#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
CCDC27	148870	broad.mit.edu	37	1	3669365	3669365	+	Splice_Site	SNP	T	T	C	rs149388135		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:3669365T>C	ENST00000294600.2	+	1	402		c.e1+2			NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27									p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAAGACGGTATGGGGTCCC	0.617																																						uc001akv.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e1+2		coiled-coil domain containing 27		T		1,4405		0,1,2202	27.0	27.0	27.0			2.8	0.4	1	dbSNP_134	27	0,8588		0,0,4294	no	splice-5	CCDC27	NM_152492.2		0,1,6496	CC,CT,TT		0.0,0.0227,0.0077			3669365	1,12993	2203	4294	6497	SO:0001630	splice_region_variant	148870							g.chr1:3669365T>C		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.318+2T>C	1.37:g.3669365T>C							p.T106_splice	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	1	399	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)						Q5TBV3|Q96M50	Splice_Site	SNP	ENST00000294600.2	37	c.318_splice	CCDS50.1	.	.	.	.	.	.	.	.	.	.	T	9.230	1.035701	0.19590	2.27E-4	0.0	ENSG00000162592	ENST00000294600	.	.	.	3.95	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8303	0.18577	0.0:0.1182:0.0:0.8818	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC27	3659225	0.987000	0.35691	0.448000	0.26945	0.019000	0.09904	1.538000	0.36094	0.896000	0.36366	0.528000	0.53228	.		PASS	0.617	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	Intron	6	10	6	10	---	---	---	---
AJAP1	55966	broad.mit.edu	37	1	4834552	4834552	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:4834552C>G	ENST00000378191.4	+	5	1610	c.1229C>G	c.(1228-1230)tCc>tGc	p.S410C	AJAP1_ENST00000378190.3_Missense_Mutation_p.S410C	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	410	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S410C(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TTTGAAATCTCCTGCTGACTG	0.517																																						uc001alm.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1228-1230)TCC>TGC		adherens junction associated protein 1							189.0	175.0	180.0					1																	4834552		2203	4300	6503	SO:0001583	missense	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4834552C>G	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1229C>G	1.37:g.4834552C>G	ENSP00000367433:p.Ser410Cys					AJAP1_uc001aln.2_Missense_Mutation_p.S410C	p.S410C	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	5	1610	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	410			Targeting signals.|Cytoplasmic (Potential).		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	c.1229C>G	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578038	0.65878	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.61510	0.1;0.1	5.35	4.44	0.53790	.	0.107099	0.64402	D	0.000006	T	0.64091	0.2567	L	0.27053	0.805	0.51482	D	0.999929	D	0.89917	1.0	D	0.91635	0.999	T	0.68096	-0.5499	10	0.87932	D	0	-32.3672	13.3842	0.60787	0.0:0.9237:0.0:0.0763	.	410	Q9UKB5	AJAP1_HUMAN	C	410	ENSP00000367432:S410C;ENSP00000367433:S410C	ENSP00000367432:S410C	S	+	2	0	AJAP1	4734412	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.535000	0.67173	1.254000	0.44035	-0.126000	0.14955	TCC		PASS	0.517	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		31	104	31	104	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12383778	12383778	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:12383778G>C	ENST00000358136.3	+	35	8061	c.7931G>C	c.(7930-7932)aGg>aCg	p.R2644T	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2644T	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R2644T(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGCTGGCTAGGCTGCAGGAG	0.338																																						uc001atv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(7930-7932)AGG>ACG		vacuolar protein sorting 13D isoform 1							131.0	125.0	127.0					1																	12383778		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12383778G>C	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7931G>C	1.37:g.12383778G>C	ENSP00000350854:p.Arg2644Thr					VPS13D_uc001atw.2_Missense_Mutation_p.R2644T|VPS13D_uc001atx.2_Missense_Mutation_p.R1832T|VPS13D_uc001aty.1_Missense_Mutation_p.R382T	p.R2644T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	35	8072	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2644			UBA.			Missense_Mutation	SNP	ENST00000358136.3	37	c.7931G>C	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.79|15.79	2.936606|2.936606	0.52972|0.52972	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.22743	.|1.94;1.94	5.61|5.61	4.69|4.69	0.59074|0.59074	.|Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	.|0.266389	.|0.30419	.|N	.|0.009666	T|T	0.24198|0.24198	0.0586|0.0586	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|P;B;B	.|0.43938	.|0.822;0.302;0.259	.|P;B;B	.|0.48598	.|0.583;0.143;0.212	T|T	0.00430|0.00430	-1.1744|-1.1744	5|10	.|0.33940	.|T	.|0.23	.|.	10.1906|10.1906	0.43024|0.43024	0.1479:0.0:0.8521:0.0|0.1479:0.0:0.8521:0.0	.|.	.|551;2644;2644	.|B1AJZ2;Q5THJ4-2;Q5THJ4	.|.;.;VP13D_HUMAN	R|T	1467|2644	.|ENSP00000348666:R2644T;ENSP00000350854:R2644T	.|ENSP00000348666:R2644T	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12306365|12306365	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.583000|3.583000	0.53928|0.53928	2.646000|2.646000	0.89796|0.89796	0.637000|0.637000	0.83480|0.83480	GGC|AGG		PASS	0.338	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		9	184	9	184	---	---	---	---
FUCA1	2517	broad.mit.edu	37	1	24192068	24192068	+	Missense_Mutation	SNP	G	G	C	rs2228424	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:24192068G>C	ENST00000374479.3	-	2	444	c.437C>G	c.(436-438)cCg>cGg	p.P146R		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	146			P -> L (in dbSNP:rs2228424).		fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)	p.P146R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CACAGGACTCGGCCAGTTTGT	0.512																																						uc001bie.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1	GRCh37	CD931119	FUCA1	D	rs2228424	c.(436-438)CCG>CGG		fucosidase, alpha-L-1, tissue precursor							131.0	123.0	126.0					1																	24192068		2203	4300	6503	SO:0001583	missense	2517				fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding	g.chr1:24192068G>C	BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.437C>G	1.37:g.24192068G>C	ENSP00000363603:p.Pro146Arg					FUCA1_uc009vqt.1_RNA|FUCA1_uc010oed.1_RNA	p.P146R	NM_000147	NP_000138	P04066	FUCO_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)	2	482	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	146					B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Missense_Mutation	SNP	ENST00000374479.3	37	c.437C>G	CCDS244.2	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231737	0.58777	.	.	ENSG00000179163	ENST00000374479	T	0.60299	0.2	5.23	4.25	0.50352	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.634738	0.16675	N	0.204217	T	0.70491	0.3230	M	0.84683	2.71	0.47183	D	0.999345	P	0.41214	0.742	P	0.49665	0.618	T	0.72181	-0.4368	10	0.44086	T	0.13	-3.7897	13.1728	0.59609	0.0:0.3423:0.6577:0.0	.	146	P04066	FUCO_HUMAN	R	146	ENSP00000363603:P146R	ENSP00000363603:P146R	P	-	2	0	FUCA1	24064655	0.996000	0.38824	0.978000	0.43139	0.933000	0.57130	2.831000	0.48144	2.601000	0.87937	0.561000	0.74099	CCG		PASS	0.512	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008259.2	NM_000147		29	95	29	95	---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24384007	24384007	+	Silent	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:24384007C>G	ENST00000374434.3	-	37	4323	c.4161G>C	c.(4159-4161)ggG>ggC	p.G1387G	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Silent_p.G1390G|MYOM3_ENST00000338909.5_Silent_p.G280G	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1387	Ig-like C2-type 4.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)	p.G1387G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGACCTCTGTCCCCCTCACTT	0.557																																						uc001bin.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(4159-4161)GGG>GGC		myomesin family, member 3							101.0	100.0	101.0					1																	24384007		2013	4186	6199	SO:0001819	synonymous_variant	127294							g.chr1:24384007C>G	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.4161G>C	1.37:g.24384007C>G						MYOM3_uc001bil.3_Silent_p.G280G|MYOM3_uc001bim.3_Silent_p.G1044G	p.G1387G	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	37	4324	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1387			Ig-like C2-type 4.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	ENST00000374434.3	37	c.4161G>C	CCDS41281.1																																																																																				PASS	0.557	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		52	21	52	21	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34035025	34035025	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:34035025G>C	ENST00000373381.4	-	52	8256	c.8080C>G	c.(8080-8082)Cgt>Ggt	p.R2694G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2696	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2696G(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)				ATGCACTCACGCACCCTGGAG	0.572																																						uc001bxn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(8086-8088)CGT>GGT		CUB and Sushi multiple domains 2							94.0	83.0	86.0					1																	34035025		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34035025G>C	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	ENST00000373381.4:c.8080C>G	1.37:g.34035025G>C	ENSP00000362479:p.Arg2694Gly					CSMD2_uc001bxm.1_Missense_Mutation_p.R2694G	p.R2696G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			53	8115	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2696			Sushi 17.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.8086C>G		.	.	.	.	.	.	.	.	.	.	G	13.42	2.231202	0.39399	.	.	ENSG00000121904	ENST00000373381	T	0.65916	-0.18	5.47	3.38	0.38709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.86552	0.5960	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90316	0.4341	10	0.34782	T	0.22	.	15.2115	0.73227	0.0:0.0:0.7334:0.2666	.	2696;2694	Q7Z408;E7EUA6	CSMD2_HUMAN;.	G	2694	ENSP00000362479:R2694G	ENSP00000241312:R2696G	R	-	1	0	CSMD2	33807612	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	3.840000	0.55843	1.295000	0.44724	-0.169000	0.13324	CGT		PASS	0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		34	34	34	34	---	---	---	---
ZMYM1	79830	broad.mit.edu	37	1	35578967	35578967	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:35578967G>T	ENST00000373330.1	+	11	1710	c.1536G>T	c.(1534-1536)aaG>aaT	p.K512N	ZMYM1_ENST00000359858.4_Missense_Mutation_p.K512N|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	512						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K512N(1)|p.K512K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTCAGAAAGCATGAAAAAA	0.363																																						uc001bym.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)		0						c.(1534-1536)AAG>AAT		zinc finger, MYM domain containing 1							85.0	86.0	86.0					1																	35578967		1801	4076	5877	SO:0001583	missense	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35578967G>T	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1536G>T	1.37:g.35578967G>T	ENSP00000362427:p.Lys512Asn					ZMYM1_uc001byn.2_Missense_Mutation_p.K512N|ZMYM1_uc010ohu.1_Missense_Mutation_p.K493N|ZMYM1_uc001byo.2_Missense_Mutation_p.K152N|ZMYM1_uc009vut.2_Missense_Mutation_p.K437N	p.K512N	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	1684	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	512			TTF-type.		D3DPR7|Q7Z3Q4	Missense_Mutation	SNP	ENST00000373330.1	37	c.1536G>T	CCDS41302.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232356	0.39498	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	T;T;T	0.19806	2.38;2.12;2.38	4.7	2.84	0.33178	Zinc finger, TTF-type (1);	0.426912	0.20382	N	0.093425	T	0.36936	0.0985	L	0.61387	1.9	0.29504	N	0.854688	D;D	0.71674	0.998;0.992	D;P	0.69824	0.966;0.883	T	0.13388	-1.0511	9	.	.	.	-11.1756	7.3979	0.26946	0.193:0.0:0.807:0.0	.	493;512	B4DSJ9;Q5SVZ6	.;ZMYM1_HUMAN	N	512;437;512	ENSP00000352920:K512N;ENSP00000362426:K437N;ENSP00000362427:K512N	.	K	+	3	2	ZMYM1	35351554	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	0.835000	0.27531	0.915000	0.36847	-0.218000	0.12543	AAG		PASS	0.363	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772		9	186	9	186	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39757596	39757596	+	Silent	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:39757596A>T	ENST00000372915.3	+	15	1902	c.1815A>T	c.(1813-1815)cgA>cgT	p.R605R	MACF1_ENST00000317713.7_Silent_p.R605R|MACF1_ENST00000564288.1_Silent_p.R600R|MACF1_ENST00000567887.1_Silent_p.R637R|MACF1_ENST00000545844.1_Silent_p.R605R|MACF1_ENST00000361689.2_Silent_p.R605R|MACF1_ENST00000539005.1_Silent_p.R605R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	605					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R605R(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACTGGAGCGAGCAGAGTGGG	0.448																																						uc010ois.1																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1813-1815)CGA>CGT		microfilament and actin filament cross-linker							74.0	67.0	69.0					1																	39757596		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39757596A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1815A>T	1.37:g.39757596A>T						MACF1_uc001cda.1_Silent_p.R513R	p.R605R	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		17	2020	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	605					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.1815A>T																																																																																					PASS	0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		34	12	34	12	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39823278	39823278	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:39823278C>A	ENST00000372915.3	+	44	11758	c.11671C>A	c.(11671-11673)Cat>Aat	p.H3891N	MACF1_ENST00000317713.7_Missense_Mutation_p.H1824N|MACF1_ENST00000564288.1_Missense_Mutation_p.H3886N|MACF1_ENST00000567887.1_Missense_Mutation_p.H3923N|MACF1_ENST00000545844.1_Missense_Mutation_p.H1824N|MACF1_ENST00000361689.2_Missense_Mutation_p.H1824N|MACF1_ENST00000539005.1_Missense_Mutation_p.H1824N|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000289893.4_Missense_Mutation_p.H2326N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3891					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.H1824N(1)|p.H2326N(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTGCAGGATCATAAAGAGTT	0.502																																						uc010oiu.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(6976-6978)CAT>AAT		microfilament and actin filament cross-linker							65.0	68.0	67.0					1																	39823278		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39823278C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11671C>A	1.37:g.39823278C>A	ENSP00000362006:p.His3891Asn					MACF1_uc010ois.1_Missense_Mutation_p.H1824N|MACF1_uc001cda.1_Missense_Mutation_p.H1732N|MACF1_uc001cdc.1_Missense_Mutation_p.H911N|MACF1_uc001cdb.1_Missense_Mutation_p.H911N	p.H2326N	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	7107	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3891			Spectrin 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.6976C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.87|16.87	3.241794|3.241794	0.58995|0.58995	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78;0.78;1.35;0.78|.	6.07|6.07	5.16|5.16	0.70880|0.70880	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	T|.	0.72137|.	0.3423|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;P|.	0.69078|.	0.992;0.975;0.997;0.641|.	D;P;D;B|.	0.83275|.	0.996;0.815;0.989;0.335|.	T|.	0.71984|.	-0.4427|.	10|.	0.28530|.	T|.	0.3|.	.|.	15.2363|15.2363	0.73432|0.73432	0.0:0.9331:0.0:0.0669|0.0:0.9331:0.0:0.0669	.|.	3891;1824;1824;1789|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	N|X	1824;3891;1824;1824;1824;1973;2326|957	ENSP00000439537:H1824N;ENSP00000362006:H3891N;ENSP00000354573:H1824N;ENSP00000313438:H1824N;ENSP00000444364:H1824N;ENSP00000437059:H1973N;ENSP00000289893:H2326N|.	ENSP00000289893:H2326N|.	H|S	+|+	1|2	0|0	MACF1|MACF1	39595865|39595865	0.434000|0.434000	0.25570|0.25570	0.972000|0.972000	0.41901|0.41901	0.948000|0.948000	0.59901|0.59901	0.330000|0.330000	0.19715|0.19715	1.578000|1.578000	0.49821|0.49821	0.655000|0.655000	0.94253|0.94253	CAT|TCA		PASS	0.502	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	47	5	47	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45291982	45291982	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:45291982G>A	ENST00000372192.3	-	19	3184	c.3054C>T	c.(3052-3054)ccC>ccT	p.P1018P	PTCH2_ENST00000447098.2_Silent_p.P1018P	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	1018					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.P1018P(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGATCACCACGGGGATGGCAC	0.582									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - coding silent(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(3052-3054)CCC>CCT		patched 2							124.0	96.0	105.0					1																	45291982		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45291982G>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.3054C>T	1.37:g.45291982G>A						PTCH2_uc010olg.1_Silent_p.P716P	p.P1018P	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			19	3066	-	Acute lymphoblastic leukemia(166;0.155)		1018			Helical; (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.3054C>T	CCDS516.1																																																																																				PASS	0.582	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		20	51	20	51	---	---	---	---
CDCP2	200008	broad.mit.edu	37	1	54610420	54610420	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:54610420A>G	ENST00000371330.1	-	2	993	c.146T>C	c.(145-147)cTg>cCg	p.L49P	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	49	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.L49P(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTAGGGGTACAGTCTAGGGAA	0.567																																						uc001cwv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)CTG>CCG		CUB domain containing protein 2 precursor							75.0	60.0	65.0					1																	54610420		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54610420A>G		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.146T>C	1.37:g.54610420A>G	ENSP00000360381:p.Leu49Pro						p.L49P	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			2	994	-			49			CUB 1.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.146T>C	CCDS588.2	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313326	0.23908	.	.	ENSG00000157211	ENST00000371330	T	0.26373	1.74	5.21	4.0	0.46444	CUB (5);	0.360238	0.26130	N	0.026173	T	0.08537	0.0212	N	0.01048	-1.04	0.58432	D	0.999999	B	0.27140	0.169	B	0.31869	0.137	T	0.17592	-1.0364	10	0.28530	T	0.3	-35.5891	6.9538	0.24560	0.7709:0.1498:0.0793:0.0	.	49	Q5VXM1	CDCP2_HUMAN	P	49	ENSP00000360381:L49P	ENSP00000360381:L49P	L	-	2	0	CDCP2	54383008	0.998000	0.40836	0.921000	0.36526	0.984000	0.73092	2.445000	0.44899	2.093000	0.63338	0.482000	0.46254	CTG		PASS	0.567	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		9	15	9	15	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66036306	66036306	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:66036306A>T	ENST00000406510.3	+	0	308				LEPR_ENST00000371058.1_Missense_Mutation_p.Y64F|LEPR_ENST00000349533.6_Missense_Mutation_p.Y64F|LEPR_ENST00000371060.3_Missense_Mutation_p.Y64F|LEPR_ENST00000344610.8_Missense_Mutation_p.Y64F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.Y64F|snoU13_ENST00000459362.1_RNA			O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.Y64F(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATGGACATTATGAGACAGCT	0.383																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(190-192)TAT>TTT		leptin receptor isoform 1							126.0	123.0	124.0					1																	66036306		2203	4300	6503			3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036306A>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000406510.3:c.-430A>T	1.37:g.66036306A>T						LEPR_uc001dcg.2_Missense_Mutation_p.Y64F|LEPR_uc001dch.2_Missense_Mutation_p.Y64F|LEPR_uc009waq.2_Missense_Mutation_p.Y64F|LEPR_uc001dcj.2_Missense_Mutation_p.Y64F|LEPR_uc001dck.2_Missense_Mutation_p.Y64F	p.Y64F	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	393	+			64			Extracellular (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000406510.3	37	c.191A>T		.	.	.	.	.	.	.	.	.	.	A	10.52	1.373689	0.24857	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.55234	0.55;0.55;0.56;0.53;0.55	5.56	4.42	0.53409	.	0.774373	0.12615	N	0.453558	T	0.35770	0.0943	L	0.57536	1.79	0.80722	D	1	P;B;P;P	0.48230	0.467;0.443;0.579;0.907	B;B;B;P	0.46975	0.154;0.265;0.334;0.533	T	0.21348	-1.0248	10	0.15952	T	0.53	-7.6735	9.4187	0.38536	0.8123:0.1877:0.0:0.0	.	64;64;64;64	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	F	64	ENSP00000340884:Y64F;ENSP00000330393:Y64F;ENSP00000360099:Y64F;ENSP00000360098:Y64F;ENSP00000360097:Y64F	ENSP00000340884:Y64F	Y	+	2	0	LEPR	65808894	0.032000	0.19561	0.851000	0.33527	0.428000	0.31595	1.123000	0.31308	0.924000	0.37069	0.377000	0.23210	TAT		PASS	0.383	LEPR-202	KNOWN	basic	protein_coding	protein_coding		NM_002303		33	59	33	59	---	---	---	---
NEGR1	257194	broad.mit.edu	37	1	72748157	72748157	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:72748157C>A	ENST00000357731.5	-	1	260	c.21G>T	c.(19-21)gtG>gtT	p.V7V	NEGR1_ENST00000434200.1_Silent_p.V5V	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	7					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.V7V(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAGCACCCTGCACCAACAGCA	0.642																																						uc001dfw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(19-21)GTG>GTT		neuronal growth regulator 1 precursor							93.0	72.0	79.0					1																	72748157		2203	4300	6503	SO:0001819	synonymous_variant	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72748157C>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.21G>T	1.37:g.72748157C>A						NEGR1_uc010oqs.1_Silent_p.V7V	p.V7V	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	1	121	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	7					Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Silent	SNP	ENST00000357731.5	37	c.21G>T	CCDS661.1																																																																																				PASS	0.642	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		3	33	3	33	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037348	75037348	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:75037348G>A	ENST00000326665.5	-	14	4264	c.4046C>T	c.(4045-4047)aCg>aTg	p.T1349M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1349	Glu-rich.							p.T1349M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTTTCTGCCGTTTCACCACC	0.532																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(4045-4047)ACG>ATG		hypothetical protein LOC127254							187.0	183.0	184.0					1																	75037348		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037348G>A																												ENST00000326665.5:c.4046C>T	1.37:g.75037348G>A	ENSP00000322609:p.Thr1349Met						p.T1349M	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4265	-			1349			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.4046C>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	7.867	0.727309	0.15439	.	.	ENSG00000178965	ENST00000326665	T	0.12255	2.7	3.99	-6.9	0.01655	.	.	.	.	.	T	0.01124	0.0037	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.45527	-0.9255	9	0.45353	T	0.12	.	2.2127	0.03952	0.4197:0.2057:0.271:0.1037	.	1349	Q5RHP9	CA173_HUMAN	M	1349	ENSP00000322609:T1349M	ENSP00000322609:T1349M	T	-	2	0	C1orf173	74809936	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.118000	0.00596	-1.472000	0.01883	-0.254000	0.11334	ACG		PASS	0.532	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			32	67	32	67	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77987624	77987624	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:77987624G>A	ENST00000354567.2	+	12	1687	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	AK5_ENST00000344720.5_Missense_Mutation_p.R449H	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	475	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.R475H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGTTCGGACGCAGGGTGAGT	0.527																																						uc001dhn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1423-1425)CGC>CAC		adenylate kinase 5 isoform 1							47.0	49.0	48.0					1																	77987624		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77987624G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1424G>A	1.37:g.77987624G>A	ENSP00000346577:p.Arg475His					AK5_uc001dho.2_Missense_Mutation_p.R449H	p.R475H	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			12	1681	+			475					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1424G>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279685	0.59758	.	.	ENSG00000154027	ENST00000354567;ENST00000344720	T;T	0.76060	-0.99;-0.99	4.76	3.84	0.44239	.	0.517672	0.18511	N	0.139071	T	0.44871	0.1314	N	0.25825	0.765	0.80722	D	1	B	0.21071	0.051	B	0.20577	0.03	T	0.49224	-0.8962	10	0.54805	T	0.06	-0.1525	8.5566	0.33485	0.1823:0.0:0.8177:0.0	.	475	Q9Y6K8	KAD5_HUMAN	H	475;449	ENSP00000346577:R475H;ENSP00000341430:R449H	ENSP00000341430:R449H	R	+	2	0	AK5	77760212	0.209000	0.23505	0.947000	0.38551	0.988000	0.76386	1.215000	0.32431	1.113000	0.41760	0.650000	0.86243	CGC		PASS	0.527	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		19	31	19	31	---	---	---	---
GIPC2	54810	broad.mit.edu	37	1	78511862	78511862	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:78511862C>A	ENST00000370759.3	+	1	277	c.84C>A	c.(82-84)ggC>ggA	p.G28G	GIPC2_ENST00000476882.1_Intron	NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	28						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.G28G(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						CGGGCGCGGGCGGCGGGAGCC	0.721																																						uc001dik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(82-84)GGC>GGA		PDZ domain protein GIPC2							5.0	8.0	7.0					1																	78511862		1935	3860	5795	SO:0001819	synonymous_variant	54810					cytoplasm		g.chr1:78511862C>A	AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.84C>A	1.37:g.78511862C>A							p.G28G	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN			1	274	+			28					Q8IYD3|Q9NXS7	Silent	SNP	ENST00000370759.3	37	c.84C>A	CCDS685.1																																																																																				PASS	0.721	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098629.1	NM_017655		3	2	3	2	---	---	---	---
CDC14A	8556	broad.mit.edu	37	1	100819406	100819406	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:100819406A>T	ENST00000336454.3	+	2	493	c.138A>T	c.(136-138)gaA>gaT	p.E46D	CDC14A_ENST00000361544.6_Missense_Mutation_p.E46D|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000370125.2_Missense_Mutation_p.E46D|CDC14A_ENST00000544534.1_Missense_Mutation_p.E46D|CDC14A_ENST00000370124.3_Missense_Mutation_p.E46D	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	46	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E46D(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TGGTCTATGAAAAGTAAGTTT	0.363																																						uc001dtg.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(136-138)GAA>GAT		CDC14 homolog A isoform 1							88.0	79.0	82.0					1																	100819406		2202	4300	6502	SO:0001583	missense	8556				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:100819406A>T	AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.138A>T	1.37:g.100819406A>T	ENSP00000336739:p.Glu46Asp					CDC14A_uc009web.2_Intron|CDC14A_uc010oui.1_5'UTR|CDC14A_uc001dte.3_Missense_Mutation_p.E46D|CDC14A_uc001dtf.2_Missense_Mutation_p.E46D|CDC14A_uc009wed.1_5'UTR|CDC14A_uc009wee.2_Missense_Mutation_p.E46D|CDC14A_uc009wec.1_Missense_Mutation_p.E46D	p.E46D	NM_003672	NP_003663	Q9UNH5	CC14A_HUMAN		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)	2	626	+		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)	46			A.		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	c.138A>T	CCDS769.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564408	0.65651	.	.	ENSG00000079335	ENST00000455467;ENST00000370125;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.33411	0.0862	M	0.65498	2.005	0.80722	D	1	B;B;B;B;B	0.25743	0.082;0.004;0.082;0.133;0.002	B;B;B;B;B	0.32928	0.074;0.01;0.042;0.155;0.004	T	0.39921	-0.9590	10	0.72032	D	0.01	-19.9598	13.9289	0.63981	1.0:0.0:0.0:0.0	.	46;46;46;46;46	A6MA65;Q9UNH5-3;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	D	47;46;46;46;46;46	ENSP00000388501:E47D;ENSP00000359143:E46D;ENSP00000354916:E46D;ENSP00000359142:E46D;ENSP00000336739:E46D;ENSP00000442543:E46D	ENSP00000336739:E46D	E	+	3	2	CDC14A	100591994	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.138000	0.58017	2.009000	0.58944	0.454000	0.30748	GAA		PASS	0.363	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312		8	6	8	6	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109810620	109810620	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:109810620G>T	ENST00000271332.3	+	17	6317	c.6256G>T	c.(6256-6258)Gcc>Tcc	p.A2086S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2086					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A2086S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCGGCTGCTGGCCCACGAGAG	0.657																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(6256-6258)GCC>TCC		cadherin EGF LAG seven-pass G-type receptor 2							30.0	32.0	31.0					1																	109810620		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109810620G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6256G>T	1.37:g.109810620G>T	ENSP00000271332:p.Ala2086Ser						p.A2086S	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	17	6317	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2086			Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.6256G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920363	0.17982	.	.	ENSG00000143126	ENST00000271332	T	0.09350	2.99	4.54	4.54	0.55810	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.02727	0.0082	L	0.39898	1.24	0.31461	N	0.669561	B	0.26002	0.139	B	0.30251	0.113	T	0.40478	-0.9561	9	0.08599	T	0.76	.	6.0367	0.19712	0.1644:0.1639:0.6717:0.0	.	2086	Q9HCU4	CELR2_HUMAN	S	2086	ENSP00000271332:A2086S	ENSP00000271332:A2086S	A	+	1	0	CELSR2	109612143	0.991000	0.36638	1.000000	0.80357	0.980000	0.70556	1.165000	0.31822	2.349000	0.79799	0.591000	0.81541	GCC		PASS	0.657	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		14	23	14	23	---	---	---	---
