522	0.001000	0.01503	1.131000	0.31406	0.398000	0.25338	-0.878000	0.02970	.		PASS	0.398	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2		Intron	6	43	6	43	---	---	---	---
HIST1H3F	8968	broad.mit.edu	37	6	26250542	26250542	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:26250542C>T	ENST00000446824.2	-	1	293	c.292G>A	c.(292-294)Gag>Aag	p.E98K	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E98K(1)		lung(6)|urinary_tract(1)	7						AGGTAAGCCTCGCAGGCCTCC	0.602											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nhg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(292-294)GAG>AAG		histone cluster 1, H3f							102.0	101.0	101.0					6																	26250542		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250542C>T	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.292G>A	6.37:g.26250542C>T	ENSP00000444823:p.Glu98Lys		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H2BH_uc003nhh.2_5'Flank	p.E98K	NM_021018	NP_066298	P68431	H31_HUMAN			1	294	-			98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.292G>A	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.187622	0.78789	.	.	ENSG00000256316	ENST00000446824	T	0.77489	-1.1	4.82	4.82	0.62117	.	.	.	.	.	D	0.84884	0.5571	.	.	.	0.46678	D	0.999154	.	.	.	.	.	.	D	0.86732	0.1949	6	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	K	98	ENSP00000444823:E98K	ENSP00000444823:E98K	E	-	1	0	HIST1H3F	26358521	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.722000	0.84778	2.602000	0.87976	0.561000	0.74099	GAG		PASS	0.602	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		50	102	50	102	---	---	---	---
OR2B3	442184	broad.mit.edu	37	6	29054567	29054567	+	Silent	SNP	G	G	A	rs139179669		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:29054567G>A	ENST00000377173.2	-	1	523	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F153F(2)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTGAGTTGCCGAAACCAATGA	0.488																																						uc003nlx.2																			2	Substitution - coding silent(2)	p.F153F(1)	lung(1)|skin(1)	skin(1)	1						c.(457-459)TTC>TTT		olfactory receptor, family 2, subfamily B,							64.0	59.0	61.0					6																	29054567		2203	4300	6503	SO:0001819	synonymous_variant	442184							g.chr6:29054567G>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.459C>T	6.37:g.29054567G>A							p.F153F	NM_001005226	NP_001005226					1	524	-								B0UYQ1|Q5ST41|Q96R13	Silent	SNP	ENST00000377173.2	37	c.459C>T	CCDS34358.1																																																																																				PASS	0.488	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			25	41	25	41	---	---	---	---
AIF1	199	broad.mit.edu	37	6	31584147	31584147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:31584147G>T	ENST00000376059.3	+	5	369	c.223G>T	c.(223-225)Gag>Tag	p.E75*	AIF1_ENST00000376049.4_Nonsense_Mutation_p.E21*	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	75	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cellular response to interferon-gamma (GO:0071346)|inflammatory response (GO:0006954)|microglial cell activation (GO:0001774)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell proliferation (GO:0048662)|phagocytosis, engulfment (GO:0006911)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|Rac protein signal transduction (GO:0016601)|ruffle assembly (GO:0097178)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|ruffle membrane (GO:0032587)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)	p.E87*(1)|p.E75*(1)		lung(2)|ovary(1)	3						ACGAATGCTGGAGAAACTTGG	0.542																																					Ovarian(23;358 734 36938 38933 52312)	uc003nuy.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(223-225)GAG>TAG		allograft inflammatory factor 1 isoform 3							78.0	74.0	75.0					6																	31584147		1510	2709	4219	SO:0001587	stop_gained	199				actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding	g.chr6:31584147G>T	U19713	CCDS4706.1, CCDS34398.1	6p21.3	2013-01-10			ENSG00000204472	ENSG00000204472		"""EF-hand domain containing"""	352	protein-coding gene	gene with protein product	"""interferon gamma responsive transcript"", ""ionized calcium-binding adapter molecule 1"""	601833				8912632	Standard	NM_032955		Approved	IRT-1, AIF-1, Em:AF129756.17, IBA1	uc003nuy.3	P55008	OTTHUMG00000031246	ENST00000376059.3:c.223G>T	6.37:g.31584147G>T	ENSP00000365227:p.Glu75*					AIF1_uc010jsy.2_Nonsense_Mutation_p.E87*|AIF1_uc003nva.2_Nonsense_Mutation_p.E21*	p.E75*	NM_001623	NP_001614	P55008	AIF1_HUMAN			5	297	+			75			EF-hand 1.		A8K406|O43904|Q9UIV4|Q9UKS9	Nonsense_Mutation	SNP	ENST00000376059.3	37	c.223G>T	CCDS4706.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457632	0.84317	.	.	ENSG00000204472	ENST00000376059;ENST00000337917;ENST00000376049	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-24.1985	15.0291	0.71694	0.0:0.0:1.0:0.0	.	.	.	.	X	75;89;21	.	ENSP00000338776:E89X	E	+	1	0	AIF1	31692126	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.169000	0.94788	2.489000	0.83994	0.655000	0.94253	GAG		PASS	0.542	AIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076512.3			34	61	34	61	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32014110	32014110	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:32014110T>A	ENST00000375244.3	-	31	10649	c.10448A>T	c.(10447-10449)tAc>tTc	p.Y3483F	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.Y3481F			P22105	TENX_HUMAN	tenascin XB	3528	Fibronectin type-III 26. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.Y3548F(1)|p.Y3483F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGTGTCCCTGTACTGGACCAC	0.642																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(10441-10443)TAC>TTC		tenascin XB isoform 1 precursor							37.0	44.0	41.0					6																	32014110		1418	2651	4069	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32014110T>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10448A>T	6.37:g.32014110T>A	ENSP00000364393:p.Tyr3483Phe					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	p.Y3481F	NM_019105	NP_061978	P22105	TENX_HUMAN			31	10644	-			3528			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10442A>T		.	.	.	.	.	.	.	.	.	.	T	15.94	2.980059	0.53827	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.61859	0.07;0.07	4.25	4.25	0.50352	.	0.000000	0.43579	D	0.000546	T	0.71247	0.3317	M	0.91249	3.19	0.22896	N	0.998594	D	0.76494	0.999	D	0.74348	0.983	T	0.66106	-0.6006	10	0.42905	T	0.14	.	12.479	0.55831	0.0:0.0:0.0:1.0	.	3481	P22105-3	.	F	3483;3481	ENSP00000364393:Y3483F;ENSP00000364396:Y3481F	ENSP00000364393:Y3483F	Y	-	2	0	TNXB	32122088	0.992000	0.36948	1.000000	0.80357	0.525000	0.34531	1.895000	0.39778	1.772000	0.52199	0.260000	0.18958	TAC		PASS	0.642	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		7	51	7	51	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32096798	32096798	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:32096798G>A	ENST00000375156.3	-	2	1030	c.760C>T	c.(760-762)Ctt>Ttt	p.L254F	ATF6B_ENST00000375201.4_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	254					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.L254F(1)									TTGGCATGAAGGACAGTTCGT	0.592																																						uc003nzr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(760-762)CTT>TTT		WAF-1/CIP1 stabilizing protein 39							49.0	53.0	52.0					6																	32096798		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096798G>A	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.760C>T	6.37:g.32096798G>A	ENSP00000364298:p.Leu254Phe					ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	p.L254F	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN			2	1030	-			254			TPR 2.		A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.760C>T	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518616	0.85495	.	.	ENSG00000204315	ENST00000375156	T	0.63913	-0.07	5.51	5.51	0.81932	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.39544	N	0.001322	T	0.70474	0.3228	L	0.58925	1.835	0.51767	D	0.999932	D	0.89917	1.0	D	0.91635	0.999	T	0.65154	-0.6237	10	0.33141	T	0.24	-8.4212	16.9624	0.86275	0.0:0.0:1.0:0.0	.	254	Q9UIM3	FKBPL_HUMAN	F	254	ENSP00000364298:L254F	ENSP00000364298:L254F	L	-	1	0	FKBPL	32204776	1.000000	0.71417	0.767000	0.31495	0.991000	0.79684	4.753000	0.62183	2.873000	0.98535	0.561000	0.74099	CTT		PASS	0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			52	94	52	94	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33133329	33133329	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:33133329C>T	ENST00000374708.4	-	61	4747	c.4489G>A	c.(4489-4491)Gat>Aat	p.D1497N	COL11A2_ENST00000374713.1_Missense_Mutation_p.D1536N|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1523N|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1502N|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1562N|COL11A2_ENST00000341947.2_Missense_Mutation_p.D1583N|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1557N|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1476N	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1583	Collagen-like 8.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.D1583N(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACTGACCATCGGGAAGCTCT	0.607																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(4747-4749)GAT>AAT		collagen, type XI, alpha 2 isoform 1							114.0	109.0	111.0					6																	33133329		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33133329C>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4489G>A	6.37:g.33133329C>T	ENSP00000363840:p.Asp1497Asn					COL11A2_uc010jul.1_Missense_Mutation_p.D153N|COL11A2_uc003ocy.1_Missense_Mutation_p.D1497N|COL11A2_uc003ocz.1_Missense_Mutation_p.D1476N	p.D1583N	NM_080680	NP_542411	P13942	COBA2_HUMAN			63	4975	-			1583			Fibrillar collagen NC1.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.4747G>A	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490363	0.44249	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000395196	T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	4.4	4.4	0.53042	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	M	0.70787	2.145	0.80722	D	1	D;D;D;D	0.76494	0.957;0.999;0.999;0.999	P;D;D;D	0.83275	0.72;0.994;0.994;0.996	D	0.84040	0.0364	10	0.66056	D	0.02	.	14.5472	0.68041	0.0:1.0:0.0:0.0	.	179;1476;1497;1583	A2ABA7;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	N	1497;1583;1562;1557;1536;1523;1502;1476;153	ENSP00000363840:D1497N;ENSP00000339915:D1583N;ENSP00000350079:D1562N;ENSP00000363846:D1557N;ENSP00000363845:D1536N;ENSP00000378623:D1523N;ENSP00000363844:D1502N;ENSP00000355123:D1476N	ENSP00000339915:D1583N	D	-	1	0	COL11A2	33241307	1.000000	0.71417	0.928000	0.36995	0.069000	0.16628	5.807000	0.69157	2.283000	0.76528	0.551000	0.68910	GAT		PASS	0.607	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			86	115	86	115	---	---	---	---
PPIL1	51645	broad.mit.edu	37	6	36823644	36823644	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:36823644G>A	ENST00000373699.5	-	4	697	c.446C>T	c.(445-447)tCc>tTc	p.S149F	PPIL1_ENST00000483552.1_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1	149	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.S149F(1)		lung(1)|ovary(1)	2						GCGGTCCTGGGAGTTTGTTTC	0.547																																						uc003omu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)TCC>TTC		peptidylprolyl isomerase-like 1							139.0	119.0	126.0					6																	36823644		2203	4300	6503	SO:0001583	missense	51645				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr6:36823644G>A	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.446C>T	6.37:g.36823644G>A	ENSP00000362803:p.Ser149Phe						p.S149F	NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN			4	698	-			149			PPIase cyclophilin-type.		O15001|Q5TDC9	Missense_Mutation	SNP	ENST00000373699.5	37	c.446C>T	CCDS4826.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976836	0.74360	.	.	ENSG00000137168	ENST00000373699	T	0.23348	1.91	5.46	5.46	0.80206	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.403236	0.28077	N	0.016687	T	0.26702	0.0653	L	0.46567	1.45	0.47547	D	0.999451	P	0.45474	0.859	P	0.50754	0.649	T	0.01165	-1.1431	10	0.62326	D	0.03	.	16.8683	0.86034	0.0:0.0:1.0:0.0	.	149	Q9Y3C6	PPIL1_HUMAN	F	149	ENSP00000362803:S149F	ENSP00000362803:S149F	S	-	2	0	PPIL1	36931622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.069000	0.64370	2.582000	0.87167	0.650000	0.86243	TCC		PASS	0.547	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			49	94	49	94	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54805161	54805161	+	Silent	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:54805161G>T	ENST00000306858.7	+	5	1508	c.1392G>T	c.(1390-1392)cgG>cgT	p.R464R	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	464								p.R464R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAATGTTCGGAGGTCTTTTA	0.438																																						uc003pck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(1390-1392)CGG>CGT		hypothetical protein LOC222584							65.0	68.0	67.0					6																	54805161		2203	4300	6503	SO:0001819	synonymous_variant	222584							g.chr6:54805161G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1392G>T	6.37:g.54805161G>T							p.R464R	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1508	+	Lung NSC(77;0.0178)|Renal(3;0.122)		464					Q2M1P3|Q96DQ2	Silent	SNP	ENST00000306858.7	37	c.1392G>T	CCDS34479.1																																																																																				PASS	0.438	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		17	77	17	77	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96053844	96053844	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:96053844G>C	ENST00000358812.4	+	5	1086	c.952G>C	c.(952-954)Gat>Cat	p.D318H	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	318	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.D318Y(1)|p.D318H(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAGTGGTTTTGATGGAATTTA	0.348																																						uc003poo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(952-954)GAT>CAT		mannosidase, endo-alpha							74.0	74.0	74.0					6																	96053844		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053844G>C	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.952G>C	6.37:g.96053844G>C	ENSP00000351669:p.Asp318His						p.D318H	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1092	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	318			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.952G>C	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069588	0.76301	.	.	ENSG00000172469	ENST00000358812	D	0.92299	-3.01	6.17	4.42	0.53409	.	0.043021	0.85682	D	0.000000	D	0.95345	0.8489	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.95529	0.8601	10	0.66056	D	0.02	-19.8588	12.3404	0.55091	0.1349:0.0:0.8651:0.0	.	318	Q5SRI9	MANEA_HUMAN	H	318	ENSP00000351669:D318H	ENSP00000351669:D318H	D	+	1	0	MANEA	96160565	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.314000	0.72848	0.951000	0.37770	0.655000	0.94253	GAT		PASS	0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		29	42	29	42	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127797008	127797008	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:127797008C>G	ENST00000525778.1	-	6	2908	c.2163G>C	c.(2161-2163)caG>caC	p.Q721H	SOGA3_ENST00000481848.2_Missense_Mutation_p.Q721H|SOGA3_ENST00000465909.2_Missense_Mutation_p.Q721H|SOGA3_ENST00000556132.1_Missense_Mutation_p.Q721H|SOGA3_ENST00000368268.2_Missense_Mutation_p.Q721H|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	721					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.Q721H(1)									CGTACTGCAGCTGCATGACCT	0.672																																						uc003qbd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2161-2163)CAG>CAC		hypothetical protein LOC387104 precursor							67.0	73.0	71.0					6																	127797008		2195	4298	6493	SO:0001583	missense	387104					integral to membrane		g.chr6:127797008C>G	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2163G>C	6.37:g.127797008C>G	ENSP00000434570:p.Gln721His					C6orf174_uc003qbc.2_5'Flank	p.Q721H	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3028	-			721			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.2163G>C	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208026	0.58343	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.22	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	L	0.57536	1.79	0.51767	D	0.999939	D	0.65815	0.995	D	0.67231	0.95	T	0.21724	-1.0237	10	0.87932	D	0	-19.9195	7.5563	0.27827	0.0:0.7279:0.0:0.2721	.	721	Q5TF21	CF174_HUMAN	H	721	ENSP00000451768:Q721H;ENSP00000357251:Q721H;ENSP00000434570:Q721H;ENSP00000435559:Q721H	ENSP00000435559:Q721H	Q	-	3	2	C6orf174	127838701	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.122000	0.41987	2.445000	0.82738	0.561000	0.74099	CAG		PASS	0.672	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		35	149	35	149	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129470193	129470193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr6:129470193C>T	ENST00000421865.2	+	7	1028	c.979C>T	c.(979-981)Cag>Tag	p.Q327*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	327	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.Q327*(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGGATTCCATCAGAAACCCTG	0.403																																						uc003qbn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(979-981)CAG>TAG		laminin alpha 2 subunit isoform a precursor							105.0	107.0	106.0					6																	129470193		2203	4299	6502	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129470193C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.979C>T	6.37:g.129470193C>T	ENSP00000400365:p.Gln327*					LAMA2_uc003qbo.2_Nonsense_Mutation_p.Q327*	p.Q327*	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	7	1084	+			327			Laminin EGF-like 1.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.979C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	38	7.188873	0.98121	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.3206	0.98668	0.0:1.0:0.0:0.0	.	.	.	.	X	327	.	ENSP00000346769:Q327X	Q	+	1	0	LAMA2	129511886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.688000	0.68227	2.809000	0.96659	0.655000	0.94253	CAG		PASS	0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			76	87	76	87	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7612875	7612875	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:7612875G>C	ENST00000340080.4	+	4	1190	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	MIOS_ENST00000405785.1_Missense_Mutation_p.E257Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	257						lysosomal membrane (GO:0005765)		p.E257Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TAGAAAATTTGAGAAGCCAGT	0.433																																						uc003srf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)GAG>CAG		missing oocyte, meiosis regulator, homolog							95.0	88.0	90.0					7																	7612875		1859	4081	5940	SO:0001583	missense	54468							g.chr7:7612875G>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.769G>C	7.37:g.7612875G>C	ENSP00000339881:p.Glu257Gln					MIOS_uc010ktp.1_Missense_Mutation_p.E257Q	p.E257Q	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			4	1077	+			257			WD 4.		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.769G>C	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466406	0.63625	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.65549	-0.16;-0.16	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);	0.121233	0.64402	D	0.000019	T	0.74733	0.3755	L	0.61218	1.895	0.80722	D	1	D	0.65815	0.995	D	0.65233	0.933	T	0.69243	-0.5196	10	0.23891	T	0.37	-20.0928	18.8209	0.92097	0.0:0.0:1.0:0.0	.	257	Q9NXC5	MIO_HUMAN	Q	257	ENSP00000339881:E257Q;ENSP00000384088:E257Q	ENSP00000339881:E257Q	E	+	1	0	MIOS	7579400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.850000	0.98022	0.650000	0.86243	GAG		PASS	0.433	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		59	86	59	86	---	---	---	---
EVX1	2128	broad.mit.edu	37	7	27285874	27285874	+	Missense_Mutation	SNP	T	T	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:27285874T>C	ENST00000496902.4	+	3	1540	c.1054T>C	c.(1054-1056)Tgt>Cgt	p.C352R	EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Missense_Mutation_p.C170R|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	352					embryo development ending in birth or egg hatching (GO:0009792)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C352R(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CTGCCTCGCCTGTCACAGCGG	0.766																																						uc003szd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1054-1056)TGT>CGT		even-skipped homeobox 1							3.0	4.0	4.0					7																	27285874		1230	2607	3837	SO:0001583	missense	2128					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27285874T>C		CCDS5413.1	7p15.2	2012-03-09	2007-02-15		ENSG00000106038	ENSG00000106038		"""Homeoboxes / ANTP class : HOXL subclass"""	3506	protein-coding gene	gene with protein product		142996	"""eve, even-skipped homeobox homolog 1 (Drosophila)"""			1684419	Standard	XM_005249640		Approved		uc003szd.1	P49640	OTTHUMG00000023093	ENST00000496902.4:c.1054T>C	7.37:g.27285874T>C	ENSP00000419266:p.Cys352Arg					EVX1_uc011jzn.1_Missense_Mutation_p.C170R|EVX1_uc010kuy.1_3'UTR	p.C352R	NM_001989	NP_001980	P49640	EVX1_HUMAN			3	1540	+			352					A4D199|B4DQJ0	Missense_Mutation	SNP	ENST00000496902.4	37	c.1054T>C	CCDS5413.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007829	0.75046	.	.	ENSG00000106038	ENST00000496902;ENST00000535619	D;D	0.93366	-3.13;-3.21	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.97098	0.9795	10	0.87932	D	0	-13.4908	14.6091	0.68504	0.0:0.0:0.0:1.0	.	352	P49640	EVX1_HUMAN	R	352;170	ENSP00000419266:C352R;ENSP00000446458:C170R	ENSP00000419266:C352R	C	+	1	0	EVX1	27252399	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.537000	0.82033	1.846000	0.53633	0.379000	0.24179	TGT		PASS	0.766	EVX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358750.3			2	6	2	6	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99696789	99696789	+	Missense_Mutation	SNP	G	G	A	rs549764255		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:99696789G>A	ENST00000303887.5	-	5	1084	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.R147C|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|AP4M1_ENST00000422582.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	147					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)	p.R147C(1)		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)					CGGATCACACGAGGCTTGTTG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20392	0.0		0.001	False		,,,				2504	0.0					uc003usw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)CGT>TGT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						109.0	103.0	105.0					7																	99696789		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99696789G>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.439C>T	7.37:g.99696789G>A	ENSP00000307288:p.Arg147Cys					MCM7_uc003usv.1_5'UTR|MCM7_uc003usx.1_5'UTR|AP4M1_uc011kjg.1_5'Flank|AP4M1_uc010lgl.1_5'Flank|AP4M1_uc003utb.3_5'Flank|AP4M1_uc003utc.3_5'Flank|AP4M1_uc010lgm.2_5'Flank|AP4M1_uc003utd.2_5'Flank|AP4M1_uc011kjh.1_5'Flank|AP4M1_uc003ute.3_5'Flank|AP4M1_uc003utf.3_5'Flank	p.R147C	NM_005916	NP_005907	P33993	MCM7_HUMAN			5	949	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		147					A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.439C>T	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082731	0.55861	.	.	ENSG00000166508	ENST00000343023;ENST00000303887;ENST00000542483;ENST00000362082;ENST00000425308	T;T;T	0.11495	2.77;2.77;2.77	4.58	3.7	0.42460	Nucleic acid-binding, OB-fold-like (1);	0.058273	0.64402	D	0.000003	T	0.09512	0.0234	L	0.45137	1.4	0.80722	D	1	P	0.41102	0.738	B	0.36418	0.224	T	0.10800	-1.0614	10	0.51188	T	0.08	-8.2288	10.2608	0.43425	0.0965:0.0:0.9035:0.0	.	147	P33993	MCM7_HUMAN	C	147;147;84;40;40	ENSP00000344006:R147C;ENSP00000307288:R147C;ENSP00000411295:R40C	ENSP00000307288:R147C	R	-	1	0	MCM7	99534725	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.973000	0.49264	1.153000	0.42468	0.462000	0.41574	CGT		PASS	0.517	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			59	76	59	76	---	---	---	---
IRF5	3663	broad.mit.edu	37	7	128587850	128587850	+	Silent	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:128587850C>G	ENST00000402030.2	+	7	879	c.807C>G	c.(805-807)ccC>ccG	p.P269P	IRF5_ENST00000249375.4_Silent_p.P269P|IRF5_ENST00000357234.5_Silent_p.P285P|IRF5_ENST00000477535.1_Silent_p.P183P|IRF5_ENST00000473745.1_Silent_p.P269P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	269					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P275P(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TCAGCAACCCCCATGGCTGCC	0.657																																						uc003vog.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)CCC>CCG		interferon regulatory factor 5 isoform a							23.0	27.0	26.0					7																	128587850		2203	4299	6502	SO:0001819	synonymous_variant	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587850C>G		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.807C>G	7.37:g.128587850C>G						IRF5_uc003voh.2_Silent_p.P259P|IRF5_uc010llt.2_Silent_p.P183P|IRF5_uc003voi.2_Silent_p.P259P|IRF5_uc003voj.3_Silent_p.P259P|IRF5_uc010llw.1_3'UTR	p.P275P	NM_002200	NP_002191	Q13568	IRF5_HUMAN			8	946	+			269					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Silent	SNP	ENST00000402030.2	37	c.825C>G	CCDS5808.1																																																																																				PASS	0.657	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		3	22	3	22	---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128807655	128807655	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:128807655C>T	ENST00000289407.4	+	8	901	c.792C>T	c.(790-792)atC>atT	p.I264I	Y_RNA_ENST00000363759.1_RNA|RP11-286H14.6_ENST00000498745.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	264					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.I264I(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGAATCAGATCAAAGATCAGA	0.527																																						uc003vop.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(790-792)ATC>ATT		tetraspanin 33							100.0	88.0	92.0					7																	128807655		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128807655C>T		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.792C>T	7.37:g.128807655C>T						TSPAN33_uc003voq.1_Silent_p.I96I	p.I264I	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			8	1021	+			264			Cytoplasmic (Potential).			Silent	SNP	ENST00000289407.4	37	c.792C>T	CCDS5810.1																																																																																				PASS	0.527	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		17	8	17	8	---	---	---	---
ZYX	7791	broad.mit.edu	37	7	143079462	143079462	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:143079462G>A	ENST00000322764.5	+	3	675	c.330G>A	c.(328-330)gaG>gaA	p.E110E	ZYX_ENST00000449423.2_Silent_p.E54E|ZYX_ENST00000477373.1_Intron|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	110					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E110E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCCTCTGGAGGAGGAGATCT	0.706																																						uc003wcw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)GAG>GAA		zyxin							18.0	20.0	19.0					7																	143079462		2203	4299	6502	SO:0001819	synonymous_variant	7791				cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	g.chr7:143079462G>A	X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.330G>A	7.37:g.143079462G>A						ZYX_uc011ktd.1_5'UTR|ZYX_uc003wcx.2_Silent_p.E110E|ZYX_uc011kte.1_Silent_p.E110E|ZYX_uc011ktf.1_5'UTR	p.E110E	NM_001010972	NP_001010972	Q15942	ZYX_HUMAN			3	485	+	Melanoma(164;0.205)		110					A4D2G6|Q6I9S4	Silent	SNP	ENST00000322764.5	37	c.330G>A	CCDS5883.1																																																																																				PASS	0.706	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156296.2	NM_003461		5	15	5	15	---	---	---	---
ABCF2	10061	broad.mit.edu	37	7	150923419	150923420	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr7:150923419_150923420CT>AA	ENST00000287844.2	-	2	234_235	c.125_126AG>TT	c.(124-126)aAG>aTT	p.K42I	ABCF2_ENST00000222388.2_Missense_Mutation_p.K42I	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	42					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)	p.K42I(1)|p.K42N(1)|p.K42M(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCCTCATTCTTCTCTGCCAC	0.515																																						uc003wjp.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(124-126)AAG>AAT|c.(124-126)AAG>ATG		ATP-binding cassette, sub-family F, member 2																																				SO:0001583	missense	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150923419C>A|g.chr7:150923420T>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.125_126delinsAA	7.37:g.150923419_150923420delinsAA	ENSP00000287844:p.Lys42Ile					ABCF2_uc003wjo.1_Missense_Mutation_p.K42N|ABCF2_uc003wjo.1_Missense_Mutation_p.K42M	p.K42N|p.K42M	NM_007189	NP_009120	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	237|236	-			42					O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	ENST00000287844.2	37	c.126G>T|c.125A>T	CCDS5923.1																																																																																				PASS	0.515	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692		39	140|137	39	137	---	---	---	---
HR	55806	broad.mit.edu	37	8	21982982	21982982	+	Missense_Mutation	SNP	T	T	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:21982982T>G	ENST00000381418.4	-	5	3072	c.1592A>C	c.(1591-1593)gAc>gCc	p.D531A	HR_ENST00000312841.8_Missense_Mutation_p.D531A	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	531					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.D531A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTGGCTGTGTCTTCCTCCTG	0.682																																						uc003xas.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1591-1593)GAC>GCC		hairless protein isoform a							40.0	43.0	42.0					8																	21982982		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21982982T>G	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1592A>C	8.37:g.21982982T>G	ENSP00000370826:p.Asp531Ala					HR_uc003xat.2_Missense_Mutation_p.D531A	p.D531A	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	5	2257	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	531					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.1592A>C	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.694706	0.30052	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.71934	-0.61;-0.61	4.48	2.07	0.26955	.	0.347915	0.24674	N	0.036535	T	0.57198	0.2037	L	0.53249	1.67	0.19575	N	0.999965	B;B	0.14438	0.01;0.006	B;B	0.13407	0.009;0.004	T	0.35400	-0.9790	10	0.21014	T	0.42	-15.2744	4.0882	0.09957	0.0:0.1091:0.2133:0.6775	.	531;531	O43593-2;O43593	.;HAIR_HUMAN	A	531	ENSP00000370826:D531A;ENSP00000326765:D531A	ENSP00000326765:D531A	D	-	2	0	HR	22038927	0.001000	0.12720	0.398000	0.26321	0.114000	0.19823	0.544000	0.23253	0.786000	0.33708	0.379000	0.24179	GAC		PASS	0.682	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			10	13	10	13	---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23186002	23186002	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:23186002C>T	ENST00000389131.3	-	6	1412	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	LOXL2_ENST00000518472.1_5'Flank	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	348	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.G348E(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCAGACGGTCCCCCATTCTCC	0.627																																						uc003xdh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1042-1044)GGG>GAG		lysyl oxidase-like 2 precursor							111.0	90.0	97.0					8																	23186002		2203	4300	6503	SO:0001583	missense	4017				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	g.chr8:23186002C>T	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1043G>A	8.37:g.23186002C>T	ENSP00000373783:p.Gly348Glu						p.G348E	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)	6	1382	-		Prostate(55;0.0453)|Breast(100;0.143)	348			SRCR 3.		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	c.1043G>A	CCDS34864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.274625|5.274625	0.95459|0.95459	.|.	.|.	ENSG00000134013|ENSG00000134013	ENST00000389131|ENST00000520349	T|T	0.40756|0.40756	1.02|1.02	5.38|5.38	5.38|5.38	0.77491|0.77491	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.81437|0.81437	0.4822|0.4822	H|H	0.99758|0.99758	4.755|4.755	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.90153|0.90153	0.4222|0.4222	10|8	0.87932|0.87932	D|D	0|0	.|.	17.6925|17.6925	0.88272|0.88272	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	348|.	Q9Y4K0|.	LOXL2_HUMAN|.	E|R	348|65	ENSP00000373783:G348E|ENSP00000427907:G65R	ENSP00000373783:G348E|ENSP00000427907:G65R	G|G	-|-	2|1	0|0	LOXL2|LOXL2	23241947|23241947	1.000000|1.000000	0.71417|0.71417	0.964000|0.964000	0.40570|0.40570	0.982000|0.982000	0.71751|0.71751	7.749000|7.749000	0.85096|0.85096	2.510000|2.510000	0.84645|0.84645	0.462000|0.462000	0.41574|0.41574	GGG|GGA		PASS	0.627	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			18	53	18	53	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35624453	35624453	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:35624453C>T	ENST00000404895.2	+	15	2675	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	UNC5D_ENST00000420357.1_Missense_Mutation_p.R716W|UNC5D_ENST00000416672.1_Missense_Mutation_p.R788W|UNC5D_ENST00000449677.1_Missense_Mutation_p.R359W|UNC5D_ENST00000453357.2_Missense_Mutation_p.R778W|UNC5D_ENST00000287272.2_Missense_Mutation_p.R714W	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	783					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.R778W(2)		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)		GTGCAGTAACCGGCAGCCCCT	0.582																																						uc003xjr.1																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(2347-2349)CGG>TGG		unc-5 homolog D precursor							100.0	86.0	90.0					8																	35624453		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35624453C>T	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.2347C>T	8.37:g.35624453C>T	ENSP00000385143:p.Arg783Trp					UNC5D_uc003xjs.1_Missense_Mutation_p.R778W|UNC5D_uc003xju.1_Missense_Mutation_p.R359W	p.R783W	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	15	2675	+			783			Cytoplasmic (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.2347C>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688930	0.88735	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.55413	0.55;1.01;1.01;0.55;0.52;2.46	5.79	4.0	0.46444	.	0.306161	0.36519	N	0.002543	T	0.52125	0.1715	L	0.29908	0.895	0.42202	D	0.991775	D;D;D	0.71674	0.996;0.998;0.996	P;P;P	0.53861	0.549;0.736;0.549	T	0.55579	-0.8119	10	0.72032	D	0.01	-6.814	12.461	0.55731	0.0:0.8646:0.0:0.1354	.	359;778;783	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	W	783;716;714;788;778;359	ENSP00000385143:R783W;ENSP00000392739:R716W;ENSP00000287272:R714W;ENSP00000412652:R788W;ENSP00000394303:R778W;ENSP00000397211:R359W	ENSP00000287272:R714W	R	+	1	2	UNC5D	35743995	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.346000	0.52190	0.792000	0.33850	0.655000	0.94253	CGG		PASS	0.582	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			28	19	28	19	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59410984	59410985	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:59410984_59410985AG>GT	ENST00000301645.3	-	2	261_262	c.124_125CT>AC	c.(124-126)CTg>ACg	p.L42T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	42					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L42T(1)|p.L42M(1)|p.L42P(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AGCACAGCCCAGGTATGGAATT	0.406									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(124-126)CTG>CCG|c.(124-126)CTG>ATG		cytochrome P450, family 7, subfamily A,																																				SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410984A>G|g.chr8:59410985G>T	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.124_125delinsGT	8.37:g.59410984_59410985delinsGT	ENSP00000301645:p.Leu42Thr						p.L42P|p.L42M	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	188|187	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	42					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.125T>C|c.124C>A	CCDS6171.1																																																																																				PASS	0.406	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		27	282|279	27	279	---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90926317	90926317	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:90926317C>T	ENST00000297438.2	+	3	435	c.80C>T	c.(79-81)tCa>tTa	p.S27L	OSGIN2_ENST00000451899.2_Missense_Mutation_p.S71L|OSGIN2_ENST00000520659.1_Missense_Mutation_p.S71L	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	27					meiotic nuclear division (GO:0007126)			p.S71L(1)|p.S27L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATGGACCCTCAGGAATATGC	0.358																																						uc003yeg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(79-81)TCA>TTA		oxidative stress induced growth inhibitor family							144.0	153.0	150.0					8																	90926317		2203	4300	6503	SO:0001583	missense	734				germ cell development|meiosis			g.chr8:90926317C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.80C>T	8.37:g.90926317C>T	ENSP00000297438:p.Ser27Leu					OSGIN2_uc003yeh.2_Missense_Mutation_p.S71L	p.S27L	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		3	426	+			27						Missense_Mutation	SNP	ENST00000297438.2	37	c.80C>T	CCDS6248.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267975	0.80469	.	.	ENSG00000164823	ENST00000297438;ENST00000451899;ENST00000520659	T;T;T	0.19532	2.14;2.14;2.74	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.38480	0.1042	M	0.87456	2.885	0.80722	D	1	B;B	0.24092	0.049;0.097	B;B	0.27380	0.079;0.049	T	0.32798	-0.9893	10	0.87932	D	0	-17.5612	20.4366	0.99092	0.0:1.0:0.0:0.0	.	71;27	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	L	27;71;71	ENSP00000297438:S27L;ENSP00000396445:S71L;ENSP00000431029:S71L	ENSP00000297438:S27L	S	+	2	0	OSGIN2	90995491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.409000	0.80053	2.843000	0.97960	0.585000	0.79938	TCA		PASS	0.358	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		76	308	76	308	---	---	---	---