SLC22A15	55356	broad.mit.edu	37	1	116519279	116519279	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:116519279G>A	ENST00000369503.4	+	1	161	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	SLC22A15_ENST00000369502.1_Missense_Mutation_p.G11R	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	11					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.G11R(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCAGGCGGTGGGGGAGATGGG	0.711																																						uc001egb.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(31-33)GGG>AGG		solute carrier family 22, member 15							55.0	71.0	66.0					1																	116519279		2029	4170	6199	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116519279G>A	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.31G>A	1.37:g.116519279G>A	ENSP00000358515:p.Gly11Arg					SLC22A15_uc001ega.2_Missense_Mutation_p.G11R	p.G11R	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	1	161	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	11					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.31G>A	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339244	0.81911	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.80994	-1.44;-1.14	4.09	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.85336	0.5673	M	0.65498	2.005	0.50039	D	0.999848	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87575	0.2480	10	0.87932	D	0	.	13.7734	0.63039	0.0:0.0:1.0:0.0	.	11;11	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	R	11	ENSP00000358515:G11R;ENSP00000358514:G11R	ENSP00000358514:G11R	G	+	1	0	SLC22A15	116320802	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.386000	0.66238	1.800000	0.52685	0.205000	0.17691	GGG		PASS	0.711	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		8	22	8	22	---	---	---	---
RPRD2	23248	broad.mit.edu	37	1	150444718	150444718	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:150444718G>T	ENST00000369068.4	+	11	3298	c.3294G>T	c.(3292-3294)atG>atT	p.M1098I	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.M1072I	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1098						DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.M1098I(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATAGGAGGATGTCAGGGGAGC	0.542																																						uc009wlr.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3292-3294)ATG>ATT		Regulation of nuclear pre-mRNA domain containing							35.0	38.0	37.0					1																	150444718		1908	4135	6043	SO:0001583	missense	23248						protein binding	g.chr1:150444718G>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.3294G>T	1.37:g.150444718G>T	ENSP00000358064:p.Met1098Ile					RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.M1072I	p.M1098I	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	3495	+			1098					A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.3294G>T	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	9.762	1.170351	0.21621	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	T;T	0.44881	0.91;0.91	5.14	5.14	0.70334	.	0.065385	0.64402	D	0.000002	T	0.14184	0.0343	N	0.12182	0.205	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.03587	-1.1022	10	0.40728	T	0.16	-10.3096	13.3801	0.60762	0.0:0.0:0.8426:0.1574	.	1098;1072	Q5VT52;Q5VT52-3	RPRD2_HUMAN;.	I	1072;1098	ENSP00000383785:M1072I;ENSP00000358064:M1098I	ENSP00000358064:M1098I	M	+	3	0	RPRD2	148711342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.527000	0.60573	2.659000	0.90383	0.655000	0.94253	ATG		PASS	0.542	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		18	26	18	26	---	---	---	---
ADAMTSL4	54507	broad.mit.edu	37	1	150526475	150526475	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:150526475C>A	ENST00000369038.2	+	4	1209	c.1008C>A	c.(1006-1008)ggC>ggA	p.G336G	ADAMTSL4_ENST00000369041.5_Silent_p.G336G|ADAMTSL4_ENST00000369039.5_Silent_p.G336G|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000271643.4_Silent_p.G336G|MIR4257_ENST00000581735.1_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	336					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.G336G(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGCACCCGGGCGCCTGGCTGC	0.692																																						uc001eux.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1006-1008)GGC>GGA		thrombospondin repeat containing 1 isoform 1							10.0	13.0	12.0					1																	150526475		2127	4190	6317	SO:0001819	synonymous_variant	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150526475C>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1008C>A	1.37:g.150526475C>A						ADAMTSL4_uc001euw.2_Silent_p.G336G|ADAMTSL4_uc009wlw.2_Silent_p.G336G|ADAMTSL4_uc010pcg.1_Silent_p.G336G	p.G336G	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		6	1244	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		336					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	ENST00000369038.2	37	c.1008C>A	CCDS955.1																																																																																				PASS	0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		23	23	23	23	---	---	---	---
ATP8B2	57198	broad.mit.edu	37	1	154316910	154316910	+	Missense_Mutation	SNP	C	C	T	rs367934414		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:154316910C>T	ENST00000368489.3	+	20	2174	c.2174C>T	c.(2173-2175)aCg>aTg	p.T725M		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	711					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.T725M(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)			AAGATGCTGACGGATGACATG	0.562																																						uc001fex.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2173-2175)ACG>ATG		ATPase, class I, type 8B, member 2 isoform a		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	150.0	122.0	131.0		2174	2.7	0.1	1		131	0,8600		0,0,4300	no	missense	ATP8B2	NM_020452.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	725/1224	154316910	1,13005	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.chr1:154316910C>T	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.2174C>T	1.37:g.154316910C>T	ENSP00000357475:p.Thr725Met						p.T725M	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		20	2174	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		711			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2174C>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016397	0.35606	2.27E-4	0.0	ENSG00000143515	ENST00000368489	D	0.82893	-1.66	5.65	2.73	0.32206	.	0.058713	0.64402	D	0.000003	D	0.88358	0.6415	M	0.89353	3.025	0.80722	D	1	D	0.67145	0.996	P	0.61275	0.886	D	0.89913	0.4053	10	0.72032	D	0.01	.	13.7643	0.62986	0.5332:0.4668:0.0:0.0	.	725	P98198-3	.	M	725	ENSP00000357475:T725M	ENSP00000357475:T725M	T	+	2	0	ATP8B2	152583534	0.957000	0.32711	0.080000	0.20451	0.006000	0.05464	2.174000	0.42482	0.453000	0.26858	-0.169000	0.13324	ACG		PASS	0.562	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		90	142	90	142	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156622070	156622070	+	Missense_Mutation	SNP	C	C	A	rs199791981		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:156622070C>A	ENST00000329117.5	+	8	1664	c.1328C>A	c.(1327-1329)aCg>aAg	p.T443K	BCAN_ENST00000361588.5_Missense_Mutation_p.T443K|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	443	Glu-rich.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.T443K(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACCGCCCACGGGGTTCTCA	0.488																																						uc001fpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1327-1329)ACG>AAG		brevican isoform 1							58.0	56.0	57.0					1																	156622070		2203	4299	6502	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622070C>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1328C>A	1.37:g.156622070C>A	ENSP00000331210:p.Thr443Lys					BCAN_uc001fpo.2_Missense_Mutation_p.T443K	p.T443K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			8	1664	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		443			Glu-rich.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1328C>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	2.569	-0.299994	0.05532	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	T;T	0.13778	2.56;3.28	4.85	-4.74	0.03249	.	1.870930	0.02793	N	0.122226	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B;B	0.32071	0.049;0.355	B;B	0.32583	0.029;0.148	T	0.33007	-0.9885	10	0.21014	T	0.42	5.0452	4.1354	0.10169	0.2556:0.2979:0.0:0.4465	.	443;443	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	K	382;443;443	ENSP00000331210:T443K;ENSP00000354925:T443K	ENSP00000255029:T382K	T	+	2	0	BCAN	154888694	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.232000	0.02936	-0.780000	0.04553	0.561000	0.74099	ACG		PASS	0.488	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		75	71	75	71	---	---	---	---
NES	10763	broad.mit.edu	37	1	156639207	156639207	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:156639207C>A	ENST00000368223.3	-	4	4905	c.4773G>T	c.(4771-4773)tgG>tgT	p.W1591C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1591	Tail.			TSW -> RSS (in Ref. 1; CAA46780). {ECO:0000305}.	brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.W1591C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGCCCCTGCCCAAGAGGTCT	0.587																																						uc001fpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(4771-4773)TGG>TGT		nestin							78.0	73.0	75.0					1																	156639207		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639207C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4773G>T	1.37:g.156639207C>A	ENSP00000357206:p.Trp1591Cys						p.W1591C	NM_006617	NP_006608	P48681	NEST_HUMAN			4	4906	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1591	TSW -> RSS (in Ref. 1; CAA46780).		Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.4773G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.748065	0.30955	.	.	ENSG00000132688	ENST00000368223	D	0.89552	-2.53	4.55	2.59	0.31030	.	.	.	.	.	D	0.85969	0.5821	L	0.55481	1.735	0.18873	N	0.999985	D	0.71674	0.998	P	0.58520	0.84	T	0.76764	-0.2839	9	0.87932	D	0	.	7.697	0.28600	0.0:0.7203:0.0:0.2797	.	1591	P48681	NEST_HUMAN	C	1591	ENSP00000357206:W1591C	ENSP00000357206:W1591C	W	-	3	0	NES	154905831	0.002000	0.14202	0.961000	0.40146	0.656000	0.38851	0.710000	0.25748	0.871000	0.35750	0.313000	0.20887	TGG		PASS	0.587	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		85	59	85	59	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158735905	158735905	+	Missense_Mutation	SNP	T	T	A	rs75984757	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:158735905T>A	ENST00000335094.2	-	1	587	c.568A>T	c.(568-570)Act>Tct	p.T190S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T190S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GACGTATCAGTGCAAGCCAAA	0.453																																						uc010piq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)ACT>TCT		olfactory receptor, family 6, subfamily N,							107.0	111.0	110.0					1																	158735905		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158735905T>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.568A>T	1.37:g.158735905T>A	ENSP00000335535:p.Thr190Ser						p.T190S	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	568	-	all_hematologic(112;0.0378)		190			Extracellular (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.568A>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	T	9.836	1.189701	0.21954	.	.	ENSG00000197403	ENST00000335094	T	0.00027	8.93	4.78	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000214	T	0.00012	0.0000	N	0.05031	-0.125	0.26322	N	0.977657	B	0.22983	0.078	B	0.26202	0.067	T	0.27020	-1.0086	10	0.02654	T	1	-18.3931	13.4224	0.61005	0.0:0.0:0.0:1.0	.	190	Q8NGY5	OR6N1_HUMAN	S	190	ENSP00000335535:T190S	ENSP00000335535:T190S	T	-	1	0	OR6N1	157002529	0.000000	0.05858	1.000000	0.80357	0.959000	0.62525	-0.117000	0.10708	1.986000	0.57962	0.533000	0.62120	ACT		PASS	0.453	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		96	130	96	130	---	---	---	---
FCRLA	84824	broad.mit.edu	37	1	161680553	161680553	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:161680553C>A	ENST00000236938.6	+	2	376	c.134C>A	c.(133-135)gCc>gAc	p.A45D	FCRLA_ENST00000367953.3_Missense_Mutation_p.A34D|FCRLA_ENST00000349527.4_Missense_Mutation_p.A28D|FCRLA_ENST00000546024.1_Missense_Mutation_p.A45D|FCRLA_ENST00000540926.1_Missense_Mutation_p.A34D|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367949.2_Missense_Mutation_p.A45D|FCRLA_ENST00000367950.1_Missense_Mutation_p.A5D|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.A28D|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.A51D	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	28					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.A28D(1)|p.A51D(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCTTCAGCTGCCAGTTTTGAG	0.532																																						uc001gbe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(151-153)GCC>GAC		Fc receptor-like and mucin-like 1							59.0	53.0	55.0					1																	161680553		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161680553C>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.134C>A	1.37:g.161680553C>A	ENSP00000236938:p.Ala45Asp					FCRLA_uc001gbd.2_Missense_Mutation_p.A45D|FCRLA_uc001gbf.2_Missense_Mutation_p.A45D|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Missense_Mutation_p.A45D|FCRLA_uc009wuq.2_Intron	p.A51D	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		3	394	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.152C>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799877	0.31869	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000367949;ENST00000540926;ENST00000349527;ENST00000309691;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T	0.58060	5.32;5.14;4.18;0.36;5.45;3.53;4.24;5.2;0.39	4.59	3.68	0.42216	.	0.000000	0.46442	D	0.000285	T	0.53318	0.1789	M	0.61703	1.905	0.22479	N	0.999068	D;D;D;D	0.89917	1.0;1.0;0.989;0.992	D;D;P;P	0.75484	0.986;0.981;0.881;0.9	T	0.45056	-0.9287	10	0.56958	D	0.05	.	8.8428	0.35153	0.0:0.8981:0.0:0.1019	.	45;45;51;45	A6NL20;G3V1J2;A6NC03;Q7L513-9	.;.;.;.	D	45;51;45;45;34;28;28;34;5	ENSP00000236938:A45D;ENSP00000356936:A51D;ENSP00000439838:A45D;ENSP00000356926:A45D;ENSP00000446380:A34D;ENSP00000294798:A28D;ENSP00000309596:A28D;ENSP00000356930:A34D;ENSP00000356927:A5D	ENSP00000236938:A45D	A	+	2	0	FCRLA	159947177	0.945000	0.32115	0.603000	0.28903	0.539000	0.34962	1.736000	0.38187	1.287000	0.44583	0.655000	0.94253	GCC		PASS	0.532	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		54	61	54	61	---	---	---	---
C1orf110	339512	broad.mit.edu	37	1	162829412	162829412	+	Missense_Mutation	SNP	G	G	T	rs371986435		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:162829412G>T	ENST00000367910.1	-	2	145	c.25C>A	c.(25-27)Caa>Aaa	p.Q9K	C1orf110_ENST00000367911.2_Missense_Mutation_p.Q5K|C1orf110_ENST00000367912.2_Missense_Mutation_p.Q9K	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	9								p.Q9K(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						TTATACAATTGTCCCCTGACC	0.443																																						uc001gck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(25-27)CAA>AAA		hypothetical protein LOC339512		G	LYS/GLN	1,3821		0,1,1910	120.0	109.0	113.0		25	1.3	0.0	1		113	0,8266		0,0,4133	no	missense	C1orf110	NM_178550.4	53	0,1,6043	TT,TG,GG		0.0,0.0262,0.0083	benign	9/303	162829412	1,12087	1911	4133	6044	SO:0001583	missense	339512							g.chr1:162829412G>T	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.25C>A	1.37:g.162829412G>T	ENSP00000356886:p.Gln9Lys					C1orf110_uc009wux.1_Missense_Mutation_p.Q9K	p.Q9K	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			2	200	-			9					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.25C>A	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	4.930	0.172705	0.09391	2.62E-4	0.0	ENSG00000185860	ENST00000367912;ENST00000367911;ENST00000367910	.	.	.	4.46	1.33	0.21861	.	1.031490	0.07714	N	0.942517	T	0.18045	0.0433	L	0.36672	1.1	0.23101	N	0.998291	B;B	0.21452	0.056;0.056	B;B	0.23018	0.043;0.043	T	0.21075	-1.0256	8	0.49607	T	0.09	-0.3311	6.1894	0.20516	0.1072:0.3976:0.4952:0.0	.	9;9	Q86UF4-2;Q86UF4	.;CA110_HUMAN	K	9;5;9	.	ENSP00000356886:Q9K	Q	-	1	0	C1orf110	161096036	0.001000	0.12720	0.005000	0.12908	0.219000	0.24729	0.836000	0.27545	0.491000	0.27793	0.655000	0.94253	CAA		PASS	0.443	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		47	52	47	52	---	---	---	---
RGS5	8490	broad.mit.edu	37	1	163117197	163117197	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:163117197G>T	ENST00000313961.5	-	5	758	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	RGS5_ENST00000530507.1_Missense_Mutation_p.L165M|RGS5_ENST00000527988.1_Missense_Mutation_p.L53M|RGS5_ENST00000367903.3_Missense_Mutation_p.L181M	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	161	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.L161M(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TTTTCCATCAGGGCATGGATT	0.443																																						uc001gcn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CTG>ATG		regulator of G-protein signalling 5							148.0	133.0	138.0					1																	163117197		2203	4300	6503	SO:0001583	missense	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163117197G>T	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.481C>A	1.37:g.163117197G>T	ENSP00000319308:p.Leu161Met					RGS5_uc009wvb.2_RNA	p.L161M	NM_003617	NP_003608	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		5	728	-			161			RGS.		E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	ENST00000313961.5	37	c.481C>A	CCDS1244.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191059	0.78902	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000527988	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.37	5.37	0.77165	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	M	0.87900	2.915	0.43930	D	0.996586	D	0.89917	1.0	D	0.91635	0.999	D	0.85062	0.0935	9	0.87932	D	0	.	16.6223	0.84933	0.0:0.0:1.0:0.0	.	161	O15539	RGS5_HUMAN	M	161;181;165;53	ENSP00000319308:L161M;ENSP00000356879:L181M;ENSP00000433001:L165M;ENSP00000432313:L53M	ENSP00000319308:L161M	L	-	1	2	RGS5	161383821	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.771000	0.62318	2.512000	0.84698	0.655000	0.94253	CTG		PASS	0.443	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617		101	106	101	106	---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165398161	165398161	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:165398161G>T	ENST00000359842.5	-	2	394	c.92C>A	c.(91-93)gCa>gAa	p.A31E		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	31	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A31E(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	GGACAAGGCTGCTGATGGGCT	0.587																																						uc001gda.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GCA>GAA		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						61.0	54.0	57.0					1																	165398161		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165398161G>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.92C>A	1.37:g.165398161G>T	ENSP00000352900:p.Ala31Glu						p.A31E	NM_006917	NP_008848	P48443	RXRG_HUMAN			2	392	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		31			Modulating (By similarity).		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.92C>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710159	0.30322	.	.	ENSG00000143171	ENST00000359842	D	0.92048	-2.96	4.71	3.79	0.43588	.	1.086520	0.06972	N	0.818301	T	0.69450	0.3112	N	0.14661	0.345	0.22541	N	0.999009	B	0.26708	0.157	B	0.25759	0.063	T	0.43491	-0.9388	9	0.02654	T	1	.	10.8311	0.46661	0.094:0.0:0.906:0.0	.	31	P48443	RXRG_HUMAN	E	31	ENSP00000352900:A31E	ENSP00000352900:A31E	A	-	2	0	RXRG	163664785	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	4.784000	0.62411	1.170000	0.42753	0.561000	0.74099	GCA		PASS	0.587	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		54	85	54	85	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372337	175372337	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:175372337T>C	ENST00000367674.2	-	4	1623	c.915A>G	c.(913-915)ggA>ggG	p.G305G	TNR_ENST00000263525.2_Silent_p.G305G			Q92752	TENR_HUMAN	tenascin R	305	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.G305G(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTCACATTGTCCTCGCCCAC	0.617																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(913-915)GGA>GGG		tenascin R precursor							100.0	77.0	85.0					1																	175372337		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372337T>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.915A>G	1.37:g.175372337T>C						TNR_uc009wwu.1_Silent_p.G305G|TNR_uc010pmz.1_Silent_p.G305G	p.G305G	NM_003285	NP_003276	Q92752	TENR_HUMAN			2	996	-	Renal(580;0.146)		305			Cys-rich.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.915A>G	CCDS1318.1																																																																																				PASS	0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		66	78	66	78	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183497094	183497094	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:183497094G>A	ENST00000347615.2	+	6	607	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000367537.3_Missense_Mutation_p.R192Q|SMG7_ENST00000507469.1_Missense_Mutation_p.R163Q|SMG7_ENST00000456731.2_Missense_Mutation_p.R121Q|SMG7_ENST00000508461.1_Missense_Mutation_p.R121Q|SMG7_ENST00000515829.2_Missense_Mutation_p.R163Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	163					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.R163Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTCTTAGCTCGATACAGAAAC	0.403																																						uc001gqg.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(487-489)CGA>CAA		SMG-7 homolog isoform 1							76.0	67.0	70.0					1																	183497094		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183497094G>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.488G>A	1.37:g.183497094G>A	ENSP00000340766:p.Arg163Gln					SMG7_uc010pob.1_Missense_Mutation_p.R192Q|SMG7_uc001gqf.2_Missense_Mutation_p.R163Q|SMG7_uc001gqh.2_Missense_Mutation_p.R163Q|SMG7_uc001gqi.2_Missense_Mutation_p.R121Q|SMG7_uc010poc.1_Missense_Mutation_p.R121Q	p.R163Q	NM_173156	NP_775179	Q92540	SMG7_HUMAN			6	610	+			163	R->E: Abolishes interaction with UPF1; when associated with E-66.		TPR 1.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.488G>A	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083371	0.94050	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.76	5.76	0.90799	Tetratricopeptide-like helical (1);Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.53029	0.1771	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;1.0;1.0	T	0.52283	-0.8596	10	0.87932	D	0	-9.7678	19.9759	0.97304	0.0:0.0:1.0:0.0	.	121;192;121;163;163;163	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	121;192;121;121;163;163;163	ENSP00000407629:R121Q;ENSP00000356507:R192Q;ENSP00000426915:R121Q;ENSP00000388390:R121Q;ENSP00000340766:R163Q;ENSP00000425133:R163Q;ENSP00000421358:R163Q	ENSP00000340766:R163Q	R	+	2	0	SMG7	181763717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.191000	0.94940	2.713000	0.92767	0.655000	0.94253	CGA		PASS	0.403	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		4	99	4	99	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186316424	186316424	+	Splice_Site	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:186316424C>G	ENST00000367478.4	-	22	3239	c.2943G>C	c.(2941-2943)caG>caC	p.Q981H		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	981					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.Q982H(1)|p.Q981H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTATACATACCTGTTTTTCCT	0.333			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2941-2943)CAG>CAC		nuclear pore complex-associated protein TPR							195.0	177.0	183.0					1																	186316424		1853	4099	5952	SO:0001630	splice_region_variant	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186316424C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2943+1G>C	1.37:g.186316424C>G							p.Q981H	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	22	3240	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	981			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.2943G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909686	0.72983	.	.	ENSG00000047410	ENST00000367478	T	0.24908	1.83	5.25	4.32	0.51571	Prefoldin (1);	0.053045	0.85682	D	0.000000	T	0.31263	0.0791	L	0.29908	0.895	0.53688	D	0.999973	D	0.67145	0.996	P	0.59703	0.862	T	0.01198	-1.1421	9	.	.	.	.	11.7207	0.51680	0.0:0.8574:0.0:0.1426	.	981	P12270	TPR_HUMAN	H	981	ENSP00000356448:Q981H	.	Q	-	3	2	TPR	184583047	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.126000	0.57937	2.445000	0.82738	0.591000	0.81541	CAG		PASS	0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	Missense_Mutation	66	117	66	117	---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193218893	193218893	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:193218893G>T	ENST00000367435.3	+	16	1635	c.1451G>T	c.(1450-1452)cGt>cTt	p.R484L	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	484	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)	p.R484L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GATGAAGTTCGTCTGGATCCA	0.338																																						uc001gtb.2																			1	Substitution - Missense(1)		lung(1)	parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49						c.(1450-1452)CGT>CTT		parafibromin							95.0	94.0	94.0					1																	193218893		2203	4300	6503	SO:0001583	missense	79577	Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome			cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193218893G>T	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1451G>T	1.37:g.193218893G>T	ENSP00000356405:p.Arg484Leu						p.R484L	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN			16	1694	+			484					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.1451G>T	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721023	0.68959	.	.	ENSG00000134371	ENST00000367435	T	0.64260	-0.09	5.8	4.89	0.63831	.	0.113282	0.56097	D	0.000035	T	0.58609	0.2134	L	0.53249	1.67	0.53688	D	0.999978	B	0.30851	0.297	B	0.31686	0.134	T	0.57751	-0.7757	10	0.39692	T	0.17	-8.8433	14.7849	0.69796	0.0693:0.0:0.9307:0.0	.	484	Q6P1J9	CDC73_HUMAN	L	484	ENSP00000356405:R484L	ENSP00000356405:R484L	R	+	2	0	CDC73	191485516	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.957000	0.63652	1.445000	0.47624	0.591000	0.81541	CGT		PASS	0.338	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		39	25	39	25	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196303136	196303136	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:196303136G>T	ENST00000294725.9	-	17	2753	c.1838C>A	c.(1837-1839)aCc>aAc	p.T613N	KCNT2_ENST00000367431.4_Missense_Mutation_p.T563N|KCNT2_ENST00000367433.5_Missense_Mutation_p.T613N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.T563N|KCNT2_ENST00000451324.2_Missense_Mutation_p.T224N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	613					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.T613N(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAGAGACAGGGTAGGGCCACT	0.398																																						uc001gtd.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(1837-1839)ACC>AAC		potassium channel, subfamily T, member 2							111.0	100.0	104.0					1																	196303136		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196303136G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1838C>A	1.37:g.196303136G>T	ENSP00000294725:p.Thr613Asn					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.T563N|KCNT2_uc001gtf.1_Missense_Mutation_p.T613N|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T613N|KCNT2_uc001gth.1_Missense_Mutation_p.T134N	p.T613N	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			17	1898	-			613			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.1838C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	9.952	1.220319	0.22457	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.30981	2.25;2.25;1.51;2.52	4.67	3.68	0.42216	.	0.101645	0.42964	D	0.000631	T	0.27866	0.0686	L	0.51422	1.61	0.44409	D	0.997321	B;B;B;B;B	0.09022	0.0;0.0;0.001;0.002;0.0	B;B;B;B;B	0.10450	0.001;0.001;0.002;0.005;0.001	T	0.07501	-1.0769	10	0.17369	T	0.5	-5.689	15.351	0.74384	0.0:0.0:0.851:0.149	.	613;595;613;563;613	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	N	613;563;434;224;613	ENSP00000356403:T613N;ENSP00000356401:T563N;ENSP00000405474:T224N;ENSP00000294725:T613N	ENSP00000294725:T613N	T	-	2	0	KCNT2	194569759	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.757000	0.62213	2.418000	0.82041	0.655000	0.94253	ACC		PASS	0.398	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		5	113	5	113	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196963327	196963327	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:196963327G>T	ENST00000256785.4	+	4	657	c.548G>T	c.(547-549)gGa>gTa	p.G183V	CFHR5_ENST00000367414.5_Missense_Mutation_p.G207V			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	183	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.G183V(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATAAGAGTTGGATCAGACTCA	0.353																																						uc001gts.3																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(547-549)GGA>GTA		complement factor H-related 5 precursor							100.0	112.0	108.0					1																	196963327		2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196963327G>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.548G>T	1.37:g.196963327G>T	ENSP00000256785:p.Gly183Val						p.G183V	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			4	676	+			183			Sushi 3.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.548G>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301277	0.23650	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.73258	-0.73;-0.73	3.68	3.68	0.42216	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.87370	0.6160	H	0.94222	3.51	0.22911	N	0.998577	D	0.89917	1.0	D	0.97110	1.0	T	0.78056	-0.2353	9	0.87932	D	0	.	11.2523	0.49032	0.0:0.0:1.0:0.0	.	183	Q9BXR6	FHR5_HUMAN	V	207;183	ENSP00000356384:G207V;ENSP00000256785:G183V	ENSP00000256785:G183V	G	+	2	0	CFHR5	195229950	1.000000	0.71417	0.078000	0.20375	0.044000	0.14063	4.660000	0.61511	1.774000	0.52232	0.297000	0.19635	GGA		PASS	0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		133	152	133	152	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200550341	200550341	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:200550341T>C	ENST00000367350.4	-	20	3761	c.3323A>G	c.(3322-3324)tAt>tGt	p.Y1108C		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1108	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.Y1108C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCCAAAAACATAGTATGTTTT	0.313																																						uc010ppk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(3322-3324)TAT>TGT		kinesin family member 14							89.0	92.0	91.0					1																	200550341		2202	4300	6502	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200550341T>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3323A>G	1.37:g.200550341T>C	ENSP00000356319:p.Tyr1108Cys					KIF14_uc010ppj.1_Missense_Mutation_p.Y617C	p.Y1108C	NM_014875	NP_055690	Q15058	KIF14_HUMAN			20	3762	-			1108			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3323A>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577780	0.65878	.	.	ENSG00000118193	ENST00000367350	T	0.17054	2.3	5.44	4.24	0.50183	.	0.153645	0.40818	N	0.001009	T	0.32675	0.0837	M	0.63428	1.95	0.38906	D	0.957435	D	0.76494	0.999	D	0.64144	0.922	T	0.06716	-1.0811	10	0.39692	T	0.17	.	10.3154	0.43734	0.0:0.0:0.3292:0.6708	.	1108	Q15058	KIF14_HUMAN	C	1108	ENSP00000356319:Y1108C	ENSP00000356319:Y1108C	Y	-	2	0	KIF14	198816964	1.000000	0.71417	0.975000	0.42487	0.697000	0.40408	4.371000	0.59523	2.058000	0.61347	0.383000	0.25322	TAT		PASS	0.313	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		104	46	104	46	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204380189	204380189	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:204380189G>A	ENST00000367188.4	-	1	730	c.351C>T	c.(349-351)gcC>gcT	p.A117A	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	117					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.A117A(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCGCTGTGGGGGCGGCTGGTT	0.577																																						uc001hav.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(349-351)GCC>GCT		protein phosphatase 1, regulatory subunit 15B							69.0	80.0	76.0					1																	204380189		2203	4300	6503	SO:0001819	synonymous_variant	84919				regulation of translation			g.chr1:204380189G>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.351C>T	1.37:g.204380189G>A							p.A117A	NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	756	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		117					Q53GQ4|Q658M2|Q6P156|Q96SN1	Silent	SNP	ENST00000367188.4	37	c.351C>T	CCDS1445.1																																																																																				PASS	0.577	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		98	198	98	198	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204588804	204588804	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:204588804G>A	ENST00000367175.1	-	1	2529	c.317C>T	c.(316-318)tCg>tTg	p.S106L	LRRN2_ENST00000367176.3_Missense_Mutation_p.S106L|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Missense_Mutation_p.S106L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	106					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S106L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCGGGCATCCGAAAAGCTGTT	0.602																																						uc001hbe.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(316-318)TCG>TTG		leucine rich repeat neuronal 2 precursor							101.0	100.0	100.0					1																	204588804		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204588804G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.317C>T	1.37:g.204588804G>A	ENSP00000356143:p.Ser106Leu					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.S106L|LRRN2_uc009xbf.1_Missense_Mutation_p.S106L|MDM4_uc001hbc.2_Intron	p.S106L	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	705	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		106			LRR 2.|Extracellular (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.317C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421586	0.43020	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.27256	1.68;1.68;1.68	5.67	5.67	0.87782	.	0.214630	0.23530	N	0.047193	T	0.52419	0.1733	M	0.79258	2.445	0.09310	N	0.999998	D	0.65815	0.995	P	0.61477	0.889	T	0.49312	-0.8953	10	0.72032	D	0.01	.	19.4225	0.94727	0.0:0.0:1.0:0.0	.	106	O75325	LRRN2_HUMAN	L	106	ENSP00000356144:S106L;ENSP00000356145:S106L;ENSP00000356143:S106L	ENSP00000356143:S106L	S	-	2	0	LRRN2	202855427	0.999000	0.42202	0.176000	0.23000	0.614000	0.37383	3.100000	0.50275	2.684000	0.91462	0.650000	0.86243	TCG		PASS	0.602	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		123	160	123	160	---	---	---	---
C1orf186	440712	broad.mit.edu	37	1	206239444	206239444	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:206239444T>A	ENST00000331555.5	-	6	1092	c.454A>T	c.(454-456)Agt>Tgt	p.S152C		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	152						integral component of membrane (GO:0016021)		p.S152C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TACCAGAAACTGGGCTTGTGT	0.418																																						uc001hdt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)AGT>TGT		hypothetical protein LOC440712							124.0	111.0	116.0					1																	206239444		2203	4300	6503	SO:0001583	missense	440712					integral to membrane		g.chr1:206239444T>A	AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.454A>T	1.37:g.206239444T>A	ENSP00000356093:p.Ser152Cys						p.S152C	NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0754)		6	1093	-			152						Missense_Mutation	SNP	ENST00000331555.5	37	c.454A>T	CCDS30995.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.310605	0.23821	.	.	ENSG00000196533	ENST00000331555	.	.	.	4.87	-1.69	0.08186	.	1.076460	0.07325	N	0.878316	T	0.20941	0.0504	N	0.19112	0.55	0.09310	N	1	P	0.37548	0.599	B	0.35688	0.208	T	0.21280	-1.0250	9	0.72032	D	0.01	-22.3013	4.9453	0.13985	0.0:0.3791:0.1711:0.4498	.	152	Q6ZWK4	CA186_HUMAN	C	152	.	ENSP00000356093:S152C	S	-	1	0	C1orf186	204406067	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.023000	0.12456	-0.346000	0.08312	-0.263000	0.10527	AGT		PASS	0.418	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088002.1	NM_001007544		63	20	63	20	---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212798339	212798339	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:212798339C>A	ENST00000294829.3	+	1	551	c.120C>A	c.(118-120)ttC>ttA	p.F40L	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	40						nucleus (GO:0005634)		p.F40L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACGATATATTCAAGTATGCAC	0.493																																						uc001hjk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(118-120)TTC>TTA		hypothetical protein LOC149647							168.0	152.0	158.0					1																	212798339		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798339C>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.120C>A	1.37:g.212798339C>A	ENSP00000294829:p.Phe40Leu					uc010pth.1_Intron	p.F40L	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	524	+			40					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.120C>A	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395155	0.62066	.	.	ENSG00000162771	ENST00000294829	T	0.06933	3.24	4.57	2.67	0.31697	.	0.087877	0.48286	D	0.000186	T	0.18045	0.0433	L	0.51853	1.615	0.24286	N	0.995185	D	0.89917	1.0	D	0.80764	0.994	T	0.02437	-1.1159	10	0.45353	T	0.12	-22.028	7.2017	0.25885	0.0:0.7957:0.0:0.2043	.	40	Q8IYT1	FA71A_HUMAN	L	40	ENSP00000294829:F40L	ENSP00000294829:F40L	F	+	3	2	FAM71A	210864962	0.617000	0.27043	0.167000	0.22817	0.926000	0.56050	0.761000	0.26489	0.650000	0.30769	0.585000	0.79938	TTC		PASS	0.493	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		109	46	109	46	---	---	---	---
TGFB2	7042	broad.mit.edu	37	1	218607483	218607483	+	Silent	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:218607483G>C	ENST00000366930.4	+	3	1037	c.570G>C	c.(568-570)gtG>gtC	p.V190V	TGFB2_ENST00000366929.4_Silent_p.V218V|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	190					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)	p.V218V(1)|p.V190V(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCAAAGTTGTGAAAACAAGAG	0.453																																						uc001hlm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(568-570)GTG>GTC		transforming growth factor, beta 2 isoform 2							183.0	172.0	176.0					1																	218607483		2203	4300	6503	SO:0001819	synonymous_variant	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218607483G>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.570G>C	1.37:g.218607483G>C						TGFB2_uc001hln.2_Silent_p.V218V|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA	p.V190V	NM_003238	NP_003229	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	3	1223	+			190					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Silent	SNP	ENST00000366930.4	37	c.570G>C	CCDS1521.1																																																																																				PASS	0.453	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		56	282	56	282	---	---	---	---
NVL	4931	broad.mit.edu	37	1	224420909	224420909	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:224420909C>T	ENST00000281701.6	-	21	2708	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	NVL_ENST00000361463.3_3'UTR|NVL_ENST00000340871.4_Missense_Mutation_p.E628K|NVL_ENST00000469075.1_Missense_Mutation_p.E726K|NVL_ENST00000482491.1_Missense_Mutation_p.E541K|NVL_ENST00000391875.2_Missense_Mutation_p.E711K	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	817						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E817K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACCTTTTTCATTTCCACTC	0.383																																						uc001hok.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2449-2451)GAA>AAA		nuclear VCP-like isoform 1							116.0	107.0	110.0					1																	224420909		2203	4300	6503	SO:0001583	missense	4931					aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	g.chr1:224420909C>T	U78772	CCDS1541.1, CCDS1542.1, CCDS58062.1, CCDS58063.1	1q41-q42.2	2010-04-21			ENSG00000143748	ENSG00000143748		"""ATPases / AAA-type"""	8070	protein-coding gene	gene with protein product	"""Nuclear valosin-containing protein-like"", ""nuclear VCP-like protein"""	602426				9286697	Standard	NM_002533		Approved		uc001hok.3	O15381	OTTHUMG00000037536	ENST00000281701.6:c.2449G>A	1.37:g.224420909C>T	ENSP00000281701:p.Glu817Lys					NVL_uc001hol.2_Missense_Mutation_p.E711K|NVL_uc010pvd.1_Missense_Mutation_p.E726K|NVL_uc010pve.1_Missense_Mutation_p.E628K|NVL_uc010pvf.1_RNA	p.E817K	NM_002533	NP_002524	O15381	NVL_HUMAN		GBM - Glioblastoma multiforme(131;0.00501)	21	2492	-			817					B4DMC4|B4DP98|Q96EM7	Missense_Mutation	SNP	ENST00000281701.6	37	c.2449G>A	CCDS1541.1	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825217	0.16749	.	.	ENSG00000143748	ENST00000281701;ENST00000391875;ENST00000469075;ENST00000482491;ENST00000340871	D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62	5.69	2.37	0.29283	.	1.211400	0.05300	N	0.522739	D	0.91925	0.7443	N	0.05510	-0.035	0.19945	N	0.999944	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	D	0.84513	0.0623	10	0.07325	T	0.83	-1.2337	8.1981	0.31409	0.0:0.7116:0.0:0.2884	.	628;726;817	B4DMC4;B4DP98;O15381	.;.;NVL_HUMAN	K	817;711;726;541;628	ENSP00000281701:E817K;ENSP00000375747:E711K;ENSP00000417826:E726K;ENSP00000417213:E541K;ENSP00000341362:E628K	ENSP00000281701:E817K	E	-	1	0	NVL	222487532	0.001000	0.12720	0.002000	0.10522	0.866000	0.49608	1.063000	0.30567	0.764000	0.33197	0.655000	0.94253	GAA		PASS	0.383	NVL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091453.2	NM_002533		14	119	14	119	---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247151459	247151459	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:247151459C>T	ENST00000339986.7	-	4	505	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.E120K	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	120					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E120K(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CGTAATTTCTCAAGACAACAT	0.408																																						uc009xgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)GAG>AAG		zinc finger protein SBZF3							182.0	175.0	177.0					1																	247151459		1896	4111	6007	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151459C>T		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.358G>A	1.37:g.247151459C>T	ENSP00000341236:p.Glu120Lys					ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Missense_Mutation_p.E120K|ZNF695_uc001iby.2_Intron|ZNF695_uc001icc.2_Missense_Mutation_p.E108K	p.E120K	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	503	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	120					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.358G>A	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.564331	0.27915	.	.	ENSG00000197472	ENST00000487338;ENST00000391780;ENST00000339986	T;T	0.06528	5.8;3.29	0.459	0.459	0.16678	.	.	.	.	.	T	0.07548	0.0190	L	0.55481	1.735	0.22562	N	0.998984	B;B;B	0.31503	0.047;0.326;0.147	B;B;B	0.34180	0.011;0.177;0.091	T	0.31971	-0.9924	9	0.45353	T	0.12	.	6.6488	0.22951	0.0:0.9998:0.0:2.0E-4	.	120;108;120	Q8IW36;F2Z2N8;Q8IW36-1	ZN695_HUMAN;.;.	K	120	ENSP00000429736:E120K;ENSP00000341236:E120K	ENSP00000428213:E108K	E	-	1	0	ZNF695	245218082	0.007000	0.16637	0.098000	0.21074	0.423000	0.31445	-0.214000	0.09292	0.479000	0.27511	0.195000	0.17529	GAG		PASS	0.408	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		6	375	6	375	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247599379	247599379	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:247599379A>T	ENST00000336119.3	+	6	3352	c.2606A>T	c.(2605-2607)gAc>gTc	p.D869V	NLRP3_ENST00000391828.3_Missense_Mutation_p.D869V|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.D812V	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	869					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.D869V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCCTTGGGAGACTCAGGAGTC	0.473																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2605-2607)GAC>GTC		NLR family, pyrin domain containing 3 isoform a							112.0	103.0	106.0					1																	247599379		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247599379A>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2606A>T	1.37:g.247599379A>T	ENSP00000337383:p.Asp869Val					NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Missense_Mutation_p.D869V|NLRP3_uc001icw.2_Missense_Mutation_p.D812V|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Missense_Mutation_p.D847V	p.D869V	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		8	2744	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	869			LRR 5.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2606A>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	a	12.67	2.008768	0.35415	.	.	ENSG00000162711	ENST00000391828;ENST00000336119;ENST00000391827	T;T;T	0.51817	0.69;0.69;0.69	3.63	3.63	0.41609	.	0.000000	0.38058	N	0.001828	T	0.67107	0.2858	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	0.999;0.992;1.0	D;P;D	0.71414	0.914;0.697;0.973	T	0.71331	-0.4625	10	0.72032	D	0.01	.	8.999	0.36069	1.0:0.0:0.0:0.0	.	849;812;869	B7ZKS9;Q96P20-4;Q96P20	.;.;NALP3_HUMAN	V	869;869;812	ENSP00000375704:D869V;ENSP00000337383:D869V;ENSP00000375703:D812V	ENSP00000337383:D869V	D	+	2	0	NLRP3	245666002	0.980000	0.34600	0.890000	0.34922	0.010000	0.07245	2.615000	0.46368	1.903000	0.55091	0.439000	0.28862	GAC		PASS	0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		24	88	24	88	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248028112	248028112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:248028112G>T	ENST00000366481.3	+	3	670	c.622G>T	c.(622-624)Gag>Tag	p.E208*		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	208						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E208*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGCGGAGGAGCGAGCGAC	0.632																																						uc001ido.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(622-624)GAG>TAG		tripartite motif-containing 58							43.0	40.0	41.0					1																	248028112		2203	4300	6503	SO:0001587	stop_gained	25893					intracellular	zinc ion binding	g.chr1:248028112G>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.622G>T	1.37:g.248028112G>T	ENSP00000355437:p.Glu208*						p.E208*	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	670	+	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)	all_cancers(173;0.0286)	208			Potential.		Q6B0H9	Nonsense_Mutation	SNP	ENST00000366481.3	37	c.622G>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511831	0.64522	.	.	ENSG00000162722	ENST00000366481	.	.	.	4.35	4.35	0.52113	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.613	0.45434	0.0:0.1951:0.8049:0.0	.	.	.	.	X	208	.	ENSP00000355437:E208X	E	+	1	0	TRIM58	246094735	1.000000	0.71417	0.933000	0.37362	0.018000	0.09664	7.380000	0.79704	2.413000	0.81919	0.655000	0.94253	GAG		PASS	0.632	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		25	58	25	58	---	---	---	---
OR2L2	26246	broad.mit.edu	37	1	248202041	248202041	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:248202041C>T	ENST00000366479.2	+	1	568	c.472C>T	c.(472-474)Cac>Tac	p.H158Y	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H158Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTCTTGTGCTCACACAGTATA	0.428																																						uc001idw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(472-474)CAC>TAC		olfactory receptor, family 2, subfamily L,							192.0	173.0	180.0					1																	248202041		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202041C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.472C>T	1.37:g.248202041C>T	ENSP00000355435:p.His158Tyr					OR2L13_uc001ids.2_Intron	p.H158Y	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	568	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		158			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.472C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.417183	0.25552	.	.	ENSG00000203663	ENST00000366479	T	0.00267	8.38	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34460	U	0.003946	T	0.00356	0.0011	M	0.74647	2.275	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.38802	-0.9644	10	0.06625	T	0.88	.	6.1824	0.20478	0.0:0.8441:0.0:0.1559	.	158	Q8NH16	OR2L2_HUMAN	Y	158	ENSP00000355435:H158Y	ENSP00000355435:H158Y	H	+	1	0	OR2L2	246268664	0.000000	0.05858	0.126000	0.21872	0.081000	0.17604	-0.709000	0.05030	0.897000	0.36392	0.194000	0.17425	CAC		PASS	0.428	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		152	66	152	66	---	---	---	---
OR2T3	343173	broad.mit.edu	37	1	248637193	248637193	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:248637193G>C	ENST00000359594.2	+	1	567	c.542G>C	c.(541-543)aGt>aCt	p.S181T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S181T(1)|p.C184fs*2(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAATCCTGAGTTTTTTCTGT	0.522																																						uc001iel.1																			2	Substitution - Missense(1)|Insertion - Frameshift(1)		ovary(1)|lung(1)	skin(1)	1						c.(541-543)AGT>ACT		olfactory receptor, family 2, subfamily T,							63.0	57.0	59.0					1																	248637193		2165	4274	6439	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637193G>C		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.542G>C	1.37:g.248637193G>C	ENSP00000352604:p.Ser181Thr						p.S181T	NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	542	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		181			Extracellular (Potential).		B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.542G>C	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	6.772	0.511288	0.12944	.	.	ENSG00000196539	ENST00000359594	T	0.00123	8.7	2.37	1.17	0.20885	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.49126	1.545	0.09310	N	1	B	0.19935	0.04	B	0.25759	0.063	T	0.30119	-0.9989	9	0.87932	D	0	.	6.1292	0.20195	0.855:0.0:0.145:0.0	.	181	Q8NH03	OR2T3_HUMAN	T	181	ENSP00000352604:S181T	ENSP00000352604:S181T	S	+	2	0	OR2T3	246703816	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	0.733000	0.26087	0.011000	0.14865	0.186000	0.17326	AGT		PASS	0.522	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		154	63	154	63	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685741	248685741	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:248685741G>A	ENST00000343414.4	+	1	826	c.794G>A	c.(793-795)aGg>aAg	p.R265K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265K(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCGGCCAATAGGAGATCCAAA	0.443																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(793-795)AGG>AAG		olfactory receptor, family 2, subfamily G,							109.0	111.0	110.0					1																	248685741		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685741G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.794G>A	1.37:g.248685741G>A	ENSP00000341291:p.Arg265Lys						p.R265K	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	794	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	265			Extracellular (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.794G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	10.60	1.395711	0.25205	.	.	ENSG00000188558	ENST00000343414	T	0.00063	8.78	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	U	0.000082	T	0.00073	0.0002	N	0.03903	-0.33	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41124	-0.9526	10	0.33141	T	0.24	.	14.6536	0.68817	0.0:0.0:1.0:0.0	.	265	Q5TZ20	OR2G6_HUMAN	K	265	ENSP00000341291:R265K	ENSP00000341291:R265K	R	+	2	0	OR2G6	246752364	0.000000	0.05858	0.184000	0.23157	0.400000	0.30750	-0.064000	0.11636	1.964000	0.57103	0.400000	0.26472	AGG		PASS	0.443	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		25	139	25	139	---	---	---	---
OR14I1	401994	broad.mit.edu	37	1	248845393	248845393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:248845393G>T	ENST00000342623.3	-	1	236	c.213C>A	c.(211-213)taC>taA	p.Y71*		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y71*(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGACTGAGATGTAGCACAGAT	0.478																																						uc001ieu.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(211-213)TAC>TAA		olfactory receptor, family 14, subfamily I,							139.0	117.0	124.0					1																	248845393		2203	4300	6503	SO:0001587	stop_gained	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248845393G>T		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.213C>A	1.37:g.248845393G>T	ENSP00000339726:p.Tyr71*						p.Y71*	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	213	-			71			Helical; Name=2; (Potential).			Nonsense_Mutation	SNP	ENST00000342623.3	37	c.213C>A	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	20.8	4.051706	0.75960	.	.	ENSG00000189181	ENST00000342623	.	.	.	3.15	-0.265	0.12946	.	0.161290	0.29106	N	0.013128	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.524	0.00617	0.2582:0.1904:0.3577:0.1938	.	.	.	.	X	71	.	ENSP00000339726:Y71X	Y	-	3	2	OR14I1	246912016	0.000000	0.05858	0.001000	0.08648	0.655000	0.38815	-1.297000	0.02759	0.161000	0.19458	0.536000	0.68110	TAC		PASS	0.478	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		30	22	30	22	---	---	---	---
ACP1	52	broad.mit.edu	37	2	272235	272236	+	Intron	DNP	GG	GG	CT			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:272235_272236GG>CT	ENST00000272065.5	+	3	324				ACP1_ENST00000484464.1_Intron|ACP1_ENST00000272067.6_Missense_Mutation_p.R54P|ACP1_ENST00000439645.2_Missense_Mutation_p.R54P|ACP1_ENST00000405233.1_Missense_Mutation_p.G64L|ACP1_ENST00000407983.3_Missense_Mutation_p.G106L	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.R54R(2)|p.R54P(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	AACGTGGGCCGGTCCCCAGACC	0.5																																						uc002qwg.2																			4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(3)|endometrium(1)	skin(1)	1						c.(160-162)CGG>CCG|c.(160-162)CGG>CGT		acid phosphatase 1, soluble isoform b																																				SO:0001627	intron_variant	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:272235G>C|g.chr2:272236G>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	Exception_encountered	2.37:g.272235_272236delinsCT						ACP1_uc002qwd.2_Missense_Mutation_p.G106R|ACP1_uc002qwe.3_RNA|ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Intron|ACP1_uc002qwd.2_Missense_Mutation_p.G106V|ACP1_uc002qwe.3_RNA|ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Intron	p.R54P|p.R54R	NM_007099	NP_009030	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	3	257|258	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	54					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Missense_Mutation|Silent	SNP	ENST00000272065.5	37	c.161G>C|c.162G>T	CCDS1639.1																																																																																				PASS	0.500	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			8|7	16	7	16	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1947066	1947066	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:1947066C>A	ENST00000399161.2	-	9	940	c.193G>T	c.(193-195)Gat>Tat	p.D65Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D65Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	65					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.D65Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCTGTTTATCTTGTGTTTTT	0.433																																						uc002qxe.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(193-195)GAT>TAT		myelin transcription factor 1-like							64.0	55.0	58.0					2																	1947066		1911	4126	6037	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1947066C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.193G>T	2.37:g.1947066C>A	ENSP00000382114:p.Asp65Tyr					MYT1L_uc002qxd.2_Missense_Mutation_p.D65Y	p.D65Y	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	9	1020	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	65					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.193G>T		.	.	.	.	.	.	.	.	.	.	C	19.01	3.743974	0.69418	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.53640	0.61;0.61	5.46	5.46	0.80206	.	0.058680	0.64402	D	0.000003	T	0.47655	0.1457	N	0.19112	0.55	0.80722	D	1	P;P	0.46142	0.799;0.873	B;P	0.49999	0.424;0.628	T	0.52283	-0.8596	10	0.72032	D	0.01	-39.3063	19.3255	0.94260	0.0:1.0:0.0:0.0	.	65;65	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	65	ENSP00000382114:D65Y;ENSP00000396103:D65Y	ENSP00000295067:D65Y	D	-	1	0	MYT1L	1926073	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.831000	0.75324	2.571000	0.86741	0.557000	0.71058	GAT		PASS	0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		11	2	11	2	---	---	---	---
EHD3	30845	broad.mit.edu	37	2	31467261	31467261	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:31467261G>A	ENST00000322054.5	+	2	634	c.349G>A	c.(349-351)Gat>Aat	p.D117N	EHD3_ENST00000541626.1_Missense_Mutation_p.D117N	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	117	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.D117N(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCTGGTGGTGGATCCCAAGAA	0.552																																						uc002rnu.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(2)	2						c.(349-351)GAT>AAT		EH-domain containing 3							121.0	93.0	102.0					2																	31467261		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31467261G>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.349G>A	2.37:g.31467261G>A	ENSP00000327116:p.Asp117Asn					EHD3_uc010ymt.1_Missense_Mutation_p.D117N	p.D117N	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			2	957	+	Acute lymphoblastic leukemia(172;0.155)		117					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.349G>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	G	35	5.534645	0.96460	.	.	ENSG00000013016	ENST00000541626;ENST00000322054	D;D	0.97114	-4.25;-4.25	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	M	0.91872	3.25	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.97110	1.0;0.986	D	0.99246	1.0886	10	0.62326	D	0.03	-22.6712	19.8471	0.96713	0.0:0.0:1.0:0.0	.	117;117	B4DFR5;Q9NZN3	.;EHD3_HUMAN	N	117	ENSP00000440685:D117N;ENSP00000327116:D117N	ENSP00000327116:D117N	D	+	1	0	EHD3	31320765	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.688000	0.91661	0.655000	0.94253	GAT		PASS	0.552	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		47	28	47	28	---	---	---	---