COX6C	1345	broad.mit.edu	37	8	100904230	100904230	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:100904230G>A	ENST00000520468.2	-	2	474	c.20C>T	c.(19-21)cCa>cTa	p.P7L	COX6C_ENST00000517682.2_Missense_Mutation_p.P7L|COX6C_ENST00000524245.1_Missense_Mutation_p.P7L|COX6C_ENST00000520271.1_Missense_Mutation_p.P7L|COX6C_ENST00000522940.1_Missense_Mutation_p.P7L|COX6C_ENST00000518171.1_Missense_Mutation_p.P7L|COX6C_ENST00000297564.2_Missense_Mutation_p.P7L|COX6C_ENST00000523016.1_Missense_Mutation_p.P7L	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	7					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.P7L(2)	HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCGAGGTTTTGGCAAAACTTC	0.448			T	HMGA2	uterine leiomyoma																																NSCLC(46;1123 1136 1705 23767 45086)	uc003yiy.1				Dom	yes		8	8q22-q23	1345	T	cytochrome c oxidase subunit VIc			M	HMGA2		uterine leiomyoma	HMGA2/COX6C(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(2)	2						c.(19-21)CCA>CTA		cytochrome c oxidase subunit VIc proprotein							99.0	99.0	99.0					8																	100904230		2203	4300	6503	SO:0001583	missense	1345				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr8:100904230G>A	X13238	CCDS6284.1	8q22.2	2011-07-04			ENSG00000164919	ENSG00000164919	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2285	protein-coding gene	gene with protein product		124090				10072584	Standard	NM_004374		Approved		uc003yiy.2	P09669	OTTHUMG00000164703	ENST00000520468.2:c.20C>T	8.37:g.100904230G>A	ENSP00000428895:p.Pro7Leu						p.P7L	NM_004374	NP_004365	P09669	COX6C_HUMAN	all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		2	80	-			7			Mitochondrial matrix (By similarity).		B2R4D7	Missense_Mutation	SNP	ENST00000520468.2	37	c.20C>T	CCDS6284.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335045	0.60853	.	.	ENSG00000164919	ENST00000520468;ENST00000297564;ENST00000520271;ENST00000517682;ENST00000524245;ENST00000522940;ENST00000518171;ENST00000523016	.	.	.	5.34	5.34	0.76211	.	0.409080	0.26321	N	0.025053	T	0.43986	0.1272	.	.	.	0.21256	N	0.999745	B	0.27013	0.166	B	0.33568	0.166	T	0.40384	-0.9566	8	0.41790	T	0.15	.	16.3244	0.82970	0.0:0.0:1.0:0.0	.	7	P09669	COX6C_HUMAN	L	7	.	ENSP00000297564:P7L	P	-	2	0	COX6C	100973406	0.998000	0.40836	0.019000	0.16419	0.304000	0.27724	6.710000	0.74670	2.654000	0.90174	0.563000	0.77884	CCA		PASS	0.448	COX6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379834.3	NM_004374		141	92	141	92	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101054100	101054100	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:101054100G>C	ENST00000360863.6	-	12	2062	c.1868C>G	c.(1867-1869)tCt>tGt	p.S623C	RGS22_ENST00000523287.1_Missense_Mutation_p.S442C|RGS22_ENST00000523437.1_Missense_Mutation_p.S611C	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	623					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.S623C(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GTCAGTAAAAGATGTTAAATG	0.353																																						uc003yjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1867-1869)TCT>TGT		regulator of G-protein signaling 22							114.0	103.0	106.0					8																	101054100		1847	4087	5934	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101054100G>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1868C>G	8.37:g.101054100G>C	ENSP00000354109:p.Ser623Cys					RGS22_uc003yja.1_Missense_Mutation_p.S442C|RGS22_uc003yjc.1_Missense_Mutation_p.S611C|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.S623C	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		12	2063	-			623					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1868C>G	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262577	0.39995	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.35421	1.32;1.31;1.32	5.63	5.63	0.86233	.	0.100353	0.48767	D	0.000177	T	0.44286	0.1286	L	0.27053	0.805	0.28442	N	0.916779	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.956;0.956;0.994	T	0.35649	-0.9780	10	0.48119	T	0.1	.	10.6624	0.45710	0.0862:0.0:0.9138:0.0	.	611;623;442	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	C	623;611;442;611	ENSP00000354109:S623C;ENSP00000429382:S442C;ENSP00000428212:S611C	ENSP00000354109:S623C	S	-	2	0	RGS22	101123276	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	1.083000	0.30815	2.652000	0.90054	0.655000	0.94253	TCT		PASS	0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		43	51	43	51	---	---	---	---
FBXO43	286151	broad.mit.edu	37	8	101146458	101146459	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:101146458_101146459TC>AA	ENST00000428847.2	-	4	2124_2125	c.1808_1809GA>TT	c.(1807-1809)gGA>gTT	p.G603V		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	603					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G569V(4)|p.G569G(2)|p.G603V(2)|p.G603G(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAAAACTTCTCCCCAGGGAGA	0.411																																						uc003yjd.2																			9	Substitution - Missense(6)|Substitution - coding silent(3)		lung(9)	kidney(1)|skin(1)	2						c.(1807-1809)GGA>GGT|c.(1807-1809)GGA>GTA		F-box protein 43 isoform b																																				SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101146458T>A|g.chr8:101146459C>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1808_1809delinsAA	8.37:g.101146458_101146459delinsAA	ENSP00000403293:p.Gly603Val					FBXO43_uc003yje.2_Silent_p.G569G|FBXO43_uc003yje.2_Missense_Mutation_p.G569V	p.G603G|p.G603V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		4	2522|2521	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		603						Silent|Missense_Mutation	SNP	ENST00000428847.2	37	c.1809A>T|c.1808G>T	CCDS47904.1																																																																																				PASS	0.411	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		22|24	206|208	22	206	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144997746	144997746	+	Silent	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:144997746C>A	ENST00000322810.4	-	31	6931	c.6762G>T	c.(6760-6762)ctG>ctT	p.L2254L	PLEC_ENST00000354958.2_Silent_p.L2095L|PLEC_ENST00000357649.2_Silent_p.L2121L|PLEC_ENST00000398774.2_Silent_p.L2085L|PLEC_ENST00000436759.2_Silent_p.L2144L|PLEC_ENST00000354589.3_Silent_p.L2117L|PLEC_ENST00000527096.1_Silent_p.L2140L|PLEC_ENST00000356346.3_Silent_p.L2103L|PLEC_ENST00000345136.3_Silent_p.L2117L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2254	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.L2254L(1)|p.L2144L(1)|p.L2117L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGACTGCTTCAGCCGCTCGG	0.761																																						uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6760-6762)CTG>CTT		plectin isoform 1							7.0	9.0	9.0					8																	144997746		1924	3985	5909	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997746C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6762G>T	8.37:g.144997746C>A						PLEC_uc003zab.1_Silent_p.L2117L|PLEC_uc003zac.1_Silent_p.L2121L|PLEC_uc003zad.2_Silent_p.L2117L|PLEC_uc003zae.1_Silent_p.L2085L|PLEC_uc003zag.1_Silent_p.L2095L|PLEC_uc003zah.2_Silent_p.L2103L|PLEC_uc003zaj.2_Silent_p.L2144L	p.L2254L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6932	-			2254			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6762G>T	CCDS43772.1																																																																																				PASS	0.761	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		20	35	20	35	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145151959	145151959	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:145151959G>C	ENST00000318911.4	+	6	868	c.795G>C	c.(793-795)caG>caC	p.Q265H	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	265					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Q265H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCATGTCCCAGATAGCCAAGG	0.582																																						uc003zaz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(793-795)CAG>CAC		cytochrome c-1							73.0	47.0	55.0					8																	145151959		2201	4300	6501	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151959G>C	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.795G>C	8.37:g.145151959G>C	ENSP00000317159:p.Gln265His					CYC1_uc003zay.2_Missense_Mutation_p.Q206H	p.Q265H	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	838	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		265					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.795G>C	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415527	0.62511	.	.	ENSG00000179091	ENST00000318911	T	0.53423	0.62	4.81	2.96	0.34315	Cytochrome c domain (2);	0.116067	0.64402	D	0.000013	T	0.66187	0.2764	M	0.81682	2.555	0.53688	D	0.999971	D	0.89917	1.0	D	0.85130	0.997	T	0.66606	-0.5881	10	0.87932	D	0	-23.7866	8.8612	0.35258	0.1924:0.0:0.8076:0.0	.	265	P08574	CY1_HUMAN	H	265	ENSP00000317159:Q265H	ENSP00000317159:Q265H	Q	+	3	2	CYC1	145223947	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.800000	0.47900	0.529000	0.28599	0.561000	0.74099	CAG		PASS	0.582	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		16	12	16	12	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145152203	145152203	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:145152203G>A	ENST00000318911.4	+	7	1015	c.942G>A	c.(940-942)ctG>ctA	p.L314L	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	314					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L314L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCAGTCCTGAAGAGTCGGA	0.577																																						uc003zaz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(940-942)CTG>CTA		cytochrome c-1							117.0	95.0	103.0					8																	145152203		2203	4300	6503	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145152203G>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.942G>A	8.37:g.145152203G>A						CYC1_uc003zay.2_Silent_p.L255L	p.L314L	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	985	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		314					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.942G>A	CCDS6415.1																																																																																				PASS	0.577	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		40	30	40	30	---	---	---	---
TONSL	4796	broad.mit.edu	37	8	145659005	145659005	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr8:145659005C>T	ENST00000409379.3	-	22	3554	c.3525G>A	c.(3523-3525)ctG>ctA	p.L1175L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1175					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.L1175L(1)|p.L1016L(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TCTGGTGGCTCAGAAAGAAGC	0.642																																						uc011llg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(3523-3525)CTG>CTA		NF-kappa-B inhibitor-like protein 2							62.0	68.0	66.0					8																	145659005		2202	4300	6502	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145659005C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3525G>A	8.37:g.145659005C>T						uc011llh.1_5'Flank	p.L1175L	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		22	3540	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1175					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.3525G>A	CCDS34968.2																																																																																				PASS	0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2	NM_013432		43	141	43	141	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40772474	40772474	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:40772474C>A	ENST00000602553.1	-	5	3095	c.2801G>T	c.(2800-2802)gGg>gTg	p.G934V	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.G934V			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G934V(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTTCTCCCCCGTATGAAC	0.438																																						uc004abs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2800-2802)GGG>GTG		zinc finger protein 658							93.0	96.0	95.0					9																	40772474		2200	4281	6481	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772474C>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2801G>T	9.37:g.40772474C>A	ENSP00000473484:p.Gly934Val					ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G934V	p.G934V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2953	-			934					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2801G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	13.21	2.167996	0.38315	.	.	ENSG00000196409	ENST00000377626	T	0.01599	4.74	1.86	1.86	0.25419	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08403	0.0209	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.04840	-1.0923	9	0.87932	D	0	.	9.7851	0.40670	0.0:1.0:0.0:0.0	.	934	Q5TYW1	ZN658_HUMAN	V	934	ENSP00000366853:G934V	ENSP00000366853:G934V	G	-	2	0	ZNF658	40762474	0.316000	0.24580	0.014000	0.15608	0.922000	0.55478	1.683000	0.37638	1.377000	0.46286	0.518000	0.50308	GGG		PASS	0.438	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		47	323	47	323	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40772516	40772516	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:40772516G>A	ENST00000602553.1	-	5	3053	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.S920F			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	920					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S920F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGACTTCTCAGAGAAGGTTTT	0.453																																						uc004abs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2758-2760)TCT>TTT		zinc finger protein 658							71.0	75.0	74.0					9																	40772516		2200	4279	6479	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772516G>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2759C>T	9.37:g.40772516G>A	ENSP00000473484:p.Ser920Phe					ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.S920F	p.S920F	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2911	-			920			C2H2-type 20.		Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2759C>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	g	10.95	1.495681	0.26774	.	.	ENSG00000196409	ENST00000377626	T	0.08008	3.14	1.86	-0.252	0.12999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15089	0.0364	L	0.60957	1.885	0.09310	N	1	D	0.58620	0.983	P	0.59056	0.851	T	0.16394	-1.0404	9	0.33940	T	0.23	.	4.6117	0.12406	0.1565:0.2284:0.6152:0.0	.	920	Q5TYW1	ZN658_HUMAN	F	920	ENSP00000366853:S920F	ENSP00000366853:S920F	S	-	2	0	ZNF658	40762516	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	0.222000	0.17699	-0.047000	0.13423	0.518000	0.50308	TCT		PASS	0.453	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		45	296	45	296	---	---	---	---
TMEM246	84302	broad.mit.edu	37	9	104239109	104239109	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:104239109G>A	ENST00000374851.1	-	4	1413	c.266C>T	c.(265-267)tCa>tTa	p.S89L	TMEM246_ENST00000374848.3_Missense_Mutation_p.S89L|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S89L|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	89						integral component of membrane (GO:0016021)		p.S89L(1)									AATGGGCACTGAGCCATTGGC	0.577																																						uc004bbm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(265-267)TCA>TTA		hypothetical protein LOC84302							49.0	48.0	48.0					9																	104239109		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104239109G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.266C>T	9.37:g.104239109G>A	ENSP00000363984:p.Ser89Leu					uc004bbl.1_5'Flank	p.S89L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	588	-		Acute lymphoblastic leukemia(62;0.0527)	89					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.266C>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	g	13.73	2.325351	0.41197	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.63	5.63	0.86233	.	0.601698	0.15437	N	0.262407	T	0.32645	0.0836	N	0.22421	0.69	0.09310	N	0.999999	B	0.29552	0.248	B	0.26202	0.067	T	0.13150	-1.0520	9	0.23891	T	0.37	-9.0544	18.6929	0.91589	0.0:0.0:1.0:0.0	.	89	Q9BRR3	CI125_HUMAN	L	89	.	ENSP00000363980:S89L	S	-	2	0	C9orf125	103278930	0.939000	0.31865	0.944000	0.38274	0.961000	0.63080	3.871000	0.56077	2.636000	0.89361	0.645000	0.84053	TCA		PASS	0.577	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		17	51	17	51	---	---	---	---
CTNNAL1	8727	broad.mit.edu	37	9	111734973	111734973	+	Silent	SNP	C	C	T	rs537065011		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:111734973C>T	ENST00000325551.4	-	9	1415	c.1329G>A	c.(1327-1329)caG>caA	p.Q443Q	CTNNAL1_ENST00000374595.4_Silent_p.Q443Q|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	443					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.Q443Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GCTGCTCTTTCTGTTCAGAGA	0.343																																						uc004bdo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1327-1329)CAG>CAA		catenin, alpha-like 1							110.0	113.0	112.0					9																	111734973		2203	4300	6503	SO:0001819	synonymous_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111734973C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1329G>A	9.37:g.111734973C>T						CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Silent_p.Q443Q|CTNNAL1_uc004bdp.1_Silent_p.Q443Q|CTNNAL1_uc004bdq.1_5'UTR	p.Q443Q	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1371	-			443					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Silent	SNP	ENST00000325551.4	37	c.1329G>A	CCDS6775.1																																																																																				PASS	0.343	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		63	78	63	78	---	---	---	---
QSOX2	169714	broad.mit.edu	37	9	139103153	139103153	+	Silent	SNP	G	G	A	rs369245620		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:139103153G>A	ENST00000358701.5	-	11	1543	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	502	ERV/ALR sulfhydryl oxidase. {ECO:0000255|PROSITE-ProRule:PRU00654}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)	p.L502L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		TCCACAGCCAGAGGATGGCTT	0.572																																						uc010nbi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1504-1506)CTC>CTT		quiescin Q6 sulfhydryl oxidase 2 precursor		G		0,4406		0,0,2203	127.0	102.0	111.0		1506	-1.2	0.9	9		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	QSOX2	NM_181701.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		502/699	139103153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169714				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	g.chr9:139103153G>A	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1506C>T	9.37:g.139103153G>A							p.L502L	NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)	11	1544	-		Myeloproliferative disorder(178;0.0511)	502			ERV/ALR sulfhydryl oxidase.		A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Silent	SNP	ENST00000358701.5	37	c.1506C>T	CCDS35178.1																																																																																				PASS	0.572	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055046.2	NM_181701		39	64	39	64	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139282968	139282968	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:139282968C>T	ENST00000298532.2	-	10	1419	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.E351K(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCTCCTCCTCTGTCCACTCC	0.612																																						uc004chh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)GAG>AAG		small nuclear RNA activating complex,							126.0	98.0	108.0					9																	139282968		2203	4300	6503	SO:0001583	missense	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139282968C>T	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1051G>A	9.37:g.139282968C>T	ENSP00000298532:p.Glu351Lys						p.E351K	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	10	1060	-		Myeloproliferative disorder(178;0.0511)	351			Myb-like 2.			Missense_Mutation	SNP	ENST00000298532.2	37	c.1051G>A	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	C	3.837	-0.034549	0.07543	.	.	ENSG00000165684	ENST00000298532	T	0.28454	1.61	5.21	1.77	0.24775	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (2);MYB-like (1);	0.458545	0.23591	N	0.046556	T	0.10809	0.0264	N	0.11341	0.13	0.22693	N	0.998842	B	0.27791	0.189	B	0.27380	0.079	T	0.32402	-0.9908	10	0.02654	T	1	-23.4198	4.1665	0.10308	0.0:0.265:0.5266:0.2085	.	351	Q5SXM2	SNPC4_HUMAN	K	351	ENSP00000298532:E351K	ENSP00000298532:E351K	E	-	1	0	SNAPC4	138402789	0.002000	0.14202	0.588000	0.28705	0.536000	0.34869	0.665000	0.25083	0.536000	0.28733	0.561000	0.74099	GAG		PASS	0.612	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		42	61	42	61	---	---	---	---
C9orf173	441476	broad.mit.edu	37	9	140146534	140146534	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:140146534G>C	ENST00000412566.1	+	3	359	c.350G>C	c.(349-351)cGa>cCa	p.R117P	C9orf173_ENST00000388931.3_Missense_Mutation_p.R117P			Q8N7X2	CI173_HUMAN	chromosome 9 open reading frame 173	117								p.R117P(1)		kidney(1)|large_intestine(1)|lung(5)|pancreas(1)	8						CCGTCCGTACGAGAGTCCTCC	0.672																																						uc004cmk.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(346-348)CGA>CCA		SubName: Full=LOC441476 protein;							42.0	51.0	48.0					9																	140146534		2053	4175	6228	SO:0001583	missense	441476							g.chr9:140146534G>C		CCDS48065.1, CCDS59156.1, CCDS75940.1, CCDS75941.1	9q34.3	2009-10-02			ENSG00000197768	ENSG00000197768			37285	protein-coding gene	gene with protein product							Standard	NM_001256699		Approved	FLJ40246	uc004cmk.2	Q8N7X2		ENST00000412566.1:c.350G>C	9.37:g.140146534G>C	ENSP00000391218:p.Arg117Pro					C9orf173_uc004cmj.1_Missense_Mutation_p.R117P|C9orf173_uc011meu.1_Intron|C9orf173_uc010ncd.1_Intron|C9orf173_uc011mev.1_Missense_Mutation_p.R116P|C9orf173_uc004cml.1_Missense_Mutation_p.R116P	p.R116P			Q8N7X2	CI173_HUMAN			3	359	+			117					A2RU24|B7ZM72|B7ZM76|Q8NEA3	Missense_Mutation	SNP	ENST00000412566.1	37	c.347G>C	CCDS48065.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619090	0.28801	.	.	ENSG00000197768	ENST00000388931;ENST00000412566	T;T	0.53640	0.61;0.67	3.89	3.89	0.44902	.	0.000000	0.32081	N	0.006617	T	0.59810	0.2221	L	0.50333	1.59	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.49551	-0.8928	10	0.52906	T	0.07	-8.4192	11.2045	0.48760	0.0:0.0:1.0:0.0	.	117;117;117;117	B7ZM74;Q8N7X2-3;Q8N7X2-2;Q8N7X2-4	.;.;.;.	P	117	ENSP00000373583:R117P;ENSP00000391218:R117P	ENSP00000373583:R117P	R	+	2	0	C9orf173	139266355	0.319000	0.24607	0.038000	0.18304	0.114000	0.19823	1.415000	0.34748	1.995000	0.58328	0.491000	0.48974	CGA		PASS	0.672	C9orf173-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004353		24	40	24	40	---	---	---	---
NELFB	25920	broad.mit.edu	37	9	140150507	140150507	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr9:140150507G>A	ENST00000343053.4	+	2	588	c.251G>A	c.(250-252)gGg>gAg	p.G84E		NM_015456.3	NP_056271.2	Q8WX92	NELFB_HUMAN	negative elongation factor complex member B	84					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G84E(1)									GCTTCGGAGGGGAAGGCTGAG	0.617																																						uc004cmm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GGG>GAG		cofactor of BRCA1							58.0	61.0	60.0					9																	140150507		2203	4299	6502	SO:0001583	missense	25920				negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding	g.chr9:140150507G>A	AF464935	CCDS7040.1	9q34	2013-01-31	2013-01-31	2013-01-31	ENSG00000188986	ENSG00000188986			24324	protein-coding gene	gene with protein product		611180	"""cofactor of BRCA1"""	COBRA1		11230166, 10574461, 17910036, 17659869	Standard	NM_015456		Approved	KIAA1182, NELF-B	uc004cmm.4	Q8WX92	OTTHUMG00000131778	ENST00000343053.4:c.251G>A	9.37:g.140150507G>A	ENSP00000339495:p.Gly84Glu						p.G84E	NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)	2	454	+	all_cancers(76;0.0926)		84					A2BFA3|Q96EW5|Q9H9R4|Q9ULN8|Q9Y3W0	Missense_Mutation	SNP	ENST00000343053.4	37	c.251G>A	CCDS7040.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710493	0.68730	.	.	ENSG00000188986	ENST00000343053	.	.	.	4.74	4.74	0.60224	.	0.048788	0.85682	D	0.000000	T	0.33527	0.0866	N	0.25647	0.755	0.80722	D	1	P	0.35077	0.483	B	0.30943	0.122	T	0.12760	-1.0535	9	0.15066	T	0.55	-53.8423	10.0408	0.42158	0.0938:0.0:0.9062:0.0	.	84	Q8WX92	NELFB_HUMAN	E	84	.	ENSP00000339495:G84E	G	+	2	0	COBRA1	139270328	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.718000	0.98758	2.175000	0.68902	0.561000	0.74099	GGG		PASS	0.617	NELFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254710.1	NM_015456		17	119	17	119	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27389215	27389216	+	Missense_Mutation	DNP	CC	CC	GA	rs201068693	byFrequency	TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:27389215_27389216CC>GA	ENST00000376087.4	-	1	205_206	c.40_41GG>TC	c.(40-42)GGc>TCc	p.G14S	ANKRD26_ENST00000436985.2_Missense_Mutation_p.G14S	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	14					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.G14C(1)|p.G14A(1)|p.G14S(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						CGCGAAGGAGCCCAAGGGCGAC	0.668																																						uc001ith.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(40-42)GGC>GCC|c.(40-42)GGC>TGC		ankyrin repeat domain 26																																				SO:0001583	missense	22852					centrosome		g.chr10:27389215C>G|g.chr10:27389216C>A	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.40_41delinsGA	10.37:g.27389215_27389216delinsGA	ENSP00000365255:p.Gly14Ser					ANKRD26_uc009xku.1_Missense_Mutation_p.G14A|ANKRD26_uc009xku.1_Missense_Mutation_p.G14C	p.G14A|p.G14C	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			1	213|212	-			14					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.41G>C|c.40G>T	CCDS41499.1																																																																																				PASS	0.668	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			12|13	39	12	39	---	---	---	---
ZNF33A	7581	broad.mit.edu	37	10	38345001	38345001	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:38345001C>T	ENST00000458705.2	+	5	2104	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S656L|ZNF33A_ENST00000374618.3_Missense_Mutation_p.S650L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S649L			Q06730	ZN33A_HUMAN	zinc finger protein 33A	649					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S649L(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TGCCATAAGTCAGCTCTAATT	0.378																																						uc001izh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1945-1947)TCA>TTA		zinc finger protein 33A isoform b							98.0	104.0	102.0					10																	38345001		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38345001C>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1946C>T	10.37:g.38345001C>T	ENSP00000387713:p.Ser649Leu					ZNF33A_uc001izg.2_Missense_Mutation_p.S650L|ZNF33A_uc010qev.1_Missense_Mutation_p.S656L|ZNF33A_uc001izi.1_Intron	p.S649L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN			5	2124	+			649			C2H2-type 12.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1946C>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503521	0.26949	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	1.69	0.712	0.18167	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.28933	N	0.013667	T	0.48943	0.1528	M	0.65677	2.01	0.09310	N	1	D;D;D	0.76494	0.988;0.981;0.999	P;P;D	0.72338	0.778;0.816;0.977	T	0.16689	-1.0394	10	0.54805	T	0.06	.	5.6393	0.17554	0.0:0.79:0.0:0.21	.	656;649;650	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	650;656;649;649	ENSP00000363747:S650L;ENSP00000402467:S656L;ENSP00000387713:S649L;ENSP00000304268:S649L	ENSP00000304268:S649L	S	+	2	0	ZNF33A	38385007	0.000000	0.05858	0.999000	0.59377	0.792000	0.44763	0.306000	0.19279	0.902000	0.36520	0.313000	0.20887	TCA		PASS	0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		84	32	84	32	---	---	---	---
FRMPD2	143162	broad.mit.edu	37	10	49430397	49430397	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:49430397C>A	ENST00000374201.3	-	12	1716	c.1414G>T	c.(1414-1416)Gtc>Ttc	p.V472F	FRMPD2_ENST00000407470.4_Missense_Mutation_p.V441F|FRMPD2_ENST00000305531.3_Missense_Mutation_p.V448F	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	472	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.V472F(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AAGGCAAGGACCCCCAGCTGC	0.532																																						uc001jgi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1414-1416)GTC>TTC		FERM and PDZ domain containing 2 isoform 3							144.0	132.0	136.0					10																	49430397		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49430397C>A	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1414G>T	10.37:g.49430397C>A	ENSP00000363317:p.Val472Phe					FRMPD2_uc001jgh.2_Missense_Mutation_p.V441F|FRMPD2_uc001jgj.2_Missense_Mutation_p.V450F	p.V472F	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	12	1521	-			472			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1414G>T	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536064	0.45176	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.29917	1.55;1.55;1.55	5.24	4.27	0.50696	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	T	0.44787	0.1310	L	0.51422	1.61	0.27682	N	0.946405	D;D;D	0.59767	0.986;0.984;0.986	P;P;P	0.62560	0.656;0.904;0.656	T	0.22661	-1.0210	9	0.66056	D	0.02	.	10.2718	0.43487	0.317:0.683:0.0:0.0	.	448;472;441	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	F	472;448;441	ENSP00000363317:V472F;ENSP00000307079:V448F;ENSP00000384339:V441F	ENSP00000307079:V448F	V	-	1	0	FRMPD2	49100403	0.977000	0.34250	0.940000	0.37924	0.262000	0.26303	2.379000	0.44318	2.463000	0.83235	0.555000	0.69702	GTC		PASS	0.532	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		14	245	14	245	---	---	---	---
PSAP	5660	broad.mit.edu	37	10	73574711	73574711	+	IGR	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:73574711G>C	ENST00000394936.3	-	0	2866				CDH23_ENST00000224721.6_Silent_p.L3252L|CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.L1007L			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)	p.L3252L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TCTTGCAGCTGATACAGACTG	0.652																																						uc001jrx.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9739-9741)CTG>CTC		cadherin-like 23 isoform 1 precursor							13.0	16.0	15.0					10																	73574711		2006	4147	6153	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574711G>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574711G>C						CDH23_uc001jsg.3_Silent_p.L1007L|CDH23_uc001jsh.3_Silent_p.L972L|CDH23_uc001jsi.3_Silent_p.L972L|CDH23_uc001jsj.3_Silent_p.L144L|CDH23_uc010qjr.1_Silent_p.L109L	p.L3247L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			68	10118	+			3247			Cytoplasmic (Potential).		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.9741G>C	CCDS7311.1																																																																																				PASS	0.652	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		6	18	6	18	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75276202	75276202	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:75276202G>T	ENST00000339859.4	-	19	4082	c.3982C>A	c.(3982-3984)Cag>Aag	p.Q1328K	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.Q1328K|USP54_ENST00000422491.2_Missense_Mutation_p.Q510K|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.Q1178K|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.Q416K|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1328					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.Q416K(1)|p.Q1328K(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TGAGAAGCCTGAAGACTGGCC	0.532																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			2	Substitution - Missense(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(3982-3984)CAG>AAG		ubiquitin specific peptidase 54							95.0	95.0	95.0					10																	75276202		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75276202G>T	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3982C>A	10.37:g.75276202G>T	ENSP00000345216:p.Gln1328Lys					USP54_uc010qkk.1_Missense_Mutation_p.Q510K|USP54_uc001juk.2_Missense_Mutation_p.Q416K|USP54_uc001jul.2_Missense_Mutation_p.Q416K|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.Q1328K	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	3999	-	Prostate(51;0.0112)		1328					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.3982C>A	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239774	0.39598	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.29142	1.89;1.89;1.85;1.58;1.65	5.87	5.87	0.94306	.	.	.	.	.	T	0.36991	0.0987	L	0.49350	1.555	0.80722	D	1	P;B	0.51351	0.944;0.009	B;B	0.44108	0.441;0.003	T	0.09618	-1.0666	9	0.52906	T	0.07	-2.3411	20.2245	0.98337	0.0:0.0:1.0:0.0	.	510;1328	E7EW90;Q70EL1	.;UBP54_HUMAN	K	1328;1328;1178;416;510	ENSP00000345216:Q1328K;ENSP00000386080:Q1328K;ENSP00000408714:Q1178K;ENSP00000378290:Q416K;ENSP00000407368:Q510K	ENSP00000345216:Q1328K	Q	-	1	0	USP54	74946208	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	3.575000	0.53870	2.770000	0.95276	0.650000	0.86243	CAG		PASS	0.532	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		46	62	46	62	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	79011015	79011015	+	Splice_Site	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:79011015C>T	ENST00000286628.8	-	3	540		c.e3-1		KCNMA1_ENST00000354353.5_Splice_Site|KCNMA1_ENST00000406533.3_Splice_Site|KCNMA1_ENST00000404857.1_Splice_Site|KCNMA1_ENST00000404771.3_Splice_Site|KCNMA1_ENST00000372440.1_Splice_Site|KCNMA1_ENST00000372443.1_Splice_Site|KCNMA1_ENST00000286627.5_Splice_Site	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.?(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTAAGACAACCTGTAAAAGAA	0.398											OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jxn.2																			2	Unknown(2)		lung(2)	pancreas(2)|ovary(1)	3						c.e3-1		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						116.0	119.0	118.0					10																	79011015		2203	4300	6503	SO:0001630	splice_region_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79011015C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.541-1G>A	10.37:g.79011015C>T			OREG0020289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1187	KCNMA1_uc001jxj.2_Splice_Site_p.V181_splice|KCNMA1_uc009xrt.1_Splice_Site|KCNMA1_uc001jxo.2_Splice_Site_p.V181_splice|KCNMA1_uc001jxm.2_Splice_Site_p.V181_splice|KCNMA1_uc001jxq.2_Splice_Site_p.V181_splice	p.V181_splice	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		3	718	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)							F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Splice_Site	SNP	ENST00000286628.8	37	c.541_splice		.	.	.	.	.	.	.	.	.	.	C	24.0	4.481216	0.84747	.	.	ENSG00000156113	ENST00000372421;ENST00000372440;ENST00000372403;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5571	0.87894	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNMA1	78681021	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.314000	0.72848	2.660000	0.90430	0.650000	0.86243	.		PASS	0.398	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	Intron	9	35	9	35	---	---	---	---