FAM98A	25940	broad.mit.edu	37	2	33810284	33810284	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:33810284C>T	ENST00000238823.8	-	8	1256	c.1116G>A	c.(1114-1116)ggG>ggA	p.G372G	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Silent_p.G177G			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	373	Gly-rich.						poly(A) RNA binding (GO:0044822)	p.G372G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCTTCCTCCCCCTCGGCCAC	0.562																																						uc002rpa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1114-1116)GGG>GGA		hypothetical protein LOC25940							221.0	180.0	194.0					2																	33810284		2203	4300	6503	SO:0001819	synonymous_variant	25940							g.chr2:33810284C>T		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1116G>A	2.37:g.33810284C>T						FAM98A_uc010yne.1_Silent_p.G177G|FAM98A_uc010ynd.1_Silent_p.G203G|FAM98A_uc002roz.1_Silent_p.G210G	p.G372G	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			8	1190	-	all_hematologic(175;0.115)		373			Gly-rich.		B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	c.1116G>A	CCDS33179.1																																																																																				PASS	0.562	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475		16	134	16	134	---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39250233	39250233	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:39250233T>A	ENST00000426016.1	-	11	1422	c.1336A>T	c.(1336-1338)Atg>Ttg	p.M446L	SOS1_ENST00000402219.2_Missense_Mutation_p.M446L|SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.M446L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	446	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M446L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTCCTTCCATTATAAATTCA	0.388									Noonan syndrome																													uc002rrk.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10						c.(1336-1338)ATG>TTG		son of sevenless homolog 1							121.0	113.0	115.0					2																	39250233		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250233T>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1336A>T	2.37:g.39250233T>A	ENSP00000387784:p.Met446Leu					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.M60L|SOS1_uc002rrl.2_Missense_Mutation_p.M178L	p.M446L	NM_005633	NP_005624	Q07889	SOS1_HUMAN			10	1377	-		all_hematologic(82;0.21)	446			PH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1336A>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	3.148	-0.174835	0.06421	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.73897	-0.79;-0.79;-0.79	5.39	5.39	0.77823	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.61400	0.2344	N	0.17872	0.535	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.002;0.013	T	0.56312	-0.8000	10	0.25751	T	0.34	.	15.7028	0.77555	0.0:0.0:0.0:1.0	.	178;446	F5GX06;Q07889	.;SOS1_HUMAN	L	446;446;178;446;446	ENSP00000387784:M446L;ENSP00000384675:M446L;ENSP00000378479:M446L	ENSP00000263879:M446L	M	-	1	0	SOS1	39103737	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.319000	0.51983	2.171000	0.68590	0.377000	0.23210	ATG		PASS	0.388	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		57	122	57	122	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71892406	71892406	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:71892406G>T	ENST00000258104.3	+	46	5449	c.5172G>T	c.(5170-5172)caG>caT	p.Q1724H	DYSF_ENST00000409582.3_Missense_Mutation_p.Q1762H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q1741H|DYSF_ENST00000409744.1_Missense_Mutation_p.Q1732H|DYSF_ENST00000409366.1_Missense_Mutation_p.Q1746H|DYSF_ENST00000394120.2_Missense_Mutation_p.Q1725H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q1763H|DYSF_ENST00000410041.1_Missense_Mutation_p.Q1742H|DYSF_ENST00000409651.1_Missense_Mutation_p.Q1756H|DYSF_ENST00000413539.2_Missense_Mutation_p.Q1755H|DYSF_ENST00000429174.2_Missense_Mutation_p.Q1745H|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1724					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.Q1724H(1)|p.Q1763H(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TAATGTTTCAGGATAAAGAAT	0.557																																						uc002sie.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(5170-5172)CAG>CAT		dysferlin isoform 8							87.0	85.0	85.0					2																	71892406		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71892406G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5172G>T	2.37:g.71892406G>T	ENSP00000258104:p.Gln1724His					DYSF_uc010feg.2_Missense_Mutation_p.Q1755H|DYSF_uc010feh.2_Missense_Mutation_p.Q1731H|DYSF_uc002sig.3_Missense_Mutation_p.Q1710H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.Q1745H|DYSF_uc010fef.2_Missense_Mutation_p.Q1762H|DYSF_uc010fei.2_Missense_Mutation_p.Q1741H|DYSF_uc010fek.2_Missense_Mutation_p.Q1742H|DYSF_uc010fej.2_Missense_Mutation_p.Q1732H|DYSF_uc010fel.2_Missense_Mutation_p.Q1711H|DYSF_uc010feo.2_Missense_Mutation_p.Q1756H|DYSF_uc010fem.2_Missense_Mutation_p.Q1746H|DYSF_uc010fen.2_Missense_Mutation_p.Q1763H|DYSF_uc002sif.2_Missense_Mutation_p.Q1725H|DYSF_uc010yqy.1_Missense_Mutation_p.Q605H|DYSF_uc010yqz.1_Missense_Mutation_p.Q485H	p.Q1724H	NM_003494	NP_003485	O75923	DYSF_HUMAN			46	5548	+			1724			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.5172G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066875	0.36470	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	5.41	4.54	0.55810	.	0.344786	0.32533	N	0.005978	T	0.74496	0.3724	N	0.22421	0.69	0.28607	N	0.908853	B;B;P;B;B;B;B;B;B;B;B;B;B;B;B	0.35174	0.08;0.002;0.488;0.238;0.238;0.001;0.13;0.001;0.065;0.002;0.0;0.0;0.002;0.348;0.153	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.38264	0.104;0.009;0.269;0.269;0.269;0.016;0.269;0.016;0.269;0.009;0.001;0.009;0.009;0.269;0.139	T	0.71031	-0.4710	10	0.52906	T	0.07	-10.6963	12.2414	0.54544	0.0829:0.0:0.9171:0.0	.	488;1756;1763;1746;1711;1742;1732;1741;1731;1755;1762;1745;1710;1725;1724	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	1755;1741;1762;1745;1724;1756;1725;1732;1746;1763;1742	ENSP00000407046:Q1755H;ENSP00000387137:Q1741H;ENSP00000386547:Q1762H;ENSP00000398305:Q1745H;ENSP00000258104:Q1724H;ENSP00000386683:Q1756H;ENSP00000377678:Q1725H;ENSP00000386285:Q1732H;ENSP00000386512:Q1746H;ENSP00000386881:Q1763H;ENSP00000386617:Q1742H	ENSP00000258104:Q1724H	Q	+	3	2	DYSF	71745914	1.000000	0.71417	0.996000	0.52242	0.685000	0.39939	2.334000	0.43920	1.294000	0.44707	-0.123000	0.14984	CAG		PASS	0.557	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		37	92	37	92	---	---	---	---
M1AP	130951	broad.mit.edu	37	2	74785924	74785924	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:74785924G>T	ENST00000290536.5	-	11	1628	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S	M1AP_ENST00000358434.2_Silent_p.S153S|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Silent_p.S500S|M1AP_ENST00000536235.1_Silent_p.S500S	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	504					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S504S(1)									CTGGCATCTTGGAGGCTCTGC	0.592																																						uc002smy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1510-1512)TCC>TCA		hypothetical protein LOC130951							97.0	95.0	96.0					2																	74785924		2203	4300	6503	SO:0001819	synonymous_variant	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74785924G>T		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1512C>A	2.37:g.74785924G>T						C2orf65_uc010ysa.1_Silent_p.S500S|C2orf65_uc010ffp.2_Silent_p.S153S|C2orf65_uc002smx.2_Silent_p.S256S	p.S504S	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			11	1629	-			504					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Silent	SNP	ENST00000290536.5	37	c.1512C>A	CCDS33229.1																																																																																				PASS	0.592	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		87	55	87	55	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79254169	79254169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:79254169C>T	ENST00000272324.5	+	4	389	c.205C>T	c.(205-207)Cag>Tag	p.Q69*	REG3G_ENST00000393897.2_Nonsense_Mutation_p.Q69*|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	69	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.Q69*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGCTTGCCAGAAGCGGCC	0.547																																						uc002snw.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(205-207)CAG>TAG		regenerating islet-derived 3 gamma precursor							125.0	124.0	124.0					2																	79254169		2203	4300	6503	SO:0001587	stop_gained	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254169C>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.205C>T	2.37:g.79254169C>T	ENSP00000272324:p.Gln69*					REG3G_uc002snx.2_Nonsense_Mutation_p.Q69*|REG3G_uc010ffu.2_Intron	p.Q69*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			4	290	+			69			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Nonsense_Mutation	SNP	ENST00000272324.5	37	c.205C>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.656285	0.47467	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	.	.	.	4.83	3.94	0.45596	.	0.273852	0.26414	N	0.024503	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	10.6122	0.45429	0.192:0.808:0.0:0.0	.	.	.	.	X	69	.	ENSP00000272324:Q69X	Q	+	1	0	REG3G	79107677	1.000000	0.71417	0.999000	0.59377	0.080000	0.17528	1.114000	0.31196	1.375000	0.46248	0.655000	0.94253	CAG		PASS	0.547	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		58	166	58	166	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112536327	112536327	+	Silent	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:112536327G>C	ENST00000341068.3	-	45	6082	c.5310C>G	c.(5308-5310)ctC>ctG	p.L1770L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.L1770L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGAAGAAAAGAGATCCAGAA	0.383																																						uc002thi.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(5308-5310)CTC>CTG		anaphase promoting complex subunit 1							61.0	56.0	58.0					2																	112536327		2200	4297	6497	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112536327G>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5310C>G	2.37:g.112536327G>C							p.L1770L	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			45	5557	-			1770					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.5310C>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727132	0.15439	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.05	1.12	0.20585	.	0.000000	0.44688	D	0.000440	T	0.48768	0.1518	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22312	-1.0220	6	0.25751	T	0.34	-14.0897	5.489	0.16765	0.0769:0.388:0.4024:0.1327	.	.	.	.	V	1305	.	ENSP00000396695:L1305V	L	-	1	0	ANAPC1	112252798	0.690000	0.27699	0.998000	0.56505	0.972000	0.66771	-0.184000	0.09698	-0.020000	0.14032	-1.108000	0.02087	CTT		PASS	0.383	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		20	68	20	68	---	---	---	---
INSIG2	51141	broad.mit.edu	37	2	118865897	118865897	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:118865897G>A	ENST00000245787.4	+	6	883	c.677G>A	c.(676-678)tGa>tAa	p.*226*	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	0					cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.*226*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						CATCAGGAATGAAGAAGGCAA	0.318																																						uc002tlk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(676-678)TGA>TAA		insulin induced protein 2							76.0	80.0	79.0					2																	118865897		2203	4299	6502	SO:0001819	synonymous_variant	51141				ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex		g.chr2:118865897G>A	AF527632	CCDS2122.1	2q14.1	2008-02-05			ENSG00000125629	ENSG00000125629			20452	protein-coding gene	gene with protein product		608660				12242332	Standard	NM_016133		Approved		uc002tlk.3	Q9Y5U4	OTTHUMG00000058518	ENST00000245787.4:c.677G>A	2.37:g.118865897G>A						INSIG2_uc010yye.1_Silent_p.*118*|INSIG2_uc002tll.2_Missense_Mutation_p.E85K	p.*226*	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN			6	883	+			226					A8K5W8|Q8TBI8	Silent	SNP	ENST00000245787.4	37	c.677G>A	CCDS2122.1																																																																																				PASS	0.318	INSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129624.1	NM_016133		16	68	16	68	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122285374	122285374	+	Splice_Site	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:122285374C>G	ENST00000263710.4	-	5	860		c.e5+1		RP11-204L24.2_ENST00000577914.1_RNA|CLASP1_ENST00000397587.3_Splice_Site|CLASP1_ENST00000541377.1_Splice_Site|CLASP1_ENST00000455322.2_Splice_Site|CLASP1_ENST00000409078.3_Splice_Site	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1						axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.?(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCCAGACTTACGCATTGAGTG	0.383																																						uc002tnc.2																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.e5+1		CLIP-associating protein 1 isoform 1							85.0	78.0	80.0					2																	122285374		1907	4113	6020	SO:0001630	splice_region_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122285374C>G	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.470+1G>C	2.37:g.122285374C>G						CLASP1_uc010yyy.1_Splice_Site|CLASP1_uc010yyz.1_Splice_Site_p.A157_splice|CLASP1_uc010yza.1_Splice_Site_p.A157_splice|CLASP1_uc010yzb.1_Splice_Site|CLASP1_uc010yzc.1_Intron|CLASP1_uc002tng.1_Splice_Site_p.A157_splice	p.A157_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			5	860	-	Renal(3;0.0496)							B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Splice_Site	SNP	ENST00000263710.4	37	c.470_splice		.	.	.	.	.	.	.	.	.	.	C	19.21	3.783290	0.70222	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	.	.	.	4.73	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8107	0.57637	0.0:0.9188:0.0:0.0812	.	.	.	.	.	-1	.	.	.	-	.	.	CLASP1	122001844	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.115000	0.77110	1.116000	0.41820	0.591000	0.81541	.		PASS	0.383	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	Intron	39	24	39	24	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128409093	128409093	+	Missense_Mutation	SNP	T	T	A	rs373243972		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:128409093T>A	ENST00000272644.3	+	3	942	c.868T>A	c.(868-870)Tac>Aac	p.Y290N	LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.Y290N|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000544369.1_Missense_Mutation_p.Y290N|LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409455.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	290					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.Y290N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CGTGCTGCACTACCGCAGCCA	0.642																																						uc010yzn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)TAC>AAC		G protein-coupled receptor 17 isoform a							94.0	81.0	85.0					2																	128409093		2203	4300	6503	SO:0001583	missense	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128409093T>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.868T>A	2.37:g.128409093T>A	ENSP00000272644:p.Tyr290Asn					LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.Y290N|GPR17_uc010yzo.1_Missense_Mutation_p.Y262N|GPR17_uc002tpd.2_Missense_Mutation_p.Y262N	p.Y290N	NM_001161415	NP_001154887	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1479	+	Colorectal(110;0.1)	Ovarian(717;0.15)	290			Extracellular (Potential).		A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Missense_Mutation	SNP	ENST00000272644.3	37	c.868T>A	CCDS2148.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.699647	0.48307	.	.	ENSG00000144230	ENST00000544369;ENST00000272644;ENST00000393018	T;T;T	0.37058	1.22;1.22;1.22	5.2	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32102	0.0818	L	0.45137	1.4	0.21445	N	0.999688	P	0.40302	0.712	P	0.45377	0.478	T	0.09952	-1.0651	9	.	.	.	.	5.9035	0.18980	0.1342:0.1008:0.0:0.765	.	290	Q13304	GPR17_HUMAN	N	290	ENSP00000442982:Y290N;ENSP00000272644:Y290N;ENSP00000376741:Y290N	.	Y	+	1	0	GPR17	128125563	0.970000	0.33590	0.155000	0.22561	0.859000	0.49053	2.005000	0.40864	0.321000	0.23259	0.459000	0.35465	TAC		PASS	0.642	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			33	5	33	5	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138373750	138373750	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:138373750C>G	ENST00000409968.1	+	18	3607	c.3429C>G	c.(3427-3429)tgC>tgG	p.C1143W	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.C1146W|THSD7B_ENST00000413152.2_Missense_Mutation_p.C1115W			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1145	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C1146W(1)|p.C1115W(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAGTCATGCGATCCCCACA	0.413																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3340-3342)TGC>TGG		thrombospondin, type I, domain containing 7B							102.0	106.0	105.0					2																	138373750		2056	4198	6254	SO:0001583	missense	80731							g.chr2:138373750C>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3429C>G	2.37:g.138373750C>G	ENSP00000387145:p.Cys1143Trp					THSD7B_uc010zbj.1_Intron	p.C1114W	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	17	3342	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3342C>G		.	.	.	.	.	.	.	.	.	.	C	14.61	2.586061	0.46110	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	D;D;D	0.96491	-4.03;-4.03;-4.03	5.21	1.53	0.23141	.	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96509	0.9377	10	0.87932	D	0	.	8.4602	0.32923	0.0:0.3231:0.0:0.6769	.	1115	C9JKN6	.	W	1143;1146;1115	ENSP00000387145:C1143W;ENSP00000272643:C1146W;ENSP00000413841:C1115W	ENSP00000272643:C1146W	C	+	3	2	THSD7B	138090220	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.482000	0.22276	0.103000	0.17682	-0.302000	0.09304	TGC		PASS	0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		112	17	112	17	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138373770	138373770	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:138373770G>A	ENST00000409968.1	+	18	3627	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1153K|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1122K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1152	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.R1122K(1)|p.R1153K(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACAATGCAGAGAAGAACTCGC	0.418																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3361-3363)AGA>AAA		thrombospondin, type I, domain containing 7B							129.0	136.0	134.0					2																	138373770		2106	4222	6328	SO:0001583	missense	80731							g.chr2:138373770G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3449G>A	2.37:g.138373770G>A	ENSP00000387145:p.Arg1150Lys					THSD7B_uc010zbj.1_Intron	p.R1121K	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	17	3362	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3362G>A		.	.	.	.	.	.	.	.	.	.	G	12.02	1.813437	0.32053	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.51325	0.71;0.71;0.71	5.21	5.21	0.72293	.	0.108676	0.64402	D	0.000009	T	0.43100	0.1232	L	0.50333	1.59	0.80722	D	1	B	0.28900	0.227	B	0.29353	0.101	T	0.39981	-0.9587	10	0.54805	T	0.06	.	12.339	0.55083	0.0:0.2783:0.7217:0.0	.	1122	C9JKN6	.	K	1150;1153;1122	ENSP00000387145:R1150K;ENSP00000272643:R1153K;ENSP00000413841:R1122K	ENSP00000272643:R1153K	R	+	2	0	THSD7B	138090240	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.839000	0.27586	2.708000	0.92522	0.655000	0.94253	AGA		PASS	0.418	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		135	18	135	18	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149227683	149227683	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:149227683G>A	ENST00000407073.1	+	9	3168	c.2171G>A	c.(2170-2172)gGg>gAg	p.G724E	MBD5_ENST00000404807.1_Missense_Mutation_p.G724E	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	724					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.G724E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCGGGTTGTGGGGCCTCAAAT	0.453																																						uc002twm.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2170-2172)GGG>GAG		methyl-CpG binding domain protein 5							92.0	91.0	91.0					2																	149227683		2203	4300	6503	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149227683G>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2171G>A	2.37:g.149227683G>A	ENSP00000386049:p.Gly724Glu					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.G724E|MBD5_uc002twn.1_Missense_Mutation_p.G165E	p.G724E	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3159	+			724					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2171G>A	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.903|9.903	1.207375|1.207375	0.22205|0.22205	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|T	0.49139|0.50277	0.79;0.82|0.75	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000011|0.000011	T|T	0.36331|0.36331	0.0963|0.0963	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999983|0.999983	B;B|.	0.34290|.	0.328;0.447|.	B;B|.	0.35770|.	0.035;0.21|.	T|T	0.33854|0.33854	-0.9852|-0.9852	10|8	0.07990|0.51188	T|T	0.79|0.08	-3.3424|-3.3424	12.8582|12.8582	0.57897|0.57897	0.0:0.0:0.8377:0.1623|0.0:0.0:0.8377:0.1623	.|.	724;724|.	Q9P267-2;Q9P267|.	.;MBD5_HUMAN|.	E|R	724|464	ENSP00000386049:G724E;ENSP00000384672:G724E|ENSP00000393168:G464R	ENSP00000384672:G724E|ENSP00000393168:G464R	G|G	+|+	2|1	0|0	MBD5|MBD5	148944153|148944153	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.392000|4.392000	0.59659|0.59659	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GGG|GGG		PASS	0.453	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			21	67	21	67	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167304128	167304128	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:167304128T>G	ENST00000409855.1	-	11	1507	c.1381A>C	c.(1381-1383)Aag>Cag	p.K461Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	461					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K461Q(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTACCTTCCTTATGTCTGAGA	0.343																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1381-1383)AAG>CAG		sodium channel, voltage-gated, type VII, alpha							220.0	195.0	203.0					2																	167304128		1834	4094	5928	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167304128T>G	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1381A>C	2.37:g.167304128T>G	ENSP00000386796:p.Lys461Gln					SCN7A_uc010fpm.1_RNA	p.K461Q	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			11	1508	-			461						Missense_Mutation	SNP	ENST00000409855.1	37	c.1381A>C	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	t	12.34	1.907742	0.33721	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.96716	-4.08;-4.1	5.13	-2.07	0.07276	.	1.368680	0.04718	N	0.418866	D	0.93184	0.7829	L	0.51422	1.61	0.09310	N	0.999999	B	0.24258	0.1	B	0.21708	0.036	T	0.82843	-0.0257	10	0.39692	T	0.17	.	5.8471	0.18671	0.0:0.3753:0.1427:0.482	.	461	Q01118	SCN7A_HUMAN	Q	461	ENSP00000386796:K461Q;ENSP00000413699:K461Q	ENSP00000259060:K461Q	K	-	1	0	SCN7A	167012374	0.025000	0.19082	0.015000	0.15790	0.910000	0.53928	-0.273000	0.08548	-0.522000	0.06417	0.478000	0.44815	AAG		PASS	0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			103	13	103	13	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179509320	179509320	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:179509320C>G	ENST00000591111.1	-	168	35733	c.35509G>C	c.(35509-35511)Gaa>Caa	p.E11837Q	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E13478Q|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10910Q|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11837	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E10910Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGTTTTTCAGGAACTTTC	0.333																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(32728-32730)GAA>CAA		titin isoform N2-A							99.0	89.0	92.0					2																	179509320		1805	4066	5871	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179509320C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35509G>C	2.37:g.179509320C>G	ENSP00000465570:p.Glu11837Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_Missense_Mutation_p.E177Q	p.E10910Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		167	32952	-			11837					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32728G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.68|14.68	2.606357|2.606357	0.46527|0.46527	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777|ENST00000426232	T|.	0.69561|.	-0.41|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|.	0.56587|.	0.1995|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;D|.	0.71674|.	0.396;0.998|.	B;P|.	0.59115|.	0.099;0.852|.	T|.	0.50197|.	-0.8856|.	9|.	0.87932|.	D|.	0|.	.|.	14.4184|14.4184	0.67165|0.67165	0.0:0.9269:0.0:0.0731|0.0:0.9269:0.0:0.0731	.|.	11837;317|.	Q8WZ42;A2TKE4|.	TITIN_HUMAN;.|.	Q|S	10910;317;317;137|184	ENSP00000343764:E10910Q|.	ENSP00000343764:E10910Q|.	E|X	-|-	1|2	0|2	TTN|TTN	179217565|179217565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.948000|3.948000	0.56660|0.56660	2.838000|2.838000	0.97847|0.97847	0.591000|0.591000	0.81541|0.81541	GAA|TGA		PASS	0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	24	6	24	---	---	---	---
C2orf69	205327	broad.mit.edu	37	2	200790045	200790045	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:200790045T>C	ENST00000319974.5	+	2	777	c.594T>C	c.(592-594)agT>agC	p.S198S	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	198						extracellular region (GO:0005576)		p.S198S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						TTAATTTAAGTCAGAATAGTT	0.343																																						uc010zhb.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(592-594)AGT>AGC		hypothetical protein LOC205327 precursor							59.0	57.0	58.0					2																	200790045		1805	4066	5871	SO:0001819	synonymous_variant	205327					extracellular region		g.chr2:200790045T>C		CCDS46482.1	2q33.1	2008-08-08			ENSG00000178074	ENSG00000178074			26799	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38973"""					12477932	Standard	NM_153689		Approved	FLJ38973	uc010zhb.2	Q8N8R5	OTTHUMG00000154480	ENST00000319974.5:c.594T>C	2.37:g.200790045T>C							p.S198S	NM_153689	NP_710156	Q8N8R5	CB069_HUMAN			2	777	+			198					Q8NE30	Silent	SNP	ENST00000319974.5	37	c.594T>C	CCDS46482.1																																																																																				PASS	0.343	C2orf69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335446.1	NM_153689		149	6	149	6	---	---	---	---