ANXA11	311	broad.mit.edu	37	10	81917738	81917738	+	Silent	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:81917738G>T	ENST00000438331.1	-	15	1802	c.1320C>A	c.(1318-1320)ctC>ctA	p.L440L	ANXA11_ENST00000360615.4_Silent_p.L440L|ANXA11_ENST00000265447.4_Silent_p.L440L|ANXA11_ENST00000537102.1_Silent_p.L407L|ANXA11_ENST00000422982.3_Silent_p.L440L|ANXA11_ENST00000372231.3_Silent_p.L440L|ANXA11_ENST00000535999.1_Silent_p.L440L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	440					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.L440L(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TGGCCTTGTTGAGCCTCTCCG	0.537																																						uc001kbq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1318-1320)CTC>CTA		annexin A11							147.0	132.0	137.0					10																	81917738		2203	4300	6503	SO:0001819	synonymous_variant	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81917738G>T	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.1320C>A	10.37:g.81917738G>T						ANXA11_uc010qlx.1_Silent_p.L540L|ANXA11_uc001kbr.1_Silent_p.L440L|ANXA11_uc001kbs.1_Silent_p.L440L|ANXA11_uc001kbt.1_Silent_p.L440L|ANXA11_uc010qly.1_Silent_p.L407L|ANXA11_uc009xsq.1_Silent_p.L444L|ANXA11_uc001kbu.1_Silent_p.L440L	p.L440L	NM_145869	NP_665876	P50995	ANX11_HUMAN	Colorectal(32;0.109)		15	2145	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		440			Annexin 4.		B4DVE7	Silent	SNP	ENST00000438331.1	37	c.1320C>A	CCDS7364.1	.	.	.	.	.	.	.	.	.	.	G	8.923	0.961592	0.18583	.	.	ENSG00000122359	ENST00000447489	.	.	.	4.62	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.924	0.58249	0.0:0.1654:0.8345:0.0	.	.	.	.	X	73	.	.	S	-	2	0	ANXA11	81907718	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.088000	0.41663	1.206000	0.43276	0.563000	0.77884	TCA		PASS	0.537	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	NM_145869		13	87	13	87	---	---	---	---
HPSE2	60495	broad.mit.edu	37	10	100481512	100481512	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:100481512C>T	ENST00000370552.3	-	5	917	c.858G>A	c.(856-858)ctG>ctA	p.L286L	HPSE2_ENST00000404542.1_Silent_p.L174L|HPSE2_ENST00000370549.1_Silent_p.L228L|HPSE2_ENST00000370546.1_Silent_p.L286L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	286					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.L286L(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACAGGCTCTTCAGCTGGATGT	0.498																																						uc001kpn.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(856-858)CTG>CTA		heparanase 2							85.0	77.0	80.0					10																	100481512		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100481512C>T	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.858G>A	10.37:g.100481512C>T						HPSE2_uc009xwc.1_Silent_p.L276L|HPSE2_uc001kpo.1_Silent_p.L218L|HPSE2_uc009xwd.1_Silent_p.L164L	p.L286L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	5	918	-			286					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.858G>A	CCDS7477.1																																																																																				PASS	0.498	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		77	90	77	90	---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104865481	104865481	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:104865481C>G	ENST00000404739.3	-	4	394	c.371G>C	c.(370-372)gGa>gCa	p.G124A	NT5C2_ENST00000343289.5_Missense_Mutation_p.G124A|NT5C2_ENST00000423468.2_Missense_Mutation_p.G95A|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	124					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)	p.G124A(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AAAGTTAAATCCATGTGCACA	0.378																																						uc001kwo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GGA>GCA		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						138.0	129.0	132.0					10																	104865481		2203	4300	6503	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104865481C>G	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.371G>C	10.37:g.104865481C>G	ENSP00000383960:p.Gly124Ala					NT5C2_uc010qqp.1_Missense_Mutation_p.G95A|NT5C2_uc001kwq.2_Missense_Mutation_p.G124A|NT5C2_uc001kwp.2_5'UTR	p.G124A	NM_012229	NP_036361	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	6	557	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	124					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.371G>C	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030309	0.93575	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	6.17	6.17	0.99709	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.96604	3.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93275	0.6655	10	0.87932	D	0	-11.3563	20.8794	0.99867	0.0:1.0:0.0:0.0	.	95;124	B7Z382;P49902	.;5NTC_HUMAN	A	124;124;95;124;47;72	ENSP00000339479:G124A;ENSP00000383960:G124A;ENSP00000392236:G95A;ENSP00000396468:G124A;ENSP00000411330:G47A	ENSP00000339479:G124A	G	-	2	0	NT5C2	104855471	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGA		PASS	0.378	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1	NM_012229		53	81	53	81	---	---	---	---
ATE1	11101	broad.mit.edu	37	10	123658405	123658405	+	Intron	SNP	T	T	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:123658405T>C	ENST00000224652.6	-	7	1028				ATE1_ENST00000540606.1_Missense_Mutation_p.Y291C|ATE1_ENST00000369043.3_Missense_Mutation_p.Y298C|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.Y202C|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.Y298C(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGCCACTTGATACTTGACATA	0.438																																						uc001lfp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(892-894)TAT>TGT		arginyltransferase 1 isoform 2							200.0	166.0	177.0					10																	123658405		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658405T>C	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+975A>G	10.37:g.123658405T>C						ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Missense_Mutation_p.Y202C|ATE1_uc010qtt.1_Missense_Mutation_p.Y291C|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron	p.Y298C	NM_007041	NP_008972	O95260	ATE1_HUMAN			7	975	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	298					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.893A>G	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213130	0.79352	.	.	ENSG00000107669	ENST00000369043;ENST00000369040;ENST00000540606	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	H	0.98525	4.255	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	D	0.94117	0.7376	9	0.87932	D	0	-13.2406	15.8843	0.79232	0.0:0.0:0.0:1.0	.	291;202;298	F5GXE4;B4E107;O95260-2	.;.;.	C	298;202;291	.	ENSP00000358036:Y202C	Y	-	2	0	ATE1	123648395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.164000	0.68074	0.533000	0.62120	TAT		PASS	0.438	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		42	68	42	68	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127824200	127824200	+	Silent	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr10:127824200C>A	ENST00000368679.4	-	5	687	c.378G>T	c.(376-378)cgG>cgT	p.R126R	ADAM12_ENST00000368676.4_Silent_p.R126R	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	126					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.R126R(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGAATATCCCCGTACATGTC	0.468																																						uc001ljk.2																			3	Substitution - coding silent(3)		lung(3)	breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	9						c.(376-378)CGG>CGT		ADAM metallopeptidase domain 12 isoform 1							154.0	117.0	130.0					10																	127824200		2203	4300	6503	SO:0001819	synonymous_variant	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127824200C>A	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.378G>T	10.37:g.127824200C>A						ADAM12_uc010qul.1_Silent_p.R123R|ADAM12_uc001ljm.2_Silent_p.R126R|ADAM12_uc001ljn.2_Silent_p.R123R|ADAM12_uc001ljl.3_Silent_p.R123R	p.R126R	NM_003474	NP_003465	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	5	791	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	126					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Silent	SNP	ENST00000368679.4	37	c.378G>T	CCDS7653.1																																																																																				PASS	0.468	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			7	58	7	58	---	---	---	---
PKP3	11187	broad.mit.edu	37	11	399030	399030	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:399030C>T	ENST00000331563.2	+	5	1183	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	369					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)	p.L369L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGAAGCTCTTCAACCACG	0.612																																						uc001lpc.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1105-1107)CTC>CTT		plakophilin 3							121.0	102.0	108.0					11																	399030		2198	4292	6490	SO:0001819	synonymous_variant	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:399030C>T	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1107C>T	11.37:g.399030C>T							p.L369L	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1183	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	369			ARM 2.		F8J390|Q53EX8	Silent	SNP	ENST00000331563.2	37	c.1107C>T	CCDS7695.1																																																																																				PASS	0.612	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		15	87	15	87	---	---	---	---
OR52R1	119695	broad.mit.edu	37	11	4825572	4825572	+	Silent	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:4825572C>A	ENST00000356069.2	-	1	38	c.39G>T	c.(37-39)gtG>gtT	p.V13V	OR52R1_ENST00000380382.1_Silent_p.V92V|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V92V(1)|p.V12V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAAGGACACAGGATGAG	0.488																																						uc010qym.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(274-276)GTG>GTT		olfactory receptor, family 52, subfamily R,							101.0	89.0	93.0					11																	4825572		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825572C>A	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.39G>T	11.37:g.4825572C>A							p.V92V	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	276	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	13			Extracellular (Potential).		Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.276G>T	CCDS31360.2																																																																																				PASS	0.488	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		3	70	3	70	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26465322	26465322	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:26465322G>A	ENST00000256737.3	+	3	1104	c.252G>A	c.(250-252)gaG>gaA	p.E84E	ANO3_ENST00000525139.1_Silent_p.E68E|ANO3_ENST00000531646.1_Silent_p.E84E|ANO3_ENST00000537978.1_Silent_p.E68E	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	84					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.E84E(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTAATACTGAGGAGAATAAAA	0.343																																						uc001mqt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(250-252)GAG>GAA		transmembrane protein 16C							103.0	101.0	102.0					11																	26465322		2203	4300	6503	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26465322G>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.252G>A	11.37:g.26465322G>A						ANO3_uc010rdr.1_Silent_p.E68E	p.E84E	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			3	397	+			84			Cytoplasmic (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.252G>A	CCDS31447.1																																																																																				PASS	0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		16	57	16	57	---	---	---	---
MPPED2	744	broad.mit.edu	37	11	30439182	30439182	+	Splice_Site	SNP	T	T	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:30439182T>A	ENST00000358117.5	-	4	659		c.e4-2		MPPED2_ENST00000448418.2_Splice_Site|MPPED2_ENST00000524667.1_Splice_Site	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2						nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.?(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CACGGGGTCCTTTGGGGGAGA	0.532																																						uc001msr.2																			2	Unknown(2)		lung(2)	skin(1)	1						c.e4-1		metallophosphoesterase domain containing 2							65.0	60.0	61.0					11																	30439182		2202	4299	6501	SO:0001630	splice_region_variant	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30439182T>A	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.537-2A>T	11.37:g.30439182T>A						MPPED2_uc001msq.3_Splice_Site_p.W179_splice|MPPED2_uc009yji.2_Splice_Site_p.W53_splice	p.W179_splice	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			4	657	-								D3DQZ5|E9PB10|Q59GE6	Splice_Site	SNP	ENST00000358117.5	37	c.537_splice	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425131	0.83667	.	.	ENSG00000066382	ENST00000448418;ENST00000358117	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1021	0.81178	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPPED2	30395758	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.650000	0.83521	2.210000	0.71456	0.533000	0.62120	.		PASS	0.532	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584	Intron	10	33	10	33	---	---	---	---
ARFGAP2	84364	broad.mit.edu	37	11	47188385	47188385	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:47188385C>T	ENST00000524782.1	-	13	1486	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.E284K|RP11-390K5.6_ENST00000524412.1_RNA|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.E313K|ARFGAP2_ENST00000319543.6_Missense_Mutation_p.E151K	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	420	Required for interaction with coatomer.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.E420K(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGACGCGCCTCACTAGACTCG	0.567																																						uc001ndt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1258-1260)GAG>AAG		ADP-ribosylation factor GTPase activating							140.0	141.0	141.0					11																	47188385		2201	4299	6500	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47188385C>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.1258G>A	11.37:g.47188385C>T	ENSP00000434442:p.Glu420Lys					ARFGAP2_uc010rha.1_Missense_Mutation_p.E151K|ARFGAP2_uc010rhb.1_Missense_Mutation_p.E392K|ARFGAP2_uc001ndu.2_Missense_Mutation_p.E284K|ARFGAP2_uc010rhc.1_Missense_Mutation_p.E151K	p.E420K	NM_032389	NP_115765	Q8N6H7	ARFG2_HUMAN			13	1273	-			420			Required for interaction with coatomer.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.1258G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	37	6.158866	0.97334	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000319543;ENST00000419701;ENST00000526342	T;T;T;T;T	0.20200	3.18;3.32;2.88;3.01;2.09	5.91	5.91	0.95273	.	0.042446	0.85682	D	0.000000	T	0.48892	0.1525	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.91635	0.999;0.986;0.997	T	0.39781	-0.9597	10	0.72032	D	0.01	-15.8135	20.2985	0.98592	0.0:1.0:0.0:0.0	.	313;284;420	B4DX29;G5E9L0;Q8N6H7	.;.;ARFG2_HUMAN	K	284;420;151;313;127	ENSP00000400226:E284K;ENSP00000434442:E420K;ENSP00000327309:E151K;ENSP00000389264:E313K;ENSP00000437305:E127K	ENSP00000327309:E151K	E	-	1	0	ARFGAP2	47144961	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	GAG		PASS	0.567	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		138	188	138	188	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56954921	56954922	+	Missense_Mutation	DNP	CT	CT	AA	rs142633236		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:56954921_56954922CT>AA	ENST00000497933.1	+	2	1140_1141	c.993_994CT>AA	c.(991-996)cgCTgg>cgAAgg	p.W332R		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	302					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W332R(2)|p.R331R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCCACCGCTGGAGCAAGGC	0.584																																						uc001njl.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(991-993)CGC>CGA|c.(994-996)TGG>AGG		leucine rich repeat containing 55																																				SO:0001583	missense	219527					integral to membrane		g.chr11:56954921C>A|g.chr11:56954922T>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	Exception_encountered	11.37:g.56954921_56954922delinsAA	ENSP00000419542:p.Trp332Arg					LRRC55_uc001njm.1_5'Flank	p.R331R|p.W332R	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			2	1140|1141	+			301|302					A7E2U7|B2RN81	Silent|Missense_Mutation	SNP	ENST00000497933.1	37	c.993C>A|c.994T>A	CCDS31539.1																																																																																				PASS	0.584	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		5	52|51	5	51	---	---	---	---
PRG3	10394	broad.mit.edu	37	11	57148124	57148124	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:57148124G>A	ENST00000287143.2	-	2	167	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.L20L(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GACTTACCCAGATGAAGAGCA	0.507																																					Melanoma(154;1456 2519 19358 45229)	uc001njv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CTG>TTG		proteoglycan 3 precursor							191.0	149.0	163.0					11																	57148124		2200	4296	6496	SO:0001819	synonymous_variant	10394				basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	g.chr11:57148124G>A	AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.58C>T	11.37:g.57148124G>A							p.L20L	NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN			2	168	-			20					Q5VX23|Q9NXE2	Silent	SNP	ENST00000287143.2	37	c.58C>T	CCDS7954.1																																																																																				PASS	0.507	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1	NM_006093		6	13	6	13	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58949569	58949569	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:58949569C>T	ENST00000227451.3	+	2	673	c.569C>T	c.(568-570)tCc>tTc	p.S190F	DTX4_ENST00000532982.1_Missense_Mutation_p.S84F	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	190					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S190F(1)|p.S84F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TCCCCCTGCTCCTGTCCCCAG	0.632																																						uc001nns.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(568-570)TCC>TTC		deltex 4 homolog							30.0	35.0	33.0					11																	58949569		2074	4187	6261	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949569C>T	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.569C>T	11.37:g.58949569C>T	ENSP00000227451:p.Ser190Phe					DTX4_uc001nnr.2_Missense_Mutation_p.S84F	p.S190F	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			2	826	+		all_epithelial(135;0.125)	190					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.569C>T	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282873	0.40394	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.16897	2.31;2.69	4.32	4.32	0.51571	.	0.416020	0.24454	N	0.038381	T	0.20170	0.0485	L	0.54323	1.7	0.39963	D	0.974698	B	0.25169	0.119	B	0.25759	0.063	T	0.06162	-1.0842	10	0.48119	T	0.1	.	16.0922	0.81098	0.0:1.0:0.0:0.0	.	190	Q9Y2E6	DTX4_HUMAN	F	84;190	ENSP00000434055:S84F;ENSP00000227451:S190F	ENSP00000227451:S190F	S	+	2	0	DTX4	58706145	0.912000	0.30974	1.000000	0.80357	0.770000	0.43624	2.484000	0.45242	2.410000	0.81850	0.655000	0.94253	TCC		PASS	0.632	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		23	25	23	25	---	---	---	---
ZP1	22917	broad.mit.edu	37	11	60638697	60638697	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:60638697G>T	ENST00000278853.5	+	6	1022	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	341	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)		p.G341V(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGGTGGCTGGCGACCAGCTC	0.607																																						uc001nqd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GGC>GTC		zona pellucida glycoprotein 1 precursor							57.0	51.0	53.0					11																	60638697		2203	4299	6502	SO:0001583	missense	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60638697G>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1022G>T	11.37:g.60638697G>T	ENSP00000278853:p.Gly341Val					ZP1_uc001nqe.2_Missense_Mutation_p.G48V	p.G341V	NM_207341	NP_997224	P60852	ZP1_HUMAN			6	1042	+			341			Extracellular (Potential).|ZP.			Missense_Mutation	SNP	ENST00000278853.5	37	c.1022G>T	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024793	0.35701	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	D	0.82803	-1.65	5.27	4.15	0.48705	Zona pellucida sperm-binding protein (3);	0.387566	0.29830	N	0.011099	D	0.90167	0.6927	M	0.82056	2.57	0.19300	N	0.999977	D	0.69078	0.997	D	0.75020	0.985	T	0.82651	-0.0352	10	0.72032	D	0.01	-21.9684	12.7667	0.57396	0.1316:0.0:0.8684:0.0	.	341	P60852	ZP1_HUMAN	V	341;48	ENSP00000278853:G341V	ENSP00000278853:G341V	G	+	2	0	ZP1	60395273	0.004000	0.15560	0.038000	0.18304	0.441000	0.31987	0.547000	0.23299	2.467000	0.83353	0.313000	0.20887	GGC		PASS	0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1	NM_207341		15	48	15	48	---	---	---	---
CD6	923	broad.mit.edu	37	11	60780938	60780938	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:60780938G>A	ENST00000313421.7	+	7	1380	c.1194G>A	c.(1192-1194)gaG>gaA	p.E398E	CD6_ENST00000352009.5_Silent_p.E398E|CD6_ENST00000452451.2_Silent_p.E398E|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.E398E|CD6_ENST00000344028.5_Silent_p.E398E	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	398					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)	p.E398E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AATCTCGGGAGCTAATGCTCC	0.438																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1192-1194)GAG>GAA		CD6 molecule precursor							199.0	200.0	200.0					11																	60780938		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60780938G>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1194G>A	11.37:g.60780938G>A						CD6_uc009yni.2_Silent_p.E297E|CD6_uc009ynj.2_Silent_p.E275E|CD6_uc001nqp.2_Silent_p.E398E|CD6_uc001nqr.2_Silent_p.E398E|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.E398E	p.E398E	NM_006725	NP_006716	P30203	CD6_HUMAN			7	1417	+			398			Extracellular (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1194G>A	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.362414	0.01235	.	.	ENSG00000013725	ENST00000538611	.	.	.	5.33	2.32	0.28847	.	.	.	.	.	T	0.24624	0.0597	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.19614	-1.0300	4	.	.	.	.	3.964	0.09423	0.2027:0.0:0.6114:0.1859	.	.	.	.	N	141	.	.	S	+	2	0	CD6	60537514	0.001000	0.12720	0.040000	0.18447	0.022000	0.10575	-0.210000	0.09345	0.559000	0.29153	0.655000	0.94253	AGC		PASS	0.438	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		75	258	75	258	---	---	---	---
ESRRA	2101	broad.mit.edu	37	11	64083327	64083327	+	Silent	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:64083327C>A	ENST00000405666.1	+	7	1395	c.1161C>A	c.(1159-1161)ctC>ctA	p.L387L	PRDX5_ENST00000265462.4_5'Flank|ESRRA_ENST00000000442.6_Silent_p.L387L|ESRRA_ENST00000406310.1_Silent_p.L386L|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	387	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L387L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTACCGCTCCTCCGCCAGA	0.677																																						uc001nzq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1159-1161)CTC>CTA		estrogen-related receptor alpha							27.0	30.0	29.0					11																	64083327		1999	4161	6160	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64083327C>A	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1161C>A	11.37:g.64083327C>A						ESRRA_uc001nzr.1_Silent_p.L386L|ESRRA_uc001nzs.1_Silent_p.L387L|PRDX5_uc001nzu.2_5'Flank|PRDX5_uc001nzv.2_5'Flank|PRDX5_uc001nzw.2_5'Flank|PRDX5_uc001nzx.2_5'Flank	p.L387L	NM_004451	NP_004442	P11474	ERR1_HUMAN			7	1338	+			387			Ligand binding domain.		Q14514	Silent	SNP	ENST00000405666.1	37	c.1161C>A	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	C	5.285	0.237911	0.10023	.	.	ENSG00000173153	ENST00000545035	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	T	0.60650	0.2285	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57974	-0.7718	4	.	.	.	.	9.9121	0.41413	0.2033:0.7967:0.0:0.0	.	.	.	.	Y	168	.	.	S	+	2	0	ESRRA	63839903	0.997000	0.39634	1.000000	0.80357	0.951000	0.60555	0.384000	0.20668	2.436000	0.82500	0.561000	0.74099	TCC		PASS	0.677	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		18	38	18	38	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65270077	65270077	+	lincRNA	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:65270077G>A	ENST00000534336.1	+	0	4845					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTTGTTGATGAGGGAGGGGA	0.343																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							87.0	91.0	89.0					11																	65270077		874	1988	2862			378938							g.chr11:65270077G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65270077G>A						uc001ody.2_RNA|MALAT1_uc001odz.2_Intron		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.4845G>A																																																																																					PASS	0.343	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		25	43	25	43	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82876801	82876801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:82876801C>T	ENST00000298281.4	+	5	1314	c.862C>T	c.(862-864)Cag>Tag	p.Q288*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	288					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.Q387*(1)|p.Q288*(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTTACAAATTCAGGATTTAAA	0.423																																						uc001ozx.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(862-864)CAG>TAG		pre-mRNA cleavage complex II protein Pcf11							46.0	43.0	44.0					11																	82876801		1853	4085	5938	SO:0001587	stop_gained	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82876801C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.862C>T	11.37:g.82876801C>T	ENSP00000298281:p.Gln288*					PCF11_uc010rsu.1_Nonsense_Mutation_p.Q288*	p.Q288*	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	1207	+			288					A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	ENST00000298281.4	37	c.862C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	39	7.797088	0.98495	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	.	.	.	5.85	5.85	0.93711	.	0.115379	0.39274	N	0.001404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.624	0.76833	0.0:0.8633:0.1367:0.0	.	.	.	.	X	288	.	.	Q	+	1	0	PCF11	82554449	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.970000	0.56824	2.753000	0.94483	0.655000	0.94253	CAG		PASS	0.423	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		9	16	9	16	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877735	82877735	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:82877735C>T	ENST00000298281.4	+	5	2248	c.1796C>T	c.(1795-1797)tCt>tTt	p.S599F		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	599					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S599F(1)|p.S698F(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGATGGAAATCTGGTTGGGAA	0.333																																						uc001ozx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1795-1797)TCT>TTT		pre-mRNA cleavage complex II protein Pcf11							75.0	77.0	76.0					11																	82877735		1735	3772	5507	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877735C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1796C>T	11.37:g.82877735C>T	ENSP00000298281:p.Ser599Phe					PCF11_uc010rsu.1_Missense_Mutation_p.S599F	p.S599F	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	2141	+			599					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.1796C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426285	0.62733	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.65364	0.73;-0.15;-0.0	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000015	T	0.70316	0.3210	L	0.34521	1.04	0.52099	D	0.999947	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.66468	-0.5916	9	.	.	.	.	16.0651	0.80865	0.0:0.8668:0.1332:0.0	.	599;599	E9PQ01;O94913	.;PCF11_HUMAN	F	599	ENSP00000298281:S599F;ENSP00000434540:S599F;ENSP00000431567:S599F	.	S	+	2	0	PCF11	82555383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.469000	0.60169	2.885000	0.99019	0.655000	0.94253	TCT		PASS	0.333	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		38	86	38	86	---	---	---	---
USP2	9099	broad.mit.edu	37	11	119243758	119243758	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr11:119243758C>T	ENST00000260187.2	-	2	727	c.433G>A	c.(433-435)Gac>Aac	p.D145N	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	145	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D145N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CGGGCCAGGTCTGATTGGCTG	0.612																																						uc001pwm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|urinary_tract(1)|skin(1)	4						c.(433-435)GAC>AAC		ubiquitin specific peptidase 2 isoform a							61.0	70.0	67.0					11																	119243758		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243758C>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.433G>A	11.37:g.119243758C>T	ENSP00000260187:p.Asp145Asn					USP2_uc001pwn.3_Intron	p.D145N	NM_004205	NP_004196	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	728	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	145			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.433G>A	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.228398	0.79576	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070	T	0.34667	1.35	5.39	5.39	0.77823	.	0.619336	0.17542	N	0.170491	T	0.46580	0.1400	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.58331	0.837	T	0.44314	-0.9336	10	0.87932	D	0	-8.7066	16.303	0.82832	0.0:1.0:0.0:0.0	.	145	O75604	UBP2_HUMAN	N	145;115;145	ENSP00000260187:D145N	ENSP00000260187:D145N	D	-	1	0	USP2	118748968	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.512000	0.67030	2.509000	0.84616	0.561000	0.74099	GAC		PASS	0.612	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		81	30	81	30	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	662805	662805	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:662805G>C	ENST00000266383.5	+	14	1729	c.1716G>C	c.(1714-1716)caG>caC	p.Q572H		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	572					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)	p.Q572H(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TCGCAGAGCAGAGACGGGGTG	0.667																																						uc001qii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1714-1716)CAG>CAC		beta							41.0	42.0	42.0					12																	662805		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:662805G>C	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1716G>C	12.37:g.662805G>C	ENSP00000266383:p.Gln572His					B4GALNT3_uc001qij.1_Missense_Mutation_p.Q475H|B4GALNT3_uc001qik.1_Missense_Mutation_p.Q121H	p.Q572H	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		14	1716	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		572			Lumenal (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.1716G>C	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585465	0.46110	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32988	3.46;1.43	5.63	5.63	0.86233	.	0.229423	0.45867	D	0.000322	T	0.50309	0.1608	L	0.59436	1.845	0.33985	D	0.648451	D;B	0.89917	1.0;0.417	D;B	0.83275	0.996;0.052	T	0.59690	-0.7407	10	0.40728	T	0.16	-27.6696	13.3305	0.60483	0.0:0.0:0.8424:0.1576	.	475;572	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	H	572;475	ENSP00000266383:Q572H;ENSP00000322953:Q475H	ENSP00000266383:Q572H	Q	+	3	2	B4GALNT3	533066	1.000000	0.71417	0.993000	0.49108	0.473000	0.32948	2.325000	0.43840	2.659000	0.90383	0.561000	0.74099	CAG		PASS	0.667	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		31	59	31	59	---	---	---	---
A2M	2	broad.mit.edu	37	12	9225294	9225294	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:9225294C>T	ENST00000318602.7	-	30	4237	c.3930G>A	c.(3928-3930)ggG>ggA	p.G1310G		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1310					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.G1310G(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TGCTGTATTCCCCAGGCAGCT	0.517																																						uc001qvk.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(3928-3930)GGG>GGA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						189.0	191.0	190.0					12																	9225294		2159	4292	6451	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9225294C>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3930G>A	12.37:g.9225294C>T						A2M_uc001qvj.1_Silent_p.G352G|A2M_uc009zgk.1_Silent_p.G1160G	p.G1310G	NM_000014	NP_000005	P01023	A2MG_HUMAN			30	4043	-			1310					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.3930G>A	CCDS44827.1																																																																																				PASS	0.517	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		22	218	22	218	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716391	13716391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:13716391G>A	ENST00000609686.1	-	13	3990	c.3781C>T	c.(3781-3783)Cag>Tag	p.Q1261*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1261					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Q1261*(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCAGTTCCTGCAGGGAGTTG	0.592																																						uc001rbt.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3781-3783)CAG>TAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						72.0	76.0	75.0					12																	13716391		2203	4300	6503	SO:0001587	stop_gained	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716391G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3781C>T	12.37:g.13716391G>A	ENSP00000477455:p.Gln1261*						p.Q1261*	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3960	-			1261			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Nonsense_Mutation	SNP	ENST00000609686.1	37	c.3781C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	41	8.759384	0.98943	.	.	ENSG00000150086	ENST00000279593	.	.	.	4.84	4.84	0.62591	.	0.077157	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.5133	0.90925	0.0:0.0:1.0:0.0	.	.	.	.	X	1261	.	ENSP00000279593:Q1261X	Q	-	1	0	GRIN2B	13607658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.617000	0.67716	2.667000	0.90743	0.563000	0.77884	CAG		PASS	0.592	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			56	63	56	63	---	---	---	---