KLF7	8609	broad.mit.edu	37	2	207988717	207988717	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:207988717C>A	ENST00000309446.6	-	2	890	c.514G>T	c.(514-516)Gct>Tct	p.A172S	KLF7_ENST00000458272.1_Intron|KLF7_ENST00000467833.1_Intron|KLF7-IT1_ENST00000428777.1_RNA|KLF7_ENST00000412414.2_Missense_Mutation_p.A144S|KLF7_ENST00000421199.1_Missense_Mutation_p.A139S|KLF7_ENST00000423015.1_Missense_Mutation_p.A172S	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	172					axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A172S(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GAGCTGAGAGCAGCCTTCTTG	0.612																																						uc002vbz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(514-516)GCT>TCT		Kruppel-like factor 7 (ubiquitous)							66.0	63.0	64.0					2																	207988717		2203	4300	6503	SO:0001583	missense	8609				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	g.chr2:207988717C>A	AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.514G>T	2.37:g.207988717C>A	ENSP00000309570:p.Ala172Ser					KLF7_uc002vca.1_Missense_Mutation_p.A172S|KLF7_uc010zix.1_Missense_Mutation_p.A144S	p.A172S	NM_003709	NP_003700	O75840	KLF7_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)	2	836	-			172					B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	Missense_Mutation	SNP	ENST00000309446.6	37	c.514G>T	CCDS2373.1	.	.	.	.	.	.	.	.	.	.	C	3.891	-0.024055	0.07634	.	.	ENSG00000118263	ENST00000309446;ENST00000421199;ENST00000423015;ENST00000412414;ENST00000435602	T;T;T	0.05717	3.4;3.43;3.45	5.68	0.466	0.16716	.	0.310919	0.39407	N	0.001371	T	0.02571	0.0078	N	0.12182	0.205	0.22911	N	0.998572	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.002;0.001	T	0.47262	-0.9131	10	0.07175	T	0.84	.	5.8383	0.18619	0.4221:0.3799:0.0:0.198	.	144;172;172	B7Z4F7;Q96E51;O75840	.;.;KLF7_HUMAN	S	172;139;172;144;144	ENSP00000309570:A172S;ENSP00000387510:A139S;ENSP00000403284:A144S	ENSP00000309570:A172S	A	-	1	0	KLF7	207696962	0.951000	0.32395	0.357000	0.25798	0.812000	0.45895	0.764000	0.26532	0.055000	0.16094	-0.339000	0.08088	GCT		PASS	0.612	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256466.2	NM_003709		110	10	110	10	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216296604	216296604	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:216296604A>T	ENST00000359671.1	-	4	764	c.499T>A	c.(499-501)Tgt>Agt	p.C167S	FN1_ENST00000446046.1_Missense_Mutation_p.C167S|FN1_ENST00000443816.1_Missense_Mutation_p.C167S|FN1_ENST00000354785.4_Missense_Mutation_p.C167S|FN1_ENST00000323926.6_Missense_Mutation_p.C167S|FN1_ENST00000336916.4_Missense_Mutation_p.C167S|FN1_ENST00000346544.3_Missense_Mutation_p.C167S|FN1_ENST00000426059.1_Missense_Mutation_p.C167S|FN1_ENST00000357009.2_Missense_Mutation_p.C167S|FN1_ENST00000421182.1_Missense_Mutation_p.C167S|FN1_ENST00000357867.4_Missense_Mutation_p.C167S|FN1_ENST00000356005.4_Missense_Mutation_p.C167S|FN1_ENST00000345488.5_Missense_Mutation_p.C167S|FN1_ENST00000432072.2_Missense_Mutation_p.C167S			P02751	FINC_HUMAN	fibronectin 1	167	Fibrin- and heparin-binding 1.|Fibronectin type-I 3. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.C167S(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	AGACACACACACTCTAACATG	0.498																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(499-501)TGT>AGT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						274.0	226.0	243.0					2																	216296604		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216296604A>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.499T>A	2.37:g.216296604A>T	ENSP00000352696:p.Cys167Ser					FN1_uc002vfb.2_Missense_Mutation_p.C167S|FN1_uc002vfc.2_Missense_Mutation_p.C167S|FN1_uc002vfd.2_Missense_Mutation_p.C167S|FN1_uc002vfe.2_Missense_Mutation_p.C167S|FN1_uc002vff.2_Missense_Mutation_p.C167S|FN1_uc002vfg.2_Missense_Mutation_p.C167S|FN1_uc002vfh.2_Missense_Mutation_p.C167S|FN1_uc002vfi.2_Missense_Mutation_p.C167S|FN1_uc002vfj.2_Missense_Mutation_p.C167S|FN1_uc002vfl.2_Missense_Mutation_p.C167S	p.C167S	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	765	-		Renal(323;0.127)	167			Fibrin- and heparin-binding 1.|Fibronectin type-I 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.499T>A		.	.	.	.	.	.	.	.	.	.	A	32	5.135197	0.94517	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48;-3.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.96778	0.8948	M	0.67397	2.05	0.80722	D	1	D;D;D;B;D;D;D;D;D;D;D	0.89917	1.0;0.99;0.996;0.051;1.0;1.0;1.0;0.992;1.0;1.0;0.99	D;D;P;B;D;D;D;D;D;D;D	0.91635	0.999;0.991;0.856;0.019;0.996;0.998;0.999;0.93;0.996;0.996;0.991	D	0.97298	0.9929	10	0.87932	D	0	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	167;167;167;167;167;167;167;167;167;167;167	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	167	ENSP00000394423:C167S;ENSP00000323534:C167S;ENSP00000338200:C167S;ENSP00000350534:C167S;ENSP00000346839:C167S;ENSP00000352696:C167S;ENSP00000265312:C167S;ENSP00000273049:C167S;ENSP00000349509:C167S;ENSP00000410422:C167S;ENSP00000415018:C167S;ENSP00000399538:C167S;ENSP00000348285:C167S;ENSP00000398907:C167S	ENSP00000265313:C167S	C	-	1	0	FN1	216004849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.333000	0.79357	0.482000	0.46254	TGT		PASS	0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		222	12	222	12	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216296609	216296609	+	Nonsense_Mutation	SNP	A	A	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:216296609A>C	ENST00000359671.1	-	4	759	c.494T>G	c.(493-495)tTa>tGa	p.L165*	FN1_ENST00000446046.1_Nonsense_Mutation_p.L165*|FN1_ENST00000443816.1_Nonsense_Mutation_p.L165*|FN1_ENST00000354785.4_Nonsense_Mutation_p.L165*|FN1_ENST00000323926.6_Nonsense_Mutation_p.L165*|FN1_ENST00000336916.4_Nonsense_Mutation_p.L165*|FN1_ENST00000346544.3_Nonsense_Mutation_p.L165*|FN1_ENST00000426059.1_Nonsense_Mutation_p.L165*|FN1_ENST00000357009.2_Nonsense_Mutation_p.L165*|FN1_ENST00000421182.1_Nonsense_Mutation_p.L165*|FN1_ENST00000357867.4_Nonsense_Mutation_p.L165*|FN1_ENST00000356005.4_Nonsense_Mutation_p.L165*|FN1_ENST00000345488.5_Nonsense_Mutation_p.L165*|FN1_ENST00000432072.2_Nonsense_Mutation_p.L165*			P02751	FINC_HUMAN	fibronectin 1	165	Fibrin- and heparin-binding 1.|Fibronectin type-I 3. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.L165*(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CACACACTCTAACATGTAACC	0.483																																						uc002vfa.2																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(493-495)TTA>TGA		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						268.0	223.0	238.0					2																	216296609		2203	4300	6503	SO:0001587	stop_gained	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216296609A>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.494T>G	2.37:g.216296609A>C	ENSP00000352696:p.Leu165*					FN1_uc002vfb.2_Nonsense_Mutation_p.L165*|FN1_uc002vfc.2_Nonsense_Mutation_p.L165*|FN1_uc002vfd.2_Nonsense_Mutation_p.L165*|FN1_uc002vfe.2_Nonsense_Mutation_p.L165*|FN1_uc002vff.2_Nonsense_Mutation_p.L165*|FN1_uc002vfg.2_Nonsense_Mutation_p.L165*|FN1_uc002vfh.2_Nonsense_Mutation_p.L165*|FN1_uc002vfi.2_Nonsense_Mutation_p.L165*|FN1_uc002vfj.2_Nonsense_Mutation_p.L165*|FN1_uc002vfl.2_Nonsense_Mutation_p.L165*	p.L165*	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	760	-		Renal(323;0.127)	165			Fibrin- and heparin-binding 1.|Fibronectin type-I 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	ENST00000359671.1	37	c.494T>G		.	.	.	.	.	.	.	.	.	.	A	40	8.505364	0.98841	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	.	.	.	5.78	5.78	0.91487	.	0.000000	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4053	0.83662	1.0:0.0:0.0:0.0	.	.	.	.	X	165	.	ENSP00000265313:L165X	L	-	2	0	FN1	216004854	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	8.910000	0.92685	2.333000	0.79357	0.482000	0.46254	TTA		PASS	0.483	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		233	15	233	15	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219513804	219513804	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:219513804G>A	ENST00000449707.1	-	6	1248	c.827C>T	c.(826-828)aCg>aTg	p.T276M	ZNF142_ENST00000411696.2_Missense_Mutation_p.T276M	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	276					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.T276M(1)|p.T113M(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGCTGCTGCCGTGTGGCTCTT	0.572											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(170;867 1942 8995 15834 18053)	uc002vin.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(1)|skin(1)	4						c.(826-828)ACG>ATG		zinc finger protein 142							26.0	29.0	28.0					2																	219513804		2037	4195	6232	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219513804G>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.827C>T	2.37:g.219513804G>A	ENSP00000408643:p.Thr276Met		OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2259	ZNF142_uc002vil.2_Missense_Mutation_p.T237M|ZNF142_uc010fvt.2_Missense_Mutation_p.T113M|ZNF142_uc002vim.2_Missense_Mutation_p.T113M	p.T276M	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1263	-		Renal(207;0.0474)	276					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.827C>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345533	0.61073	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13089	2.62;2.62	5.08	5.08	0.68730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.291939	0.33075	N	0.005314	T	0.33440	0.0863	M	0.65975	2.015	0.34289	D	0.682988	D;D	0.76494	0.999;0.999	D;D	0.70716	0.938;0.97	T	0.42949	-0.9421	10	0.87932	D	0	-4.8349	12.5182	0.56044	0.0:0.0:0.7294:0.2706	.	276;113	P52746;A8MWU9	ZN142_HUMAN;.	M	276	ENSP00000408643:T276M;ENSP00000398798:T276M	ENSP00000398798:T276M	T	-	2	0	ZNF142	219222048	1.000000	0.71417	0.911000	0.35937	0.794000	0.44872	5.693000	0.68264	2.758000	0.94735	0.563000	0.77884	ACG		PASS	0.572	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	60	7	60	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219878062	219878062	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:219878062C>A	ENST00000341552.5	-	24	3959	c.3876G>T	c.(3874-3876)ccG>ccT	p.P1292P	CCDC108_ENST00000453220.1_Silent_p.P1292P|CCDC108_ENST00000441968.1_Silent_p.P1292P|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1292						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.P1292P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCTGCTCCGGCTTCACTG	0.532																																						uc002vjl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3874-3876)CCG>CCT		coiled-coil domain containing 108 isoform 1							133.0	112.0	119.0					2																	219878062		2202	4299	6501	SO:0001819	synonymous_variant	255101					integral to membrane	structural molecule activity	g.chr2:219878062C>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3876G>T	2.37:g.219878062C>A							p.P1292P	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3960	-		Renal(207;0.0915)	1292					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	ENST00000341552.5	37	c.3876G>T	CCDS2430.2																																																																																				PASS	0.532	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		45	3	45	3	---	---	---	---
ABCB6	10058	broad.mit.edu	37	2	220075486	220075486	+	Missense_Mutation	SNP	C	C	T	rs200561796	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:220075486C>T	ENST00000265316.3	-	16	2519	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	ABCB6_ENST00000439002.2_Missense_Mutation_p.V689I	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	735	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.V735I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAATGGCGACGCGCTGCTTC	0.612													c|||	3	0.000599042	0.0	0.0	5008	,	,		16646	0.003		0.0	False		,,,				2504	0.0					uc002vkc.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(2203-2205)GTC>ATC		ATP-binding cassette, sub-family B, member 6							58.0	57.0	58.0					2																	220075486		2203	4300	6503	SO:0001583	missense	10058				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	g.chr2:220075486C>T	AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2203G>A	2.37:g.220075486C>T	ENSP00000265316:p.Val735Ile					ABCB6_uc010fwe.1_Missense_Mutation_p.V689I	p.V735I	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2480	-		Renal(207;0.0474)	735			ABC transporter.		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	ENST00000265316.3	37	c.2203G>A	CCDS2436.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	36	5.684435	0.96774	.	.	ENSG00000115657	ENST00000265316;ENST00000439002	D;D	0.84442	-1.85;-1.85	5.65	5.65	0.86999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.063173	0.64402	D	0.000005	T	0.82107	0.4965	N	0.01809	-0.71	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.65443	0.892;0.935	D	0.88305	0.2952	10	0.66056	D	0.02	-26.7431	19.3462	0.94363	0.0:1.0:0.0:0.0	.	689;735	Q9NP58-4;Q9NP58	.;ABCB6_HUMAN	I	735;689	ENSP00000265316:V735I;ENSP00000394333:V689I	ENSP00000265316:V735I	V	-	1	0	ABCB6	219783730	0.542000	0.26426	0.477000	0.27303	0.968000	0.65278	1.336000	0.33850	2.660000	0.90430	0.557000	0.71058	GTC		PASS	0.612	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256820.2	NM_005689		13	46	13	46	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220494096	220494096	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:220494096G>T	ENST00000358055.3	+	4	960	c.448G>T	c.(448-450)Gca>Tca	p.A150S	SLC4A3_ENST00000373762.3_Missense_Mutation_p.A150S|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A150S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A150S|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A150S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	150					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A150S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAATCTGAGGCAGAACCTGT	0.637																																						uc002vmp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(448-450)GCA>TCA		solute carrier family 4, anion exchanger, member							27.0	34.0	32.0					2																	220494096		2203	4299	6502	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494096G>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.448G>T	2.37:g.220494096G>T	ENSP00000350756:p.Ala150Ser					SLC4A3_uc002vmn.2_Missense_Mutation_p.A150S|SLC4A3_uc002vmo.3_Missense_Mutation_p.A150S|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'Flank	p.A150S	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	717	+		Renal(207;0.0183)	150			Cytoplasmic.		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.448G>T	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	8.637	0.895045	0.17613	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.01	3.13	0.36017	.	1.636490	0.03041	N	0.153409	T	0.21062	0.0507	N	0.19112	0.55	0.30522	N	0.768365	B;B	0.31817	0.231;0.341	B;B	0.28011	0.039;0.085	T	0.25950	-1.0117	10	0.13108	T	0.6	.	9.1682	0.37065	0.1794:0.0:0.8206:0.0	.	150;150	P48751;P48751-3	B3A3_HUMAN;.	S	150	ENSP00000350756:A150S;ENSP00000362865:A150S;ENSP00000273063:A150S;ENSP00000362867:A150S;ENSP00000314006:A150S	ENSP00000273063:A150S	A	+	1	0	SLC4A3	220202340	0.000000	0.05858	0.963000	0.40424	0.864000	0.49448	-0.078000	0.11375	0.631000	0.30412	0.462000	0.41574	GCA		PASS	0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		27	3	27	3	---	---	---	---
SP140	11262	broad.mit.edu	37	2	231159004	231159004	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:231159004C>T	ENST00000392045.3	+	21	2101	c.1987C>T	c.(1987-1989)Cct>Tct	p.P663S	SP140_ENST00000420434.3_Missense_Mutation_p.P636S|SP140_ENST00000417495.3_Missense_Mutation_p.P549S|SP140_ENST00000343805.6_Missense_Mutation_p.P603S|SP140_ENST00000486687.2_Missense_Mutation_p.P587S|SP140_ENST00000350136.5_Missense_Mutation_p.P532S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	663					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P663S(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTGCCTGATCCTCCAAGAAT	0.363																																						uc002vql.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1987-1989)CCT>TCT		SP140 nuclear body protein isoform 1							135.0	134.0	134.0					2																	231159004		1870	4108	5978	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231159004C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1987C>T	2.37:g.231159004C>T	ENSP00000375899:p.Pro663Ser					SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.P549S|SP140_uc002vqm.2_Missense_Mutation_p.P603S|SP140_uc010fxl.2_Missense_Mutation_p.P636S	p.P663S	NM_007237	NP_009168	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	21	2102	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	663					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1987C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156451	0.38119	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	3.4	3.4	0.38934	SAND domain-like (2);	.	.	.	.	T	0.71264	0.3319	M	0.63843	1.955	0.09310	N	1	P;D;D;P	0.61697	0.659;0.982;0.99;0.799	B;P;P;B	0.58721	0.401;0.61;0.844;0.169	T	0.61098	-0.7131	9	0.87932	D	0	-10.8535	11.066	0.47976	0.0:1.0:0.0:0.0	.	636;549;603;663	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	587;532;663;549;603;636	ENSP00000440107:P587S;ENSP00000345846:P532S;ENSP00000375899:P663S;ENSP00000342096:P603S;ENSP00000398210:P636S	ENSP00000342096:P603S	P	+	1	0	SP140	230867248	0.001000	0.12720	0.024000	0.17045	0.051000	0.14879	0.950000	0.29122	1.877000	0.54381	0.449000	0.29647	CCT		PASS	0.363	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		26	15	26	15	---	---	---	---
DTYMK	1841	broad.mit.edu	37	2	242625274	242625274	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:242625274C>T	ENST00000305784.2	-	2	356	c.149G>A	c.(148-150)gGc>gAc	p.G50D	DTYMK_ENST00000493095.1_5'UTR	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	50					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)	p.G50D(2)		NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CAGAAGTTTGCCGATTTCAGT	0.388																																						uc002wbz.1																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)		0						c.(148-150)GGC>GAC		deoxythymidylate kinase (thymidylate kinase)							139.0	135.0	137.0					2																	242625274		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242625274C>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.149G>A	2.37:g.242625274C>T	ENSP00000304802:p.Gly50Asp					DTYMK_uc010zpa.1_Missense_Mutation_p.G50D|DTYMK_uc010zpb.1_RNA|DTYMK_uc002wca.1_RNA	p.G50D	NM_012145	NP_036277	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	2	178	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	50					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.149G>A	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.846784|4.846784	0.91277|0.91277	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000420144|ENST00000305784	.|T	.|0.62639	.|0.01	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86875|0.86875	0.6038|0.6038	H|H	0.96805|0.96805	3.885|3.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.91331|0.91331	0.5090|0.5090	5|10	.|0.87932	.|D	.|0	-30.7029|-30.7029	19.0388|19.0388	0.92989|0.92989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|50;50	.|B7ZW70;P23919	.|.;KTHY_HUMAN	T|D	7|50	.|ENSP00000304802:G50D	.|ENSP00000304802:G50D	A|G	-|-	1|2	0|0	DTYMK|DTYMK	242273947|242273947	1.000000|1.000000	0.71417|0.71417	0.796000|0.796000	0.32109|0.32109	0.873000|0.873000	0.50193|0.50193	6.750000|6.750000	0.74888|0.74888	2.472000|2.472000	0.83506|0.83506	0.655000|0.655000	0.94253|0.94253	GCA|GGC		PASS	0.388	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		4	120	4	120	---	---	---	---
FGD5	152273	broad.mit.edu	37	3	14941937	14941938	+	Missense_Mutation	DNP	CC	CC	TT	rs546298225		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:14941937_14941938CC>TT	ENST00000285046.5	+	8	3292_3293	c.3182_3183CC>TT	c.(3181-3183)tCC>tTT	p.S1061F	FGD5_ENST00000543601.1_Missense_Mutation_p.S820F|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1061	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.S1061F(2)|p.S820F(2)|p.S1061S(1)|p.S820S(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGTCCGGACTCCGCCGAGTACG	0.584																																						uc003bzc.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(3)|kidney(1)|pancreas(1)	5						c.(3181-3183)TCC>TTC|c.(3181-3183)TCC>TCT		FYVE, RhoGEF and PH domain containing 5																																				SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14941937C>T|g.chr3:14941938C>T	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	Exception_encountered	3.37:g.14941937_14941938delinsTT	ENSP00000285046:p.Ser1061Phe					FGD5_uc011avk.1_Missense_Mutation_p.S1061F|FGD5_uc003bzd.2_Missense_Mutation_p.S139F|FGD5_uc011avk.1_Silent_p.S1061S|FGD5_uc003bzd.2_Silent_p.S139S	p.S1061F|p.S1061S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			8	3292|3293	+			1061			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation|Silent	SNP	ENST00000285046.5	37	c.3182C>T|c.3183C>T	CCDS46767.1																																																																																				PASS	0.584	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		9	14	9	14	---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20082244	20082244	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:20082244A>G	ENST00000263754.4	+	1	730	c.275A>G	c.(274-276)gAg>gGg	p.E92G	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	92					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E92G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AAGAAACTGGAGAAACTCGGA	0.711																																						uc003cbq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(274-276)GAG>GGG		K(lysine) acetyltransferase 2B							14.0	16.0	16.0					3																	20082244		2077	4111	6188	SO:0001583	missense	8850				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding	g.chr3:20082244A>G	U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.275A>G	3.37:g.20082244A>G	ENSP00000263754:p.Glu92Gly						p.E92G	NM_003884	NP_003875	Q92831	KAT2B_HUMAN			1	721	+			92					Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	c.275A>G	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037046	0.75617	.	.	ENSG00000114166	ENST00000263754	T	0.23348	1.91	3.03	3.03	0.35002	PCAF, N-terminal (1);	0.000000	0.64402	U	0.000001	T	0.31389	0.0795	M	0.66939	2.045	0.50813	D	0.999893	P	0.42337	0.776	P	0.45913	0.497	T	0.05209	-1.0899	10	0.31617	T	0.26	-7.9725	10.4432	0.44477	1.0:0.0:0.0:0.0	.	92	Q92831	KAT2B_HUMAN	G	92	ENSP00000263754:E92G	ENSP00000263754:E92G	E	+	2	0	KAT2B	20057248	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.861000	0.62969	1.151000	0.42436	0.374000	0.22700	GAG		PASS	0.711	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884		16	3	16	3	---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35748492	35748492	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:35748492T>C	ENST00000187397.4	+	10	1169	c.713T>C	c.(712-714)tTa>tCa	p.L238S	ARPP21_ENST00000458225.1_Missense_Mutation_p.L238S|ARPP21_ENST00000444190.1_Missense_Mutation_p.L238S|ARPP21_ENST00000417925.1_Missense_Mutation_p.L238S|ARPP21_ENST00000337271.5_Missense_Mutation_p.L238S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	238	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.L238S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGTGAACATTTAAAAGATGAA	0.333																																						uc003cgb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(712-714)TTA>TCA		cyclic AMP-regulated phosphoprotein, 21 kD							94.0	101.0	99.0					3																	35748492		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35748492T>C	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.713T>C	3.37:g.35748492T>C	ENSP00000187397:p.Leu238Ser					ARPP21_uc003cga.2_Missense_Mutation_p.L238S|ARPP21_uc011axy.1_Missense_Mutation_p.L238S|ARPP21_uc003cgf.2_Missense_Mutation_p.L74S	p.L238S	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			10	977	+			238					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.713T>C	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	T	16.43	3.120384	0.56613	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	6.06	6.06	0.98353	.	0.167136	0.42420	D	0.000713	T	0.48732	0.1516	L	0.29908	0.895	0.47476	D	0.999433	B;D;B	0.56968	0.443;0.978;0.443	B;P;B	0.50754	0.245;0.649;0.245	T	0.50617	-0.8807	10	0.62326	D	0.03	-9.9661	16.6245	0.84952	0.0:0.0:0.0:1.0	.	238;238;238	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	S	238	ENSP00000414351:L238S;ENSP00000337792:L238S;ENSP00000405276:L238S;ENSP00000187397:L238S;ENSP00000412326:L238S	ENSP00000187397:L238S	L	+	2	0	ARPP21	35723496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.318000	0.79029	2.323000	0.78572	0.528000	0.53228	TTA		PASS	0.333	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		72	18	72	18	---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47957950	47957950	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:47957950G>C	ENST00000360240.6	-	7	1885	c.1367C>G	c.(1366-1368)aCc>aGc	p.T456S	MAP4_ENST00000395734.3_Missense_Mutation_p.T456S|MAP4_ENST00000426837.2_Missense_Mutation_p.T473S|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	456	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.T456S(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GATCACGTTGGTTTCCGGGGG	0.517																																						uc003csb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1366-1368)ACC>AGC		microtubule-associated protein 4 isoform 1							71.0	63.0	66.0					3																	47957950		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47957950G>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1367C>G	3.37:g.47957950G>C	ENSP00000353375:p.Thr456Ser					MAP4_uc003csc.3_Missense_Mutation_p.T456S|MAP4_uc011bbf.1_Missense_Mutation_p.T433S|MAP4_uc003csf.3_Missense_Mutation_p.T473S	p.T456S	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	7	1893	-			456			12.|17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.1367C>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456233	0.26161	.	.	ENSG00000047849	ENST00000395734;ENST00000426837;ENST00000360240	T;T;T	0.08193	3.14;3.12;3.14	3.95	3.06	0.35304	.	.	.	.	.	T	0.10294	0.0252	M	0.66939	2.045	0.22620	N	0.998929	B;B;B	0.32350	0.366;0.314;0.101	B;B;B	0.29267	0.064;0.1;0.028	T	0.18178	-1.0345	9	0.22109	T	0.4	-1.1861	11.1943	0.48704	0.0:0.0:0.8149:0.1851	.	433;456;456	C9JFC3;P27816-6;P27816	.;.;MAP4_HUMAN	S	456;473;456	ENSP00000379083:T456S;ENSP00000407602:T473S;ENSP00000353375:T456S	ENSP00000353375:T456S	T	-	2	0	MAP4	47932954	0.800000	0.28916	0.003000	0.11579	0.003000	0.03518	3.001000	0.49488	1.205000	0.43262	-0.314000	0.08810	ACC		PASS	0.517	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		51	7	51	7	---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50403720	50403720	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:50403720T>C	ENST00000479441.1	-	32	2707	c.2708A>G	c.(2707-2709)aAc>aGc	p.N903S	XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.N896S|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.N904S|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.N896S|XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.N896S|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.N903S|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.N827S|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.N897S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	903					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N896S(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGGTTCTGGTTTGACAGCAC	0.547																																						uc003daq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2707-2709)AAC>AGC		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						210.0	194.0	200.0					3																	50403720		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50403720T>C	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2708A>G	3.37:g.50403720T>C	ENSP00000418081:p.Asn903Ser					CACNA2D2_uc003dap.2_Missense_Mutation_p.N896S|CACNA2D2_uc003dao.2_5'Flank	p.N903S	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	32	2746	-			903			Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.2708A>G	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165859	0.78339	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.87970	0.6312	M	0.79258	2.445	0.51482	D	0.999922	D;D	0.69078	0.974;0.997	P;D	0.63877	0.742;0.919	D	0.88043	0.2782	10	0.41790	T	0.15	-25.3015	14.0683	0.64844	0.0:0.0:0.0:1.0	.	903;896	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	S	904;897;896;827;903;896;896;903	ENSP00000407393:N904S;ENSP00000404631:N897S;ENSP00000266039:N896S;ENSP00000354228:N827S;ENSP00000390526:N903S;ENSP00000378519:N896S;ENSP00000390329:N896S;ENSP00000418081:N903S	ENSP00000266039:N896S	N	-	2	0	CACNA2D2	50378724	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.557000	0.82243	1.803000	0.52742	0.459000	0.35465	AAC		PASS	0.547	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		91	23	91	23	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97851543	97851543	+	Splice_Site	SNP	T	T	C	rs150362159	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:97851543T>C	ENST00000354565.2	+	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1T(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGTGAGGACATGGAAGAGGAA	0.398													T|||	5	0.000998403	0.0	0.0	5008	,	,		20990	0.0		0.0	False		,,,				2504	0.0051					uc011bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1-3)ATG>ACG		olfactory receptor, family 5, subfamily H,		T	THR/MET	0,4404		0,0,2202	84.0	85.0	84.0		2	2.5	0.0	3	dbSNP_134	84	1,8581		0,1,4290	no	missense	OR5H1	NM_001005338.1	81	0,1,6492	CC,CT,TT		0.0117,0.0,0.0077	probably-damaging	1/314	97851543	1,12985	2202	4291	6493	SO:0001630	splice_region_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851543T>C	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.2-1T>C	3.37:g.97851543T>C							p.M1T	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	2	+			1			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.2T>C	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809450	0.31961	0.0	1.17E-4	ENSG00000231192	ENST00000354565	T	0.01406	4.93	3.63	2.47	0.30058	.	0.144353	0.32802	N	0.005630	T	0.04272	0.0118	.	.	.	0.80722	D	1	D	0.56746	0.977	P	0.57468	0.821	T	0.36866	-0.9730	9	0.87932	D	0	.	6.8849	0.24193	0.0:0.1173:0.0:0.8827	.	1	A6NKK0	OR5H1_HUMAN	T	1	ENSP00000346575:M1T	ENSP00000346575:M1T	M	+	2	0	OR5H1	99334233	1.000000	0.71417	0.019000	0.16419	0.063000	0.16089	2.793000	0.47845	0.470000	0.27294	0.164000	0.16699	ATG		PASS	0.398	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	Missense_Mutation	82	97	82	97	---	---	---	---
OR5H1	26341	broad.mit.edu	37	3	97852069	97852069	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:97852069C>G	ENST00000354565.2	+	1	528	c.528C>G	c.(526-528)caC>caG	p.H176Q	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H176Q(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TAGTACATCACATTTACTGTG	0.318																																						uc011bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(526-528)CAC>CAG		olfactory receptor, family 5, subfamily H,							25.0	31.0	29.0					3																	97852069		2187	4266	6453	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852069C>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.528C>G	3.37:g.97852069C>G	ENSP00000346575:p.His176Gln						p.H176Q	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			1	528	+			176			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000354565.2	37	c.528C>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	C	8.339	0.828352	0.16749	.	.	ENSG00000231192	ENST00000354565	T	0.00084	8.75	3.57	1.68	0.24146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00412	0.0013	M	0.84585	2.705	0.19775	N	0.999957	D	0.71674	0.998	D	0.74674	0.984	T	0.34850	-0.9812	10	0.87932	D	0	.	7.6827	0.28524	0.0:0.7726:0.0:0.2274	.	176	A6NKK0	OR5H1_HUMAN	Q	176	ENSP00000346575:H176Q	ENSP00000346575:H176Q	H	+	3	2	OR5H1	99334759	0.040000	0.19996	0.998000	0.56505	0.057000	0.15508	-0.925000	0.03992	0.697000	0.31718	0.195000	0.17529	CAC		PASS	0.318	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		36	45	36	45	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108102447	108102447	+	Missense_Mutation	SNP	T	T	C	rs200773679		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:108102447T>C	ENST00000273353.3	-	41	5877	c.5821A>G	c.(5821-5823)Aaa>Gaa	p.K1941E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1941						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K1941E(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CATACCTTTTTCCCAAACTCT	0.358																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(5821-5823)AAA>GAA		myosin, heavy polypeptide 15							197.0	185.0	189.0					3																	108102447		1851	4097	5948	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108102447T>C	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5821A>G	3.37:g.108102447T>C	ENSP00000273353:p.Lys1941Glu						p.K1941E	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			41	5878	-			1941			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.5821A>G	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	T	6.342	0.431174	0.12045	.	.	ENSG00000144821	ENST00000273353	D	0.85955	-2.05	5.69	0.61	0.17580	.	.	.	.	.	T	0.75162	0.3812	L	0.41356	1.27	0.09310	N	0.999999	P	0.41313	0.745	B	0.33454	0.164	T	0.61598	-0.7030	9	0.51188	T	0.08	.	9.3564	0.38168	0.0:0.3517:0.0:0.6483	.	1941	Q9Y2K3	MYH15_HUMAN	E	1941	ENSP00000273353:K1941E	ENSP00000273353:K1941E	K	-	1	0	MYH15	109585137	0.015000	0.18098	0.010000	0.14722	0.105000	0.19272	0.301000	0.19174	-0.105000	0.12132	-0.326000	0.08463	AAA		PASS	0.358	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		30	142	30	142	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109049619	109049619	+	Nonsense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:109049619G>C	ENST00000335658.6	-	5	485	c.431C>G	c.(430-432)tCa>tGa	p.S144*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	144					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S144*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTTTTGCAATGATTTCCGGAT	0.403																																						uc003dxq.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(430-432)TCA>TGA		developmental pluripotency associated 4							67.0	70.0	69.0					3																	109049619		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109049619G>C	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.431C>G	3.37:g.109049619G>C	ENSP00000335306:p.Ser144*					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.S144*	p.S144*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	486	-			144					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.431C>G	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627816	0.46944	.	.	ENSG00000121570	ENST00000335658	.	.	.	3.82	-7.65	0.01281	.	7.150670	0.00166	N	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3268	0.3938	0.00415	0.2332:0.2699:0.2258:0.2711	.	.	.	.	X	144	.	.	S	-	2	0	DPPA4	110532309	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.535000	0.02210	-2.804000	0.00350	0.462000	0.41574	TCA		PASS	0.403	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		59	62	59	62	---	---	---	---