PLEKHA5	54477	broad.mit.edu	37	12	19514590	19514590	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:19514590G>C	ENST00000299275.6	+	23	3066	c.3060G>C	c.(3058-3060)atG>atC	p.M1020I	PLEKHA5_ENST00000539256.1_Missense_Mutation_p.M778I|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.M1078I|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.M1009I|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.M1186I|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.M964I|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.M1083I|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.M1078I|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.M1002I	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	1020					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.M1181I(1)|p.M1020I(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CTGTGGAAATGATGGATAAAG	0.294																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(3058-3060)ATG>ATC		pleckstrin homology domain containing, family A							68.0	72.0	70.0					12																	19514590		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19514590G>C	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.3060G>C	12.37:g.19514590G>C	ENSP00000299275:p.Met1020Ile					PLEKHA5_uc010sie.1_Missense_Mutation_p.M1181I|PLEKHA5_uc001rea.2_Missense_Mutation_p.M1078I|PLEKHA5_uc009zin.2_Missense_Mutation_p.M778I|PLEKHA5_uc010sif.1_Missense_Mutation_p.M1009I|PLEKHA5_uc010sig.1_Missense_Mutation_p.M1002I|PLEKHA5_uc010sih.1_Missense_Mutation_p.M975I|PLEKHA5_uc001rec.1_Missense_Mutation_p.M829I|PLEKHA5_uc009zio.2_Missense_Mutation_p.M286I	p.M1020I	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			23	3146	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		1020					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.3060G>C	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736728	0.30774	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01;3.01;3.01;3.01;3.17;3.01	4.37	1.44	0.22558	.	1.282490	0.04990	N	0.467141	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0;0.0;0.0;0.001	T	0.37174	-0.9717	10	0.34782	T	0.22	-0.121	3.3185	0.07041	0.2181:0.0:0.576:0.2059	.	1083;1002;1009;1181;964;1186;1020;1078	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	I	1083;1078;964;1182;1186;1020;778;1078;1009;1002;975;301	ENSP00000325155:M1083I;ENSP00000347560:M1078I;ENSP00000352104:M964I;ENSP00000404296:M1186I;ENSP00000299275:M1020I;ENSP00000440611:M778I;ENSP00000439673:M1078I;ENSP00000400411:M1009I;ENSP00000439837:M1002I;ENSP00000440371:M975I;ENSP00000443553:M301I	ENSP00000299275:M1020I	M	+	3	0	PLEKHA5	19405857	0.003000	0.15002	0.026000	0.17262	0.801000	0.45260	0.102000	0.15272	0.539000	0.28788	0.460000	0.39030	ATG		PASS	0.294	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		19	34	19	34	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40618944	40618944	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:40618944G>A	ENST00000298910.7	+	1	69	c.11G>A	c.(10-12)gGc>gAc	p.G4D	AC079630.4_ENST00000412812.1_RNA|LRRK2_ENST00000343742.2_Missense_Mutation_p.G4D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	4					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.G4D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGGCTAGTGGCAGCTGTCAG	0.607																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(10-12)GGC>GAC		leucine-rich repeat kinase 2							34.0	38.0	36.0					12																	40618944		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40618944G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.11G>A	12.37:g.40618944G>A	ENSP00000298910:p.Gly4Asp						p.G4D	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			1	132	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	4					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.11G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868877	0.72065	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.42900	0.96;0.96	4.65	3.74	0.42951	.	0.000000	0.51477	D	0.000086	T	0.37019	0.0988	L	0.50333	1.59	0.32860	D	0.507874	P	0.51791	0.948	B	0.42319	0.383	T	0.55704	-0.8099	10	0.87932	D	0	.	9.9226	0.41472	0.0:0.0:0.7964:0.2036	.	4	Q5S007	LRRK2_HUMAN	D	4	ENSP00000341930:G4D;ENSP00000298910:G4D	ENSP00000298910:G4D	G	+	2	0	LRRK2	38905211	1.000000	0.71417	0.676000	0.29932	0.972000	0.66771	2.823000	0.48081	0.908000	0.36671	0.561000	0.74099	GGC		PASS	0.607	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		17	21	17	21	---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48516643	48516643	+	Splice_Site	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:48516643G>T	ENST00000312352.7	+	2	124		c.e2+1		PFKM_ENST00000551548.1_Splice_Site|PFKM_ENST00000340802.6_Splice_Site|PFKM_ENST00000551804.1_Splice_Site|PFKM_ENST00000547587.1_Splice_Site|PFKM_ENST00000395233.2_Splice_Site|PFKM_ENST00000359794.5_Splice_Site	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.?(2)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATGCCCAAGGTAAGGAGGAG	0.468																																						uc001rrc.2																			2	Unknown(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.e2+1		phosphofructokinase, muscle							74.0	78.0	76.0					12																	48516643		2203	4300	6503	SO:0001630	splice_region_variant	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48516643G>T	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.85+1G>T	12.37:g.48516643G>T						PFKM_uc001rra.1_Splice_Site|PFKM_uc001rrb.1_Splice_Site_p.G100_splice|PFKM_uc001rrd.2_Splice_Site|PFKM_uc001rre.1_Splice_Site_p.G29_splice|PFKM_uc001rrg.1_Splice_Site_p.G29_splice	p.G29_splice	NM_000289	NP_000280	P08237	K6PF_HUMAN			2	255	+								J3KNX3|Q16814|Q16815|Q6ZTT1	Splice_Site	SNP	ENST00000312352.7	37	c.85_splice	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400489	0.25291	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000550924;ENST00000549941;ENST00000550257;ENST00000340802;ENST00000549366;ENST00000552792;ENST00000548288;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352;ENST00000546465	.	.	.	5.06	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6339	0.33936	0.0:0.1663:0.6608:0.1729	.	.	.	.	.	-1	.	.	.	+	.	.	PFKM	46802910	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	6.389000	0.73199	0.833000	0.34828	-0.183000	0.12914	.		PASS	0.468	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	Intron	8	46	8	46	---	---	---	---
TUBA1C	84790	broad.mit.edu	37	12	49666851	49666851	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:49666851G>A	ENST00000301072.6	+	4	1466	c.1191G>A	c.(1189-1191)ctG>ctA	p.L397L	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.L467L	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	397					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.L397L(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						AGTTTGACCTGATGTATGCCA	0.587																																						uc001rtt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1189-1191)CTG>CTA		tubulin alpha 6							105.0	94.0	98.0					12																	49666851		2203	4300	6503	SO:0001819	synonymous_variant	84790				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr12:49666851G>A	BC004949	CCDS8782.1	12q13.12	2007-03-16	2007-02-12	2007-02-12		ENSG00000167553		"""Tubulins"""	20768	protein-coding gene	gene with protein product			"""tubulin, alpha 6"""	TUBA6		7821789	Standard	NM_032704		Approved	MGC14580, MGC10851, bcm948	uc001rtt.1	Q9BQE3		ENST00000301072.6:c.1191G>A	12.37:g.49666851G>A						TUBA1C_uc001rts.2_Silent_p.L362L|TUBA1C_uc010smh.1_Silent_p.L467L|uc010smi.1_5'UTR	p.L397L	NM_032704	NP_116093	Q9BQE3	TBA1C_HUMAN			4	1291	+			397						Silent	SNP	ENST00000301072.6	37	c.1191G>A	CCDS8782.1																																																																																				PASS	0.587	TUBA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404424.1	NM_032704		50	59	50	59	---	---	---	---
KRT84	3890	broad.mit.edu	37	12	52774241	52774241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:52774241G>A	ENST00000257951.3	-	7	1396	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	444	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.Q444*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCACAGCTGCCGCGCCATG	0.647											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sah.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1330-1332)CAG>TAG		keratin, hair, basic, 4							58.0	52.0	54.0					12																	52774241		2203	4300	6503	SO:0001587	stop_gained	3890					keratin filament	structural constituent of epidermis	g.chr12:52774241G>A	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1330C>T	12.37:g.52774241G>A	ENSP00000257951:p.Gln444*		OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987		p.Q444*	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1378	-	all_hematologic(5;0.12)		444			Rod.|Coil 2.		B2RA43|Q6ISB0|Q701L6	Nonsense_Mutation	SNP	ENST00000257951.3	37	c.1330C>T	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	40	7.997813	0.98602	.	.	ENSG00000161849	ENST00000257951	.	.	.	4.94	4.94	0.65067	.	0.000000	0.43416	D	0.000579	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.365	0.90388	0.0:0.0:1.0:0.0	.	.	.	.	X	444	.	ENSP00000257951:Q444X	Q	-	1	0	KRT84	51060508	1.000000	0.71417	0.993000	0.49108	0.886000	0.51366	6.439000	0.73430	2.572000	0.86782	0.591000	0.81541	CAG		PASS	0.647	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		42	40	42	40	---	---	---	---
COPZ1	22818	broad.mit.edu	37	12	54739300	54739300	+	Splice_Site	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:54739300G>T	ENST00000262061.2	+	5	354		c.e5+1		COPZ1_ENST00000416254.2_Splice_Site|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000551779.1_Splice_Site|COPZ1_ENST00000548281.1_Splice_Site|COPZ1_ENST00000549116.1_Splice_Site|RN7SL744P_ENST00000577604.1_RNA|COPZ1_ENST00000552218.1_Splice_Site|COPZ1_ENST00000548753.1_Splice_Site|COPZ1_ENST00000549043.1_Splice_Site|COPZ1_ENST00000553231.1_Splice_Site|COPZ1_ENST00000455864.2_Splice_Site|COPZ1_ENST00000552362.1_Splice_Site	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)		p.?(1)		kidney(1)|lung(4)	5						AGATGCTGAGGTGAGCAGGAC	0.458																																						uc001sfs.1																			1	Unknown(1)		lung(1)		0						c.e5+1		coatomer protein complex, subunit zeta 1							107.0	92.0	97.0					12																	54739300		2203	4300	6503	SO:0001630	splice_region_variant	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54739300G>T	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.317+1G>T	12.37:g.54739300G>T						COPZ1_uc001sft.2_Splice_Site_p.R55_splice|COPZ1_uc009znm.1_Splice_Site_p.R114_splice|COPZ1_uc010sot.1_Splice_Site_p.R83_splice	p.R106_splice	NM_016057	NP_057141	P61923	COPZ1_HUMAN			5	354	+								B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Splice_Site	SNP	ENST00000262061.2	37	c.317_splice	CCDS8877.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797615	0.70567	.	.	ENSG00000111481	ENST00000262061;ENST00000549043;ENST00000552218;ENST00000553231;ENST00000552362;ENST00000455864;ENST00000416254;ENST00000549116;ENST00000551779;ENST00000548753;ENST00000550713	.	.	.	4.03	4.03	0.46877	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9697	0.53058	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COPZ1	53025567	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.387000	0.90167	2.516000	0.84829	0.585000	0.79938	.		PASS	0.458	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057	Intron	4	79	4	79	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57593029	57593029	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:57593029G>A	ENST00000243077.3	+	61	10177	c.9711G>A	c.(9709-9711)ctG>ctA	p.L3237L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3237					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.L3237L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCTTTGCACTGACCCTGTTTG	0.602																																						uc001snd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(9709-9711)CTG>CTA		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						324.0	298.0	307.0					12																	57593029		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57593029G>A	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.9711G>A	12.37:g.57593029G>A							p.L3237L	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	61	10177	+			3237			LDL-receptor class B 29.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.9711G>A	CCDS8932.1																																																																																				PASS	0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		233	325	233	325	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57861784	57861784	+	Missense_Mutation	SNP	A	A	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:57861784A>G	ENST00000228682.2	+	10	1176	c.1085A>G	c.(1084-1086)tAt>tGt	p.Y362C	GLI1_ENST00000543426.1_Missense_Mutation_p.Y234C|GLI1_ENST00000546141.1_Missense_Mutation_p.Y321C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	362					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.Y362C(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGAAGCCGTATGTATGTAAG	0.507																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(1084-1086)TAT>TGT		GLI family zinc finger 1 isoform 1							68.0	52.0	58.0					12																	57861784		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57861784A>G		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1085A>G	12.37:g.57861784A>G	ENSP00000228682:p.Tyr362Cys					GLI1_uc009zpq.2_Missense_Mutation_p.Y234C	p.Y362C	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		10	1163	+			362			C2H2-type 5.		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1085A>G	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.987411	0.35036	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.38	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000269	T	0.70448	0.3225	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71151	-0.4676	10	0.87932	D	0	.	9.1706	0.37078	0.9108:0.0:0.0892:0.0	.	362	P08151	GLI1_HUMAN	C	234;362;321;321;234	ENSP00000437607:Y234C;ENSP00000228682:Y362C;ENSP00000441006:Y321C;ENSP00000434408:Y321C	ENSP00000228682:Y362C	Y	+	2	0	GLI1	56148051	1.000000	0.71417	0.067000	0.19924	0.142000	0.21351	9.081000	0.94049	0.833000	0.34828	-0.379000	0.06801	TAT		PASS	0.507	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		30	41	30	41	---	---	---	---
DYRK2	8445	broad.mit.edu	37	12	68051350	68051350	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:68051350G>T	ENST00000344096.3	+	3	1076	c.663G>T	c.(661-663)agG>agT	p.R221S	DYRK2_ENST00000393555.3_Missense_Mutation_p.R148S|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	221					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.R221S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGGCTTACAGGTATGAGGTCC	0.562																																						uc001str.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(661-663)AGG>AGT		dual-specificity tyrosine-(Y)-phosphorylation							73.0	57.0	62.0					12																	68051350		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051350G>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.663G>T	12.37:g.68051350G>T	ENSP00000342105:p.Arg221Ser					DYRK2_uc001sts.3_Missense_Mutation_p.R148S	p.R221S	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1065	+			221					B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.663G>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043474	0.36085	.	.	ENSG00000127334	ENST00000543747;ENST00000344096;ENST00000393555	T;T;T	0.68903	-0.36;1.98;1.98	5.06	4.1	0.47936	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72462	-0.4286	9	.	.	.	.	8.5615	0.33514	0.1231:0.1428:0.734:0.0	.	221	Q92630	DYRK2_HUMAN	S	148;221;148	ENSP00000440839:R148S;ENSP00000342105:R221S;ENSP00000377186:R148S	.	R	+	3	2	DYRK2	66337617	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	2.388000	0.44398	2.519000	0.84933	0.313000	0.20887	AGG		PASS	0.562	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			5	63	5	63	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109623543	109623543	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:109623543G>A	ENST00000338432.7	+	12	2097	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	ACACB_ENST00000377854.5_Missense_Mutation_p.E660K|ACACB_ENST00000377848.3_Missense_Mutation_p.E660K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	660	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E660K(2)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	AAACCCAGACGAGGCAAGTTA	0.577																																						uc001tob.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1978-1980)GAG>AAG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						37.0	36.0	36.0					12																	109623543		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109623543G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1978G>A	12.37:g.109623543G>A	ENSP00000341044:p.Glu660Lys					ACACB_uc001toc.2_Missense_Mutation_p.E660K	p.E660K	NM_001093	NP_001084	O00763	ACACB_HUMAN			12	2097	+			660			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.1978G>A	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581514	0.86748	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.80566	-1.39;-1.39;-1.39	5.13	5.13	0.70059	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.048263	0.85682	D	0.000000	D	0.85948	0.5816	L	0.37507	1.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87449	0.2400	10	0.87932	D	0	.	18.5465	0.91048	0.0:0.0:1.0:0.0	.	660	O00763	ACACB_HUMAN	K	660	ENSP00000341044:E660K;ENSP00000367079:E660K;ENSP00000367085:E660K	ENSP00000341044:E660K	E	+	1	0	ACACB	108107926	1.000000	0.71417	0.995000	0.50966	0.349000	0.29174	9.837000	0.99465	2.558000	0.86282	0.561000	0.74099	GAG		PASS	0.577	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		14	44	14	44	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116549243	116549243	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:116549243G>A	ENST00000281928.3	-	3	591	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	129						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L129L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTTTCTAACAGATTGTGGATC	0.378																																						uc001tvw.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(385-387)CTG>TTG		mediator complex subunit 13-like							131.0	130.0	131.0					12																	116549243		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116549243G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.385C>T	12.37:g.116549243G>A							p.L129L	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	3	440	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		129					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.385C>T	CCDS9177.1																																																																																				PASS	0.378	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			39	62	39	62	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120582788	120582788	+	Silent	SNP	C	C	T	rs374653044		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:120582788C>T	ENST00000300648.6	-	40	5106	c.5094G>A	c.(5092-5094)ccG>ccA	p.P1698P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1698					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.P1698P(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATCAGCCACGGCAGCAAGT	0.612																																						uc001txo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(5092-5094)CCG>CCA		GCN1 general control of amino-acid synthesis		C		0,4336		0,0,2168	81.0	85.0	84.0		5094	-11.0	0.5	12		84	5,8545		0,5,4270	no	coding-synonymous	GCN1L1	NM_006836.1		0,5,6438	TT,TC,CC		0.0585,0.0,0.0388		1698/2672	120582788	5,12881	2168	4275	6443	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582788C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5094G>A	12.37:g.120582788C>T							p.P1698P	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			40	5107	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1698					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5094G>A	CCDS41847.1																																																																																				PASS	0.612	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			36	77	36	77	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126068523	126068523	+	Missense_Mutation	SNP	G	G	A	rs199976507		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:126068523G>A	ENST00000299308.3	+	5	1413	c.1405G>A	c.(1405-1407)Gat>Aat	p.D469N		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	469						integral component of membrane (GO:0016021)		p.D469N(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CAAGTCTGCCGATGAAGATGT	0.478																																						uc001uhe.1																			1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1405-1407)GAT>AAT		transmembrane protein 132B		G	ASN/ASP	0,4000		0,0,2000	265.0	252.0	256.0		1405	4.7	0.0	12		256	3,8355		0,3,4176	yes	missense	TMEM132B	NM_052907.2	23	0,3,6176	AA,AG,GG		0.0359,0.0,0.0243	probably-damaging	469/1079	126068523	3,12355	2000	4179	6179	SO:0001583	missense	114795					integral to membrane		g.chr12:126068523G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1405G>A	12.37:g.126068523G>A	ENSP00000299308:p.Asp469Asn						p.D469N	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	5	1413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		469			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.1405G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588562	0.28357	0.0	3.59E-4	ENSG00000139364	ENST00000299308	T	0.12147	2.71	4.7	4.7	0.59300	.	0.000000	0.37809	U	0.001932	T	0.14874	0.0359	N	0.26042	0.785	0.80722	D	1	D	0.55605	0.972	P	0.49192	0.602	T	0.09684	-1.0663	10	0.20519	T	0.43	.	16.4043	0.83652	0.0:0.0:1.0:0.0	.	469	Q14DG7	T132B_HUMAN	N	469	ENSP00000299308:D469N	ENSP00000299308:D469N	D	+	1	0	TMEM132B	124634476	1.000000	0.71417	0.045000	0.18777	0.059000	0.15707	3.635000	0.54309	2.148000	0.66965	0.561000	0.74099	GAT		PASS	0.478	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		139	183	139	183	---	---	---	---
TMEM132B	114795	broad.mit.edu	37	12	126138642	126138642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr12:126138642C>T	ENST00000299308.3	+	9	2631	c.2623C>T	c.(2623-2625)Caa>Taa	p.Q875*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.Q387*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	875						integral component of membrane (GO:0016021)		p.Q875*(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTCCCCACTCAAGGGAAGTC	0.507																																						uc001uhe.1																			1	Substitution - Nonsense(1)		lung(1)	skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2623-2625)CAA>TAA		transmembrane protein 132B							66.0	63.0	64.0					12																	126138642		1927	4123	6050	SO:0001587	stop_gained	114795					integral to membrane		g.chr12:126138642C>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2623C>T	12.37:g.126138642C>T	ENSP00000299308:p.Gln875*					TMEM132B_uc001uhf.1_Nonsense_Mutation_p.Q387*	p.Q875*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2631	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		875			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	ENST00000299308.3	37	c.2623C>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	C	37	6.371571	0.97511	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	.	.	.	5.43	5.43	0.79202	.	0.219910	0.32608	N	0.005868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.2594	0.93961	0.0:1.0:0.0:0.0	.	.	.	.	X	875;387	.	ENSP00000299308:Q875X	Q	+	1	0	TMEM132B	124704595	0.997000	0.39634	0.009000	0.14445	0.972000	0.66771	7.262000	0.78410	2.543000	0.85770	0.655000	0.94253	CAA		PASS	0.507	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		27	51	27	51	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20413087	20413087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr13:20413087G>A	ENST00000337963.4	-	5	889	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	RP11-61K9.2_ENST00000422148.2_RNA|ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Nonsense_Mutation_p.Q209*	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	209						nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q209*(2)		kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GGCTGTTTCTGATTACTGGGA	0.373																																						uc010tcn.1																			2	Substitution - Nonsense(2)		lung(2)		0						c.(625-627)CAG>TAG		zinc finger protein 237 isoform 3							106.0	115.0	112.0					13																	20413087		2203	4300	6503	SO:0001587	stop_gained	9205					nucleus	zinc ion binding	g.chr13:20413087G>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.625C>T	13.37:g.20413087G>A	ENSP00000337034:p.Gln209*					ZMYM5_uc001umm.1_Nonsense_Mutation_p.Q33*|ZMYM5_uc001umn.2_Nonsense_Mutation_p.Q209*|ZMYM5_uc001umo.2_Intron	p.Q209*	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	5	890	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	209					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Nonsense_Mutation	SNP	ENST00000337963.4	37	c.625C>T		.	.	.	.	.	.	.	.	.	.	G	38	6.951857	0.97960	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382905	.	.	.	4.67	4.67	0.58626	.	0.115869	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.5622	18.1307	0.89600	0.0:0.0:1.0:0.0	.	.	.	.	X	209;199;209	.	ENSP00000337034:Q209X	Q	-	1	0	ZMYM5	19311087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.941000	0.92964	2.585000	0.87301	0.555000	0.69702	CAG		PASS	0.373	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		104	110	104	110	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36124678	36124678	+	Nonsense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr13:36124678C>G	ENST00000400445.3	+	42	7184	c.6650C>G	c.(6649-6651)tCa>tGa	p.S2217*	NBEA_ENST00000379939.2_Nonsense_Mutation_p.S2214*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.S2217*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.S2217*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.S10*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2217					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.S2217*(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)		GCTGTATTTTCAAGACGTTAC	0.358																																						uc001uvb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(6649-6651)TCA>TGA		neurobeachin							96.0	91.0	92.0					13																	36124678		1845	4098	5943	SO:0001587	stop_gained	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36124678C>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.6650C>G	13.37:g.36124678C>G	ENSP00000383295:p.Ser2217*					NBEA_uc010abi.2_Nonsense_Mutation_p.S873*|NBEA_uc010tee.1_Nonsense_Mutation_p.S10*|NBEA_uc010tef.1_Nonsense_Mutation_p.S10*|NBEA_uc010teg.1_Nonsense_Mutation_p.S10*	p.S2217*	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)	42	6856	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2217					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	ENST00000400445.3	37	c.6650C>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	C	52	18.881207	0.99911	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	19.8263	0.96618	0.0:1.0:0.0:0.0	.	.	.	.	X	2217;2217;2214;2217;844;10;10	.	ENSP00000308534:S2217X	S	+	2	0	NBEA	35022678	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.731000	0.84895	2.676000	0.91093	0.655000	0.94253	TCA		PASS	0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		29	33	29	33	---	---	---	---
RCBTB1	55213	broad.mit.edu	37	13	50134125	50134125	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr13:50134125G>A	ENST00000378302.2	-	5	633	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	RCBTB1_ENST00000258646.3_Missense_Mutation_p.L125F|RCBTB1_ENST00000546015.1_Missense_Mutation_p.L125F	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	125					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L125F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TTGATCAAGAGATTGGTACAG	0.488																																						uc001vde.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(373-375)CTC>TTC		regulator of chromosome condensation (RCC1) and							213.0	206.0	208.0					13																	50134125		2203	4300	6503	SO:0001583	missense	55213				cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr13:50134125G>A	AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.373C>T	13.37:g.50134125G>A	ENSP00000367552:p.Leu125Phe						p.L125F	NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)	5	634	-		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	125			RCC1 2.		Q8IY29|Q969U9	Missense_Mutation	SNP	ENST00000378302.2	37	c.373C>T	CCDS9418.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143740	0.77888	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.85088	-1.94;-1.94;-1.94	5.08	5.08	0.68730	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.061993	0.64402	D	0.000002	D	0.87321	0.6148	L	0.35487	1.065	0.58432	D	0.999998	D	0.63046	0.992	D	0.72625	0.978	D	0.87097	0.2176	10	0.46703	T	0.11	-10.6654	12.8607	0.57911	0.0784:0.0:0.9216:0.0	.	125	Q8NDN9	RCBT1_HUMAN	F	125	ENSP00000258646:L125F;ENSP00000367552:L125F;ENSP00000443293:L125F	ENSP00000258646:L125F	L	-	1	0	RCBTB1	49032126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.740000	0.55082	2.361000	0.80049	0.561000	0.74099	CTC		PASS	0.488	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044912.2	NM_018191		103	147	103	147	---	---	---	---
LIG4	3981	broad.mit.edu	37	13	108861930	108861930	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr13:108861930C>T	ENST00000356922.4	-	2	1959	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	LIG4_ENST00000405925.1_Missense_Mutation_p.E563K|LIG4_ENST00000442234.1_Missense_Mutation_p.E563K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	563					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.E563K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGTACGATCTCTGCTGCTTTA	0.413								Non-homologous end-joining																														uc001vqn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1687-1689)GAG>AAG	NHEJ	DNA ligase IV							101.0	95.0	97.0					13																	108861930		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861930C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1687G>A	13.37:g.108861930C>T	ENSP00000349393:p.Glu563Lys					LIG4_uc001vqo.2_Missense_Mutation_p.E563K|LIG4_uc010agg.1_Missense_Mutation_p.E496K|LIG4_uc010agf.2_Missense_Mutation_p.E563K|LIG4_uc001vqp.2_Missense_Mutation_p.E563K	p.E563K	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	1960	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		563					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1687G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672073	0.88348	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.67171	-0.25;-0.25;-0.25	5.74	5.74	0.90152	DNA ligase, ATP-dependent, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.90050	0.4148	10	0.66056	D	0.02	.	18.907	0.92466	0.0:1.0:0.0:0.0	.	563	P49917	DNLI4_HUMAN	K	563	ENSP00000385955:E563K;ENSP00000402030:E563K;ENSP00000349393:E563K	ENSP00000349393:E563K	E	-	1	0	LIG4	107659931	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.755000	0.85180	2.697000	0.92050	0.551000	0.68910	GAG		PASS	0.413	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		38	58	38	58	---	---	---	---
F10	2159	broad.mit.edu	37	13	113798358	113798358	+	Silent	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr13:113798358C>G	ENST00000375559.3	+	6	734	c.696C>G	c.(694-696)ctC>ctG	p.L232L	F10_ENST00000409306.1_Silent_p.L232L|F10_ENST00000375551.3_Silent_p.L232L	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	232					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)	p.L232L(1)		endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	ACAACAACCTCACCAGGATCG	0.617																																						uc001vsx.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(694-696)CTC>CTG		coagulation factor X preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						152.0	125.0	134.0					13																	113798358		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113798358C>G		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.696C>G	13.37:g.113798358C>G						F10_uc010agq.1_RNA|F10_uc001vsy.2_Silent_p.L232L|F10_uc001vsz.2_Silent_p.L232L	p.L232L	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		6	753	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	232					Q14340	Silent	SNP	ENST00000375559.3	37	c.696C>G	CCDS9530.1																																																																																				PASS	0.617	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3			52	77	52	77	---	---	---	---
MMP14	4323	broad.mit.edu	37	14	23311854	23311854	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:23311854G>T	ENST00000311852.6	+	4	877	c.616G>T	c.(616-618)Ggc>Tgc	p.G206C	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	206					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.G206C(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)	CTACTTCCCAGGCCCCAACAT	0.577																																						uc001whc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)GGC>TGC		matrix metalloproteinase 14 preproprotein							111.0	102.0	105.0					14																	23311854		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23311854G>T		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.616G>T	14.37:g.23311854G>T	ENSP00000308208:p.Gly206Cys						p.G206C	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	4	850	+	all_cancers(95;9.47e-05)		206			Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.616G>T	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097055	0.94197	.	.	ENSG00000157227	ENST00000311852	T	0.30448	1.53	5.67	5.67	0.87782	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	H	0.97186	3.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81269	-0.1009	10	0.87932	D	0	.	18.5249	0.90968	0.0:0.0:1.0:0.0	.	206	P50281	MMP14_HUMAN	C	206	ENSP00000308208:G206C	ENSP00000308208:G206C	G	+	1	0	MMP14	22381694	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	6.726000	0.74758	2.686000	0.91538	0.655000	0.94253	GGC		PASS	0.577	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		23	83	23	83	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23855739	23855739	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:23855739C>T	ENST00000356287.3	-	32	4773	c.4744G>A	c.(4744-4746)Gac>Aac	p.D1582N	MYH6_ENST00000405093.3_Missense_Mutation_p.D1582N|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1582					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.D1582N(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)		ATCTCCTCGTCCTTCTCTGCC	0.627																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4744-4746)GAC>AAC		myosin heavy chain 6							163.0	170.0	168.0					14																	23855739		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.chr14:23855739C>T	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.4744G>A	14.37:g.23855739C>T	ENSP00000348634:p.Asp1582Asn						p.D1582N	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4811	-	all_cancers(95;2.54e-05)		1582			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4744G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.049814	0.75846	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.80393	-1.37;-1.37	4.26	4.26	0.50523	Myosin tail (1);	.	.	.	.	T	0.81569	0.4850	M	0.65975	2.015	0.52099	D	0.999948	B	0.21071	0.051	B	0.30782	0.12	T	0.81250	-0.1018	9	0.59425	D	0.04	.	17.0404	0.86488	0.0:1.0:0.0:0.0	.	1582	P13533	MYH6_HUMAN	N	1582	ENSP00000386041:D1582N;ENSP00000348634:D1582N	ENSP00000348634:D1582N	D	-	1	0	MYH6	22925579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.754000	0.85163	2.052000	0.61016	0.561000	0.74099	GAC		PASS	0.627	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			122	204	122	204	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24526211	24526211	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:24526211T>A	ENST00000342740.5	+	13	1194	c.1040T>A	c.(1039-1041)cTc>cAc	p.L347H	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	347						cytoplasm (GO:0005737)		p.L347H(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		AATCCTGGGCTCCTCGCCACG	0.612																																						uc001wlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(1039-1041)CTC>CAC		leucine rich repeat containing 16B							39.0	40.0	40.0					14																	24526211		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24526211T>A	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1040T>A	14.37:g.24526211T>A	ENSP00000340467:p.Leu347His						p.L347H	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	13	1197	+			347			LRR 4.		Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.1040T>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813478	0.50527	.	.	ENSG00000186648	ENST00000342740	T	0.15834	2.39	5.12	5.12	0.69794	.	0.199683	0.33895	N	0.004460	T	0.23806	0.0576	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	P	0.61658	0.892	T	0.01305	-1.1390	10	0.42905	T	0.14	-0.0202	11.2309	0.48912	0.0:0.0:0.0:1.0	.	347	Q8ND23	LR16B_HUMAN	H	347	ENSP00000340467:L347H	ENSP00000340467:L347H	L	+	2	0	LRRC16B	23596051	0.977000	0.34250	1.000000	0.80357	0.986000	0.74619	0.638000	0.24674	2.161000	0.67846	0.379000	0.24179	CTC		PASS	0.612	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		7	17	7	17	---	---	---	---
MBIP	51562	broad.mit.edu	37	14	36780895	36780895	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:36780895C>G	ENST00000416007.4	-	6	761	c.674G>C	c.(673-675)aGa>aCa	p.R225T	MBIP_ENST00000359527.7_Missense_Mutation_p.R225T|MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Missense_Mutation_p.R225T	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	225	Interaction with MAP3K12.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|inactivation of MAPK activity involved in osmosensory signaling pathway (GO:0000173)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein kinase inhibitor activity (GO:0004860)	p.R225T(1)		breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		TCCTTCAGGTCTAGTCTGTGG	0.378																																						uc001wtm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)AGA>ACA		MAP3K12 binding inhibitory protein 1 isoform 1							106.0	88.0	94.0					14																	36780895		2203	4300	6503	SO:0001583	missense	51562				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity	g.chr14:36780895C>G	BC016821	CCDS9658.1, CCDS45096.1	14q13.2	2005-01-10			ENSG00000151332	ENSG00000151332			20427	protein-coding gene	gene with protein product		609431				10801814	Standard	NM_016586		Approved		uc001wtm.2	Q9NS73	OTTHUMG00000140222	ENST00000416007.4:c.674G>C	14.37:g.36780895C>G	ENSP00000399718:p.Arg225Thr					MBIP_uc001wto.2_Missense_Mutation_p.R225T|MBIP_uc010tpy.1_Missense_Mutation_p.R84T|MBIP_uc001wtn.2_Missense_Mutation_p.R225T	p.R225T	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)	6	762	-	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		225			Interaction with MAP3K12.		Q86TZ2|Q96AS5|Q9BS93|Q9NZE1	Missense_Mutation	SNP	ENST00000416007.4	37	c.674G>C	CCDS9658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.814697|4.814697	0.90790|0.90790	.|.	.|.	ENSG00000151332|ENSG00000151332	ENST00000416007;ENST00000318473;ENST00000359527;ENST00000396329;ENST00000553298|ENST00000553977	T;T;T|.	0.41758|.	0.99;0.99;0.99|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.041004|.	0.85682|.	D|.	0.000000|.	T|.	0.81983|.	0.4938|.	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.627;1.0;1.0;0.993|.	B;D;D;P|.	0.71414|.	0.294;0.961;0.973;0.848|.	T|.	0.79955|.	-0.1585|.	10|.	0.66056|.	D|.	0.02|.	-17.0901|-17.0901	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	199;225;225;225|.	B4DE55;Q9NS73-5;Q9NS73-3;Q9NS73|.	.;.;.;MBIP1_HUMAN|.	T|Y	225;225;225;232;185|221	ENSP00000399718:R225T;ENSP00000324444:R225T;ENSP00000352517:R225T|.	ENSP00000324444:R225T|.	R|X	-|-	2|3	0|2	MBIP|MBIP	35850646|35850646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	5.027000|5.027000	0.64109|0.64109	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	AGA|TAG		PASS	0.378	MBIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276685.2	NM_016586		24	49	24	49	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64494261	64494262	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:64494261_64494262GA>AT	ENST00000344113.4	+	43	6676_6677	c.6464_6465GA>AT	c.(6463-6465)aGA>aAT	p.R2155N	SYNE2_ENST00000358025.3_Missense_Mutation_p.R2155N|SYNE2_ENST00000554584.1_Missense_Mutation_p.R2155N|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2155					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.R2155N(1)|p.R2155K(1)|p.R2155S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGGATCTGAGATTAATGCTCA	0.317																																						uc001xgm.2																			3	Substitution - Missense(3)		lung(3)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(6463-6465)AGA>AAA|c.(6463-6465)AGA>AGT		spectrin repeat containing, nuclear envelope 2																																				SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64494261G>A|g.chr14:64494262A>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	Exception_encountered	14.37:g.64494261_64494262delinsAT	ENSP00000341781:p.Arg2155Asn					SYNE2_uc001xgl.2_Missense_Mutation_p.R2155K|SYNE2_uc001xgl.2_Missense_Mutation_p.R2155S	p.R2155K|p.R2155S	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	43	6694|6695	+			2155			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6464G>A|c.6465A>T	CCDS41963.1																																																																																				PASS	0.317	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		14	112|113	14	112	---	---	---	---
SAMD15	161394	broad.mit.edu	37	14	77845098	77845098	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:77845098G>C	ENST00000216471.4	+	1	1623	c.1337G>C	c.(1336-1338)aGa>aCa	p.R446T	SAMD15_ENST00000533095.2_Intron|TMED8_ENST00000216468.7_5'Flank	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	446								p.R446T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGCCTAAAAGAGGAAAGTTG	0.378																																						uc001xtq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1336-1338)AGA>ACA		hypothetical protein LOC161394							73.0	71.0	72.0					14																	77845098		2203	4300	6503	SO:0001583	missense	161394							g.chr14:77845098G>C	AK093282	CCDS32126.1	14q24.3	2013-01-10	2010-10-20	2010-10-20	ENSG00000100583	ENSG00000100583		"""Sterile alpha motif (SAM) domain containing"""	18631	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member A"", ""chromosome 14 open reading frame 174"""	FAM15A, C14orf174			Standard	XM_006720069		Approved	FLJ35963	uc001xtq.1	Q9P1V8		ENST00000216471.4:c.1337G>C	14.37:g.77845098G>C	ENSP00000216471:p.Arg446Thr					TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	p.R446T	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)	1	1337	+			446					Q2M3P3	Missense_Mutation	SNP	ENST00000216471.4	37	c.1337G>C	CCDS32126.1	.	.	.	.	.	.	.	.	.	.	G	6.057	0.378937	0.11466	.	.	ENSG00000100583	ENST00000216471	T	0.19532	2.14	4.49	-8.97	0.00758	.	.	.	.	.	T	0.07999	0.0200	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	9	0.13853	T	0.58	0.6568	1.5293	0.02532	0.42:0.1542:0.2679:0.1579	.	446	Q9P1V8	SAM15_HUMAN	T	446	ENSP00000216471:R446T	ENSP00000216471:R446T	R	+	2	0	SAMD15	76914851	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.104000	0.00603	-1.953000	0.01026	-1.250000	0.01514	AGA		PASS	0.378	SAMD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394587.2	NM_001010860		38	46	38	46	---	---	---	---
SERPINA5	5104	broad.mit.edu	37	14	95053973	95053973	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:95053973C>T	ENST00000554866.1	+	2	388	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	SERPINA5_ENST00000554276.1_Silent_p.L92L|SERPINA5_ENST00000553780.1_Silent_p.L92L|SERPINA5_ENST00000329597.7_Silent_p.L92L			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	92					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L92L(1)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GATGCAGATCCTGGAGGGCCT	0.597																																						uc001ydm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(274-276)CTG>TTG		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						25.0	27.0	26.0					14																	95053973		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95053973C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.274C>T	14.37:g.95053973C>T						SERPINA5_uc010ave.2_Silent_p.L92L|SERPINA5_uc001ydn.1_Silent_p.L92L	p.L92L	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	3	484	+			92					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.274C>T	CCDS9928.1																																																																																				PASS	0.597	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		6	35	6	35	---	---	---	---
NUDT14	256281	broad.mit.edu	37	14	105639498	105639498	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:105639498C>T	ENST00000392568.2	-	5	622	c.529G>A	c.(529-531)Gag>Aag	p.E177K	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	177	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ADP-ribose diphosphatase activity (GO:0047631)|metal ion binding (GO:0046872)|UDP-sugar diphosphatase activity (GO:0008768)	p.E177K(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCAATGAGCTCACCCTCCTCC	0.622										HNSCC(42;0.11)																												uc010tyn.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(529-531)GAG>AAG		nudix-type motif 14							83.0	72.0	75.0					14																	105639498		2201	4296	6497	SO:0001583	missense	256281					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	g.chr14:105639498C>T	AB087802	CCDS10000.1	14q32.33	2013-02-15			ENSG00000183828	ENSG00000183828		"""Nudix motif containing"""	20141	protein-coding gene	gene with protein product		609219				12429023	Standard	NM_177533		Approved	UGPP	uc010tyn.3	O95848	OTTHUMG00000170372	ENST00000392568.2:c.529G>A	14.37:g.105639498C>T	ENSP00000376349:p.Glu177Lys	HNSCC(42;0.11)				NUDT14_uc001yqi.2_RNA	p.E177K	NM_177533	NP_803877	O95848	NUD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	5	643	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	177			Nudix hydrolase.		Q86SJ8	Missense_Mutation	SNP	ENST00000392568.2	37	c.529G>A	CCDS10000.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947161	0.53186	.	.	ENSG00000183828	ENST00000392568	T	0.72282	-0.64	4.27	2.37	0.29283	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	H	0.96518	3.835	0.80722	D	1	P	0.51449	0.945	P	0.55055	0.767	D	0.83842	0.0258	10	0.87932	D	0	-27.7993	7.6667	0.28434	0.1872:0.6318:0.1809:0.0	.	177	O95848	NUD14_HUMAN	K	177	ENSP00000376349:E177K	ENSP00000376349:E177K	E	-	1	0	NUDT14	104710543	0.985000	0.35326	0.849000	0.33467	0.019000	0.09904	2.921000	0.48852	0.484000	0.27630	-0.521000	0.04368	GAG		PASS	0.622	NUDT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074544.4	NM_177533		33	36	33	36	---	---	---	---
IGHD	3495	broad.mit.edu	37	14	106311923	106311923	+	RNA	SNP	A	A	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:106311923A>G	ENST00000390556.2	-	0	87							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GTACCCAGTTATCAAGCATGC	0.562																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							137.0	133.0	134.0					14																	106311923		2101	4216	6317			8755							g.chr14:106311923A>G	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311923A>G						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Missense_Mutation_p.I44T|uc001ysk.1_Missense_Mutation_p.I44T|uc001ysl.1_Missense_Mutation_p.I44T|uc001ysm.1_5'UTR|uc001ysn.1_5'UTR|uc001yso.1_5'UTR								3608		-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37	c.57000T>C																																																																																					PASS	0.562	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		39	58	39	58	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34130533	34130533	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:34130533G>A	ENST00000389232.4	+	89	12422	c.12352G>A	c.(12352-12354)Gaa>Aaa	p.E4118K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4113K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4118					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E4117K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAAGAAGATGAAGATTCTTC	0.478																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(12352-12354)GAA>AAA		ryanodine receptor 3							147.0	145.0	145.0					15																	34130533		1902	4111	6013	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130533G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.12352G>A	15.37:g.34130533G>A	ENSP00000373884:p.Glu4118Lys					RYR3_uc010bar.2_Missense_Mutation_p.E4113K	p.E4118K	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12422	+		all_lung(180;7.18e-09)	4118					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.12352G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519980	0.27211	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97041	-4.22	5.8	3.94	0.45596	.	0.335138	0.30068	N	0.010495	D	0.95868	0.8655	M	0.73962	2.25	0.41471	D	0.988101	B;B	0.15930	0.015;0.005	B;B	0.22152	0.038;0.017	D	0.93224	0.6611	10	0.41790	T	0.15	.	12.1558	0.54077	0.1373:0.0:0.8627:0.0	.	4113;4118	Q15413-2;Q15413	.;RYR3_HUMAN	K	4118;4114	ENSP00000373884:E4118K	ENSP00000354735:E4114K	E	+	1	0	RYR3	31917825	1.000000	0.71417	0.839000	0.33178	0.174000	0.22865	6.304000	0.72800	0.812000	0.34326	0.563000	0.77884	GAA		PASS	0.478	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			83	111	83	111	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42053973	42053973	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:42053973G>A	ENST00000570161.1	+	20	7435	c.7435G>A	c.(7435-7437)Gac>Aac	p.D2479N	MGA_ENST00000389936.4_Missense_Mutation_p.D2440N|MGA_ENST00000545763.1_Missense_Mutation_p.D2270N|MGA_ENST00000566586.1_Missense_Mutation_p.D2270N|MGA_ENST00000219905.7_Missense_Mutation_p.D2479N			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.D2528N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGATCAGGCAGACAAATTGAT	0.373																																						uc010ucy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7435-7437)GAC>AAC		MAX-interacting protein isoform 1							54.0	46.0	48.0					15																	42053973		1834	4085	5919	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42053973G>A	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7435G>A	15.37:g.42053973G>A	ENSP00000457035:p.Asp2479Asn					MGA_uc010ucz.1_Missense_Mutation_p.D2270N|MGA_uc010uda.1_Missense_Mutation_p.D1095N	p.D2479N	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	21	7616	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2440					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7435G>A	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797341	0.90538	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.88431	-2.35;-2.35;-2.38	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000012	D	0.91277	0.7250	N	0.24115	0.695	0.34600	D	0.716386	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.997	D	0.93829	0.7126	10	0.87932	D	0	.	20.0165	0.97478	0.0:0.0:1.0:0.0	.	1095;2270;2479	B4DVS1;F5H7K2;E7ENI0	.;.;.	N	2479;2440;2270	ENSP00000219905:D2479N;ENSP00000374586:D2440N;ENSP00000442467:D2270N	ENSP00000219905:D2479N	D	+	1	0	MGA	39841265	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.432000	0.66514	2.736000	0.93811	0.557000	0.71058	GAC		PASS	0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	9	5	9	---	---	---	---
ZNF106	64397	broad.mit.edu	37	15	42742728	42742728	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:42742728C>A	ENST00000263805.4	-	2	1999	c.1673G>T	c.(1672-1674)aGt>aTt	p.S558I	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	558					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S558I(1)									GTTCCTGGTACTTTTAGAAGT	0.363																																						uc001zpw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1672-1674)AGT>ATT		zinc finger protein 106 homolog							95.0	95.0	95.0					15																	42742728		2203	4299	6502	SO:0001583	missense	64397					nucleolus	zinc ion binding	g.chr15:42742728C>A	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1673G>T	15.37:g.42742728C>A	ENSP00000263805:p.Ser558Ile					ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.S341I|ZFP106_uc001zpy.1_Missense_Mutation_p.S581I	p.S558I	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN		GBM - Glioblastoma multiforme(94;8.6e-07)	2	2008	-		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)	558					B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1673G>T	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479408	0.26511	.	.	ENSG00000103994	ENST00000263805	T	0.22539	1.95	4.99	3.11	0.35812	.	0.659483	0.16277	N	0.221501	T	0.12646	0.0307	N	0.19112	0.55	0.80722	D	1	B;B	0.25105	0.118;0.07	B;B	0.23018	0.037;0.043	T	0.09751	-1.0660	10	0.33141	T	0.24	-1.2029	8.5052	0.33184	0.0:0.7378:0.0:0.2622	.	341;558	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	I	558	ENSP00000263805:S558I	ENSP00000263805:S558I	S	-	2	0	ZFP106	40530020	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.052000	0.30429	0.815000	0.34398	0.543000	0.68304	AGT		PASS	0.363	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		32	196	32	196	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43724535	43724535	+	Missense_Mutation	SNP	T	T	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:43724535T>A	ENST00000263801.3	-	17	3769	c.3517A>T	c.(3517-3519)Act>Tct	p.T1173S	TP53BP1_ENST00000382044.4_Missense_Mutation_p.T1178S|TP53BP1_ENST00000450115.2_Missense_Mutation_p.T1178S|TP53BP1_ENST00000382039.3_Missense_Mutation_p.T1178S	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1173					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)	p.T1173S(1)		breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCTTTATAGTCTGGGTTGCT	0.483								Other conserved DNA damage response genes																														uc001zrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(3517-3519)ACT>TCT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							120.0	102.0	108.0					15																	43724535		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43724535T>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3517A>T	15.37:g.43724535T>A	ENSP00000263801:p.Thr1173Ser					TP53BP1_uc010udp.1_Missense_Mutation_p.T1173S|TP53BP1_uc001zrq.3_Missense_Mutation_p.T1178S|TP53BP1_uc001zrr.3_Missense_Mutation_p.T1178S|TP53BP1_uc010udq.1_Missense_Mutation_p.T1178S	p.T1173S	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	17	3665	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1173					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3517A>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.169069	0.78339	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.06068	3.44;3.44;3.35;3.4	4.79	4.79	0.61399	.	0.137136	0.49305	D	0.000142	T	0.21881	0.0527	M	0.71581	2.175	0.37892	D	0.930758	D;D;D;D	0.71674	0.997;0.997;0.998;0.998	D;D;D;D	0.76071	0.97;0.97;0.987;0.987	T	0.03443	-1.1036	10	0.32370	T	0.25	-15.2764	13.5891	0.61948	0.0:0.0:0.0:1.0	.	1178;1173;1178;1178	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	S	1173;1178;1178;1178	ENSP00000263801:T1173S;ENSP00000371475:T1178S;ENSP00000371470:T1178S;ENSP00000393497:T1178S	ENSP00000263801:T1173S	T	-	1	0	TP53BP1	41511827	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.173000	0.50839	2.146000	0.66826	0.528000	0.53228	ACT		PASS	0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			4	137	4	137	---	---	---	---
MYO5C	55930	broad.mit.edu	37	15	52486209	52486209	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:52486209C>T	ENST00000261839.7	-	41	5280	c.5119G>A	c.(5119-5121)Gat>Aat	p.D1707N	RP11-430B1.2_ENST00000560518.1_lincRNA|GNB5_ENST00000261837.7_5'Flank	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1707						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1707N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TATTTGGTATCCAACATCAGC	0.418																																						uc010bff.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(5119-5121)GAT>AAT		myosin VC							100.0	97.0	98.0					15																	52486209		1850	4099	5949	SO:0001583	missense	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52486209C>T	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.5119G>A	15.37:g.52486209C>T	ENSP00000261839:p.Asp1707Asn					GNB5_uc002abt.1_5'Flank|MYO5C_uc010uga.1_RNA|uc002abv.2_Intron	p.D1707N	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	41	5256	-			1707					Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	c.5119G>A	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124934	0.94429	.	.	ENSG00000128833	ENST00000261839	D	0.90133	-2.62	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94847	0.8010	10	0.54805	T	0.06	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	1707	Q9NQX4	MYO5C_HUMAN	N	1707	ENSP00000261839:D1707N	ENSP00000261839:D1707N	D	-	1	0	MYO5C	50273501	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.651000	0.83577	2.529000	0.85273	0.557000	0.71058	GAT		PASS	0.418	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728		5	125	5	125	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63054650	63054650	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:63054650C>G	ENST00000561311.1	+	38	5189	c.4959C>G	c.(4957-4959)atC>atG	p.I1653M	TLN2_ENST00000306829.6_Missense_Mutation_p.I1653M|TLN2_ENST00000472902.1_Missense_Mutation_p.I46M			Q9Y4G6	TLN2_HUMAN	talin 2	1653					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.I1653M(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACTTCTATCAGGTCAGTTT	0.522																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(4957-4959)ATC>ATG		talin 2							135.0	122.0	126.0					15																	63054650		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63054650C>G	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4959C>G	15.37:g.63054650C>G	ENSP00000453508:p.Ile1653Met					TLN2_uc002alc.3_Missense_Mutation_p.I46M|TLN2_uc002ald.2_Missense_Mutation_p.I46M	p.I1653M	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			36	4959	+			1653					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4959C>G	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889773	0.52014	.	.	ENSG00000171914	ENST00000306829	T	0.14144	2.53	5.2	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.08403	0.0209	N	0.16233	0.39	0.53688	D	0.99997	B;B	0.27068	0.167;0.059	B;B	0.29716	0.106;0.049	T	0.27773	-1.0064	10	0.26408	T	0.33	-19.5287	8.9874	0.36003	0.0:0.8:0.0:0.2	.	697;1653	G1UI21;Q9Y4G6	.;TLN2_HUMAN	M	1653	ENSP00000303476:I1653M	ENSP00000303476:I1653M	I	+	3	3	TLN2	60841942	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.787000	0.26858	2.426000	0.82243	0.655000	0.94253	ATC		PASS	0.522	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			47	90	47	90	---	---	---	---
HEXA	3073	broad.mit.edu	37	15	72643537	72643537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:72643537C>T	ENST00000268097.5	-	6	1112	c.609G>A	c.(607-609)tgG>tgA	p.W203*	HEXA_ENST00000566304.1_Nonsense_Mutation_p.W214*|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Nonsense_Mutation_p.W30*|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Nonsense_Mutation_p.W11*|HEXA_ENST00000567159.1_Nonsense_Mutation_p.W203*	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	203					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.W203*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CTACCAGATGCCAGTGGAACA	0.458																																						uc002aun.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(607-609)TGG>TGA		hexosaminidase A preproprotein							173.0	144.0	154.0					15																	72643537		2199	4297	6496	SO:0001587	stop_gained	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643537C>T	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.609G>A	15.37:g.72643537C>T	ENSP00000268097:p.Trp203*					uc002aug.2_RNA|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.1_Nonsense_Mutation_p.W214*|HEXA_uc002auo.3_Nonsense_Mutation_p.W66*|HEXA_uc010bix.2_Nonsense_Mutation_p.W203*|HEXA_uc010biy.2_Nonsense_Mutation_p.W66*|HEXA_uc010uko.1_Nonsense_Mutation_p.W29*|HEXA_uc010biz.1_RNA	p.W203*	NM_000520	NP_000511	P06865	HEXA_HUMAN			6	816	-			203					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Nonsense_Mutation	SNP	ENST00000268097.5	37	c.609G>A	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	31	5.062471	0.93898	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7567	20.0119	0.97458	0.0:1.0:0.0:0.0	.	.	.	.	X	203;11;30	.	ENSP00000268097:W203X	W	-	3	0	HEXA	70430591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.721000	0.84768	2.706000	0.92434	0.655000	0.94253	TGG		PASS	0.458	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		20	58	20	58	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77471836	77471836	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:77471836C>T	ENST00000560626.2	-	4	2908	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	PEAK1_ENST00000558305.1_Silent_p.K811K|PEAK1_ENST00000312493.4_Silent_p.K811K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	811	Pro-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.K811K(2)									CTGGCGTACTCTTAGGTGTGC	0.502																																						uc002bcm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(2431-2433)AAG>AAA		NKF3 kinase family member							82.0	86.0	84.0					15																	77471836		2039	4193	6232	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77471836C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2433G>A	15.37:g.77471836C>T						SGK269_uc002bcn.2_Silent_p.K811K	p.K811K	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	2741	-			811			Pro-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.2433G>A	CCDS42062.1																																																																																				PASS	0.502	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			58	75	58	75	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77473983	77473983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:77473983C>A	ENST00000560626.2	-	4	761	c.286G>T	c.(286-288)Gag>Tag	p.E96*	PEAK1_ENST00000558305.1_Nonsense_Mutation_p.E96*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E96*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	96					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E96*(2)|p.E96K(2)									GGTTTGTTCTCACAGTGTTCT	0.438																																						uc002bcm.2																			4	Substitution - Missense(2)|Substitution - Nonsense(2)		upper_aerodigestive_tract(2)|lung(2)		0						c.(286-288)GAG>TAG		NKF3 kinase family member							176.0	168.0	170.0					15																	77473983		1945	4141	6086	SO:0001587	stop_gained	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473983C>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.286G>T	15.37:g.77473983C>A	ENSP00000452796:p.Glu96*					SGK269_uc002bcn.2_Nonsense_Mutation_p.E96*	p.E96*	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	594	-			96					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	37	c.286G>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484020	0.96307	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.4514	13.2033	0.59780	0.0:0.9273:0.0:0.0727	.	.	.	.	X	96	.	ENSP00000309230:E96X	E	-	1	0	AC087465.1	75261038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.416000	0.59815	2.724000	0.93272	0.650000	0.86243	GAG		PASS	0.438	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			86	105	86	105	---	---	---	---
WDR93	56964	broad.mit.edu	37	15	90270543	90270543	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:90270543G>A	ENST00000268130.7	+	9	1137	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	WDR93_ENST00000444934.2_Missense_Mutation_p.E63K|WDR93_ENST00000560294.1_Missense_Mutation_p.E346K	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	346					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)	p.E346K(1)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TAGGGAGTGGGAGGAAGAGCC	0.552																																						uc002boj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1036-1038)GAG>AAG		WD repeat domain 93							34.0	35.0	35.0					15																	90270543		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90270543G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1036G>A	15.37:g.90270543G>A	ENSP00000268130:p.Glu346Lys					WDR93_uc010bnr.2_Missense_Mutation_p.E346K|WDR93_uc010upz.1_Missense_Mutation_p.E63K	p.E346K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		9	1137	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		346					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.1036G>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790892	0.31685	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.47869	1.82;0.83	5.59	3.61	0.41365	WD40 repeat-like-containing domain (1);	0.434676	0.21057	N	0.080884	T	0.34513	0.0900	L	0.42245	1.32	0.09310	N	1	B;B	0.20052	0.041;0.002	B;B	0.17722	0.019;0.008	T	0.06006	-1.0851	10	0.28530	T	0.3	-6.3724	6.4418	0.21854	0.0997:0.2:0.7003:0.0	.	346;346	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	K	346;63	ENSP00000268130:E346K;ENSP00000403871:E63K	ENSP00000268130:E346K	E	+	1	0	WDR93	88071547	0.040000	0.19996	0.704000	0.30370	0.103000	0.19146	1.451000	0.35145	2.631000	0.89168	0.563000	0.77884	GAG		PASS	0.552	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		17	23	17	23	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100345119	100345119	+	5'Flank	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr15:100345119C>T	ENST00000560059.1	+	0	0				CTD-2054N24.2_ENST00000559714.1_5'Flank|DNM1P46_ENST00000341853.1_RNA																							AGTTAGCTCTCGGCACATGGT	0.418																																						uc010urx.1																			0					0								Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.							65.0	64.0	64.0					15																	100345119		1535	3553	5088	SO:0001631	upstream_gene_variant	196968							g.chr15:100345119C>T																													15.37:g.100345119C>T	Exception_encountered					C15orf51_uc010ury.1_Intron|C15orf51_uc010urz.1_RNA|C15orf51_uc010bow.2_Intron|uc010box.2_5'Flank		NR_003260						2		-									RNA	SNP	ENST00000560059.1	37	c.148G>A																																																																																					PASS	0.418	CTD-2054N24.2-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000416905.2			39	83	39	83	---	---	---	---
BAIAP3	8938	broad.mit.edu	37	16	1394611	1394611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:1394611C>T	ENST00000324385.5	+	19	1932	c.1774C>T	c.(1774-1776)Cag>Tag	p.Q592*	BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.Q557*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.Q574*|BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.Q534*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.Q574*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.Q521*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.Q529*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	592					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.Q592*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCAGGACCACAGCGCCTGCC	0.642																																						uc002clk.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1774-1776)CAG>TAG		BAI1-associated protein 3							172.0	189.0	183.0					16																	1394611		2199	4300	6499	SO:0001587	stop_gained	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1394611C>T	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.1774C>T	16.37:g.1394611C>T	ENSP00000324510:p.Gln592*					BAIAP3_uc002clj.2_Nonsense_Mutation_p.Q574*|BAIAP3_uc010uuz.1_Nonsense_Mutation_p.Q557*|BAIAP3_uc010uva.1_Nonsense_Mutation_p.Q529*|BAIAP3_uc010uvc.1_Nonsense_Mutation_p.Q521*	p.Q592*	NM_003933	NP_003924	O94812	BAIP3_HUMAN			19	1774	+		Hepatocellular(780;0.0893)	592					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Nonsense_Mutation	SNP	ENST00000324385.5	37	c.1774C>T	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752097	0.96890	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.3	3.31	0.37934	.	0.059418	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-37.0057	8.797	0.34885	0.0:0.6838:0.3162:0.0	.	.	.	.	X	557;574;592;574;521	.	ENSP00000324510:Q592X	Q	+	1	0	BAIAP3	1334612	0.811000	0.29063	0.772000	0.31596	0.252000	0.25951	1.067000	0.30616	1.930000	0.55929	0.491000	0.48974	CAG		PASS	0.642	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			73	374	73	374	---	---	---	---
FOPNL	123811	broad.mit.edu	37	16	15978045	15978045	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:15978045C>T	ENST00000255759.6	-	2	75	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	FOPNL_ENST00000573429.1_Missense_Mutation_p.E16K|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.E16K|FOPNL_ENST00000573396.1_Missense_Mutation_p.E16K|FOPNL_ENST00000573968.1_Missense_Mutation_p.E16K	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	16	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.E16K(1)		breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CCCTTTTTTTCCAAGGTGTCC	0.373																																						uc002dec.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GAA>AAA		hypothetical protein LOC123811							51.0	55.0	54.0					16																	15978045		2197	4300	6497	SO:0001583	missense	123811				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding	g.chr16:15978045C>T	AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.46G>A	16.37:g.15978045C>T	ENSP00000255759:p.Glu16Lys					C16orf63_uc002ded.1_Missense_Mutation_p.E16K	p.E16K	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN			2	51	-			16			Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.		B3KPU9	Missense_Mutation	SNP	ENST00000255759.6	37	c.46G>A	CCDS10567.1	.	.	.	.	.	.	.	.	.	.	c	33	5.209427	0.95069	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.72118	2.19	0.53688	D	0.999978	D;D	0.59357	0.969;0.985	P;P	0.60345	0.59;0.873	T	0.75202	-0.3401	9	0.46703	T	0.11	-24.0757	17.6213	0.88082	0.0:1.0:0.0:0.0	.	16;16	B3KPU9;Q96NB1	.;FOPNL_HUMAN	K	16	.	ENSP00000255759:E16K	E	-	1	0	FOPNL	15885546	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.102000	0.77005	2.848000	0.98002	0.633000	0.83428	GAA		PASS	0.373	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252177.2	NM_144600		34	64	34	64	---	---	---	---
SLC5A11	115584	broad.mit.edu	37	16	24909416	24909416	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:24909416G>A	ENST00000347898.3	+	10	1614	c.992G>A	c.(991-993)cGc>cAc	p.R331H	SLC5A11_ENST00000569071.1_Silent_p.P198P|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R261H|SLC5A11_ENST00000424767.2_Missense_Mutation_p.R296H|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R267H|SLC5A11_ENST00000449109.2_Silent_p.P198P|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R296H|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R261H|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R267H	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.R331H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ATGGTCAGCCGCATCCTCTTC	0.502																																						uc002dmu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(991-993)CGC>CAC		solute carrier family 5 (sodium/glucose							120.0	95.0	104.0					16																	24909416		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24909416G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.992G>A	16.37:g.24909416G>A	ENSP00000289932:p.Arg331His					SLC5A11_uc002dms.2_Missense_Mutation_p.R267H|SLC5A11_uc010vcd.1_Missense_Mutation_p.R296H|SLC5A11_uc002dmt.2_Silent_p.P198P|SLC5A11_uc010vce.1_Missense_Mutation_p.R261H|SLC5A11_uc010bxt.2_Missense_Mutation_p.R267H	p.R331H	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	10	1224	+			331			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.992G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680076	0.88542	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.96549	0.8874	H	0.96720	3.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97722	1.0197	10	0.87932	D	0	.	16.9482	0.86236	0.0:0.0:1.0:0.0	.	261;296;331	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	H	331;296;261;267	ENSP00000289932:R331H;ENSP00000416782:R296H;ENSP00000441384:R261H;ENSP00000441018:R267H	ENSP00000289932:R331H	R	+	2	0	SLC5A11	24816917	1.000000	0.71417	0.942000	0.38095	0.688000	0.40055	9.657000	0.98554	2.612000	0.88384	0.655000	0.94253	CGC		PASS	0.502	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		59	91	59	91	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28917057	28917057	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:28917057C>T	ENST00000358201.4	-	11	2047	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	RABEP2_ENST00000544477.1_Missense_Mutation_p.E416K|RABEP2_ENST00000357573.6_Missense_Mutation_p.E451K	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	487					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E487K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTCCATCTCTGTCCTCAGG	0.672																																					Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1459-1461)GAG>AAG		rabaptin, RAB GTPase binding effector protein 2							42.0	48.0	46.0					16																	28917057		2053	4188	6241	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28917057C>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1459G>A	16.37:g.28917057C>T	ENSP00000350934:p.Glu487Lys					uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.E416K|RABEP2_uc010byn.2_Missense_Mutation_p.E451K	p.E487K	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			11	1507	-			487			Potential.			Missense_Mutation	SNP	ENST00000358201.4	37	c.1459G>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917309	0.92249	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.46063	0.88;0.88;0.88	5.07	5.07	0.68467	Rabaptin, GTPase-Rab5 binding (1);	0.065930	0.64402	D	0.000017	T	0.64768	0.2628	M	0.72894	2.215	0.49483	D	0.999796	D;D;P	0.76494	0.999;0.998;0.939	D;D;D	0.81914	0.995;0.991;0.919	T	0.68965	-0.5270	10	0.87932	D	0	-23.4424	17.2066	0.86920	0.0:1.0:0.0:0.0	.	416;451;487	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	K	487;451;416	ENSP00000350934:E487K;ENSP00000350186:E451K;ENSP00000442798:E416K	ENSP00000350186:E451K	E	-	1	0	RABEP2	28824558	0.997000	0.39634	0.945000	0.38365	0.942000	0.58702	3.846000	0.55888	2.356000	0.79943	0.491000	0.48974	GAG		PASS	0.672	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		37	46	37	46	---	---	---	---