PARP9	83666	broad.mit.edu	37	3	122259335	122259335	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:122259335G>A	ENST00000360356.2	-	8	2081	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	PARP9_ENST00000477522.2_Silent_p.G583G|PARP9_ENST00000471785.1_Silent_p.G583G|PARP9_ENST00000492382.1_Silent_p.G163G|PARP9_ENST00000462315.1_Silent_p.G583G	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	618					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.G618G(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)		AGCGCCAAAGGCCTCGCTCCT	0.438																																						uc010hri.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|prostate(1)|skin(1)	4						c.(1852-1854)GGC>GGT		poly (ADP-ribose) polymerase family, member 9							66.0	63.0	64.0					3																	122259335		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122259335G>A	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.1854C>T	3.37:g.122259335G>A						PARP9_uc003eff.3_Silent_p.G583G|PARP9_uc011bjs.1_Silent_p.G583G|PARP9_uc003efg.2_Silent_p.G163G|PARP9_uc003efi.2_Silent_p.G583G|PARP9_uc003efh.2_Silent_p.G618G|PARP9_uc003efj.2_Silent_p.G583G	p.G618G	NM_001146102	NP_001139574	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	8	1999	-			618					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.1854C>T	CCDS3014.1																																																																																				PASS	0.438	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		34	42	34	42	---	---	---	---
SEMA5B	54437	broad.mit.edu	37	3	122632069	122632069	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:122632069C>T	ENST00000357599.3	-	17	2869	c.2483G>A	c.(2482-2484)gGc>gAc	p.G828D	SEMA5B_ENST00000195173.4_Missense_Mutation_p.G827D|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G882D	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	828					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.G882D(1)|p.G828D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGAGCCGGAGCCGTCCGCGGG	0.756																																						uc003efz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(2482-2484)GGC>GAC		semaphorin 5B isoform 1							9.0	12.0	11.0					3																	122632069		2065	4049	6114	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122632069C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.2483G>A	3.37:g.122632069C>T	ENSP00000350215:p.Gly828Asp					SEMA5B_uc011bju.1_Missense_Mutation_p.G770D|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.G828D|SEMA5B_uc010hro.1_Missense_Mutation_p.G770D|SEMA5B_uc003efy.1_5'Flank	p.G828D	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	17	2787	-			828			Extracellular (Potential).		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.2483G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191081	0.78902	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.37058	1.22;1.22;1.26;1.31	4.64	4.64	0.57946	.	0.229124	0.44097	D	0.000493	T	0.50684	0.1630	M	0.79693	2.465	0.80722	D	1	P;P;P	0.48911	0.846;0.691;0.917	P;B;P	0.47864	0.559;0.323;0.45	T	0.61292	-0.7092	10	0.72032	D	0.01	.	16.6644	0.85248	0.0:1.0:0.0:0.0	.	770;828;828	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	D	828;827;770;882;828	ENSP00000350215:G828D;ENSP00000195173:G827D;ENSP00000389588:G882D;ENSP00000377208:G828D	ENSP00000195173:G827D	G	-	2	0	SEMA5B	124114759	1.000000	0.71417	0.936000	0.37596	0.122000	0.20287	7.569000	0.82380	2.407000	0.81776	0.655000	0.94253	GGC		PASS	0.756	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		11	12	11	12	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125856685	125856685	+	Missense_Mutation	SNP	C	C	T	rs370745999		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:125856685C>T	ENST00000393434.2	-	10	1544	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D399N|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D298N|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D399N|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D409N	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	399					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.D399N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCCTCATCGTCCCCTCGC	0.557																																						uc003eim.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(1195-1197)GAT>AAT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)	C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	137.0	101.0	113.0		1195	0.6	0.0	3		113	0,8600		0,0,4300	no	missense	ALDH1L1	NM_012190.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	399/903	125856685	1,13005	2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125856685C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1195G>A	3.37:g.125856685C>T	ENSP00000377083:p.Asp399Asn					ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.D298N|ALDH1L1_uc003eio.2_Missense_Mutation_p.D101N|ALDH1L1_uc010hsf.1_Missense_Mutation_p.D425N	p.D399N	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	10	1385	-			399					B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.1195G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122561	0.37436	2.27E-4	0.0	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.4	0.583	0.17417	Acyl carrier protein-like (1);	0.116646	0.56097	N	0.000037	T	0.35711	0.0941	L	0.53249	1.67	0.80722	D	1	P;B;B	0.47302	0.893;0.109;0.109	B;B;B	0.42653	0.394;0.02;0.02	T	0.13124	-1.0521	10	0.62326	D	0.03	.	8.2356	0.31625	0.0:0.6502:0.0:0.3498	.	298;451;399	E9PBX3;Q59G10;O75891	.;.;AL1L1_HUMAN	N	409;399;298;399;399	ENSP00000273450:D409N;ENSP00000420293:D399N;ENSP00000395881:D298N;ENSP00000377083:D399N;ENSP00000377081:D399N	ENSP00000273450:D409N	D	-	1	0	ALDH1L1	127339375	0.998000	0.40836	0.001000	0.08648	0.000000	0.00434	3.333000	0.52090	-0.010000	0.14271	-0.781000	0.03364	GAT		PASS	0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		10	83	10	83	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134911454	134911454	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:134911454T>A	ENST00000398015.3	+	11	2289	c.1919T>A	c.(1918-1920)cTg>cAg	p.L640Q	EPHB1_ENST00000493838.1_Missense_Mutation_p.L201Q	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	640	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.L640Q(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CGTTTGAAACTGCCAGGCAAG	0.522																																						uc003eqt.2																			2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1918-1920)CTG>CAG		ephrin receptor EphB1 precursor							66.0	71.0	69.0					3																	134911454		2150	4289	6439	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134911454T>A	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1919T>A	3.37:g.134911454T>A	ENSP00000381097:p.Leu640Gln					EPHB1_uc003equ.2_Missense_Mutation_p.L201Q	p.L640Q	NM_004441	NP_004432	P54762	EPHB1_HUMAN			11	2139	+			640			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1919T>A	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157122	0.57259	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	D;D	0.82344	-1.6;-1.6	5.25	5.25	0.73442	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.078453	0.50627	D	0.000108	D	0.85566	0.5726	L	0.33137	0.985	0.80722	D	1	D	0.67145	0.996	D	0.65987	0.94	D	0.85973	0.1478	10	0.45353	T	0.12	.	15.1475	0.72667	0.0:0.0:0.0:1.0	.	640	P54762	EPHB1_HUMAN	Q	640;201	ENSP00000381097:L640Q;ENSP00000419574:L201Q	ENSP00000381097:L640Q	L	+	2	0	EPHB1	136394144	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.252000	0.72447	1.992000	0.58205	0.459000	0.35465	CTG		PASS	0.522	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		17	20	17	20	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137483941	137483941	+	Silent	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:137483941C>G	ENST00000306087.1	+	1	363	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	105					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L105L(1)		large_intestine(2)|lung(12)	14						CGGACCCGCTCAAGGCGGCTG	0.687																																						uc003erm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CTC>CTG		SRY-box 14							66.0	74.0	71.0					3																	137483941		2203	4300	6503	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483941C>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.315C>G	3.37:g.137483941C>G							p.L105L	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	363	+			105					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.315C>G	CCDS3094.1																																																																																				PASS	0.687	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		39	41	39	41	---	---	---	---
CHST2	9435	broad.mit.edu	37	3	142840409	142840409	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:142840409G>T	ENST00000309575.3	+	2	2135	c.751G>T	c.(751-753)Ggc>Tgc	p.G251C		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	251					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.G251C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GGGCATCTTCGGCGCAGCCAC	0.652																																						uc003evm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(751-753)GGC>TGC		carbohydrate (N-acetylglucosamine-6-O)							21.0	26.0	24.0					3																	142840409		2202	4298	6500	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840409G>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.751G>T	3.37:g.142840409G>T	ENSP00000307911:p.Gly251Cys						p.G251C	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN			2	1640	+			251			Lumenal (Potential).		D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.751G>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268062	0.59540	.	.	ENSG00000175040	ENST00000309575	D	0.96427	-4.01	4.17	4.17	0.49024	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000004	D	0.97611	0.9217	M	0.71581	2.175	0.54753	D	0.99998	D	0.89917	1.0	D	0.97110	1.0	D	0.97276	0.9914	10	0.36615	T	0.2	-23.4338	16.6656	0.85252	0.0:0.0:1.0:0.0	.	251	Q9Y4C5	CHST2_HUMAN	C	251	ENSP00000307911:G251C	ENSP00000307911:G251C	G	+	1	0	CHST2	144323099	1.000000	0.71417	0.749000	0.31150	0.690000	0.40134	6.521000	0.73778	2.152000	0.67230	0.407000	0.27541	GGC		PASS	0.652	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		32	38	32	38	---	---	---	---
P2RY14	9934	broad.mit.edu	37	3	150931768	150931768	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:150931768C>G	ENST00000309170.3	-	3	649	c.337G>C	c.(337-339)Ggg>Cgg	p.G113R	P2RY14_ENST00000424796.2_Missense_Mutation_p.G113R|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)	p.G113R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGATGAGCCCAAAGAACACA	0.458																																						uc003eyr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|lung(1)	4						c.(337-339)GGG>CGG		P2Y14 receptor							67.0	60.0	62.0					3																	150931768		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931768C>G	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.337G>C	3.37:g.150931768C>G	ENSP00000308361:p.Gly113Arg					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.G113R	p.G113R	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	815	-			113			Helical; Name=3; (Potential).		Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.337G>C	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111939	0.77210	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.71817	-0.6;-0.6	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.076913	0.53938	N	0.000045	D	0.87111	0.6096	M	0.86502	2.82	0.45097	D	0.998117	D	0.89917	1.0	D	0.91635	0.999	D	0.87784	0.2614	10	0.59425	D	0.04	-20.078	20.0589	0.97667	0.0:1.0:0.0:0.0	.	113	Q15391	P2Y14_HUMAN	R	113	ENSP00000308361:G113R;ENSP00000408733:G113R	ENSP00000308361:G113R	G	-	1	0	P2RY14	152414458	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	4.671000	0.61590	2.732000	0.93576	0.650000	0.86243	GGG		PASS	0.458	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		33	79	33	79	---	---	---	---
MLF1	4291	broad.mit.edu	37	3	158322912	158322912	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:158322912T>C	ENST00000355893.5	+	7	866	c.728T>C	c.(727-729)aTt>aCt	p.I243T	MLF1_ENST00000478894.2_Missense_Mutation_p.I233T|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000484955.1_Missense_Mutation_p.I218T|MLF1_ENST00000482628.1_Missense_Mutation_p.I218T|MLF1_ENST00000392822.3_Missense_Mutation_p.I274T|MLF1_ENST00000359117.5_Missense_Mutation_p.I218T|MLF1_ENST00000469452.1_Missense_Mutation_p.I175T|MLF1_ENST00000471745.1_Missense_Mutation_p.I233T	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	243					cell cycle arrest (GO:0007050)|myeloid progenitor cell differentiation (GO:0002318)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)	p.I274T(1)|p.I243T(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			AGTCCAGCCATTGAACATGGA	0.333			T	NPM1	AML																																	uc003fcb.2				Dom	yes		3	3q25.1	4291	T	myeloid leukemia factor 1			L	NPM1		AML		2	Substitution - Missense(2)		lung(2)		0						c.(727-729)ATT>ACT		myeloid leukemia factor 1 isoform 1							70.0	73.0	72.0					3																	158322912		2203	4300	6503	SO:0001583	missense	4291				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	g.chr3:158322912T>C	L49054	CCDS3182.1, CCDS46945.1, CCDS56286.1, CCDS56287.1, CCDS56288.1	3q25	2008-07-18			ENSG00000178053	ENSG00000178053			7125	protein-coding gene	gene with protein product	"""myeloid leukemia factor 1 variant 1"", ""myeloid leukemia factor 1 variant 2"", ""myeloid leukemia factor 1 variant 3"""	601402				8570204	Standard	NM_022443		Approved		uc003fcb.3	P58340	OTTHUMG00000158775	ENST00000355893.5:c.728T>C	3.37:g.158322912T>C	ENSP00000348157:p.Ile243Thr					MLF1_uc003fbz.2_Missense_Mutation_p.I218T|MLF1_uc003fca.2_Missense_Mutation_p.I218T|MLF1_uc003fbx.2_Missense_Mutation_p.I233T|MLF1_uc003fcc.2_Missense_Mutation_p.I274T|MLF1_uc003fby.2_Missense_Mutation_p.I169T|MLF1_uc010hvx.2_Missense_Mutation_p.I175T	p.I243T	NM_022443	NP_071888	P58340	MLF1_HUMAN	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)		7	865	+		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	243					E9PEU9|Q2TLE3|Q2TLE5|Q8N8F8|Q96MH1	Missense_Mutation	SNP	ENST00000355893.5	37	c.728T>C	CCDS3182.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.806132	0.31961	.	.	ENSG00000178053	ENST00000491767;ENST00000355893;ENST00000484955;ENST00000359117;ENST00000471745;ENST00000469452;ENST00000482628;ENST00000478894;ENST00000392822	T;T;T;T;T;T;T;T;T	0.53640	0.71;0.7;0.68;0.68;0.7;0.68;0.68;0.7;0.61	5.47	4.31	0.51392	.	0.224157	0.35525	N	0.003155	T	0.31451	0.0797	L	0.32530	0.975	0.27627	N	0.948153	P;P;P	0.47106	0.799;0.872;0.89	B;B;B	0.40901	0.212;0.271;0.343	T	0.13176	-1.0519	10	0.09590	T	0.72	-13.3651	8.9667	0.35881	0.0:0.0854:0.0:0.9146	.	175;274;243	Q2TLE5;Q8N8F8;P58340	.;.;MLF1_HUMAN	T	169;243;218;218;233;175;218;233;274	ENSP00000420410:I169T;ENSP00000348157:I243T;ENSP00000417835:I218T;ENSP00000352025:I218T;ENSP00000420134:I233T;ENSP00000418595:I175T;ENSP00000417141:I218T;ENSP00000417777:I233T;ENSP00000376568:I274T	ENSP00000348157:I243T	I	+	2	0	MLF1	159805606	1.000000	0.71417	0.995000	0.50966	0.792000	0.44763	2.628000	0.46477	0.919000	0.36945	0.477000	0.44152	ATT		PASS	0.333	MLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352164.3	NM_022443		68	22	68	22	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167016199	167016199	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:167016199A>T	ENST00000392766.2	-	18	2113	c.1773T>A	c.(1771-1773)taT>taA	p.Y591*	ZBBX_ENST00000392767.2_Nonsense_Mutation_p.Y591*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.Y562*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.Y591*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.Y591*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	591						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y591*(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAAGTCCTTGATATTGTTTTG	0.299																																						uc003fep.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(1771-1773)TAT>TAA		zinc finger, B-box domain containing							133.0	133.0	133.0					3																	167016199		1818	4067	5885	SO:0001587	stop_gained	79740					intracellular	zinc ion binding	g.chr3:167016199A>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1773T>A	3.37:g.167016199A>T	ENSP00000376519:p.Tyr591*					ZBBX_uc011bpc.1_Nonsense_Mutation_p.Y591*|ZBBX_uc003feq.2_Nonsense_Mutation_p.Y562*	p.Y591*	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			18	2096	-			591					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Nonsense_Mutation	SNP	ENST00000392766.2	37	c.1773T>A	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	A	40	8.047294	0.98627	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	.	.	.	4.9	4.9	0.64082	.	0.281524	0.29424	N	0.012188	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1808	11.1941	0.48703	1.0:0.0:0.0:0.0	.	.	.	.	X	591;591;591;591;562	.	ENSP00000305065:Y591X	Y	-	3	2	ZBBX	168498893	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	2.966000	0.49208	1.956000	0.56807	0.482000	0.46254	TAT		PASS	0.299	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		55	264	55	264	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167240178	167240178	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:167240178G>A	ENST00000308378.3	-	12	1948	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F	WDR49_ENST00000476376.1_Missense_Mutation_p.S373F|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	548								p.S548F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTCCTCCTTAGAAAATAAAGA	0.323																																						uc003fev.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1642-1644)TCT>TTT		WD repeat domain 49							87.0	90.0	89.0					3																	167240178		2200	4299	6499	SO:0001583	missense	151790							g.chr3:167240178G>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1643C>T	3.37:g.167240178G>A	ENSP00000311343:p.Ser548Phe					WDR49_uc003feu.1_Missense_Mutation_p.S373F|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.S548F	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			12	1949	-			548					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.1643C>T	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099669	0.20552	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.54866	0.55;1.85	5.23	5.23	0.72850	WD40 repeat-like-containing domain (1);	0.733388	0.13458	N	0.386394	T	0.51295	0.1666	L	0.54323	1.7	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.49224	-0.8962	10	0.72032	D	0.01	.	14.6666	0.68913	0.0:0.0:1.0:0.0	.	548	Q8IV35	WDR49_HUMAN	F	548;373	ENSP00000311343:S548F;ENSP00000420508:S373F	ENSP00000311343:S548F	S	-	2	0	WDR49	168722872	0.995000	0.38212	0.899000	0.35326	0.166000	0.22503	2.843000	0.48238	2.595000	0.87683	0.650000	0.86243	TCT		PASS	0.323	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		5	185	5	185	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168830641	168830641	+	Silent	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:168830641A>G	ENST00000464456.1	-	8	3147	c.1947T>C	c.(1945-1947)acT>acC	p.T649T	MECOM_ENST00000433243.2_Silent_p.T650T|MECOM_ENST00000264674.3_Silent_p.T714T|MECOM_ENST00000468789.1_Silent_p.T649T|MECOM_ENST00000494292.1_Silent_p.T837T|MECOM_ENST00000472280.1_Silent_p.T650T|MECOM_ENST00000392736.3_Silent_p.T649T|MECOM_ENST00000460814.1_Silent_p.T649T	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T649T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CAAGTGGGTCAGTTAGTTTTC	0.348																																						uc003ffi.3																			1	Substitution - coding silent(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(1945-1947)ACT>ACC		MDS1 and EVI1 complex locus isoform b							138.0	150.0	146.0					3																	168830641		2203	4300	6503	SO:0001819	synonymous_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168830641A>G	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1947T>C	3.37:g.168830641A>G						MECOM_uc010hwk.1_Silent_p.T672T|MECOM_uc003ffj.3_Silent_p.T714T|MECOM_uc011bpi.1_Silent_p.T650T|MECOM_uc003ffn.3_Silent_p.T649T|MECOM_uc003ffk.2_Silent_p.T649T|MECOM_uc003ffl.2_Silent_p.T809T|MECOM_uc011bpj.1_Silent_p.T837T|MECOM_uc011bpk.1_Silent_p.T639T|MECOM_uc010hwn.2_Silent_p.T837T	p.T649T	NM_005241	NP_005232	Q03112	EVI1_HUMAN			8	2216	-			649					Q13466|Q6FH90	Silent	SNP	ENST00000464456.1	37	c.1947T>C	CCDS54669.1																																																																																				PASS	0.348	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		54	208	54	208	---	---	---	---
TNFSF10	8743	broad.mit.edu	37	3	172224300	172224300	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:172224300C>A	ENST00000241261.2	-	5	950	c.828G>T	c.(826-828)ggG>ggT	p.G276G	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	276					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.G276G(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTAAAAAGGCCCCAAAAAAAC	0.353																																						uc003fid.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|lung(1)	5						c.(826-828)GGG>GGT		tumor necrosis factor (ligand) superfamily,							55.0	54.0	55.0					3																	172224300		2203	4300	6503	SO:0001819	synonymous_variant	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172224300C>A	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.828G>T	3.37:g.172224300C>A						TNFSF10_uc003fie.2_3'UTR	p.G276G	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		5	923	-	Ovarian(172;0.00197)|Breast(254;0.158)		276			Extracellular (Potential).		A1Y9B3	Silent	SNP	ENST00000241261.2	37	c.828G>T	CCDS3219.1																																																																																				PASS	0.353	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1			101	39	101	39	---	---	---	---
TTC14	151613	broad.mit.edu	37	3	180320683	180320684	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:180320683_180320684GA>TT	ENST00000296015.4	+	2	298_299	c.166_167GA>TT	c.(166-168)GAg>TTg	p.E56L	RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.E56L|TTC14_ENST00000412756.2_Missense_Mutation_p.E56L	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	56							RNA binding (GO:0003723)	p.E56L(1)|p.E56V(1)|p.E56*(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTAAGAAAAGAGAAGAGAGTT	0.381																																						uc003fkk.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(1)	1						c.(166-168)GAG>TAG|c.(166-168)GAG>GTG		tetratricopeptide repeat domain 14 isoform a																																				SO:0001583	missense	151613						RNA binding	g.chr3:180320683G>T|g.chr3:180320684A>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	Exception_encountered	3.37:g.180320683_180320684delinsTT	ENSP00000296015:p.Glu56Leu					TTC14_uc003fkl.2_Nonsense_Mutation_p.E56*|TTC14_uc003fkm.2_Nonsense_Mutation_p.E56*|TTC14_uc003fkl.2_Missense_Mutation_p.E56V|TTC14_uc003fkm.2_Missense_Mutation_p.E56V	p.E56*|p.E56V	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		2	298|299	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		56					G5E9X0|Q6UWJ7|Q8TF22	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000296015.4	37	c.166G>T|c.167A>T	CCDS3237.1																																																																																				PASS	0.381	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		12|14	81|82	12	81	---	---	---	---
AHSG	197	broad.mit.edu	37	3	186338466	186338466	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:186338466G>A	ENST00000273784.5	+	7	930	c.854G>A	c.(853-855)gGc>gAc	p.G285D	AHSG_ENST00000411641.2_Missense_Mutation_p.G284D	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	284					acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.G284D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCTCCACTTGGCGCACCTGGA	0.637																																						uc003fqk.3																			1	Substitution - Missense(1)		lung(1)		0						c.(850-852)GGC>GAC		alpha-2-HS-glycoprotein							110.0	114.0	113.0					3																	186338466		2203	4300	6503	SO:0001583	missense	197				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr3:186338466G>A	D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.854G>A	3.37:g.186338466G>A	ENSP00000273784:p.Gly285Asp					AHSG_uc003fql.3_Missense_Mutation_p.G285D|AHSG_uc003fqm.3_Missense_Mutation_p.G283D|AHSG_uc010hyp.2_Missense_Mutation_p.G247D	p.G284D	NM_001622	NP_001613	P02765	FETUA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)	7	932	+	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		284					A8K9N6|B2R7G1|O14961|O14962|Q9P152	Missense_Mutation	SNP	ENST00000273784.5	37	c.851G>A		.	.	.	.	.	.	.	.	.	.	g	6.659	0.490055	0.12702	.	.	ENSG00000145192	ENST00000411641;ENST00000541510;ENST00000273784	T;T	0.04758	3.56;3.56	5.1	-5.11	0.02901	.	3.440500	0.00567	N	0.000296	T	0.04092	0.0114	L	0.31845	0.965	0.09310	N	1	B;B;B	0.16166	0.007;0.016;0.003	B;B;B	0.16289	0.015;0.01;0.004	T	0.41770	-0.9490	10	0.21540	T	0.41	-0.3498	6.5431	0.22390	0.416:0.1531:0.4309:0.0	.	350;284;285	F5H0Q5;P02765;C9JV77	.;FETUA_HUMAN;.	D	284;350;285	ENSP00000393887:G284D;ENSP00000273784:G285D	ENSP00000273784:G285D	G	+	2	0	AHSG	187821160	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.166000	0.03129	-0.487000	0.06735	-0.137000	0.14449	GGC		PASS	0.637	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1	NM_001622		39	258	39	258	---	---	---	---