CD2BP2	10421	broad.mit.edu	37	16	30365571	30365571	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:30365571C>T	ENST00000305596.3	-	3	326	c.151G>A	c.(151-153)Gag>Aag	p.E51K	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.E51K	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	51					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.E51K(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TCCTCCTCCTCATCGCTATCC	0.522																																						uc002dxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)GAG>AAG		CD2 antigen (cytoplasmic tail) binding protein							233.0	225.0	228.0					16																	30365571		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365571C>T	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.151G>A	16.37:g.30365571C>T	ENSP00000304903:p.Glu51Lys					CD2BP2_uc002dxs.2_Missense_Mutation_p.E51K	p.E51K	NM_006110	NP_006101	O95400	CD2B2_HUMAN			2	404	-			51					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.151G>A	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122098	0.77436	.	.	ENSG00000169217	ENST00000305596	T	0.37058	1.22	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.81614	2.55	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.68187	-0.5475	10	0.62326	D	0.03	-0.3632	16.9908	0.86353	0.0:1.0:0.0:0.0	.	51	O95400	CD2B2_HUMAN	K	51	ENSP00000304903:E51K	ENSP00000304903:E51K	E	-	1	0	CD2BP2	30273072	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.481000	0.73608	2.380000	0.81148	0.467000	0.42956	GAG		PASS	0.522	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		183	288	183	288	---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50120226	50120226	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:50120226G>A	ENST00000299192.7	+	11	1665	c.1474G>A	c.(1474-1476)Gca>Aca	p.A492T	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.A406T	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	492								p.A492T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TCAGACGCTTGCACAGCATCT	0.498																																						uc002efw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1474-1476)GCA>ACA		HEAT repeat containing 3							35.0	34.0	34.0					16																	50120226		2198	4299	6497	SO:0001583	missense	55027						binding	g.chr16:50120226G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1474G>A	16.37:g.50120226G>A	ENSP00000299192:p.Ala492Thr					HEATR3_uc002efx.2_Missense_Mutation_p.A406T	p.A492T	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			11	1636	+			492					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1474G>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427441	0.83667	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.65178	-0.14;-0.14	5.68	4.71	0.59529	Armadillo-type fold (1);	0.047119	0.85682	D	0.000000	T	0.73892	0.3645	M	0.69823	2.125	0.47949	D	0.999551	D;D	0.62365	0.991;0.972	P;P	0.58970	0.849;0.647	T	0.75190	-0.3405	10	0.44086	T	0.13	.	14.367	0.66812	0.0:0.0:0.7305:0.2695	.	406;492	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	T	406;492	ENSP00000285767:A406T;ENSP00000299192:A492T	ENSP00000285767:A406T	A	+	1	0	HEATR3	48677727	1.000000	0.71417	0.909000	0.35828	0.793000	0.44817	4.296000	0.59055	1.355000	0.45865	0.650000	0.86243	GCA		PASS	0.498	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		10	13	10	13	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54967521	54967521	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:54967521G>A	ENST00000394636.4	+	3	1525	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	IRX5_ENST00000560154.1_Silent_p.T176T|IRX5_ENST00000558597.1_Silent_p.T330T|IRX5_ENST00000320990.5_Silent_p.T395T|CTD-3032H12.2_ENST00000560487.1_lincRNA			P78411	IRX5_HUMAN	iroquois homeobox 5	396					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)	p.T396T(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CAGGCGGGACGGTGCTGTCCC	0.716																																						uc002ehv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1186-1188)ACG>ACA		iroquois homeobox protein 5							16.0	19.0	18.0					16																	54967521		2193	4273	6466	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967521G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.1188G>A	16.37:g.54967521G>A						IRX5_uc002ehw.2_Silent_p.T330T	p.T396T	NM_005853	NP_005844	P78411	IRX5_HUMAN			3	1188	+			396					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.1188G>A	CCDS10751.1																																																																																				PASS	0.716	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			22	32	22	32	---	---	---	---
CPNE2	221184	broad.mit.edu	37	16	57151476	57151476	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:57151476G>A	ENST00000535318.2	+	6	865	c.504G>A	c.(502-504)aaG>aaA	p.K168K	CPNE2_ENST00000290776.8_Silent_p.K168K|CPNE2_ENST00000565874.1_Silent_p.K168K|CPNE2_ENST00000537605.1_Silent_p.K66K			Q96FN4	CPNE2_HUMAN	copine II	168	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.K168K(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTGGACAAGAAGGTAAGGC	0.652																																						uc002eks.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(502-504)AAG>AAA		copine II							46.0	42.0	43.0					16																	57151476		2197	4299	6496	SO:0001819	synonymous_variant	221184							g.chr16:57151476G>A		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.504G>A	16.37:g.57151476G>A						CPNE2_uc010cct.1_Silent_p.K194K|CPNE2_uc010ccu.1_Silent_p.K168K	p.K168K	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			5	733	+		all_neural(199;0.224)	168			C2 2.		Q68D19|Q719H8|Q86XP9	Silent	SNP	ENST00000535318.2	37	c.504G>A	CCDS10774.1																																																																																				PASS	0.652	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		15	22	15	22	---	---	---	---
HSF4	3299	broad.mit.edu	37	16	67201678	67201678	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:67201678G>A	ENST00000521374.1	+	9	910	c.910G>A	c.(910-912)Gag>Aag	p.E304K	NOL3_ENST00000432069.2_5'Flank|HSF4_ENST00000584272.1_Intron|HSF4_ENST00000264009.8_Missense_Mutation_p.E304K|HSF4_ENST00000421453.1_Intron|NOL3_ENST00000564053.1_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	304	Interactions with DUSP26, MAPK1 and MAPK2.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E304K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GGGGGATGGCGAGGCCGGGCT	0.647																																						uc002erl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GAG>AAG		heat shock transcription factor 4 isoform b							13.0	20.0	18.0					16																	67201678		1888	4101	5989	SO:0001583	missense	3299				response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr16:67201678G>A	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.910G>A	16.37:g.67201678G>A	ENSP00000430947:p.Glu304Lys					HSF4_uc002erm.1_Intron|HSF4_uc002ern.1_Intron|HSF4_uc010cec.1_Intron|NOL3_uc010vjc.1_5'Flank	p.E304K	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)	11	1875	+		Ovarian(137;0.0563)	304			Interactions with DUSP26, MAPK1 and MAPK2.		Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	c.910G>A	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.178905	0.38511	.	.	ENSG00000102878	ENST00000264009;ENST00000521374	.	.	.	4.98	2.85	0.33270	.	0.741779	0.13092	N	0.414464	T	0.15089	0.0364	N	0.22421	0.69	0.80722	D	1	P	0.49253	0.921	B	0.26517	0.07	T	0.18241	-1.0343	9	0.08837	T	0.75	-17.2028	2.6434	0.04977	0.104:0.1883:0.5123:0.1953	.	304	Q9ULV5	HSF4_HUMAN	K	304	.	ENSP00000264009:E304K	E	+	1	0	HSF4	65759179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.451000	0.35145	1.294000	0.44707	0.561000	0.74099	GAG		PASS	0.647	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375080.1	NM_001538		11	9	11	9	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70928358	70928358	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:70928358G>T	ENST00000393567.2	-	55	9392	c.9242C>A	c.(9241-9243)gCg>gAg	p.A3081E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3081					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A638E(1)|p.A3032E(1)|p.A3080E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTACCTGAACGCGATCTCATA	0.522																																						uc002ezr.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(9238-9240)GCG>GAG		hydrocephalus inducing isoform a							66.0	64.0	65.0					16																	70928358		1902	4111	6013	SO:0001583	missense	54768							g.chr16:70928358G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9242C>A	16.37:g.70928358G>T	ENSP00000377197:p.Ala3081Glu						p.A3080E	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			55	9367	-		Ovarian(137;0.0654)	3081					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9239C>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	6.466	0.454192	0.12283	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00864	5.6	4.62	0.78	0.18556	.	1.372840	0.05511	U	0.560142	T	0.01029	0.0034	L	0.46157	1.445	0.39495	D	0.968108	B	0.21688	0.059	B	0.26310	0.068	T	0.53521	-0.8427	10	0.02654	T	1	.	4.3233	0.11027	0.272:0.3789:0.3491:0.0	.	3080	F8WD23	.	E	3081;3080	ENSP00000377197:A3081E	ENSP00000313052:A3080E	A	-	2	0	HYDIN	69485859	0.001000	0.12720	0.849000	0.33467	0.002000	0.02628	0.300000	0.19156	0.656000	0.30886	-0.424000	0.05967	GCG		PASS	0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			13	27	13	27	---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81725390	81725390	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:81725390G>A	ENST00000537098.3	+	11	1471	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	CMIP_ENST00000539778.2_Missense_Mutation_p.D373N|CMIP_ENST00000398040.4_Missense_Mutation_p.D314N|CMIP_ENST00000566513.1_3'UTR	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	467						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D467N(1)|p.D372N(1)		endometrium(5)|kidney(1)|lung(7)	13						GTCAGACTATGATGACTGGAG	0.527																																						uc002fgp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1399-1401)GAT>AAT		c-Maf-inducing protein isoform C-mip							124.0	122.0	123.0					16																	81725390		2000	4168	6168	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81725390G>A	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1399G>A	16.37:g.81725390G>A	ENSP00000446100:p.Asp467Asn					CMIP_uc002fgq.1_Missense_Mutation_p.D373N|CMIP_uc010vnq.1_Missense_Mutation_p.D280N|CMIP_uc002fgr.1_Missense_Mutation_p.D314N|CMIP_uc010vnr.1_5'Flank	p.D467N	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			11	1471	+			433					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1399G>A	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422345	0.62622	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.09817	2.94;2.94	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.18002	0.0432	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.996;0.996;0.997	D;D;D	0.73708	0.981;0.981;0.98	T	0.27088	-1.0084	10	0.21014	T	0.42	.	18.7939	0.91985	0.0:0.0:1.0:0.0	.	314;373;467	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	N	467;373;373;280	ENSP00000446100:D467N;ENSP00000440401:D373N	ENSP00000381120:D373N	D	+	1	0	CMIP	80282891	1.000000	0.71417	0.966000	0.40874	0.599000	0.36880	9.164000	0.94755	2.422000	0.82143	0.655000	0.94253	GAT		PASS	0.527	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		8	15	8	15	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89350994	89350994	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr16:89350994C>T	ENST00000301030.4	-	9	2416	c.1956G>A	c.(1954-1956)ctG>ctA	p.L652L	ANKRD11_ENST00000378330.2_Silent_p.L652L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	652	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L652L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTTCAACTTCAGCTCTTGGC	0.388																																						uc002fmx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1954-1956)CTG>CTA		ankyrin repeat domain 11							144.0	142.0	143.0					16																	89350994		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89350994C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1956G>A	16.37:g.89350994C>T						ANKRD11_uc002fmy.1_Silent_p.L652L|ANKRD11_uc002fnc.1_Silent_p.L652L|ANKRD11_uc002fnb.1_Silent_p.L609L	p.L652L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	2417	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	652			Lys-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.1956G>A	CCDS32513.1																																																																																				PASS	0.388	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		125	186	125	186	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1551211	1551211	+	5'Flank	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:1551211C>T	ENST00000263071.4	-	0	0				SCARF1_ENST00000571272.1_5'Flank|SCARF1_ENST00000348987.3_5'Flank|RILP_ENST00000301336.6_Missense_Mutation_p.E288K	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.E288K(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCATGGCCTCGAGCAGAAGG	0.607																																						uc002ftd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)GAG>AAG		Rab interacting lysosomal protein							113.0	84.0	94.0					17																	1551211		2203	4300	6503	SO:0001631	upstream_gene_variant	83547				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	g.chr17:1551211C>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551211C>T	Exception_encountered					SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	p.E288K	NM_031430	NP_113618	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1156	-			288			Necessary for the interaction with RAB7 and RAB34, lysosomal distribution and morphology.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.862G>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127284	0.94473	.	.	ENSG00000167705	ENST00000301336	T	0.46451	0.87	5.6	4.62	0.57501	.	0.150078	0.42053	D	0.000772	T	0.44582	0.1300	N	0.22421	0.69	0.40405	D	0.979698	D	0.67145	0.996	P	0.60117	0.869	T	0.35101	-0.9802	10	0.42905	T	0.14	-12.0086	12.9094	0.58171	0.0:0.9225:0.0:0.0775	.	288	Q96NA2	RILP_HUMAN	K	288	ENSP00000301336:E288K	ENSP00000301336:E288K	E	-	1	0	RILP	1497961	0.044000	0.20184	0.947000	0.38551	0.830000	0.47004	0.706000	0.25690	2.636000	0.89361	0.655000	0.94253	GAG		PASS	0.607	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		34	51	34	51	---	---	---	---
HIC1	3090	broad.mit.edu	37	17	1961106	1961106	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:1961106C>T	ENST00000322941.3	+	2	1179	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	HIC1_ENST00000399849.3_Silent_p.G374G|SMG6_ENST00000573166.1_5'Flank	NM_001098202.1	NP_001091672.1	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	393					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G374G(1)		large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GCGGCGACGGCGACGACTACA	0.781																																						uc010cjy.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1177-1179)GGC>GGT		hypermethylated in cancer 1 isoform 2							4.0	7.0	6.0					17																	1961106		1915	4013	5928	SO:0001819	synonymous_variant	3090				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:1961106C>T		CCDS42229.1, CCDS42230.1	17p13.3	2013-01-09				ENSG00000177374		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4909	protein-coding gene	gene with protein product		603825					Standard	NM_006497		Approved	ZBTB29, ZNF901	uc010cjy.3	Q14526		ENST00000322941.3:c.1179C>T	17.37:g.1961106C>T						HIC1_uc002fty.3_Silent_p.G374G|HIC1_uc002ftz.3_Silent_p.G374G	p.G393G	NM_001098202	NP_001091672	Q14526	HIC1_HUMAN		READ - Rectum adenocarcinoma(1115;0.236)	2	1179	+			393					D3DTI4	Silent	SNP	ENST00000322941.3	37	c.1179C>T	CCDS42229.1																																																																																				PASS	0.781	HIC1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438878.1	NM_006497		5	5	5	5	---	---	---	---
OR3A4P	390756	broad.mit.edu	37	17	3213742	3213742	+	RNA	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:3213742C>T	ENST00000573491.1	-	0	359																		p.L46L(1)									GAGGCACCCTCAGCATCCTGG	0.542																																						uc002fvi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(136-138)CTC>CTT		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							189.0	157.0	168.0					17																	3213742		2203	4300	6503			390756							g.chr17:3213742C>T																													17.37:g.3213742C>T							p.L46L	NR_024128						1	204	+									Silent	SNP	ENST00000573491.1	37	c.138C>T																																																																																					PASS	0.542	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			50	70	50	70	---	---	---	---
OR3A4P	390756	broad.mit.edu	37	17	3214068	3214068	+	RNA	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:3214068C>T	ENST00000573491.1	-	0	359																		p.S155F(1)									TGTGTCTTTTCCTTCACCAAT	0.547																																						uc002fvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(463-465)TCC>TTC		RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24;          Short=OR17-24;							145.0	147.0	147.0					17																	3214068		2203	4300	6503			390756							g.chr17:3214068C>T																													17.37:g.3214068C>T							p.S155F	NR_024128						1	530	+									Missense_Mutation	SNP	ENST00000573491.1	37	c.464C>T																																																																																					PASS	0.547	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			86	128	86	128	---	---	---	---
TRPV3	162514	broad.mit.edu	37	17	3427651	3427651	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:3427651G>A	ENST00000576742.1	-	13	1905	c.1584C>T	c.(1582-1584)atC>atT	p.I528I	TRPV3_ENST00000301365.4_Silent_p.I528I|TRPV3_ENST00000572519.1_Silent_p.I528I	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	528					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)	p.I528I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCACAGCTTGGATAAAACTGT	0.517																																						uc002fvt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1582-1584)ATC>ATT		transient receptor potential cation channel,	Menthol(DB00825)						90.0	84.0	86.0					17																	3427651		2203	4300	6503	SO:0001819	synonymous_variant	162514					integral to membrane	calcium channel activity	g.chr17:3427651G>A	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1584C>T	17.37:g.3427651G>A						TRPV3_uc002fvs.1_Intron|TRPV3_uc010vrh.1_Silent_p.I512I|TRPV3_uc010vri.1_Silent_p.I483I|TRPV3_uc010vrj.1_Silent_p.I512I|TRPV3_uc010vrk.1_Intron|TRPV3_uc010vrl.1_Silent_p.I512I|TRPV3_uc010vrm.1_Intron|TRPV3_uc002fvr.2_Silent_p.I528I|TRPV3_uc002fvu.2_Silent_p.I528I|TRPV3_uc010vrn.1_Intron	p.I528I	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			13	1906	-			528			Helical; (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	37	c.1584C>T	CCDS11029.1																																																																																				PASS	0.517	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		43	38	43	38	---	---	---	---
GP1BA	2811	broad.mit.edu	37	17	4837744	4837744	+	Silent	SNP	T	T	C	rs570118767		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:4837744T>C	ENST00000329125.5	+	2	1920	c.1845T>C	c.(1843-1845)ccT>ccC	p.P615P		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	615					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.P615P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGGTACGGCCTAATGGCCGTG	0.622											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010vsq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1804-1806)CCT>CCC		platelet glycoprotein Ib alpha polypeptide							63.0	69.0	67.0					17																	4837744		1969	4159	6128	SO:0001819	synonymous_variant	2811							g.chr17:4837744T>C		CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1845T>C	17.37:g.4837744T>C			OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	uc002fzn.1_RNA	p.P602P	NM_000173	NP_000164	P07359	GP1BA_HUMAN			3	1881	+			615					E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	c.1806T>C	CCDS54068.1																																																																																				PASS	0.622	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			3	130	3	130	---	---	---	---
C1QBP	708	broad.mit.edu	37	17	5337084	5337084	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:5337084C>T	ENST00000225698.4	-	4	562	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.E57K	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	161					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.E161K(1)		lung(2)|ovary(1)	3					Hyaluronan(DB08818)	GATGTCAGTTCAGGCTGGGGA	0.458																																						uc002gby.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(481-483)GAA>AAA		complement component 1, q subcomponent binding							141.0	125.0	131.0					17																	5337084		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5337084C>T	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.481G>A	17.37:g.5337084C>T	ENSP00000225698:p.Glu161Lys						p.E161K	NM_001212	NP_001203	Q07021	C1QBP_HUMAN			4	559	-			161					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.481G>A	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448800	0.96205	.	.	ENSG00000108561	ENST00000225698	.	.	.	5.32	5.32	0.75619	.	0.148684	0.64402	D	0.000010	T	0.75133	0.3808	M	0.80616	2.505	0.58432	D	0.999999	P	0.48911	0.917	P	0.51918	0.684	T	0.78886	-0.2027	9	0.72032	D	0.01	-19.85	18.1536	0.89684	0.0:1.0:0.0:0.0	.	161	Q07021	C1QBP_HUMAN	K	161	.	ENSP00000225698:E161K	E	-	1	0	C1QBP	5277808	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.466000	0.80914	2.768000	0.95171	0.650000	0.86243	GAA		PASS	0.458	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		76	114	76	114	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7700550	7700550	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:7700550C>T	ENST00000572933.1	+	51	9380	c.7920C>T	c.(7918-7920)atC>atT	p.I2640I	DNAH2_ENST00000389173.2_Silent_p.I2640I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2640					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.I2640I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGTCCAGCATCACACGGCTCT	0.537																																						uc002giu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7918-7920)ATC>ATT		dynein heavy chain domain 3							159.0	131.0	140.0					17																	7700550		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700550C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7920C>T	17.37:g.7700550C>T							p.I2640I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			50	7934	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2640					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7920C>T	CCDS32551.1																																																																																				PASS	0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		73	104	73	104	---	---	---	---
FOXN1	8456	broad.mit.edu	37	17	26861381	26861381	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:26861381G>A	ENST00000226247.2	+	6	989	c.960G>A	c.(958-960)cgG>cgA	p.R320R	FOXN1_ENST00000579795.1_Silent_p.R320R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R320R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ATTCTGTCCGGCACAACCTAT	0.582																																						uc010crm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(958-960)CGG>CGA		forkhead box N1							82.0	80.0	81.0					17																	26861381		2203	4300	6503	SO:0001819	synonymous_variant	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26861381G>A	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.960G>A	17.37:g.26861381G>A						FOXN1_uc002hbj.2_Silent_p.R320R	p.R320R	NM_003593	NP_003584	O15353	FOXN1_HUMAN			7	1158	+	Lung NSC(42;0.00431)		320			Fork-head.		B2R9Q7|O15352	Silent	SNP	ENST00000226247.2	37	c.960G>A	CCDS11232.1																																																																																				PASS	0.582	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			4	124	4	124	---	---	---	---
CHAD	1101	broad.mit.edu	37	17	48545632	48545632	+	Silent	SNP	G	G	A	rs542700767		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:48545632G>A	ENST00000508540.1	-	1	695	c.543C>T	c.(541-543)aaC>aaT	p.N181N	ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|CHAD_ENST00000258969.4_Silent_p.N181N|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	181					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)		p.N181N(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCTCAACGCGTTTTCCGACA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19252	0.0		0.0	False		,,,				2504	0.0					uc010dbr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(541-543)AAC>AAT		chondroadherin precursor							69.0	77.0	74.0					17																	48545632		2203	4300	6503	SO:0001819	synonymous_variant	1101				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr17:48545632G>A	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.543C>T	17.37:g.48545632G>A						ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.2_Silent_p.N181N|ACSF2_uc010dbt.1_5'Flank	p.N181N	NM_001267	NP_001258	O15335	CHAD_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.55e-09)		1	596	-	Breast(11;1.93e-18)		181			LRR 5.		A8K812|Q6GTU0|Q96RJ5	Silent	SNP	ENST00000508540.1	37	c.543C>T	CCDS11568.1																																																																																				PASS	0.622	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367447.3	NM_001267		69	113	69	113	---	---	---	---
TUBD1	51174	broad.mit.edu	37	17	57951925	57951925	+	Silent	SNP	G	G	A	rs534610332		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:57951925G>A	ENST00000592426.1	-	5	909	c.909C>T	c.(907-909)ctC>ctT	p.L303L	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Silent_p.L87L|TUBD1_ENST00000325752.3_Silent_p.L303L|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000394239.3_Silent_p.L303L			Q9UJT1	TBD_HUMAN	tubulin, delta 1	303					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L303L(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CATTAGAAATGAGCATCTGTC	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15437	0.0		0.0	False		,,,				2504	0.0					uc002ixw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(907-909)CTC>CTT		delta-tubulin							201.0	194.0	196.0					17																	57951925		2203	4300	6503	SO:0001819	synonymous_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57951925G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.909C>T	17.37:g.57951925G>A						TUBD1_uc010ddf.1_Intron|TUBD1_uc010ddg.1_Silent_p.L268L|TUBD1_uc010ddh.1_Intron|TUBD1_uc010wok.1_Silent_p.L303L|TUBD1_uc002ixx.1_Intron|TUBD1_uc010wol.1_Silent_p.L87L|TUBD1_uc010ddi.1_Intron	p.L303L	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		6	1187	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		303					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	ENST00000592426.1	37	c.909C>T	CCDS11620.1																																																																																				PASS	0.423	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		74	250	74	250	---	---	---	---
SPHK1	8877	broad.mit.edu	37	17	74382930	74382930	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:74382930C>T	ENST00000545180.1	+	8	1227	c.418C>T	c.(418-420)Cta>Tta	p.L140L	SPHK1_ENST00000590959.1_Silent_p.L154L|SPHK1_ENST00000592299.1_Silent_p.L140L|SPHK1_ENST00000323374.4_Silent_p.L226L|SPHK1_ENST00000392496.3_Silent_p.L140L			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	140	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)	p.L226L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CAACTGCACGCTATTGCTGTG	0.602																																					GBM(90;966 1307 27369 33775 44498)	uc002jrf.1																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(418-420)CTA>TTA		sphingosine kinase 1 isoform 3							78.0	78.0	78.0					17																	74382930		2203	4300	6503	SO:0001819	synonymous_variant	8877				'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|calmodulin binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|DNA binding|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity	g.chr17:74382930C>T	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.418C>T	17.37:g.74382930C>T						SPHK1_uc002jrg.1_Silent_p.L89L|SPHK1_uc002jrh.2_Silent_p.L154L|SPHK1_uc002jrj.2_Silent_p.L226L|SPHK1_uc002jri.2_Silent_p.L140L|SPHK1_uc002jrk.3_Silent_p.L140L|uc010wtd.1_RNA	p.L140L	NM_001142602	NP_001136074	Q9NYA1	SPHK1_HUMAN			8	1227	+			140			DAGKc.		Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Silent	SNP	ENST00000545180.1	37	c.418C>T	CCDS45785.1																																																																																				PASS	0.602	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972		11	102	11	102	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79425950	79425950	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr17:79425950G>A	ENST00000307745.7	+	24	5560	c.5560G>A	c.(5560-5562)Gag>Aag	p.E1854K	RP11-1055B8.8_ENST00000572590.1_RNA														p.E1854K(1)									ggaggaagaggaggaggaCAG	0.667																																						uc002kaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(5560-5562)GAG>AAG		BAH domain and coiled-coil containing 1							16.0	21.0	20.0					17																	79425950		2161	4262	6423	SO:0001583	missense	57597						DNA binding	g.chr17:79425950G>A																												ENST00000307745.7:c.5560G>A	17.37:g.79425950G>A	ENSP00000303486:p.Glu1854Lys					BAHCC1_uc002kae.2_Missense_Mutation_p.E1084K	p.E1854K	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		18	5560	+	all_neural(118;0.0804)|Melanoma(429;0.242)		1854						Missense_Mutation	SNP	ENST00000307745.7	37	c.5560G>A		.	.	.	.	.	.	.	.	.	.	G	6.997	0.554091	0.13374	.	.	ENSG00000171282	ENST00000307745	T	0.41400	1.0	1.93	0.937	0.19494	.	0.860651	0.09557	U	0.786043	T	0.26412	0.0645	L	0.34521	1.04	0.09310	N	1	P;P	0.52842	0.956;0.73	B;B	0.38712	0.275;0.28	T	0.16070	-1.0415	10	0.52906	T	0.07	.	4.3805	0.11291	0.2048:0.0:0.7952:0.0	.	1854;1854	Q9P281;F8WBW8	BAHC1_HUMAN;.	K	1854	ENSP00000303486:E1854K	ENSP00000303486:E1854K	E	+	1	0	AC110285.1	77040545	0.005000	0.15991	0.002000	0.10522	0.404000	0.30871	0.362000	0.20284	0.357000	0.24183	0.455000	0.32223	GAG		PASS	0.667	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				3	11	3	11	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19379821	19379821	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr18:19379821G>A	ENST00000261537.6	+	9	1521	c.1257G>A	c.(1255-1257)ctG>ctA	p.L419L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	419					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L419L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CACAACTCCTGAAGAAATTAT	0.353																																						uc002ktq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1255-1257)CTG>CTA		mindbomb homolog 1							96.0	99.0	98.0					18																	19379821		2203	4299	6502	SO:0001819	synonymous_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19379821G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1257G>A	18.37:g.19379821G>A						MIB1_uc002ktp.2_Silent_p.L58L	p.L419L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		9	1257	+			419					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.1257G>A	CCDS11871.1																																																																																				PASS	0.353	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		42	61	42	61	---	---	---	---
ZNF396	252884	broad.mit.edu	37	18	32949403	32949403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr18:32949403G>A	ENST00000589332.1	-	4	915	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	ZNF396_ENST00000306346.1_Nonsense_Mutation_p.Q262*			Q96N95	ZN396_HUMAN	zinc finger protein 396	262					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.Q262*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GCTGAGCTCTGACTAAAGATT	0.408																																						uc010xcf.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(784-786)CAG>TAG		zinc finger protein 396							182.0	176.0	178.0					18																	32949403		2203	4300	6503	SO:0001587	stop_gained	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32949403G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.784C>T	18.37:g.32949403G>A	ENSP00000466500:p.Gln262*						p.Q262*	NM_145756	NP_665699	Q96N95	ZN396_HUMAN			4	916	-			262			C2H2-type 1.		A1L3V0|Q8NF98|Q8TD80	Nonsense_Mutation	SNP	ENST00000589332.1	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	G	19.31	3.803226	0.70682	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	.	.	.	4.1	4.1	0.47936	.	0.000000	0.35436	U	0.003207	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	14.188	0.65620	0.0:0.0:1.0:0.0	.	.	.	.	X	262	.	ENSP00000302310:Q262X	Q	-	1	0	ZNF396	31203401	0.000000	0.05858	1.000000	0.80357	0.427000	0.31564	0.831000	0.27476	2.288000	0.76882	0.650000	0.86243	CAG		PASS	0.408	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		64	93	64	93	---	---	---	---
SKA1	220134	broad.mit.edu	37	18	47906588	47906588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr18:47906588C>T	ENST00000285116.3	+	3	392	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	SKA1_ENST00000398452.2_Nonsense_Mutation_p.Q61*|SKA1_ENST00000417656.2_Nonsense_Mutation_p.Q61*|SKA1_ENST00000488454.1_Intron	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	61					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)	p.Q61*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATTGGAAATTCAGTATCAAGA	0.299																																						uc002let.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(181-183)CAG>TAG		spindle and KT associated 1							41.0	46.0	45.0					18																	47906588		2200	4279	6479	SO:0001587	stop_gained	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47906588C>T	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.181C>T	18.37:g.47906588C>T	ENSP00000285116:p.Gln61*					SKA1_uc002leu.2_Nonsense_Mutation_p.Q61*|SKA1_uc010xdl.1_Nonsense_Mutation_p.Q61*	p.Q61*	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN			3	365	+			61			Potential.		B2R9Y6|B4E0P4	Nonsense_Mutation	SNP	ENST00000285116.3	37	c.181C>T	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	C	37	6.144570	0.97324	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	.	.	.	6.06	3.26	0.37387	.	0.362477	0.31859	N	0.006960	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-1.3964	14.3836	0.66929	0.0:0.5147:0.4853:0.0	.	.	.	.	X	61	.	ENSP00000285116:Q61X	Q	+	1	0	SKA1	46160586	0.992000	0.36948	0.987000	0.45799	0.991000	0.79684	0.249000	0.18216	0.409000	0.25649	0.650000	0.86243	CAG		PASS	0.299	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	NM_145060		44	71	44	71	---	---	---	---
MAPK4	5596	broad.mit.edu	37	18	48241563	48241563	+	Missense_Mutation	SNP	G	G	C			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr18:48241563G>C	ENST00000400384.2	+	3	1697	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	MAPK4_ENST00000540640.1_Missense_Mutation_p.E10Q|MAPK4_ENST00000592595.1_Missense_Mutation_p.E221Q	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.E221Q(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CATCCTGGCTGAGATGCTTAC	0.532																																						uc002lev.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)	6						c.(661-663)GAG>CAG		mitogen-activated protein kinase 4							99.0	97.0	97.0					18																	48241563		2037	4193	6230	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48241563G>C	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.661G>C	18.37:g.48241563G>C	ENSP00000383234:p.Glu221Gln					MAPK4_uc010xdm.1_Missense_Mutation_p.E10Q|MAPK4_uc010doz.2_Missense_Mutation_p.E221Q	p.E221Q	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	3	1661	+		Colorectal(6;0.0297)	221			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.661G>C	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073483	0.94000	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.56275	0.47;0.47	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000012	T	0.76478	0.3993	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.80627	-0.1298	10	0.87932	D	0	-22.174	17.8414	0.88716	0.0:0.0:1.0:0.0	.	221;221	Q0VG04;P31152	.;MK04_HUMAN	Q	221;10	ENSP00000383234:E221Q;ENSP00000439231:E10Q	ENSP00000383234:E221Q	E	+	1	0	MAPK4	46495561	1.000000	0.71417	0.948000	0.38648	0.931000	0.56810	9.843000	0.99491	2.505000	0.84491	0.555000	0.69702	GAG		PASS	0.532	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		43	56	43	56	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74580737	74580737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr18:74580737C>T	ENST00000253159.8	+	4	652	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	ZNF236_ENST00000583095.1_3'UTR|ZNF236_ENST00000320610.9_Nonsense_Mutation_p.Q154*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	152					cellular response to glucose stimulus (GO:0071333)|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.Q152*(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGGAACCCGGCAGCATGCCTG	0.527																																						uc002lmi.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)	4						c.(454-456)CAG>TAG		zinc finger protein 236							100.0	106.0	104.0					18																	74580737		2023	4192	6215	SO:0001587	stop_gained	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74580737C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.454C>T	18.37:g.74580737C>T	ENSP00000253159:p.Gln152*					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Nonsense_Mutation_p.Q152*	p.Q152*	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	4	652	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	152					B2RTX9|Q9UL37	Nonsense_Mutation	SNP	ENST00000253159.8	37	c.454C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.239438	0.39598	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	5.37	-10.7	0.00240	.	20.893500	0.00622	N	0.000451	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	6.2131	0.20640	0.5179:0.2701:0.1448:0.0672	.	.	.	.	X	152	.	ENSP00000253159:Q152X	Q	+	1	0	ZNF236	72709725	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.070000	0.11523	-3.561000	0.00141	-0.302000	0.09304	CAG		PASS	0.527	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			66	110	66	110	---	---	---	---