CLDN1	9076	broad.mit.edu	37	3	190039819	190039819	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:190039819G>A	ENST00000295522.3	-	1	445	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	59					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.T59T(1)		lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		GGATCTGCCCGGTGCTCTGCG	0.627																																						uc003fsh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(175-177)ACC>ACT		claudin 1							87.0	82.0	84.0					3																	190039819		2203	4300	6503	SO:0001819	synonymous_variant	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190039819G>A	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.177C>T	3.37:g.190039819G>A							p.T59T	NM_021101	NP_066924	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	1	397	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		59			Extracellular (Potential).			Silent	SNP	ENST00000295522.3	37	c.177C>T	CCDS3295.1																																																																																				PASS	0.627	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		173	42	173	42	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4190615	4190615	+	Missense_Mutation	SNP	A	A	T	rs147866723		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:4190615A>T	ENST00000296358.4	-	6	1778	c.1754T>A	c.(1753-1755)aTt>aAt	p.I585N		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	585					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.I585N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTTGACCACAATTATCCAGGG	0.468																																						uc003ghp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1753-1755)ATT>AAT		otopetrin 1							62.0	65.0	64.0					4																	4190615		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190615A>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1754T>A	4.37:g.4190615A>T	ENSP00000296358:p.Ile585Asn						p.I585N	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	1784	-			585			Helical; (Potential).		A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1754T>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	a	16.81	3.224686	0.58668	.	.	ENSG00000163982	ENST00000296358	T	0.26373	1.74	3.59	2.4	0.29515	.	0.124287	0.53938	D	0.000046	T	0.36524	0.0970	L	0.55990	1.75	0.41271	D	0.986841	D	0.57899	0.981	P	0.61658	0.892	T	0.09907	-1.0653	10	0.62326	D	0.03	0.1027	6.4736	0.22022	0.8022:0.0:0.1978:0.0	.	585	Q7RTM1	OTOP1_HUMAN	N	585	ENSP00000296358:I585N	ENSP00000296358:I585N	I	-	2	0	OTOP1	4241516	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.450000	0.73477	0.569000	0.29329	0.438000	0.28831	ATT		PASS	0.468	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		11	120	11	120	---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7844926	7844926	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:7844926C>A	ENST00000360265.4	-	4	720	c.486G>T	c.(484-486)cgG>cgT	p.R162R	AFAP1_ENST00000420658.1_Silent_p.R162R|AFAP1_ENST00000358461.2_Silent_p.R162R|AFAP1_ENST00000382543.3_Silent_p.R162R			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	162	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.R162R(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACCGCTTCTTCCGCAGCAGGA	0.547																																						uc003gkg.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(484-486)CGG>CGT		actin filament associated protein 1							102.0	91.0	95.0					4																	7844926		2203	4300	6503	SO:0001819	synonymous_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7844926C>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.486G>T	4.37:g.7844926C>A						AFAP1_uc011bwk.1_Silent_p.R162R	p.R162R	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			5	759	-			162			PH 1.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	c.486G>T	CCDS3397.1																																																																																				PASS	0.547	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		30	82	30	82	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22438155	22438155	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:22438155T>C	ENST00000334304.5	-	9	1464	c.1195A>G	c.(1195-1197)Aga>Gga	p.R399G	GPR125_ENST00000502482.1_Missense_Mutation_p.R399G|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Missense_Mutation_p.R173G	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	399					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R399G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTATCACATCTGCGCCAAGCT	0.448																																						uc003gqm.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1195-1197)AGA>GGA		G protein-coupled receptor 125 precursor							118.0	105.0	109.0					4																	22438155		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22438155T>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1195A>G	4.37:g.22438155T>C	ENSP00000334952:p.Arg399Gly					GPR125_uc010ieo.1_Missense_Mutation_p.R273G|GPR125_uc003gqn.1_Missense_Mutation_p.R173G|GPR125_uc003gqo.2_Missense_Mutation_p.R399G	p.R399G	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			9	1460	-		Breast(46;0.198)	399			Extracellular (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1195A>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	15.58	2.874392	0.51695	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.50548	0.74;0.74;0.74	6.04	-3.8	0.04307	GPCR, family 2, extracellular hormone receptor domain (2);	0.502444	0.23811	N	0.044329	T	0.43700	0.1259	L	0.50333	1.59	0.34950	D	0.751125	B;B;B;B	0.32693	0.234;0.38;0.013;0.042	B;B;B;B	0.35550	0.197;0.205;0.009;0.061	T	0.49826	-0.8898	10	0.66056	D	0.02	-26.8557	19.5661	0.95393	0.0:0.0:0.6661:0.3339	.	274;399;173;399	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	G	399;173;399	ENSP00000334952:R399G;ENSP00000422606:R173G;ENSP00000421006:R399G	ENSP00000334952:R399G	R	-	1	2	GPR125	22047253	0.862000	0.29867	0.668000	0.29813	0.982000	0.71751	0.247000	0.18179	-0.858000	0.04110	0.460000	0.39030	AGA		PASS	0.448	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			17	24	17	24	---	---	---	---
APBB2	323	broad.mit.edu	37	4	40936686	40936686	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:40936686G>A	ENST00000295974.8	-	9	1764	c.1135C>T	c.(1135-1137)Ccc>Tcc	p.P379S	APBB2_ENST00000513140.1_Missense_Mutation_p.P358S|APBB2_ENST00000508593.1_Missense_Mutation_p.P380S|APBB2_ENST00000506352.1_Missense_Mutation_p.P358S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	379					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.P358S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TTTAAACTGGGGTCCGGGTTA	0.433																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1135-1137)CCC>TCC		amyloid beta A4 precursor protein-binding,							74.0	69.0	70.0					4																	40936686		1875	4116	5991	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40936686G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1135C>T	4.37:g.40936686G>A	ENSP00000295974:p.Pro379Ser					APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.P358S|APBB2_uc003gvn.2_Missense_Mutation_p.P380S|APBB2_uc011byt.1_Missense_Mutation_p.P341S	p.P379S	NM_173075	NP_775098	Q92870	APBB2_HUMAN			9	1765	-			379					B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1135C>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.428110|4.428110	0.83667|0.83667	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	.|T;T;T;T	.|0.14516	.|2.51;2.51;2.51;2.5	5.68|5.68	4.83|4.83	0.62350|0.62350	.|.	0.049565|0.049565	0.85682|0.85682	D|N	0.000000|0.000000	T|T	0.22244|0.22244	0.0536|0.0536	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.69078	.|0.997;0.941;0.965;0.966	.|D;P;P;P	.|0.75484	.|0.986;0.493;0.69;0.493	T|T	0.05649|0.05649	-1.0872|-1.0872	6|10	.|0.22109	.|T	.|0.4	-22.4473|-22.4473	14.6914|14.6914	0.69087|0.69087	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	.|341;380;358;379	.|B4DJ88;E9PG87;Q92870-2;Q92870	.|.;.;.;APBB2_HUMAN	L|S	348|379;378;358;380;358	.|ENSP00000295974:P379S;ENSP00000426018:P358S;ENSP00000427211:P380S;ENSP00000421539:P358S	.|ENSP00000295974:P379S	P|P	-|-	2|1	0|0	APBB2|APBB2	40631443|40631443	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	8.780000|8.780000	0.91799|0.91799	1.530000|1.530000	0.49136|0.49136	0.591000|0.591000	0.81541|0.81541	CCC|CCC		PASS	0.433	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		9	25	9	25	---	---	---	---
GABRA4	2557	broad.mit.edu	37	4	46930469	46930469	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:46930469C>G	ENST00000264318.3	-	9	2420	c.1438G>C	c.(1438-1440)Gga>Cga	p.G480R		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	480					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G480R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGTCTTGATCCAAACACGTGA	0.493																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1438-1440)GGA>CGA		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						135.0	124.0	128.0					4																	46930469		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930469C>G		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1438G>C	4.37:g.46930469C>G	ENSP00000264318:p.Gly480Arg						p.G480R	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1577	-			480			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1438G>C	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898249	0.52227	.	.	ENSG00000109158	ENST00000264318	T	0.81163	-1.46	5.82	4.93	0.64822	Neurotransmitter-gated ion-channel transmembrane domain (2);	21.939300	0.00166	N	0.000000	D	0.87561	0.6208	L	0.43152	1.355	0.44660	D	0.997644	D	0.89917	1.0	D	0.79108	0.992	T	0.74581	-0.3618	10	0.22109	T	0.4	.	13.8702	0.63615	0.0:0.8478:0.1522:0.0	.	480	P48169	GBRA4_HUMAN	R	480	ENSP00000264318:G480R	ENSP00000264318:G480R	G	-	1	0	GABRA4	46625226	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.991000	0.63883	2.765000	0.95021	0.650000	0.86243	GGA		PASS	0.493	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			37	63	37	63	---	---	---	---
PPAT	5471	broad.mit.edu	37	4	57269556	57269556	+	Silent	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:57269556A>G	ENST00000264220.2	-	4	551	c.414T>C	c.(412-414)caT>caC	p.H138H	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	138	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.H138H(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	GACCAATACCATGACGCAGAA	0.453																																						uc003hbr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(412-414)CAT>CAC		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						59.0	58.0	58.0					4																	57269556		2203	4300	6503	SO:0001819	synonymous_variant	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57269556A>G		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.414T>C	4.37:g.57269556A>G							p.H138H	NM_002703	NP_002694	Q06203	PUR1_HUMAN			4	616	-	Glioma(25;0.08)|all_neural(26;0.101)		138			Glutamine amidotransferase type-2.			Silent	SNP	ENST00000264220.2	37	c.414T>C	CCDS3505.1																																																																																				PASS	0.453	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		26	20	26	20	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65147199	65147199	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:65147199G>A	ENST00000381210.3	-	10	1021	c.911C>T	c.(910-912)aCc>aTc	p.T304I	TECRL_ENST00000507440.1_Missense_Mutation_p.T304I	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	304					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.T304I(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TACCTCATAGGTGTAGTTAGG	0.299																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)ACC>ATC		steroid 5 alpha-reductase 2-like 2							91.0	89.0	90.0					4																	65147199		2203	4299	6502	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147199G>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.911C>T	4.37:g.65147199G>A	ENSP00000370607:p.Thr304Ile					TECRL_uc010ihi.2_RNA	p.T304I	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			10	1020	-			304						Missense_Mutation	SNP	ENST00000381210.3	37	c.911C>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219148	0.79464	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000511997	T;T	0.29655	1.56;1.56	5.45	5.45	0.79879	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.051187	0.85682	D	0.000000	T	0.61274	0.2334	M	0.90542	3.125	0.58432	D	0.999992	D	0.76494	0.999	D	0.87578	0.998	T	0.63332	-0.6661	10	0.27785	T	0.31	-13.5136	14.8536	0.70316	0.0:0.0:1.0:0.0	.	304	Q5HYJ1	TECRL_HUMAN	I	304;304;19	ENSP00000426043:T304I;ENSP00000370607:T304I	ENSP00000370607:T304I	T	-	2	0	TECRL	64829794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.870000	0.75526	2.557000	0.86248	0.644000	0.83932	ACC		PASS	0.299	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		27	17	27	17	---	---	---	---
CENPC	1060	broad.mit.edu	37	4	68385091	68385091	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:68385091A>G	ENST00000273853.6	-	6	711	c.461T>C	c.(460-462)tTa>tCa	p.L154S		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	154					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.L154S(1)									GCCAACGGATAAGTAAAATTC	0.353																																						uc003hdd.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(460-462)TTA>TCA		centromere protein C 1							110.0	100.0	103.0					4																	68385091		1821	4102	5923	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68385091A>G	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.461T>C	4.37:g.68385091A>G	ENSP00000273853:p.Leu154Ser					CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.L154S	p.L154S	NM_001812	NP_001803	Q03188	CENPC_HUMAN			6	644	-			154					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.461T>C	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	A	15.82	2.945110	0.53079	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.95	4.95	0.65309	.	0.595377	0.14255	N	0.331202	T	0.47451	0.1446	L	0.55481	1.735	0.30296	N	0.789959	D;D	0.57899	0.981;0.981	P;P	0.49637	0.617;0.617	T	0.53129	-0.8482	9	0.72032	D	0.01	-1.4133	10.9201	0.47158	1.0:0.0:0.0:0.0	.	154;154	Q8IW27;Q03188	.;CENPC_HUMAN	S	154	.	ENSP00000273853:L154S	L	-	2	0	CENPC1	68067686	1.000000	0.71417	0.994000	0.49952	0.436000	0.31835	3.823000	0.55715	2.055000	0.61198	0.482000	0.46254	TTA		PASS	0.353	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			56	49	56	49	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72222840	72222840	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:72222840G>T	ENST00000264485.5	+	6	783	c.666G>T	c.(664-666)cgG>cgT	p.R222R	SLC4A4_ENST00000351898.6_Silent_p.R222R|SLC4A4_ENST00000512686.1_Silent_p.R178R|SLC4A4_ENST00000425175.1_Silent_p.R222R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Silent_p.R178R	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	222					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R178R(1)|p.R222R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CCAACCTTCGGTCCCTGGCTG	0.478																																						uc003hfy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(664-666)CGG>CGT		solute carrier family 4, sodium bicarbonate							130.0	133.0	132.0					4																	72222840		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72222840G>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.666G>T	4.37:g.72222840G>T						SLC4A4_uc010iic.2_Silent_p.R222R|SLC4A4_uc010iib.2_Silent_p.R222R|SLC4A4_uc003hfz.2_Silent_p.R222R|SLC4A4_uc003hgc.3_Silent_p.R178R|SLC4A4_uc003hga.2_Silent_p.R100R|SLC4A4_uc003hgb.3_Silent_p.R178R	p.R222R	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		6	783	+			222			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.666G>T	CCDS43236.1																																																																																				PASS	0.478	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		56	47	56	47	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80954705	80954705	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:80954705T>A	ENST00000307333.7	-	9	719	c.717A>T	c.(715-717)ttA>ttT	p.L239F	ANTXR2_ENST00000403729.2_Missense_Mutation_p.L239F|ANTXR2_ENST00000295465.4_Missense_Mutation_p.L239F|ANTXR2_ENST00000404191.1_Missense_Mutation_p.L162F|ANTXR2_ENST00000346652.6_Intron	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	239					reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.L239F(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CTCTTCCACTTAAGACAATCT	0.353									Juvenile Hyaline Fibromatosis																													uc003hlz.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(715-717)TTA>TTT		anthrax toxin receptor 2 isoform 2							90.0	84.0	86.0					4																	80954705		1856	4094	5950	SO:0001583	missense	118429	Juvenile_Hyaline_Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80954705T>A	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.717A>T	4.37:g.80954705T>A	ENSP00000306185:p.Leu239Phe					ANTXR2_uc003hly.3_Missense_Mutation_p.L239F|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Intron	p.L239F	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN			9	1480	-			239			Extracellular (Potential).		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	c.717A>T	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824833	0.50739	.	.	ENSG00000163297	ENST00000403729;ENST00000404191;ENST00000307333;ENST00000295465	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	5.71	3.97	0.46021	Anthrax toxin receptor, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.71581	2.175	0.39820	D	0.972824	D;D	0.89917	0.998;1.0	D;D	0.72625	0.978;0.963	D	0.90621	0.4559	10	0.38643	T	0.18	-11.9774	8.9107	0.35552	0.0:0.7518:0.0:0.2482	.	239;239	P58335;P58335-4	ANTR2_HUMAN;.	F	239;162;239;239	ENSP00000385575:L239F;ENSP00000384028:L162F;ENSP00000306185:L239F;ENSP00000295465:L239F	ENSP00000295465:L239F	L	-	3	2	ANTXR2	81173729	0.868000	0.29978	0.969000	0.41365	0.891000	0.51852	0.138000	0.16016	0.747000	0.32809	-0.472000	0.04984	TTA		PASS	0.353	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		47	20	47	20	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104511076	104511076	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:104511076G>T	ENST00000304883.2	-	5	1301	c.1161C>A	c.(1159-1161)ctC>ctA	p.L387L	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	387					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.L387L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGTGGTCTTGAGCTCTAGCT	0.493																																						uc003hxe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(1159-1161)CTC>CTA		tachykinin receptor 3							147.0	139.0	142.0					4																	104511076		2203	4300	6503	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104511076G>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1161C>A	4.37:g.104511076G>T							p.L387L	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1304	-		Hepatocellular(203;0.217)	387			Cytoplasmic (Potential).		Q0P510	Silent	SNP	ENST00000304883.2	37	c.1161C>A	CCDS3664.1																																																																																				PASS	0.493	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		29	72	29	72	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114284526	114284526	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:114284526C>G	ENST00000357077.4	+	40	10842	c.10789C>G	c.(10789-10791)Caa>Gaa	p.Q3597E	ANK2_ENST00000510275.2_Missense_Mutation_p.Q164E|ANK2_ENST00000509550.1_Missense_Mutation_p.Q688E|ANK2_ENST00000394537.3_Missense_Mutation_p.Q1512E|ANK2_ENST00000506722.1_Missense_Mutation_p.Q1503E|ANK2_ENST00000264366.6_Missense_Mutation_p.Q3564E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3597	Death 2. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q3597E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTGAGGAGCAAATTCATCA	0.378																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(10789-10791)CAA>GAA		ankyrin 2 isoform 1							91.0	91.0	91.0					4																	114284526		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114284526C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10789C>G	4.37:g.114284526C>G	ENSP00000349588:p.Gln3597Glu					ANK2_uc003ibd.3_Missense_Mutation_p.Q1503E|ANK2_uc003ibf.3_Missense_Mutation_p.Q1512E|ANK2_uc011cgc.1_Missense_Mutation_p.Q688E|ANK2_uc003ibg.3_Missense_Mutation_p.Q496E|ANK2_uc003ibh.3_Missense_Mutation_p.Q186E|ANK2_uc011cgd.1_Missense_Mutation_p.Q899E	p.Q3597E	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	40	10889	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	3564			Death.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.10789C>G	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.04|12.04	1.819966|1.819966	0.32145|0.32145	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|D;D;D;D;D;D;D	.|0.92249	.|-3.0;-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.249477	.|0.28847	.|N	.|0.013944	D|D	0.90246|0.90246	0.6950|0.6950	N|N	0.08118|0.08118	0|0	0.37051|0.37051	D|D	0.897604|0.897604	.|B;B;B;B;D;B	.|0.63880	.|0.004;0.003;0.015;0.0;0.993;0.002	.|B;B;B;B;D;B	.|0.77557	.|0.008;0.007;0.023;0.005;0.99;0.017	D|D	0.84723|0.84723	0.0741|0.0741	5|10	.|0.02654	.|T	.|1	.|.	19.8719|19.8719	0.96853|0.96853	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|688;547;513;1512;3597;1503	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	G|E	513;164|1503;547;1512;3597;3564;1503;688;164;607	.|ENSP00000421067:Q1503E;ENSP00000378044:Q1512E;ENSP00000349588:Q3597E;ENSP00000264366:Q3564E;ENSP00000426944:Q688E;ENSP00000421023:Q164E;ENSP00000422498:Q607E	.|ENSP00000264366:Q3564E	A|Q	+|+	2|1	0|0	ANK2|ANK2	114503975|114503975	0.936000|0.936000	0.31750|0.31750	0.996000|0.996000	0.52242|0.52242	0.960000|0.960000	0.62799|0.62799	1.828000|1.828000	0.39111|0.39111	2.772000|2.772000	0.95346|0.95346	0.650000|0.650000	0.86243|0.86243	GCA|CAA		PASS	0.378	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		29	23	29	23	---	---	---	---
PLRG1	5356	broad.mit.edu	37	4	155467044	155467044	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:155467044T>C	ENST00000499023.2	-	6	562	c.436A>G	c.(436-438)Agt>Ggt	p.S146G	PLRG1_ENST00000393905.2_Missense_Mutation_p.S146G|PLRG1_ENST00000302078.5_Missense_Mutation_p.S137G|RNU6-1285P_ENST00000363480.1_RNA	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	146					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.S146G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CGGTATTCACTTCCACTAGGG	0.428																																						uc003iny.2																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)AGT>GGT		pleiotropic regulator 1 (PRL1 homolog,							62.0	56.0	58.0					4																	155467044		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155467044T>C	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.436A>G	4.37:g.155467044T>C	ENSP00000424417:p.Ser146Gly					PLRG1_uc003inz.2_Missense_Mutation_p.S137G|PLRG1_uc011cil.1_5'UTR	p.S146G	NM_002669	NP_002660	O43660	PLRG1_HUMAN			6	499	-	all_hematologic(180;0.215)	Renal(120;0.0854)	146					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.436A>G	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.636342	0.29068	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.61742	0.08;0.08;0.09	4.87	0.968	0.19680	.	0.537129	0.22048	N	0.065346	T	0.23171	0.0560	N	0.01048	-1.04	0.26801	N	0.969195	B;B	0.14012	0.009;0.0	B;B	0.13407	0.009;0.0	T	0.22277	-1.0221	10	0.32370	T	0.25	-5.5869	7.8044	0.29193	0.0:0.683:0.0:0.317	.	137;146	O43660-2;O43660	.;PLRG1_HUMAN	G	146;146;137;144	ENSP00000424417:S146G;ENSP00000377483:S146G;ENSP00000303191:S137G	ENSP00000303191:S137G	S	-	1	0	PLRG1	155686494	0.988000	0.35896	0.961000	0.40146	0.985000	0.73830	0.514000	0.22786	0.348000	0.23949	0.528000	0.53228	AGT		PASS	0.428	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		17	17	17	17	---	---	---	---
PDGFC	56034	broad.mit.edu	37	4	157732119	157732119	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:157732119C>A	ENST00000502773.1	-	3	855	c.365G>T	c.(364-366)cGc>cTc	p.R122L	PDGFC_ENST00000422544.2_Missense_Mutation_p.R122L|PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000542208.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	122	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)	p.R122L(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		ACCACACCAGCGCCCTAATAT	0.373																																						uc003iph.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(364-366)CGC>CTC		platelet-derived growth factor C precursor							78.0	77.0	78.0					4																	157732119		2203	4299	6502	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157732119C>A	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.365G>T	4.37:g.157732119C>A	ENSP00000422464:p.Arg122Leu					PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_5'UTR|PDGFC_uc011cir.1_5'UTR	p.R122L	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	3	856	-	all_hematologic(180;0.24)	Renal(120;0.0458)	122			CUB.		B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.365G>T	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019708	0.93462	.	.	ENSG00000145431	ENST00000502773;ENST00000422544;ENST00000543489	T;T	0.19938	2.11;2.11	5.08	5.08	0.68730	CUB (5);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.84948	2.725	0.80722	D	1	P	0.48640	0.913	P	0.50537	0.643	T	0.53387	-0.8446	10	0.87932	D	0	-23.0151	18.8259	0.92119	0.0:1.0:0.0:0.0	.	122	Q9NRA1	PDGFC_HUMAN	L	122	ENSP00000422464:R122L;ENSP00000410048:R122L	ENSP00000410048:R122L	R	-	2	0	PDGFC	157951569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.523000	0.85059	0.563000	0.77884	CGC		PASS	0.373	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			15	44	15	44	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160264516	160264516	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:160264516G>T	ENST00000264431.4	+	16	3150	c.2731G>T	c.(2731-2733)Gct>Tct	p.A911S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	911	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.A899S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGGCCGAATGGCTTCAGTGAA	0.453																																						uc003iqg.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(2731-2733)GCT>TCT		Rap guanine nucleotide exchange factor 2							113.0	111.0	112.0					4																	160264516		1947	4147	6094	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160264516G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2731G>T	4.37:g.160264516G>T	ENSP00000264431:p.Ala911Ser						p.A911S	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	16	3041	+	all_hematologic(180;0.24)		911			Ras-GEF.		D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.2731G>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635460|3.635460	0.67130|0.67130	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000502485	T|.	0.29142|.	1.58|.	5.73|5.73	5.73|5.73	0.89815|0.89815	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56645|0.56645	0.1999|0.1999	N|N	0.20986|0.20986	0.625|0.625	0.80722|0.80722	D|D	1|1	B|.	0.17852|.	0.024|.	B|.	0.19946|.	0.027|.	T|T	0.49570|0.49570	-0.8926|-0.8926	10|5	0.33141|.	T|.	0.24|.	.|.	19.8852|19.8852	0.96909|0.96909	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	911|.	Q9Y4G8|.	RPGF2_HUMAN|.	S|V	911|24	ENSP00000264431:A911S|.	ENSP00000264431:A911S|.	A|G	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160483966|160483966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.864000|9.864000	0.99589|0.99589	2.697000|2.697000	0.92050|0.92050	0.491000|0.491000	0.48974|0.48974	GCT|GGC		PASS	0.453	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		31	67	31	67	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160274061	160274061	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr4:160274061G>T	ENST00000264431.4	+	21	4026	c.3607G>T	c.(3607-3609)Ggg>Tgg	p.G1203W		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1203					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.G1191W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTATAGCTTGGGGTAGGTGGC	0.408																																						uc003iqg.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(3607-3609)GGG>TGG		Rap guanine nucleotide exchange factor 2							111.0	107.0	108.0					4																	160274061		1898	4127	6025	SO:0001630	splice_region_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160274061G>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3608+1G>T	4.37:g.160274061G>T							p.G1203W	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	21	3917	+	all_hematologic(180;0.24)		1203					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.3607G>T	CCDS43277.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.62|17.62|17.62	3.434873|3.434873|3.434873	0.62955|0.62955|0.62955	.|.|.	.|.|.	ENSG00000109756|ENSG00000109756|ENSG00000109756	ENST00000505026|ENST00000264431|ENST00000510253	.|T|.	.|0.49720|.	.|0.77|.	5.77|5.77|5.77	4.93|4.93|4.93	0.64822|0.64822|0.64822	.|.|.	0.102956|0.102956|.	0.64402|0.64402|.	D|D|.	0.000003|0.000003|.	T|T|T	0.60366|0.60366|0.60366	0.2263|0.2263|0.2263	L|L|L	0.43923|0.43923|0.43923	1.385|1.385|1.385	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.49783|.	.|0.928|.	.|P|.	.|0.48089|.	.|0.566|.	T|T|T	0.57341|0.57341|0.57341	-0.7828|-0.7828|-0.7828	6|10|5	.|0.87932|.	.|D|.	.|0|.	.|.|.	14.7889|14.7889|14.7889	0.69824|0.69824|0.69824	0.0692:0.0:0.9308:0.0|0.0692:0.0:0.9308:0.0|0.0692:0.0:0.9308:0.0	.|.|.	.|1203|.	.|Q9Y4G8|.	.|RPGF2_HUMAN|.	V|W|C	137|1203|259	.|ENSP00000264431:G1203W|.	.|ENSP00000264431:G1203W|.	G|G|W	+|+|+	2|1|3	0|0|0	RAPGEF2|RAPGEF2|RAPGEF2	160493511|160493511|160493511	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.981000|0.981000|0.981000	0.43875|0.43875|0.43875	0.414000|0.414000|0.414000	0.31173|0.31173|0.31173	6.001000|6.001000|6.001000	0.70685|0.70685|0.70685	1.444000|1.444000|1.444000	0.47605|0.47605|0.47605	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|GGG|TGG		PASS	0.408	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	Missense_Mutation	15	11	15	11	---	---	---	---
IRX1	79192	broad.mit.edu	37	5	3599553	3599553	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:3599553C>A	ENST00000302006.3	+	2	543	c.491C>A	c.(490-492)gCc>gAc	p.A164D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	164					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A164D(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATCATGCTGGCCATCATCACC	0.632																																						uc003jde.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(490-492)GCC>GAC		iroquois homeobox protein 1							168.0	129.0	142.0					5																	3599553		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599553C>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.491C>A	5.37:g.3599553C>A	ENSP00000305244:p.Ala164Asp						p.A164D	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	543	+			164			Homeobox; TALE-type.		Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.491C>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346053	0.82022	.	.	ENSG00000170549	ENST00000302006	D	0.88664	-2.41	4.81	3.94	0.45596	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96513	0.8862	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96955	0.9697	10	0.87932	D	0	.	12.6402	0.56705	0.0:0.9187:0.0:0.0813	.	164	P78414	IRX1_HUMAN	D	164	ENSP00000305244:A164D	ENSP00000305244:A164D	A	+	2	0	IRX1	3652553	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.555000	0.82223	0.990000	0.38787	-0.136000	0.14681	GCC		PASS	0.632	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		20	130	20	130	---	---	---	---