WDR18	57418	broad.mit.edu	37	19	994262	994262	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:994262G>A	ENST00000251289.5	+	10	1241	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	WDR18_ENST00000587001.2_Silent_p.E383E	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	406					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E406E(1)		endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAGCTGGAGGACGAGGTGC	0.687																																						uc002lqm.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1216-1218)GAG>GAA		WD repeat domain 18							59.0	43.0	49.0					19																	994262		2198	4297	6495	SO:0001819	synonymous_variant	57418							g.chr19:994262G>A		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.1218G>A	19.37:g.994262G>A						WDR18_uc002lqn.1_RNA|WDR18_uc010drx.1_Silent_p.E369E|WDR18_uc010dry.1_Silent_p.E383E	p.E406E	NM_024100	NP_077005	Q9BV38	WDR18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1244	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	406					O60390|Q9BWR2	Silent	SNP	ENST00000251289.5	37	c.1218G>A	CCDS12051.1																																																																																				PASS	0.687	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2			15	17	15	17	---	---	---	---
FSD1	79187	broad.mit.edu	37	19	4318941	4318941	+	Silent	SNP	A	A	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:4318941A>T	ENST00000221856.6	+	10	1179	c.1032A>T	c.(1030-1032)acA>acT	p.T344T	FSD1_ENST00000597590.1_Silent_p.T344T|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.T344T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTCCTACACAGTTCTGGGTA	0.607																																						uc002lzy.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1030-1032)ACA>ACT		fibronectin type III and SPRY domain containing							43.0	40.0	41.0					19																	4318941		2203	4300	6503	SO:0001819	synonymous_variant	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4318941A>T	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.1032A>T	19.37:g.4318941A>T						FSD1_uc002lzz.2_Silent_p.T344T|FSD1_uc002maa.2_Silent_p.T157T	p.T344T	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1185	+			344			B30.2/SPRY.		B2RDT0|Q9BXN0|Q9HAG4	Silent	SNP	ENST00000221856.6	37	c.1032A>T	CCDS12127.1																																																																																				PASS	0.607	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		30	73	30	73	---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6752605	6752605	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:6752605C>T	ENST00000245908.6	-	10	1999	c.1730G>A	c.(1729-1731)tGa>tAa	p.*577*	SH2D3A_ENST00000437152.3_Silent_p.*484*|SH2D3A_ENST00000599563.1_5'Flank|CTD-3128G10.6_ENST00000594056.1_RNA	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	0					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.*577*(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCTGCGCTCTCAGCGGTCAGG	0.667																																						uc002mft.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(1729-1731)TGA>TAA		SH2 domain containing 3A							16.0	22.0	20.0					19																	6752605		2196	4290	6486	SO:0001819	synonymous_variant	10045				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr19:6752605C>T	AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1730G>A	19.37:g.6752605C>T						SH2D3A_uc010xjg.1_Silent_p.*484*	p.*577*	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN			10	1924	-			577					A8K9R6|B4DRS7|Q9Y2X4	Silent	SNP	ENST00000245908.6	37	c.1730G>A	CCDS12173.1																																																																																				PASS	0.667	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458016.1	NM_005490		5	4	5	4	---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7606545	7606545	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:7606545C>T	ENST00000221249.6	+	12	1457	c.1026C>T	c.(1024-1026)acC>acT	p.T342T	PNPLA6_ENST00000450331.3_Silent_p.T342T|PNPLA6_ENST00000545201.2_Silent_p.T342T|PNPLA6_ENST00000414982.3_Silent_p.T390T|PNPLA6_ENST00000600737.1_Silent_p.T381T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	381					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.T342T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGATCCCACCGGGGCCCCGC	0.682																																						uc010xjq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1168-1170)ACC>ACT		neuropathy target esterase isoform b							4.0	7.0	6.0					19																	7606545		2104	4188	6292	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606545C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1026C>T	19.37:g.7606545C>T						PNPLA6_uc002mgq.1_Silent_p.T342T|PNPLA6_uc010xjp.1_Silent_p.T342T|PNPLA6_uc002mgr.1_Silent_p.T342T|PNPLA6_uc002mgs.2_Silent_p.T381T	p.T390T	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			11	1365	+			381			Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.1170C>T	CCDS32891.1																																																																																				PASS	0.682	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		8	6	8	6	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9060544	9060544	+	Missense_Mutation	SNP	G	G	C	rs558927351		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:9060544G>C	ENST00000397910.4	-	3	27105	c.26902C>G	c.(26902-26904)Cca>Gca	p.P8968A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8970	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P8968A(2)|p.P4601A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGACCACTGGAGATGTCACT	0.463																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(26902-26904)CCA>GCA		mucin 16							209.0	194.0	199.0					19																	9060544		1978	4169	6147	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060544G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26902C>G	19.37:g.9060544G>C	ENSP00000381008:p.Pro8968Ala						p.P8968A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27106	-			8970			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26902C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.628	0.116730	0.08881	.	.	ENSG00000181143	ENST00000397910	T	0.62364	0.03	2.62	-1.32	0.09201	.	.	.	.	.	T	0.46190	0.1380	L	0.43923	1.385	.	.	.	B	0.32573	0.376	B	0.28784	0.094	T	0.46148	-0.9212	8	0.87932	D	0	.	4.4305	0.11525	0.168:0.4839:0.3481:0.0	.	8968	B5ME49	.	A	8968	ENSP00000381008:P8968A	ENSP00000381008:P8968A	P	-	1	0	MUC16	8921544	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.716000	0.04991	-0.160000	0.11002	0.306000	0.20318	CCA		PASS	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		99	135	99	135	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600376	10600376	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:10600376C>G	ENST00000171111.5	-	4	2026	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.E493D	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	493					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.E493D(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ACTCGTTCCTCTCTGGGTAGT	0.597																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1477-1479)GAG>GAC		kelch-like ECH-associated protein 1							106.0	85.0	92.0					19																	10600376		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600376C>G	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1479G>C	19.37:g.10600376C>G	ENSP00000171111:p.Glu493Asp					KEAP1_uc002mop.1_Missense_Mutation_p.E211D|KEAP1_uc002mor.1_Missense_Mutation_p.E493D	p.E493D	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1635	-			493			Kelch 4.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1479G>C	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447643	0.43429	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.79141	-1.24;-1.24	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.101717	0.64402	D	0.000003	T	0.70185	0.3195	L	0.32530	0.975	0.54753	D	0.999987	B	0.02656	0.0	B	0.12156	0.007	T	0.62969	-0.6741	10	0.30854	T	0.27	.	17.5827	0.87973	0.0:1.0:0.0:0.0	.	493	Q14145	KEAP1_HUMAN	D	493	ENSP00000171111:E493D;ENSP00000377245:E493D	ENSP00000171111:E493D	E	-	3	2	KEAP1	10461376	0.488000	0.25996	1.000000	0.80357	0.716000	0.41182	0.904000	0.28491	2.752000	0.94435	0.558000	0.71614	GAG		PASS	0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		34	56	34	56	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602799	10602799	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:10602799C>T	ENST00000171111.5	-	3	1326	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	KEAP1_ENST00000588024.1_5'UTR|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.R260Q	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	260	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R260Q(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GTAGAACCGTCGCTGTTCGCA	0.627																																						uc002moq.1																			1	Substitution - Missense(1)	p.R260*(1)	lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(778-780)CGA>CAA		kelch-like ECH-associated protein 1							68.0	64.0	66.0					19																	10602799		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602799C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.779G>A	19.37:g.10602799C>T	ENSP00000171111:p.Arg260Gln					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.R260Q	p.R260Q	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	935	-			260			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.779G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388548	0.95988	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.73363	-0.74;-0.74	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90793	0.7109	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93312	0.6685	10	0.87932	D	0	.	17.1459	0.86766	0.0:1.0:0.0:0.0	.	260	Q14145	KEAP1_HUMAN	Q	260	ENSP00000171111:R260Q;ENSP00000377245:R260Q	ENSP00000171111:R260Q	R	-	2	0	KEAP1	10463799	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	5.893000	0.69798	2.656000	0.90262	0.561000	0.74099	CGA		PASS	0.627	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		38	59	38	59	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15465863	15465863	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:15465863C>T	ENST00000269701.2	-	14	2002	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	648					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E648K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCCAGCCTCTGCAGCCTCA	0.607																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1942-1944)GAG>AAG		A-kinase anchor protein 8							64.0	56.0	59.0					19																	15465863		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15465863C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1942G>A	19.37:g.15465863C>T	ENSP00000269701:p.Glu648Lys					AKAP8_uc010dzy.2_Missense_Mutation_p.E197K	p.E648K	NM_005858	NP_005849	O43823	AKAP8_HUMAN			14	2003	-			648						Missense_Mutation	SNP	ENST00000269701.2	37	c.1942G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916483	0.33815	.	.	ENSG00000105127	ENST00000269701	T	0.48522	0.81	4.89	2.57	0.30868	.	2.955320	0.01304	N	0.010385	T	0.41604	0.1166	L	0.32530	0.975	0.09310	N	0.999996	B	0.26935	0.164	B	0.19946	0.027	T	0.32561	-0.9902	10	0.36615	T	0.2	-13.8893	11.2013	0.48743	0.0:0.6393:0.3607:0.0	.	648	O43823	AKAP8_HUMAN	K	648	ENSP00000269701:E648K	ENSP00000269701:E648K	E	-	1	0	AKAP8	15326863	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.712000	0.05013	0.492000	0.27815	0.655000	0.94253	GAG		PASS	0.607	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		26	52	26	52	---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17893894	17893894	+	Missense_Mutation	SNP	G	G	A	rs567973416		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:17893894G>A	ENST00000596536.1	+	24	2289	c.2006G>A	c.(2005-2007)gGg>gAg	p.G669E	FCHO1_ENST00000595033.1_Missense_Mutation_p.G619E|FCHO1_ENST00000597512.1_Missense_Mutation_p.G676E|FCHO1_ENST00000594202.1_Missense_Mutation_p.G669E|FCHO1_ENST00000539407.1_Missense_Mutation_p.G669E|FCHO1_ENST00000600676.1_Missense_Mutation_p.G669E|FCHO1_ENST00000596951.1_Missense_Mutation_p.G669E|FCHO1_ENST00000389133.4_Missense_Mutation_p.G669E|FCHO1_ENST00000252771.7_Missense_Mutation_p.G669E	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	669	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)	p.G669E(1)		NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GTGTTCAGCGGGACCCCACCA	0.597																																						uc010ebb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(2005-2007)GGG>GAG		FCH domain only 1 isoform b							144.0	107.0	119.0					19																	17893894		2203	4300	6503	SO:0001583	missense	23149							g.chr19:17893894G>A	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2006G>A	19.37:g.17893894G>A	ENSP00000470731:p.Gly669Glu					FCHO1_uc002nhg.3_Missense_Mutation_p.G669E|FCHO1_uc002nhh.2_Missense_Mutation_p.G669E|FCHO1_uc010xpw.1_Missense_Mutation_p.G619E|FCHO1_uc002nhi.2_Missense_Mutation_p.G125E|FCHO1_uc002nhj.2_Missense_Mutation_p.G13E	p.G669E	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN			23	2195	+			669					A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	ENST00000596536.1	37	c.2006G>A	CCDS32955.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130080	0.37630	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.40756	1.02;1.02;1.02	3.84	2.78	0.32641	Muniscin C-terminal mu homology domain (1);	0.157146	0.42053	D	0.000763	T	0.31071	0.0785	L	0.29908	0.895	0.38939	D	0.958108	B;B	0.21452	0.056;0.046	B;B	0.23419	0.046;0.027	T	0.16660	-1.0395	10	0.51188	T	0.08	-21.3225	11.356	0.49615	0.0:0.1858:0.8142:0.0	.	669;669	O14526;O14526-2	FCHO1_HUMAN;.	E	669	ENSP00000252771:G669E;ENSP00000373785:G669E;ENSP00000437978:G669E	ENSP00000252771:G669E	G	+	2	0	FCHO1	17754894	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.246000	0.58740	0.726000	0.32339	0.305000	0.20034	GGG		PASS	0.597	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122		10	62	10	62	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19625897	19625897	+	5'Flank	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:19625897C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.D114N|NDUFA13_ENST00000252576.5_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.D114N|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000512771.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.D114N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCAAAGAGGTCGCGCGCCTGA	0.657																																						uc002nmr.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(340-342)GAC>AAC		testis-specific serine kinase 6							35.0	38.0	37.0					19																	19625897		2203	4298	6501	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19625897C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19625897C>T	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.D114N	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	573	-			114			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.340G>A	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	9.429	1.085056	0.20390	.	.	ENSG00000178093	ENST00000360913	T	0.64803	-0.12	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.320112	0.21480	U	0.073841	T	0.43322	0.1242	N	0.12471	0.22	0.27073	N	0.963262	B	0.06786	0.001	B	0.04013	0.001	T	0.12293	-1.0553	10	0.15499	T	0.54	.	15.4918	0.75611	0.0:1.0:0.0:0.0	.	114	Q9BXA6	TSSK6_HUMAN	N	114	ENSP00000354168:D114N	ENSP00000354168:D114N	D	-	1	0	TSSK6	19486897	0.834000	0.29399	1.000000	0.80357	0.016000	0.09150	3.384000	0.52478	2.252000	0.74401	0.306000	0.20318	GAC		PASS	0.657	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		38	75	38	75	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19626086	19626086	+	5'Flank	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:19626086C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.D51N|NDUFA13_ENST00000252576.5_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.D51N|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000428459.2_5'Flank|NDUFA13_ENST00000512771.3_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.D51N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TTGACGAAGTCCGGGGGCGCT	0.617																																						uc002nmr.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(151-153)GAC>AAC		testis-specific serine kinase 6							56.0	51.0	53.0					19																	19626086		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19626086C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626086C>T	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.D51N	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	384	-			51			Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.151G>A	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202873	0.79127	.	.	ENSG00000178093	ENST00000360913	T	0.64803	-0.12	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43919	U	0.000519	T	0.59321	0.2185	L	0.37697	1.125	0.38226	D	0.940895	P	0.46020	0.871	P	0.47941	0.562	T	0.63862	-0.6541	10	0.42905	T	0.14	.	13.7493	0.62897	0.0:1.0:0.0:0.0	.	51	Q9BXA6	TSSK6_HUMAN	N	51	ENSP00000354168:D51N	ENSP00000354168:D51N	D	-	1	0	TSSK6	19487086	0.994000	0.37717	0.987000	0.45799	0.978000	0.69477	3.418000	0.52721	2.324000	0.78689	0.306000	0.20318	GAC		PASS	0.617	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		44	52	44	52	---	---	---	---
LPAR2	9170	broad.mit.edu	37	19	19737830	19737830	+	Silent	SNP	G	G	A	rs377707999		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:19737830G>A	ENST00000542587.1	-	5	1166	c.264C>T	c.(262-264)ctC>ctT	p.L88L	LPAR2_ENST00000586703.1_Silent_p.L88L|LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000407877.3_Silent_p.L88L			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	88					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)	p.L88L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGTGGAACATGAGGAAGAGGT	0.647																																						uc002nnb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(262-264)CTC>CTT		lysophosphatidic acid receptor 2		G		0,4404		0,0,2202	39.0	36.0	37.0		264	2.3	1.0	19		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LPAR2	NM_004720.5		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		88/352	19737830	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737830G>A	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.264C>T	19.37:g.19737830G>A						LPAR2_uc002nna.3_Silent_p.L88L|LPAR2_uc002nnc.3_Silent_p.L88L	p.L88L	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN			2	403	-			88			Helical; Name=2; (Potential).		O00543|O43431	Silent	SNP	ENST00000542587.1	37	c.264C>T	CCDS12407.1																																																																																				PASS	0.647	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		15	23	15	23	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34843609	34843609	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:34843609C>T	ENST00000299505.6	+	14	3835	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	AC010504.2_ENST00000591311.1_RNA	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	988								p.P988S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTCCCCGCTTCCCAGCACGCT	0.582																																						uc002nvd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2962-2964)CCC>TCC		hypothetical protein LOC9710							77.0	80.0	79.0					19																	34843609		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34843609C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2962C>T	19.37:g.34843609C>T	ENSP00000299505:p.Pro988Ser						p.P988S	NM_014686	NP_055501	O15063	K0355_HUMAN			14	3821	+	Esophageal squamous(110;0.162)		988					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2962C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278281	0.40294	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.32	3.06	0.35304	.	0.275475	0.32987	N	0.005416	T	0.27169	0.0666	N	0.08118	0	0.33858	D	0.633453	B	0.21606	0.058	B	0.25291	0.059	T	0.34750	-0.9816	9	0.87932	D	0	-33.352	9.0247	0.36222	0.2858:0.6045:0.1097:0.0	.	988	O15063	K0355_HUMAN	S	988	.	ENSP00000299505:P988S	P	+	1	0	KIAA0355	39535449	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	1.243000	0.32767	1.201000	0.43203	0.557000	0.71058	CCC		PASS	0.582	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		31	79	31	79	---	---	---	---
GRAMD1A	57655	broad.mit.edu	37	19	35504575	35504576	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:35504575_35504576AG>GT	ENST00000317991.5	+	9	1042_1043	c.850_851AG>GT	c.(850-852)AGc>GTc	p.S284V	GRAMD1A_ENST00000504615.2_Missense_Mutation_p.S50V|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.S371V|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.S277V	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	284						integral component of membrane (GO:0016021)		p.S284I(1)|p.S284V(1)|p.S284G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCCCGAGCCAGCAGCGACGCA	0.653																																						uc010xse.1																			3	Substitution - Missense(3)		lung(3)		0						c.(850-852)AGC>GGC|c.(850-852)AGC>ATC		GRAM domain containing 1A isoform 1																																				SO:0001583	missense	57655					integral to membrane		g.chr19:35504575A>G|g.chr19:35504576G>T	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		Exception_encountered	19.37:g.35504575_35504576delinsGT	ENSP00000441032:p.Ser284Val					GRAMD1A_uc002nxi.1_Missense_Mutation_p.S371G|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S277G|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S50G|GRAMD1A_uc010xsf.1_Missense_Mutation_p.S289G|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank|GRAMD1A_uc002nxi.1_Missense_Mutation_p.S371I|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S277I|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S50I|GRAMD1A_uc010xsf.1_Missense_Mutation_p.S289I|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_5'Flank	p.S284G|p.S284I	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		9	987|988	+	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		284					A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	ENST00000317991.5	37	c.850A>G|c.851G>T	CCDS42546.1																																																																																				PASS	0.653	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461557.1	NM_020895		7	64	7	64	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41066123	41066123	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:41066123C>T	ENST00000352632.3	+	27	5815	c.5729C>T	c.(5728-5730)gCc>gTc	p.A1910V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1910V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A653V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1910V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1910V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A586V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1910					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1910V(1)|p.A586V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGTGAACATGCCGAGGCCATC	0.687																																						uc002ony.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5728-5730)GCC>GTC		spectrin, beta, non-erythrocytic 4 isoform							57.0	49.0	52.0					19																	41066123		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41066123C>T	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5729C>T	19.37:g.41066123C>T	ENSP00000263373:p.Ala1910Val					SPTBN4_uc002onx.2_Missense_Mutation_p.A1910V|SPTBN4_uc002onz.2_Missense_Mutation_p.A1910V|SPTBN4_uc010egx.2_Missense_Mutation_p.A653V|SPTBN4_uc002ooa.2_Missense_Mutation_p.A586V	p.A1910V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		27	5815	+			1910			Spectrin 16.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5729C>T	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557810	0.86231	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.66	4.66	0.58398	.	0.000000	0.64402	U	0.000010	T	0.71837	0.3387	M	0.84511	2.7	0.44966	D	0.997987	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.992;0.995;0.981;0.986	T	0.77560	-0.2542	10	0.72032	D	0.01	.	16.4676	0.84087	0.0:1.0:0.0:0.0	.	653;586;1910;1910	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	V	1910;1910;1910;653;586	ENSP00000263373:A1910V;ENSP00000340345:A1910V;ENSP00000375879:A653V;ENSP00000375877:A586V	ENSP00000340345:A1910V	A	+	2	0	SPTBN4	45757963	1.000000	0.71417	0.926000	0.36857	0.828000	0.46876	4.722000	0.61958	2.424000	0.82194	0.591000	0.81541	GCC		PASS	0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			24	42	24	42	---	---	---	---
GIPR	2696	broad.mit.edu	37	19	46181223	46181223	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:46181223G>A	ENST00000590918.1	+	11	1083	c.984G>A	c.(982-984)cgG>cgA	p.R328R	GIPR_ENST00000304207.8_Silent_p.R292R|GIPR_ENST00000263281.3_Silent_p.R328R|GIPR_ENST00000593127.1_3'UTR|MIR642A_ENST00000385039.1_RNA	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	328					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.R328R(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGAGGACACGGCAAATGCGCT	0.592																																						uc002pcu.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(982-984)CGG>CGA		gastric inhibitory polypeptide receptor							70.0	65.0	67.0					19																	46181223		2203	4300	6503	SO:0001819	synonymous_variant	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46181223G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.984G>A	19.37:g.46181223G>A						GIPR_uc002pct.1_Silent_p.R328R|GIPR_uc010xxp.1_Silent_p.R292R|GIPR_uc010xxq.1_RNA	p.R328R	NM_000164	NP_000155	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	11	1083	+		Ovarian(192;0.051)|all_neural(266;0.112)	328			Cytoplasmic (Potential).		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	ENST00000590918.1	37	c.984G>A	CCDS12671.1																																																																																				PASS	0.592	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			4	159	4	159	---	---	---	---
ZNF534	147658	broad.mit.edu	37	19	52941042	52941042	+	Missense_Mutation	SNP	G	G	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:52941042G>T	ENST00000332323.6	+	4	429	c.368G>T	c.(367-369)gGa>gTa	p.G123V	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.G110V	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G123V(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AATCAACATGGATTAACTCTT	0.358																																						uc002pzk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)GGA>GTA		zinc finger protein 534 isoform 2							70.0	59.0	62.0					19																	52941042		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941042G>T	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.368G>T	19.37:g.52941042G>T	ENSP00000327538:p.Gly123Val					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.G110V	p.G123V	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	429	+			123					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.368G>T	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362386	0.24684	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.08807	3.05;3.16	1.69	-3.37	0.04898	.	.	.	.	.	T	0.19967	0.0480	M	0.82716	2.605	0.09310	N	1	B;D	0.89917	0.02;1.0	B;D	0.91635	0.015;0.999	T	0.19745	-1.0296	9	0.31617	T	0.26	.	0.3846	0.00400	0.1829:0.1998:0.2793:0.338	.	110;123	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	V	123;110;122	ENSP00000327538:G123V;ENSP00000391358:G110V	ENSP00000327538:G123V	G	+	2	0	ZNF534	57632854	0.000000	0.05858	0.004000	0.12327	0.222000	0.24845	-0.939000	0.03933	-0.429000	0.07329	0.205000	0.17691	GGA		PASS	0.358	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		21	30	21	30	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55107247	55107247	+	Missense_Mutation	SNP	C	C	T	rs530732441		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:55107247C>T	ENST00000251372.3	+	6	987	c.805C>T	c.(805-807)Cct>Tct	p.P269S	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	269	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.P269S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCCAGCTCCCTGGCCCACA	0.607																																						uc002qgh.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(805-807)CCT>TCT		leukocyte immunoglobulin-like receptor,							102.0	100.0	101.0					19																	55107247		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107247C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.805C>T	19.37:g.55107247C>T	ENSP00000251372:p.Pro269Ser					LILRA2_uc010yfg.1_Missense_Mutation_p.P267S|LILRA1_uc010yfh.1_Missense_Mutation_p.P269S	p.P269S	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	987	+			269			Extracellular (Potential).|Ig-like C2-type 3.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.805C>T	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.253805	0.00268	.	.	ENSG00000104974	ENST00000251372	T	0.00705	5.81	2.24	1.15	0.20763	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.598210	0.04064	N	0.306802	T	0.00845	0.0028	N	0.26130	0.795	0.09310	N	1	B	0.22983	0.078	B	0.24974	0.057	T	0.50013	-0.8877	10	0.18276	T	0.48	.	7.2987	0.26408	0.0:0.7221:0.2779:0.0	.	269	O75019	LIRA1_HUMAN	S	269	ENSP00000251372:P269S	ENSP00000251372:P269S	P	+	1	0	LILRA1	59799059	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.867000	0.27968	0.245000	0.21373	-1.052000	0.02337	CCT		PASS	0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		26	134	26	134	---	---	---	---
DUXA	503835	broad.mit.edu	37	19	57672161	57672162	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr19:57672161_57672162CA>AC	ENST00000554048.2	-	2	28_29	c.29_30TG>GT	c.(28-30)aTG>aGT	p.M10S		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M10R(1)|p.M10S(1)|p.M10I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTGTTTTTACCATCTCTGTAGG	0.371																																						uc002qoa.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(28-30)ATG>ATT|c.(28-30)ATG>AGG		double homeobox A																																				SO:0001583	missense	503835					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:57672161C>A|g.chr19:57672162A>C		CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.29_30delinsAC	19.37:g.57672161_57672162delinsAC	ENSP00000452398:p.Met10Ser						p.M10I|p.M10R	NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)	2	75|74	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	10						Missense_Mutation	SNP	ENST00000554048.2	37	c.30G>T|c.29T>G	CCDS33126.1																																																																																				PASS	0.371	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410075.3	NM_001012729		18|17	117|116	17	116	---	---	---	---
CRNKL1	51340	broad.mit.edu	37	20	20018062	20018062	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr20:20018062C>G	ENST00000377340.2	-	14	2315	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	CRNKL1_ENST00000377327.4_Missense_Mutation_p.E750Q|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E601Q	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	762					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E762Q(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AATTCTTCTTCAAAACTTCGC	0.403																																						uc002wrs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2284-2286)GAA>CAA		crooked neck-like 1 protein							226.0	225.0	225.0					20																	20018062		2203	4300	6503	SO:0001583	missense	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20018062C>G	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.2284G>C	20.37:g.20018062C>G	ENSP00000366557:p.Glu762Gln						p.E762Q	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			14	2316	-			762			HAT 15.		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	c.2284G>C	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788096	0.90367	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.69435	-0.4;-0.4;-0.4	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.88370	0.6418	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92211	0.5776	10	0.87932	D	0	-24.8833	18.5163	0.90936	0.0:1.0:0.0:0.0	.	762	Q9BZJ0	CRNL1_HUMAN	Q	750;762;601	ENSP00000366544:E750Q;ENSP00000366557:E762Q;ENSP00000440733:E601Q	ENSP00000366544:E750Q	E	-	1	0	CRNKL1	19966062	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.458000	0.80787	2.596000	0.87737	0.484000	0.47621	GAA		PASS	0.403	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1			149	213	149	213	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33337252	33337253	+	Nonsense_Mutation	DNP	TC	TC	AT			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr20:33337252_33337253TC>AT	ENST00000374796.2	-	10	5315_5316	c.2745_2746GA>AT	c.(2743-2748)aaGAag>aaATag	p.K916*	NCOA6_ENST00000359003.2_Nonsense_Mutation_p.K916*			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	916	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|Poly-Lys.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.K916*(2)|p.K915K(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGTTTCTTCTTCTTCGGTTTAT	0.376																																						uc002xav.2																			3	Substitution - Nonsense(2)|Substitution - coding silent(1)		lung(3)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(2746-2748)AAG>TAG|c.(2743-2745)AAG>AAA		nuclear receptor coactivator 6																																				SO:0001587	stop_gained	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33337252T>A|g.chr20:33337253C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2745_2746delinsAT	20.37:g.33337252_33337253delinsAT	ENSP00000363929:p.Lys916*					NCOA6_uc002xaw.2_Nonsense_Mutation_p.K916*|NCOA6_uc002xaw.2_Silent_p.K915K	p.K916*|p.K915K	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			10	5317|5316	-			916|915			Gln-rich.|NCOA6IP-binding region.|Poly-Lys.|CREBBP-binding region.|TBP/GTF2A-binding region.|NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Nonsense_Mutation|Silent	SNP	ENST00000374796.2	37	c.2746A>T|c.2745G>A	CCDS13241.1																																																																																				PASS	0.376	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		30|31	192|189	30	189	---	---	---	---
CSE1L	1434	broad.mit.edu	37	20	47711383	47711383	+	Silent	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr20:47711383C>T	ENST00000262982.2	+	24	2832	c.2709C>T	c.(2707-2709)ttC>ttT	p.F903F	CSE1L_ENST00000396192.3_Silent_p.F847F|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Silent_p.F686F	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	903					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.F903F(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGACTGCCTTCTCACAGTTGG	0.408																																						uc002xty.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(2707-2709)TTC>TTT		CSE1 chromosome segregation 1-like protein							126.0	119.0	121.0					20																	47711383		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47711383C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2709C>T	20.37:g.47711383C>T						CSE1L_uc010zyg.1_Silent_p.F686F|CSE1L_uc010ghx.2_Silent_p.F847F|CSE1L_uc010ghy.2_Silent_p.F524F|CSE1L_uc010zyh.1_Silent_p.F552F	p.F903F	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		24	2843	+			903					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.2709C>T	CCDS13412.1																																																																																				PASS	0.408	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		48	73	48	73	---	---	---	---
USP25	29761	broad.mit.edu	37	21	17138410	17138410	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr21:17138410C>A	ENST00000285679.6	+	3	587	c.218C>A	c.(217-219)gCa>gAa	p.A73E	USP25_ENST00000285681.2_Missense_Mutation_p.A73E|USP25_ENST00000351097.5_Missense_Mutation_p.A73E|USP25_ENST00000400183.2_Missense_Mutation_p.A73E	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	73					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.A73E(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACCAAACAGCACTTCCTGGC	0.383																																						uc002yjy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(2)	5						c.(217-219)GCA>GAA		ubiquitin specific peptidase 25							114.0	104.0	107.0					21																	17138410		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17138410C>A	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.218C>A	21.37:g.17138410C>A	ENSP00000285679:p.Ala73Glu					USP25_uc011aby.1_Missense_Mutation_p.A73E|USP25_uc002yjz.1_Missense_Mutation_p.A73E|USP25_uc010gla.1_Missense_Mutation_p.A73E	p.A73E	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	3	435	+			73					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.218C>A	CCDS33515.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638147	0.67130	.	.	ENSG00000155313	ENST00000285681;ENST00000285679;ENST00000351097;ENST00000400183	T;T;T;T	0.34859	1.81;1.77;1.34;1.79	5.42	5.42	0.78866	UBA-like (1);	0.051827	0.85682	D	0.000000	T	0.34395	0.0896	M	0.63843	1.955	0.58432	D	0.999999	B;P;P;P	0.41848	0.013;0.608;0.763;0.608	B;B;B;B	0.37144	0.036;0.14;0.242;0.14	T	0.30621	-0.9972	10	0.06099	T	0.92	.	19.2158	0.93778	0.0:1.0:0.0:0.0	.	73;73;73;73	Q9UHP3-3;Q96B65;Q9UHP3-1;Q9UHP3	.;.;.;UBP25_HUMAN	E	73	ENSP00000285681:A73E;ENSP00000285679:A73E;ENSP00000299574:A73E;ENSP00000383044:A73E	ENSP00000285679:A73E	A	+	2	0	USP25	16060281	1.000000	0.71417	0.966000	0.40874	0.976000	0.68499	7.487000	0.81328	2.552000	0.86080	0.561000	0.74099	GCA		PASS	0.383	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			6	84	6	84	---	---	---	---
CHODL	140578	broad.mit.edu	37	21	19629100	19629100	+	Silent	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr21:19629100C>A	ENST00000299295.2	+	2	745	c.354C>A	c.(352-354)ctC>ctA	p.L118L	CHODL_ENST00000400131.1_Silent_p.L77L|CHODL_ENST00000543733.1_Silent_p.L99L|CHODL_ENST00000338326.3_Silent_p.L77L|CHODL_ENST00000400135.1_Silent_p.L77L|CHODL_ENST00000400128.1_Silent_p.L77L|CHODL_ENST00000400127.1_Silent_p.L77L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	118	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)	p.L77L(1)|p.L118L(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GCCCAGATCTCTACCAGTGGT	0.512																																						uc002ykv.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(352-354)CTC>CTA		chondrolectin precursor							91.0	94.0	93.0					21																	19629100		2203	4300	6503	SO:0001819	synonymous_variant	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19629100C>A	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.354C>A	21.37:g.19629100C>A						CHODL_uc002ykr.2_Silent_p.L77L|CHODL_uc002yks.2_Silent_p.L77L|CHODL_uc002ykt.2_Silent_p.L77L|CHODL_uc002yku.2_Silent_p.L77L	p.L118L	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	2	745	+		all_epithelial(11;0.21)	118			Extracellular (Potential).|C-type lectin.		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Silent	SNP	ENST00000299295.2	37	c.354C>A	CCDS13570.1																																																																																				PASS	0.512	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944		49	84	49	84	---	---	---	---
DSCR4	10281	broad.mit.edu	37	21	39493330	39493330	+	Missense_Mutation	SNP	G	G	A	rs148504310		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr21:39493330G>A	ENST00000328264.3	-	1	124	c.20C>T	c.(19-21)aCg>aTg	p.T7M	DSCR8_ENST00000357704.4_5'Flank|DSCR8_ENST00000400477.3_5'Flank|DSCR4_ENST00000398948.1_Missense_Mutation_p.T7M	NM_005867.2	NP_005858.1	P56555	DSCR4_HUMAN	Down syndrome critical region gene 4	7								p.T7M(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	6						atcatctctcgtcaagatgat	0.493																																						uc002ywp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)ACG>ATG		Down syndrome critical region protein 4		G		1,4405	2.1+/-5.4	0,1,2202	111.0	98.0	102.0			0.2	0.0	21	dbSNP_134	102	0,8600		0,0,4300	no	intergenic				0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			39493330	1,13005	2203	4300	6503	SO:0001583	missense	10281							g.chr21:39493330G>A	AB000099	CCDS33554.1	21q22.2	2012-04-19			ENSG00000184029	ENSG00000184029			3045	protein-coding gene	gene with protein product		604829				9455479	Standard	NM_005867		Approved	DCRB	uc002ywp.3	P56555	OTTHUMG00000086673	ENST00000328264.3:c.20C>T	21.37:g.39493330G>A	ENSP00000328676:p.Thr7Met					DSCR8_uc002ywt.3_5'Flank|DSCR8_uc010gnp.2_5'Flank|DSCR8_uc010gnq.2_5'Flank|DSCR8_uc010gnr.2_5'Flank|DSCR8_uc010gns.2_5'Flank	p.T7M	NM_005867	NP_005858	P56555	DSCR4_HUMAN			1	125	-			7					Q4VB31	Missense_Mutation	SNP	ENST00000328264.3	37	c.20C>T	CCDS33554.1	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286144	0.10513	2.27E-4	0.0	ENSG00000184029	ENST00000398948;ENST00000328264	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	T	0.56277	0.1974	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.42965	-0.9420	6	0.87932	D	0	.	.	.	.	.	7	P56555	DSCR4_HUMAN	M	7	.	ENSP00000328676:T7M	T	-	2	0	DSCR4	38415200	0.009000	0.17119	0.017000	0.16124	0.017000	0.09413	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	ACG		PASS	0.493	DSCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000194834.1	NM_005867		18	23	18	23	---	---	---	---
SNRPD3	6634	broad.mit.edu	37	22	24953658	24953658	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:24953658C>T	ENST00000215829.3	+	2	603	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	GUCD1_ENST00000404664.3_5'Flank|GUCD1_ENST00000435822.1_5'Flank|GUCD1_ENST00000407471.3_5'Flank|GUCD1_ENST00000447813.2_5'Flank|SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S|GUCD1_ENST00000402766.1_5'Flank	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	6					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	enzyme binding (GO:0019899)|histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.P6S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TATTGGTGTGCCGATTAAAGT	0.478																																						uc003aam.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)CCG>TCG		small nuclear ribonucleoprotein polypeptide D3							203.0	172.0	182.0					22																	24953658		2203	4300	6503	SO:0001583	missense	6634				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	g.chr22:24953658C>T	U15009	CCDS13828.1	22q11.23	2011-10-11	2002-08-29		ENSG00000100028	ENSG00000100028			11160	protein-coding gene	gene with protein product		601062	"""small nuclear ribonucleoprotein D3 polypeptide (18kD)"""			1701240, 7527560	Standard	NM_004175		Approved	SMD3, Sm-D3	uc003aam.1	P62318	OTTHUMG00000150727	ENST00000215829.3:c.16C>T	22.37:g.24953658C>T	ENSP00000215829:p.Pro6Ser					C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Missense_Mutation_p.P6S	p.P6S	NM_004175	NP_004166	P62318	SMD3_HUMAN			2	456	+			6					B4DJP7|B5BU13|P43331	Missense_Mutation	SNP	ENST00000215829.3	37	c.16C>T	CCDS13828.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356783	0.95854	.	.	ENSG00000100028	ENST00000215829;ENST00000402849	T;T	0.36157	1.27;1.27	5.72	5.72	0.89469	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81364	-0.0966	10	0.87932	D	0	.	18.8534	0.92241	0.0:1.0:0.0:0.0	.	6;6	B4DJP7;P62318	.;SMD3_HUMAN	S	6	ENSP00000215829:P6S;ENSP00000385266:P6S	ENSP00000385994:P6S	P	+	1	0	SNRPD3	23283658	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.017000	0.76399	2.695000	0.91970	0.655000	0.94253	CCG		PASS	0.478	SNRPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319813.1	NM_004175		4	174	4	174	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28196346	28196346	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:28196346G>A	ENST00000302326.4	-	1	1140	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	62					intramembranous ossification (GO:0001957)			p.G62G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CCATGTTCATGCCCAAGATCG	0.672			T	ETV6	"""AML, meningioma"""																																	uc003adj.2				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		AML|meningioma		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						c.(184-186)GGC>GGT		meningioma  1							42.0	47.0	45.0					22																	28196346		1938	4114	6052	SO:0001819	synonymous_variant	4330						binding	g.chr22:28196346G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.186C>T	22.37:g.28196346G>A							p.G62G	NM_002430	NP_002421	Q10571	MN1_HUMAN			1	1141	-			62					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.186C>T	CCDS42998.1																																																																																				PASS	0.672	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		64	58	64	58	---	---	---	---
C22orf31	25770	broad.mit.edu	37	22	29456416	29456416	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:29456416C>A	ENST00000216071.4	-	2	470	c.419G>T	c.(418-420)gGa>gTa	p.G140V		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	140								p.G140V(1)		cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						TCTGATGCCTCCTGCAGGCCT	0.522																																						uc003aej.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)GGA>GTA		hypothetical protein LOC25770							117.0	107.0	110.0					22																	29456416		2203	4300	6503	SO:0001583	missense	25770							g.chr22:29456416C>A	AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.419G>T	22.37:g.29456416C>A	ENSP00000216071:p.Gly140Val						p.G140V	NM_015370	NP_056185	O95567	CV031_HUMAN			2	546	-			140					A0AV97	Missense_Mutation	SNP	ENST00000216071.4	37	c.419G>T	CCDS13848.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846353	0.71603	.	.	ENSG00000100249	ENST00000216071	T	0.53857	0.6	4.77	3.75	0.43078	.	0.421525	0.20510	N	0.090920	T	0.56514	0.1990	L	0.27053	0.805	0.49582	D	0.999805	D	0.76494	0.999	D	0.76071	0.987	T	0.58335	-0.7654	10	0.87932	D	0	-7.8677	8.6956	0.34293	0.0:0.8964:0.0:0.1036	.	140	O95567	CV031_HUMAN	V	140	ENSP00000216071:G140V	ENSP00000216071:G140V	G	-	2	0	C22orf31	27786416	0.146000	0.22672	0.791000	0.31998	0.496000	0.33645	1.132000	0.31418	1.230000	0.43646	0.591000	0.81541	GGA		PASS	0.522	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320952.1	NM_015370		44	212	44	212	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416154	30416154	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:30416154G>A	ENST00000401950.2	+	17	2848	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E836K|MTMR3_ENST00000333027.3_Missense_Mutation_p.E836K|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.E836K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E700K	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	836					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.E836K(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGTCCCTTTTGAGACCAGAGG	0.478																																						uc003agv.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2506-2508)GAG>AAG		myotubularin-related protein 3 isoform c							110.0	100.0	103.0					22																	30416154		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416154G>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2506G>A	22.37:g.30416154G>A	ENSP00000384651:p.Glu836Lys					MTMR3_uc003agu.3_Missense_Mutation_p.E836K|MTMR3_uc003agw.3_Missense_Mutation_p.E836K	p.E836K	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2834	+			836					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.2506G>A	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144042	0.37825	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.94092	-3.14;-3.12;-3.35;-3.17;-3.12	5.4	5.4	0.78164	.	1.475640	0.03751	N	0.256639	D	0.91047	0.7183	N	0.24115	0.695	0.22629	N	0.998911	P;P;P	0.41848	0.763;0.651;0.763	B;B;B	0.41510	0.359;0.197;0.359	T	0.82356	-0.0498	10	0.56958	D	0.05	.	14.186	0.65605	0.0:0.1495:0.8505:0.0	.	836;836;836	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	K	836;836;700;836;836	ENSP00000384651:E836K;ENSP00000331649:E836K;ENSP00000318070:E700K;ENSP00000307271:E836K;ENSP00000384077:E836K	ENSP00000318070:E700K	E	+	1	0	MTMR3	28746154	0.991000	0.36638	0.991000	0.47740	0.987000	0.75469	4.679000	0.61649	2.688000	0.91661	0.655000	0.94253	GAG		PASS	0.478	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		62	75	62	75	---	---	---	---
SYN3	8224	broad.mit.edu	37	22	32914270	32914270	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:32914270G>A	ENST00000358763.2	-	13	1612	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.S457F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	457	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)	p.S457F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCTGTTGGGAGGGGCTTCC	0.577																																						uc003amx.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1369-1371)TCC>TTC		synapsin III isoform IIIa							52.0	63.0	59.0					22																	32914270		2203	4300	6503	SO:0001583	missense	8224				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	g.chr22:32914270G>A	AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1370C>T	22.37:g.32914270G>A	ENSP00000351614:p.Ser457Phe					SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Missense_Mutation_p.S456F|SYN3_uc011amc.1_Missense_Mutation_p.S91F	p.S457F	NM_003490	NP_003481	O14994	SYN3_HUMAN			12	1529	-			457			J; Pro-rich linker.		B1B1F9	Missense_Mutation	SNP	ENST00000358763.2	37	c.1370C>T	CCDS13908.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800700	0.70567	.	.	ENSG00000185666	ENST00000358763;ENST00000332840	T;T	0.34275	1.37;1.37	5.86	5.86	0.93980	.	0.529686	0.20114	N	0.098944	T	0.39886	0.1095	L	0.40543	1.245	0.47065	D	0.999304	P;P	0.49447	0.924;0.924	P;P	0.44732	0.459;0.459	T	0.20042	-1.0287	10	0.56958	D	0.05	-7.9984	20.1772	0.98182	0.0:0.0:1.0:0.0	.	456;457	Q17R54;O14994	.;SYN3_HUMAN	F	457	ENSP00000351614:S457F;ENSP00000330219:S457F	ENSP00000330219:S457F	S	-	2	0	SYN3	31244270	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.669000	0.61575	2.778000	0.95560	0.655000	0.94253	TCC		PASS	0.577	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075892.4			70	81	70	81	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38153942	38153942	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:38153942G>A	ENST00000406386.3	+	16	6265	c.6010G>A	c.(6010-6012)Gag>Aag	p.E2004K	TRIOBP_ENST00000407319.2_Missense_Mutation_p.E291K|TRIOBP_ENST00000403663.2_Missense_Mutation_p.E291K	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2004					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.E2004K(1)|p.E291K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTGCTGGTGAGGGGCCGCG	0.672																																						uc003atr.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(6010-6012)GAG>AAG		TRIO and F-actin binding protein isoform 6							9.0	11.0	10.0					22																	38153942		2093	4093	6186	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38153942G>A	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6010G>A	22.37:g.38153942G>A	ENSP00000384312:p.Glu2004Lys					TRIOBP_uc003atu.2_Missense_Mutation_p.E1832K|TRIOBP_uc003atv.2_Missense_Mutation_p.E291K|TRIOBP_uc003atw.2_Missense_Mutation_p.E291K|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.2_5'UTR	p.E2004K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			16	6281	+	Melanoma(58;0.0574)		2004					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.6010G>A	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241890	0.39598	.	.	ENSG00000100106	ENST00000406386;ENST00000407319;ENST00000403663;ENST00000418339;ENST00000417857	T	0.21932	1.98	5.41	5.41	0.78517	.	.	.	.	.	T	0.17066	0.0410	L	0.38838	1.175	0.30887	N	0.730724	B;B;B	0.33583	0.288;0.304;0.418	B;B;B	0.32928	0.155;0.106;0.068	T	0.07271	-1.0781	9	0.20519	T	0.43	.	12.0859	0.53698	0.1246:0.0:0.8754:0.0	.	291;291;2004	F8W6V6;F2Z2W0;Q9H2D6	.;.;TARA_HUMAN	K	2004;291;291;250;220	ENSP00000384312:E2004K	ENSP00000386026:E291K	E	+	1	0	TRIOBP	36483888	0.620000	0.27068	0.227000	0.23927	0.788000	0.44548	1.675000	0.37555	2.527000	0.85204	0.561000	0.74099	GAG		PASS	0.672	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	7	6	7	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42289166	42289166	+	Missense_Mutation	SNP	A	A	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:42289166A>T	ENST00000361204.4	+	12	2420	c.2254A>T	c.(2254-2256)Agt>Tgt	p.S752C	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	752					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S752C(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCCGAGCACAGTGCTGTTCC	0.607																																						uc003bbi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2254-2256)AGT>TGT		sterol regulatory element-binding transcription							77.0	77.0	77.0					22																	42289166		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42289166A>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2254A>T	22.37:g.42289166A>T	ENSP00000354476:p.Ser752Cys					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	p.S752C	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			12	2423	+			752			Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.2254A>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491905	0.26774	.	.	ENSG00000198911	ENST00000361204;ENST00000457567	T	0.08720	3.06	5.42	4.32	0.51571	.	0.384387	0.34828	N	0.003648	T	0.04679	0.0127	N	0.14661	0.345	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.29640	-1.0005	10	0.39692	T	0.17	-4.093	5.9694	0.19342	0.7778:0.0:0.076:0.1462	.	752	Q12772	SRBP2_HUMAN	C	752	ENSP00000354476:S752C	ENSP00000354476:S752C	S	+	1	0	SREBF2	40619112	0.513000	0.26194	0.041000	0.18516	0.465000	0.32709	3.986000	0.56937	2.058000	0.61347	0.528000	0.53228	AGT		PASS	0.607	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		6	143	6	143	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46654628	46654628	+	Missense_Mutation	SNP	G	G	A	rs143126011	byFrequency	TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:46654628G>A	ENST00000253255.5	-	1	4591	c.4592C>T	c.(4591-4593)cCg>cTg	p.P1531L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1531					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.P1531Q(1)|p.P1531L(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAGGGTCTCCGGGGTCTTGAT	0.488													G|||	20	0.00399361	0.0144	0.0	5008	,	,		18592	0.0		0.0	False		,,,				2504	0.001					uc003bhh.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	breast(3)|ovary(2)	5						c.(4591-4593)CCG>CTG		receptor for egg jelly-like protein precursor		G	LEU/PRO	30,4376	36.0+/-67.5	0,30,2173	264.0	266.0	265.0		4592	1.9	0.0	22	dbSNP_134	265	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PKDREJ	NM_006071.1	98	0,35,6468	AA,AG,GG		0.0581,0.6809,0.2691	possibly-damaging	1531/2254	46654628	35,12971	2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46654628G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.4592C>T	22.37:g.46654628G>A	ENSP00000253255:p.Pro1531Leu						p.P1531L	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	4592	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1531			Cytoplasmic (Potential).		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.4592C>T	CCDS14073.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.234	1.036614	0.19669	0.006809	5.81E-4	ENSG00000130943	ENST00000253255	T	0.35789	1.29	4.06	1.91	0.25777	.	1824.730000	0.00166	N	0.000016	T	0.21307	0.0513	L	0.46157	1.445	0.09310	N	1	P	0.38745	0.645	B	0.25140	0.058	T	0.23691	-1.0181	10	0.49607	T	0.09	0.2214	5.4228	0.16409	0.1126:0.2065:0.6809:0.0	.	1531	Q9NTG1	PKDRE_HUMAN	L	1531	ENSP00000253255:P1531L	ENSP00000253255:P1531L	P	-	2	0	PKDREJ	45033292	0.001000	0.12720	0.013000	0.15412	0.022000	0.10575	0.385000	0.20685	0.472000	0.27344	-0.494000	0.04653	CCG		PASS	0.488	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		5	446	5	446	---	---	---	---
SBF1	6305	broad.mit.edu	37	22	50897936	50897936	+	Silent	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr22:50897936G>A	ENST00000390679.3	-	27	3835	c.3651C>T	c.(3649-3651)gtC>gtT	p.V1217V	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000380817.3_Silent_p.V1217V|SBF1_ENST00000348911.6_Silent_p.V1218V			O95248	MTMR5_HUMAN	SET binding factor 1	1217	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V1217V(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGAGGCCGACGACACCTTTGC	0.682																																						uc003blh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3649-3651)GTC>GTT		SET binding factor 1							25.0	28.0	27.0					22																	50897936		2166	4255	6421	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50897936G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3651C>T	22.37:g.50897936G>A						SBF1_uc011arx.1_Silent_p.V881V	p.V1217V	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	27	3846	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1217			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.3651C>T																																																																																					PASS	0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				22	28	22	28	---	---	---	---
AMELX	265	broad.mit.edu	37	X	11316382	11316382	+	Missense_Mutation	SNP	G	G	C	rs431825176		TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chrX:11316382G>C	ENST00000380714.3	+	4	197	c.129G>C	c.(127-129)caG>caC	p.Q43H	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.Q27H|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380712.3_Missense_Mutation_p.Q57H	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	43					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)	p.Q57H(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						AGTGGTACCAGAGCATAAGGC	0.348																																						uc004cut.2																			1	Substitution - Missense(1)		lung(1)		0						c.(127-129)CAG>CAC		amelogenin (X chromosome) isoform 1 precursor							197.0	199.0	199.0					X																	11316382		2203	4300	6503	SO:0001583	missense	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11316382G>C		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.129G>C	X.37:g.11316382G>C	ENSP00000370090:p.Gln43His					ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.Q57H|AMELX_uc004cuu.2_Missense_Mutation_p.Q27H	p.Q43H	NM_001142	NP_001133	Q99217	AMELX_HUMAN			4	197	+			43					Q96NW6|Q9UCA7	Missense_Mutation	SNP	ENST00000380714.3	37	c.129G>C	CCDS14144.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.522652	0.44866	.	.	ENSG00000125363	ENST00000380714;ENST00000380712;ENST00000348912	D;D;D	0.91686	-2.89;-2.89;-2.89	5.62	2.52	0.30459	.	0.000000	0.50627	D	0.000115	D	0.95348	0.8490	M	0.85710	2.77	0.32417	N	0.549827	D;D;D	0.76494	0.983;0.986;0.999	P;P;D	0.91635	0.847;0.905;0.999	D	0.94305	0.7540	10	0.51188	T	0.08	-1.1648	9.1338	0.36861	0.3309:0.0:0.6691:0.0	.	27;43;57	Q99217-2;Q99217;Q99217-3	.;AMELX_HUMAN;.	H	43;57;27	ENSP00000370090:Q43H;ENSP00000370088:Q57H;ENSP00000335312:Q27H	ENSP00000335312:Q27H	Q	+	3	2	AMELX	11226303	1.000000	0.71417	0.987000	0.45799	0.956000	0.61745	1.852000	0.39348	0.562000	0.29204	-0.315000	0.08773	CAG		PASS	0.348	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		159	26	159	26	---	---	---	---
MAP7D2	256714	broad.mit.edu	37	X	20030525	20030525	+	Missense_Mutation	SNP	C	C	T			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chrX:20030525C>T	ENST00000379651.3	-	14	1909	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	MAP7D2_ENST00000379643.5_Missense_Mutation_p.D672N|MAP7D2_ENST00000543767.1_Missense_Mutation_p.D516N|MAP7D2_ENST00000452324.3_Missense_Mutation_p.D579N|MAP7D2_ENST00000443379.3_Missense_Mutation_p.D586N	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	631					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.D672N(1)|p.D631N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GATTTCCCATCAAGGGCATCC	0.433																																						uc004czr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1891-1893)GAT>AAT		MAP7 domain containing 2							151.0	142.0	145.0					X																	20030525		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20030525C>T	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1891G>A	X.37:g.20030525C>T	ENSP00000368972:p.Asp631Asn					MAP7D2_uc004czq.1_Missense_Mutation_p.D516N|MAP7D2_uc011mji.1_Missense_Mutation_p.D579N|MAP7D2_uc010nfo.1_Missense_Mutation_p.D672N|MAP7D2_uc011mjj.1_Missense_Mutation_p.D586N	p.D631N	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			14	1910	-			631					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1891G>A	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325553	0.81580	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31	5.54	4.65	0.58169	.	0.070419	0.64402	D	0.000019	D	0.91540	0.7328	L	0.59436	1.845	0.43512	D	0.995773	P;P;P;D;D	0.69078	0.916;0.95;0.95;0.995;0.997	B;P;P;P;D	0.69142	0.431;0.634;0.706;0.852;0.962	D	0.91620	0.5310	10	0.56958	D	0.05	-20.4014	15.3869	0.74708	0.0:0.8639:0.1361:0.0	.	586;579;672;631;516	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	N	631;672;516;586;314;579	ENSP00000368972:D631N;ENSP00000368964:D672N;ENSP00000440691:D516N;ENSP00000388239:D586N;ENSP00000413301:D579N	ENSP00000368964:D672N	D	-	1	0	MAP7D2	19940446	0.995000	0.38212	0.873000	0.34254	0.942000	0.58702	2.408000	0.44574	1.071000	0.40834	0.525000	0.51046	GAT		PASS	0.433	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		123	18	123	18	---	---	---	---
SSX6	280657	broad.mit.edu	37	X	47978943	47978943	+	RNA	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chrX:47978943C>A	ENST00000509958.1	+	0	92							Q7RTT6	SSX6_HUMAN	synovial sarcoma, X breakpoint 6 (pseudogene)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.T165N(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CATGCCTGGACCCACAGACTG	0.498																																						uc004dix.1																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)ACC>AAC		SubName: Full=Putative uncharacterized protein SSX1;							216.0	210.0	212.0					X																	47978943		2198	4289	6487			280657							g.chrX:47978943C>A	BK000686		Xp11.23	2009-09-11	2009-08-26		ENSG00000171483	ENSG00000171483			19652	pseudogene	pseudogene		300541	"""SSX family pseudogene 2"", ""synovial sarcoma, X breakpoint 6"""	SSXP2		12216073	Standard	NR_028366		Approved	psiSSX2	uc011mlv.2	Q7RTT6	OTTHUMG00000021464		X.37:g.47978943C>A							p.T165N	NM_173357	NP_775493					7	616	+									Missense_Mutation	SNP	ENST00000509958.1	37	c.494C>A		.	.	.	.	.	.	.	.	.	.	.	11.52	1.664067	0.29604	.	.	ENSG00000171483	ENST00000376932;ENST00000319275	T;T	0.48836	3.08;0.8	1.81	-2.14	0.07123	SSXRD motif (1);	0.882063	0.09702	N	0.766897	T	0.58736	0.2143	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	T	0.50898	-0.8773	9	0.87932	D	0	.	3.8638	0.09007	0.4115:0.2741:0.3144:0.0	.	165	Q7RTT6	SSX6_HUMAN	N	165;67	ENSP00000366131:T165N;ENSP00000325176:T67N	ENSP00000325176:T67N	T	+	2	0	SSX6	47863887	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-0.866000	0.04245	-0.822000	0.04306	0.279000	0.19357	ACC		PASS	0.498	SSX6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362117.1	NR_028366		185	38	185	38	---	---	---	---
MAGT1	84061	broad.mit.edu	37	X	77112282	77112282	+	Missense_Mutation	SNP	C	C	G			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chrX:77112282C>G	ENST00000358075.6	-	5	802	c.716G>C	c.(715-717)aGa>aCa	p.R239T		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	207					cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.R207I(1)|p.R207T(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CATATTACTTCTTCGAAGATA	0.353																																						uc004fof.2																			2	Substitution - Missense(2)		cervix(1)|lung(1)	upper_aerodigestive_tract(1)	1						c.(715-717)AGA>ACA		magnesium transporter 1							70.0	70.0	70.0					X																	77112282		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77112282C>G		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000358075.6:c.716G>C	X.37:g.77112282C>G	ENSP00000354649:p.Arg239Thr					MAGT1_uc004fog.3_Intron	p.R239T	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			5	778	-			207					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000358075.6	37	c.716G>C	CCDS14436.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.602743	0.87157	.	.	ENSG00000102158	ENST00000358075;ENST00000453109	T	0.81163	-1.46	4.42	4.42	0.53409	.	0.052829	0.64402	U	0.000001	D	0.88175	0.6366	M	0.85462	2.755	0.80722	D	1	P	0.37663	0.604	P	0.50570	0.644	D	0.89518	0.3776	10	0.54805	T	0.06	-10.7383	15.9804	0.80105	0.0:1.0:0.0:0.0	.	207	Q9H0U3	MAGT1_HUMAN	T	239;90	ENSP00000354649:R239T	ENSP00000354649:R239T	R	-	2	0	MAGT1	76998938	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.358000	0.79466	1.772000	0.52199	0.600000	0.82982	AGA		PASS	0.353	MAGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057301.2	NM_032121		74	16	74	16	---	---	---	---
CT55	54967	broad.mit.edu	37	X	134303630	134303630	+	Missense_Mutation	SNP	G	G	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chrX:134303630G>A	ENST00000276241.6	-	2	393	c.167C>T	c.(166-168)tCg>tTg	p.S56L	CXorf48_ENST00000344129.2_Missense_Mutation_p.S56L	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		56								p.S56L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GAAGTAGATCGACTCATCAAT	0.408																																						uc004eyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(166-168)TCG>TTG		hypothetical protein LOC54967 isoform 1							132.0	94.0	107.0					X																	134303630		2203	4300	6503	SO:0001583	missense	54967							g.chrX:134303630G>A																												ENST00000276241.6:c.167C>T	X.37:g.134303630G>A	ENSP00000276241:p.Ser56Leu					CXorf48_uc004eyl.1_Missense_Mutation_p.S56L	p.S56L	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN			2	823	-	Acute lymphoblastic leukemia(192;0.000127)		56					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.167C>T	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.950432	0.00475	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.31510	1.49;1.49	2.28	-0.0511	0.13827	Nucleic acid-binding, OB-fold-like (1);	0.975186	0.08293	N	0.968043	T	0.06826	0.0174	N	0.01352	-0.895	0.09310	N	1	B	0.29671	0.254	B	0.21360	0.034	T	0.23726	-1.0180	10	0.02654	T	1	0.6751	2.1718	0.03851	0.4695:0.0:0.2833:0.2472	.	56	Q8WUE5	CX048_HUMAN	L	56	ENSP00000276241:S56L;ENSP00000343893:S56L	ENSP00000276241:S56L	S	-	2	0	CXorf48	134131296	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.004000	0.13106	-0.099000	0.12263	0.459000	0.35465	TCG		PASS	0.408	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			20	5	20	5	---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900253	151900253	+	Missense_Mutation	SNP	C	C	A			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chrX:151900253C>A	ENST00000357916.4	-	2	703	c.548G>T	c.(547-549)gGc>gTc	p.G183V	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.G183V|MAGEA12_ENST00000393900.3_Missense_Mutation_p.G183V|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	183	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.G183V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTAGGAGAGGCCCAGGCAGGT	0.572																																						uc010ntp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)GGC>GTC		melanoma antigen family A, 12							144.0	137.0	140.0					X																	151900253		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900253C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.548G>T	X.37:g.151900253C>A	ENSP00000350592:p.Gly183Val					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.G183V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.G183V	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	902	-	Acute lymphoblastic leukemia(192;6.56e-05)		183			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.548G>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422728	0.25639	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05025	3.51;3.51;3.51	0.809	-0.36	0.12568	.	0.163829	0.52532	D	0.000066	T	0.22781	0.0550	M	0.88377	2.95	0.09310	N	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.02901	-1.1096	9	0.66056	D	0.02	.	.	.	.	.	183	P43365	MAGAC_HUMAN	V	183	ENSP00000350592:G183V;ENSP00000377447:G183V;ENSP00000377478:G183V	ENSP00000350592:G183V	G	-	2	0	MAGEA12	151650909	0.002000	0.14202	0.000000	0.03702	0.136000	0.21042	-0.180000	0.09754	-0.201000	0.10284	0.181000	0.17075	GGC		PASS	0.572	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		12	248	12	248	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53793512	53793514	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr1:53793512_53793514delGCA	ENST00000306052.6	-	1	172_174	c.71_73delTGC	c.(70-75)ctgcag>cag	p.L24del	LRP8_ENST00000354412.3_In_Frame_Del_p.L24del|RP4-784A16.5_ENST00000445039.2_lincRNA|LRP8_ENST00000465675.1_5'Flank|LRP8_ENST00000371454.2_In_Frame_Del_p.L24del|LRP8_ENST00000347547.2_In_Frame_Del_p.L24del	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	24					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGCTGGagctgcagcagcagcag	0.744																																						uc001cvi.1																			0					0						c.(70-75)CTGCAG>CAG		low density lipoprotein receptor-related protein			,,,	31,8,663		10,0,11,4,0,326					,,,	-3.8	0.0			2	98,20,1644		37,0,24,9,2,809	no	codingComplex,codingComplex,codingComplex,codingComplex	LRP8	NM_033300.3,NM_017522.4,NM_004631.4,NM_001018054.2	,,,	47,0,35,13,2,1135	A1A1,A1A2,A1R,A2A2,A2R,RR		6.6969,5.5556,6.3718	,,,	,,,		129,28,2307				SO:0001651	inframe_deletion	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53793512_53793514delGCA	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.71_73delTGC	1.37:g.53793521_53793523delGCA	ENSP00000303634:p.Leu24del					LRP8_uc001cvh.1_5'Flank|LRP8_uc001cvk.1_In_Frame_Del_p.L24del|LRP8_uc001cvj.1_In_Frame_Del_p.L24del|LRP8_uc001cvl.1_In_Frame_Del_p.L24del|uc001cvn.1_5'Flank	p.L24del	NM_004631	NP_004622	Q14114	LRP8_HUMAN			1	213_215	-			24					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	In_Frame_Del	DEL	ENST00000306052.6	37	c.71_73delTGC	CCDS578.1																																																																																					0.744	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		4	2	4	2	---	---	---	---
CAPG	822	broad.mit.edu	37	2	85626370	85626374	+	Frame_Shift_Del	DEL	CAGGA	CAGGA	-			TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr2:85626370_85626374delCAGGA	ENST00000409921.1	-	6	617_621	c.551_555delTCCTG	c.(550-555)atcctgfs	p.IL184fs	CAPG_ENST00000409724.1_Frame_Shift_Del_p.IL184fs|CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Frame_Shift_Del_p.IL184fs|CAPG_ENST00000409670.1_Frame_Shift_Del_p.IL184fs			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TGTTGCGTTCCAGGATGTTGGACTT	0.605																																						uc002spl.1																			0					0						c.(550-555)ATCCTGfs		gelsolin-like capping protein																																				SO:0001589	frameshift_variant	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85626370_85626374delCAGGA	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.551_555delTCCTG	2.37:g.85626370_85626374delCAGGA	ENSP00000387063:p.Ile184fs					CAPG_uc002spm.1_Frame_Shift_Del_p.I184fs|CAPG_uc010ysq.1_Frame_Shift_Del_p.I184fs|CAPG_uc010fgi.1_Frame_Shift_Del_p.I184fs|CAPG_uc010fgj.1_Frame_Shift_Del_p.I78fs	p.I184fs	NM_001747	NP_001738	P40121	CAPG_HUMAN			6	801_805	-			184_185			Gelsolin-like 2.		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Del	DEL	ENST00000409921.1	37	c.551_555delTCCTG	CCDS58715.1																																																																																					0.605	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		29	16	29	16	---	---	---	---
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs10569304	byFrequency	TCGA-18-5595-01A-01D-1632-08	TCGA-18-5595-11A-01D-1632-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	973b8ed8-2295-4fb0-b857-f4433dfc785a	f39ed42b-4da7-4412-b75d-37c859470931	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768														2057	0.410743	0.7292	0.219	5008	,	,		12737	0.501		0.2545	False		,,,				2504	0.184					uc001yrp.1																			0					0						c.(877-882)GTGCCG>GTG		hole protein				304,182		142,20,81						1.9	1.0		dbSNP_119	2	455,1007		182,91,458	no	coding	TMEM121	NM_025268.2		324,111,539	A1A1,A1R,RR		31.1218,37.4486,38.963				759,1189				SO:0001651	inframe_deletion	80757					integral to membrane		g.chr14:105996050_105996052delGCC		CCDS10006.1	14q32.33	2006-02-16			ENSG00000184986	ENSG00000184986			20511	protein-coding gene	gene with protein product						12204283	Standard	NM_025268		Approved	MGC4659, hole	uc001yrp.1	Q9BTD3	OTTHUMG00000029912	ENST00000392519.2:c.879_881delGCC	14.37:g.105996059_105996061delGCC	ENSP00000376304:p.Pro299del					ADAM6_uc010tyt.1_Intron|uc001yrr.2_5'Flank	p.P299del	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)	2	1030_1032	+		Melanoma(154;0.226)	299			Pro-rich.			In_Frame_Del	DEL	ENST00000392519.2	37	c.879_881delGCC	CCDS10006.1																																																																																					0.768	TMEM121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074621.2	NM_025268		4	2	4	2	---	---	---	---