CCT5	22948	broad.mit.edu	37	5	10250467	10250467	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:10250467G>T	ENST00000280326.4	+	1	435	c.15G>T	c.(13-15)ggG>ggT	p.G5G	FAM173B_ENST00000280330.8_5'Flank|CCT5_ENST00000515390.1_Silent_p.G5G|FAM173B_ENST00000510047.1_5'Flank|FAM173B_ENST00000510052.1_5'Flank|CCT5_ENST00000515676.1_5'Flank|CCT5_ENST00000506600.1_5'Flank|FAM173B_ENST00000511437.1_5'Flank|CTD-2256P15.1_ENST00000509915.1_RNA|CCT5_ENST00000503026.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	5					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|response to virus (GO:0009615)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleolus (GO:0005730)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|G-protein beta-subunit binding (GO:0031681)	p.G5G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CGTCCATGGGGACCCTCGCCT	0.582																																						uc003jeq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(13-15)GGG>GGT		chaperonin containing TCP1, subunit 5 (epsilon)							80.0	60.0	67.0					5																	10250467		2203	4300	6503	SO:0001819	synonymous_variant	22948				'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	g.chr5:10250467G>T	D43950	CCDS3877.1	5p15.2	2014-09-17			ENSG00000150753	ENSG00000150753		"""Heat Shock Proteins / Chaperonins"""	1618	protein-coding gene	gene with protein product		610150					Standard	NM_012073		Approved	KIAA0098	uc003jeq.3	P48643	OTTHUMG00000131042	ENST00000280326.4:c.15G>T	5.37:g.10250467G>T						FAM173B_uc003jeo.2_5'Flank|FAM173B_uc003jep.2_5'Flank|FAM173B_uc010itr.2_5'Flank|CCT5_uc011cmq.1_5'UTR|CCT5_uc003jer.2_Silent_p.G5G|CCT5_uc010its.2_Silent_p.G5G|CCT5_uc011cmr.1_Silent_p.G5G|CCT5_uc011cms.1_5'Flank|CCT5_uc011cmt.1_5'Flank	p.G5G	NM_012073	NP_036205	P48643	TCPE_HUMAN			1	186	+			5					A8JZY8|A8K2X8|B4DYD8	Silent	SNP	ENST00000280326.4	37	c.15G>T	CCDS3877.1																																																																																				PASS	0.582	CCT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253688.2			19	24	19	24	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535872	24535872	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:24535872C>G	ENST00000264463.4	-	4	1093	c.586G>C	c.(586-588)Gcc>Ccc	p.A196P		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A196P(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACTCTGGCGCTGTTCCCA	0.453										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(586-588)GCC>CCC		cadherin 10, type 2 preproprotein							136.0	124.0	128.0					5																	24535872		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535872C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.586G>C	5.37:g.24535872C>G	ENSP00000264463:p.Ala196Pro	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.A196P	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	918	-			196			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.586G>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	34	5.391156	0.95988	.	.	ENSG00000040731	ENST00000264463	T	0.01804	4.63	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.17323	0.0416	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00266	-1.1864	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	196	Q9Y6N8	CAD10_HUMAN	P	196	ENSP00000264463:A196P	ENSP00000264463:A196P	A	-	1	0	CDH10	24571629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.453	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		36	47	36	47	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31317838	31317838	+	Silent	SNP	C	C	A	rs368648160		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:31317838C>A	ENST00000265071.2	+	11	1954	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	CDH6_ENST00000514738.1_Silent_p.T508T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T563T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGATGAGCACCTATCTCTTGC	0.498																																						uc003jhe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1687-1689)ACC>ACA		cadherin 6, type 2 preproprotein							103.0	90.0	95.0					5																	31317838		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317838C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1689C>A	5.37:g.31317838C>A						CDH6_uc003jhd.1_Silent_p.T563T	p.T563T	NM_004932	NP_004923	P55285	CADH6_HUMAN			11	2015	+			563			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1689C>A	CCDS3894.1																																																																																				PASS	0.498	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		45	37	45	37	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31515295	31515295	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:31515295G>T	ENST00000511367.2	-	7	1334	c.1090C>A	c.(1090-1092)Cgt>Agt	p.R364S	DROSHA_ENST00000344624.3_Missense_Mutation_p.R364S|DROSHA_ENST00000442743.1_Missense_Mutation_p.R327S|DROSHA_ENST00000513349.1_Missense_Mutation_p.R327S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	364					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R364S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TCCTCCCAACGAGCTCTCTTC	0.433																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)CGT>AGT		ribonuclease III, nuclear isoform 1							125.0	117.0	119.0					5																	31515295		1829	4084	5913	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31515295G>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1090C>A	5.37:g.31515295G>T	ENSP00000425979:p.Arg364Ser					RNASEN_uc003jhh.2_Missense_Mutation_p.R327S|RNASEN_uc003jhi.2_Missense_Mutation_p.R327S|RNASEN_uc010iui.1_Missense_Mutation_p.R287S	p.R364S	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			7	1449	-			364					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1090C>A	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.2|29.2	4.986940|4.986940	0.93106|0.93106	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000512302|ENST00000512076	T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36;-0.36|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.57695|.	0.2071|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.987;0.987|.	D;D;D|.	0.85130|.	0.997;0.953;0.953|.	T|.	0.51810|.	-0.8658|.	10|.	0.35671|.	T|.	0.21|.	-17.5807|-17.5807	19.38|19.38	0.94529|0.94529	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	296;327;364|.	Q9NRR4-2;E7EMP9;Q9NRR4|.	.;.;RNC_HUMAN|.	S|X	364;364;327;327;289;320;131|125	ENSP00000425979:R364S;ENSP00000339845:R364S;ENSP00000409335:R327S;ENSP00000424161:R327S;ENSP00000428782:R131S|.	ENSP00000265075:R289S|.	R|S	-|-	1|2	0|0	DROSHA|DROSHA	31551052|31551052	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.438000|9.438000	0.97539|0.97539	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	CGT|TCG		PASS	0.433	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		91	130	91	130	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576589	33576589	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:33576589C>A	ENST00000504830.1	-	19	3877	c.3542G>T	c.(3541-3543)aGa>aTa	p.R1181I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1096I|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1181	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1181I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCAGGTACTCTGATCTTGGT	0.498										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3541-3543)AGA>ATA		ADAM metallopeptidase with thrombospondin type 1							200.0	182.0	188.0					5																	33576589		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576589C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3542G>T	5.37:g.33576589C>A	ENSP00000422554:p.Arg1181Ile	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1096I	p.R1181I	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3705	-			1181			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3542G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	6.990	0.552750	0.13374	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60040	0.23;0.22	5.28	3.32	0.38043	.	0.964812	0.08677	N	0.909997	T	0.42517	0.1206	L	0.32530	0.975	0.09310	N	0.999999	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.27434	-1.0074	10	0.36615	T	0.2	.	3.158	0.06510	0.1567:0.5042:0.2403:0.0987	.	1096;1181	P58397-3;P58397	.;ATS12_HUMAN	I	1181;1096	ENSP00000422554:R1181I;ENSP00000344847:R1096I	ENSP00000344847:R1096I	R	-	2	0	ADAMTS12	33612346	0.213000	0.23551	0.002000	0.10522	0.037000	0.13140	0.747000	0.26290	1.409000	0.46915	0.655000	0.94253	AGA		PASS	0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		89	113	89	113	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33684122	33684122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:33684122C>A	ENST00000504830.1	-	4	1008	c.673G>T	c.(673-675)Gag>Tag	p.E225*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.E225*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	225					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E225*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCCCACTTCTCCCGCCATAGC	0.468										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(673-675)GAG>TAG		ADAM metallopeptidase with thrombospondin type 1							72.0	66.0	68.0					5																	33684122		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33684122C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.673G>T	5.37:g.33684122C>A	ENSP00000422554:p.Glu225*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.E225*	p.E225*	NM_030955	NP_112217	P58397	ATS12_HUMAN			4	836	-			225					A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.673G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	39	7.839589	0.98519	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	4.99	4.99	0.66335	.	0.204193	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.8321	0.92144	0.0:1.0:0.0:0.0	.	.	.	.	X	225	.	ENSP00000344847:E225X	E	-	1	0	ADAMTS12	33719879	1.000000	0.71417	0.944000	0.38274	0.628000	0.37860	7.339000	0.79282	2.754000	0.94517	0.637000	0.83480	GAG		PASS	0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		39	18	39	18	---	---	---	---
C7	730	broad.mit.edu	37	5	40955555	40955555	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:40955555G>T	ENST00000313164.9	+	10	1519	c.1160G>T	c.(1159-1161)gGc>gTc	p.G387V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	387	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.G387V(1)					Ovarian(839;0.0112)				TTCATATCTGGCCTTAGTTAC	0.438																																						uc003jmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)GGC>GTC		complement component 7 precursor							130.0	128.0	129.0					5																	40955555		1895	4128	6023	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40955555G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1160G>T	5.37:g.40955555G>T	ENSP00000322061:p.Gly387Val					C7_uc011cpn.1_RNA	p.G387V	NM_000587	NP_000578	P10643	CO7_HUMAN			10	1274	+		Ovarian(839;0.0112)	387			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1160G>T	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177589	0.38413	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	D	0.84516	-1.86	5.26	3.41	0.39046	Membrane attack complex component/perforin (MACPF) domain (3);	0.492020	0.21850	N	0.068187	D	0.89008	0.6593	M	0.74258	2.255	0.48901	D	0.999724	D	0.58268	0.982	P	0.59825	0.864	D	0.88191	0.2877	10	0.52906	T	0.07	-6.0567	8.8473	0.35179	0.1483:0.1254:0.7263:0.0	.	387	P10643	CO7_HUMAN	V	387;227	ENSP00000322061:G387V	ENSP00000322061:G387V	G	+	2	0	C7	40991312	1.000000	0.71417	0.898000	0.35279	0.340000	0.28889	3.154000	0.50693	1.305000	0.44909	0.655000	0.94253	GGC		PASS	0.438	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			67	115	67	115	---	---	---	---
HCN1	348980	broad.mit.edu	37	5	45262353	45262353	+	Silent	SNP	C	C	T	rs575150344		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:45262353C>T	ENST00000303230.4	-	8	2400	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	781					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R781R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCCTGACTTCCCGGGTCAGGT	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		17138	0.001		0.0	False		,,,				2504	0.0					uc003jok.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2341-2343)CGG>CGA		hyperpolarization activated cyclic							72.0	69.0	70.0					5																	45262353		2203	4300	6503	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262353C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2343G>A	5.37:g.45262353C>T							p.R781R	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2368	-			781			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.2343G>A	CCDS3952.1																																																																																				PASS	0.632	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		32	34	32	34	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79026563	79026563	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:79026563G>C	ENST00000446378.2	+	2	2006	c.1975G>C	c.(1975-1977)Gag>Cag	p.E659Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	659					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.E659Q(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)		ATCCACAACTGAGAAGACTTC	0.473																																						uc003kgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(2)|lung(1)	9						c.(1975-1977)GAG>CAG		cardiomyopathy associated 5							53.0	52.0	52.0					5																	79026563		1932	4139	6071	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79026563G>C	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.1975G>C	5.37:g.79026563G>C	ENSP00000394770:p.Glu659Gln						p.E659Q	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	2047	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	659					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.1975G>C	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662829	0.29515	.	.	ENSG00000164309	ENST00000446378	T	0.61392	0.11	5.67	5.67	0.87782	.	0.425959	0.20227	N	0.096568	T	0.75554	0.3865	M	0.77103	2.36	0.21950	N	0.999456	D	0.76494	0.999	D	0.63597	0.916	T	0.69862	-0.5030	10	0.72032	D	0.01	.	16.6816	0.85294	0.0:0.0:1.0:0.0	.	659	Q8N3K9	CMYA5_HUMAN	Q	659	ENSP00000394770:E659Q	ENSP00000394770:E659Q	E	+	1	0	CMYA5	79062319	0.906000	0.30813	0.781000	0.31783	0.015000	0.08874	2.608000	0.46308	2.686000	0.91538	0.609000	0.83330	GAG		PASS	0.473	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		8	30	8	30	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90012361	90012361	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:90012361G>C	ENST00000405460.2	+	43	9358	c.9262G>C	c.(9262-9264)Gag>Cag	p.E3088Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3088	Calx-beta 22. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E3088Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCTAAGAGAGCCAACAGC	0.408																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(9262-9264)GAG>CAG		G protein-coupled receptor 98 precursor							65.0	60.0	61.0					5																	90012361		1837	4098	5935	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90012361G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9262G>C	5.37:g.90012361G>C	ENSP00000384582:p.Glu3088Gln					GPR98_uc003kjt.2_Missense_Mutation_p.E794Q|GPR98_uc003kjv.2_Missense_Mutation_p.E688Q	p.E3088Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	43	9358	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3088			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9262G>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.929397|4.929397	0.92389|0.92389	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000509621|ENST00000405460;ENST00000296619	.|T	.|0.28454	.|1.61	6.01|6.01	6.01|6.01	0.97437|0.97437	.|Na-Ca exchanger/integrin-beta4 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.60327|0.60327	0.2260|0.2260	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.911;1.0	.|P;D	.|0.66716	.|0.575;0.946	T|T	0.60845|0.60845	-0.7182|-0.7182	6|10	.|0.62326	.|D	.|0.03	.|.	20.5211|20.5211	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3088;3088	.|E7ETI5;Q8WXG9	.|.;GPR98_HUMAN	D|Q	653|3088	.|ENSP00000384582:E3088Q	.|ENSP00000296619:E3088Q	E|E	+|+	3|1	2|0	GPR98|GPR98	90048117|90048117	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.684000|0.684000	0.39900|0.39900	9.261000|9.261000	0.95576|0.95576	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAG|GAG		PASS	0.408	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	31	3	31	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101834339	101834339	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:101834339G>A	ENST00000506729.1	-	1	381	c.210C>T	c.(208-210)gcC>gcT	p.A70A	SLCO6A1_ENST00000379810.1_Silent_p.A70A|SLCO6A1_ENST00000389019.3_Silent_p.A70A|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Silent_p.A70A|SLCO6A1_ENST00000379807.3_Silent_p.A70A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A70A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTGAGGACTTGGCTTTTTTCC	0.517																																						uc003knn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(208-210)GCC>GCT		solute carrier organic anion transporter family,							139.0	149.0	146.0					5																	101834339		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834339G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.210C>T	5.37:g.101834339G>A						SLCO6A1_uc003kno.2_Silent_p.A70A|SLCO6A1_uc003knp.2_Silent_p.A70A|SLCO6A1_uc003knq.2_Silent_p.A70A	p.A70A	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	382	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	70			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.210C>T	CCDS34206.1																																																																																				PASS	0.517	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		126	158	126	158	---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122751802	122751802	+	Missense_Mutation	SNP	T	T	A	rs372680663		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:122751802T>A	ENST00000306467.5	-	3	527	c.223A>T	c.(223-225)Atc>Ttc	p.I75F	CEP120_ENST00000328236.5_Missense_Mutation_p.I75F|CEP120_ENST00000306481.6_Missense_Mutation_p.I49F|CEP120_ENST00000395431.2_Missense_Mutation_p.I75F			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	75					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.I75F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGAGTTTGATAGGAGTACGC	0.353																																						uc003ktk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)ATC>TTC		coiled-coil domain containing 100							88.0	78.0	81.0					5																	122751802		1839	4092	5931	SO:0001583	missense	153241					centrosome		g.chr5:122751802T>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.223A>T	5.37:g.122751802T>A	ENSP00000303058:p.Ile75Phe					CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_Missense_Mutation_p.I49F	p.I75F	NM_153223	NP_694955	Q8N960	CE120_HUMAN			4	305	-			75					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.223A>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043108	0.75732	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	5.43	4.26	0.50523	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.058420	0.64402	D	0.000002	D	0.82715	0.5097	M	0.74881	2.28	0.80722	D	1	D	0.57571	0.98	P	0.61592	0.891	D	0.83729	0.0197	10	0.87932	D	0	-7.0838	10.8359	0.46688	0.0:0.0763:0.0:0.9237	.	75	Q8N960	CE120_HUMAN	F	75;75;49;49;75	ENSP00000303058:I75F;ENSP00000327504:I75F;ENSP00000307419:I49F;ENSP00000421620:I49F;ENSP00000378819:I75F	ENSP00000303058:I75F	I	-	1	0	CEP120	122779701	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.263000	0.58853	0.985000	0.38656	0.533000	0.62120	ATC		PASS	0.353	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		27	23	27	23	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127730856	127730856	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:127730856C>G	ENST00000508053.1	-	15	2164	c.1190G>C	c.(1189-1191)gGc>gCc	p.G397A	FBN2_ENST00000508989.1_Missense_Mutation_p.G364A|FBN2_ENST00000262464.4_Missense_Mutation_p.G397A			P35556	FBN2_HUMAN	fibrillin 2	397	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.G397A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTCCGATGCCCCAGCAGCG	0.562																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1189-1191)GGC>GCC		fibrillin 2 precursor							84.0	78.0	80.0					5																	127730856		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127730856C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1190G>C	5.37:g.127730856C>G	ENSP00000424571:p.Gly397Ala					FBN2_uc003kuv.2_Missense_Mutation_p.G364A	p.G397A	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	9	1629	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	397			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1190G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117878	0.20877	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.97575	-4.44;-4.44;-4.44	4.44	4.44	0.53790	Matrix fibril-associated (3);TGF-beta binding (1);	0.277145	0.28482	N	0.015191	D	0.86326	0.5906	N	0.00760	-1.21	0.27881	N	0.939687	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.73864	-0.3848	10	0.07813	T	0.8	.	12.1338	0.53959	0.0:0.6878:0.3122:0.0	.	364;397	D6RJI3;P35556	.;FBN2_HUMAN	A	397;397;364	ENSP00000262464:G397A;ENSP00000424571:G397A;ENSP00000425596:G364A	ENSP00000262464:G397A	G	-	2	0	FBN2	127758755	1.000000	0.71417	0.963000	0.40424	0.816000	0.46133	5.100000	0.64560	2.750000	0.94351	0.655000	0.94253	GGC		PASS	0.562	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		22	33	22	33	---	---	---	---
SHROOM1	134549	broad.mit.edu	37	5	132161784	132161784	+	Missense_Mutation	SNP	T	T	A	rs10054043		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:132161784T>A	ENST00000378679.3	-	4	853	c.49A>T	c.(49-51)Act>Tct	p.T17S	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Missense_Mutation_p.T17S|SHROOM1_ENST00000319854.3_Missense_Mutation_p.T17S	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	17					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)	p.T17S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCTGCTAGTGGACGAGGCC	0.711																																						uc003kxx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(49-51)ACT>TCT		shroom family member 1							5.0	6.0	6.0					5																	132161784		1946	3975	5921	SO:0001583	missense	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132161784T>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.49A>T	5.37:g.132161784T>A	ENSP00000367950:p.Thr17Ser					SHROOM1_uc003kxy.1_Missense_Mutation_p.T17S	p.T17S	NM_133456	NP_597713	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	854	-			17					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	ENST00000378679.3	37	c.49A>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858417	0.51376	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	4.31	0.186	0.15105	.	0.217676	0.37906	N	0.001886	T	0.32164	0.0820	L	0.32530	0.975	0.23865	N	0.996624	P;P	0.42908	0.793;0.689	B;B	0.42738	0.396;0.223	T	0.14559	-1.0468	10	0.35671	T	0.21	-1.5333	4.9685	0.14103	0.0:0.103:0.3651:0.5318	.	17;17	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	S	17	ENSP00000367950:T17S;ENSP00000324245:T17S;ENSP00000367947:T17S;ENSP00000388049:T17S	ENSP00000324245:T17S	T	-	1	0	SHROOM1	132189683	0.282000	0.24268	0.277000	0.24703	0.181000	0.23173	0.204000	0.17335	-0.049000	0.13379	0.459000	0.35465	ACT		PASS	0.711	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		8	7	8	7	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202652	140202652	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:140202652C>T	ENST00000529859.1	+	1	1292	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S431L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S431L|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	431	Cadherin 4. {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.S431L(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.642																																						uc003lhl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1291-1293)TCG>TTG		protocadherin alpha 5 isoform 1 precursor							79.0	85.0	83.0					5																	140202652		2203	4299	6502	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202652C>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1292C>T	5.37:g.140202652C>T	ENSP00000436557:p.Ser431Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.S431L|PCDHA5_uc003lhj.1_Missense_Mutation_p.S431L	p.S431L	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1292	+			431			Extracellular (Potential).|Cadherin 4.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1292C>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205489	0.39003	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.54675	0.56;0.56;0.56	3.98	3.02	0.34903	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.52869	0.1761	M	0.62723	1.935	0.09310	N	0.999999	B;B;B	0.32324	0.236;0.364;0.364	B;B;B	0.36418	0.224;0.067;0.031	T	0.52313	-0.8592	9	0.54805	T	0.06	.	12.5477	0.56210	0.1672:0.8328:0.0:0.0	.	431;431;431	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	L	431	ENSP00000433416:S431L;ENSP00000436557:S431L;ENSP00000367366:S431L	ENSP00000367366:S431L	S	+	2	0	PCDHA5	140182836	0.000000	0.05858	0.991000	0.47740	0.855000	0.48748	-0.800000	0.04555	1.930000	0.55929	0.558000	0.71614	TCG		PASS	0.642	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		15	139	15	139	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215062	140215062	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:140215062C>A	ENST00000525929.1	+	1	1094	c.1094C>A	c.(1093-1095)cCa>cAa	p.P365Q	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P365Q|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	365	Cadherin 4. {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.P365Q(4)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCCAACCAGGTACCGTC	0.507																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			4	Substitution - Missense(4)		lung(4)	ovary(2)|skin(2)	4						c.(1093-1095)CCA>CAA		protocadherin alpha 7 isoform 1 precursor							167.0	154.0	158.0					5																	140215062		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215062C>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1094C>A	5.37:g.140215062C>A	ENSP00000436426:p.Pro365Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.P365Q	p.P365Q	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1094	+			365			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1094C>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.991	-0.694016	0.03303	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01665	4.7;4.7	4.04	0.0109	0.14085	Cadherin (3);Cadherin-like (1);	2.502700	0.04220	U	0.333392	T	0.04137	0.0115	M	0.73753	2.245	0.09310	N	1	B;B	0.26845	0.106;0.161	B;B	0.33392	0.159;0.163	T	0.44922	-0.9296	10	0.54805	T	0.06	.	5.7003	0.17879	0.1241:0.5259:0.0:0.3499	.	365;365	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	Q	365	ENSP00000436426:P365Q;ENSP00000367365:P365Q	ENSP00000367365:P365Q	P	+	2	0	PCDHA7	140195246	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-1.388000	0.02533	-0.277000	0.09193	0.305000	0.20034	CCA		PASS	0.507	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		67	141	67	141	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725268	140725268	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:140725268C>T	ENST00000253812.6	+	1	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N556N(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAACGCGC	0.622																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1666-1668)AAC>AAT		protocadherin gamma subfamily A, 3 isoform 1							133.0	144.0	140.0					5																	140725268		2203	4300	6503	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725268C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1668C>T	5.37:g.140725268C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.N316N|PCDHGA3_uc011dap.1_Silent_p.N556N	p.N556N	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1668	+			556			Extracellular (Potential).|Cadherin 5.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1668C>T	CCDS47290.1																																																																																				PASS	0.622	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		8	231	8	231	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140772461	140772461	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:140772461G>T	ENST00000398604.2	+	1	81	c.81G>T	c.(79-81)ggG>ggT	p.G27G	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	27					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G27G(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATCGGGAGGGGACAGA	0.607																																						uc003lkd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(79-81)GGG>GGT		protocadherin gamma subfamily A, 8 isoform 1							26.0	32.0	30.0					5																	140772461		2129	4267	6396	SO:0001819	synonymous_variant	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140772461G>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.81G>T	5.37:g.140772461G>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_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.G27G	p.G27G	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	979	+			27					A7MCZ4|O15039	Silent	SNP	ENST00000398604.2	37	c.81G>T	CCDS47291.1																																																																																				PASS	0.607	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		22	21	22	21	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141023886	141023886	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:141023886A>G	ENST00000435817.2	-	17	1812	c.1762T>C	c.(1762-1764)Tgg>Cgg	p.W588R	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.W514R|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	588	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.							p.W588R(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCCCTCCAGAAGCCGTCA	0.627																																						uc003llk.2																		FCHSD1/BRAF(2)	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1762-1764)TGG>CGG		FCH and double SH3 domains 1							34.0	40.0	38.0					5																	141023886		1858	4085	5943	SO:0001583	missense	89848							g.chr5:141023886A>G	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1762T>C	5.37:g.141023886A>G	ENSP00000399259:p.Trp588Arg					FCHSD1_uc010jgg.2_Missense_Mutation_p.W271R|FCHSD1_uc003llj.2_RNA	p.W588R	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1813	-			588			SH3 2.		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1762T>C	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300323	0.81136	.	.	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.46063	0.88;0.88	5.44	5.44	0.79542	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83088	-0.0134	10	0.87932	D	0	-10.9371	15.3268	0.74172	1.0:0.0:0.0:0.0	.	268;588	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	R	588;514	ENSP00000399259:W588R;ENSP00000428677:W514R	ENSP00000399259:W588R	W	-	1	0	FCHSD1	141004070	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.613000	0.90913	2.288000	0.76882	0.533000	0.62120	TGG		PASS	0.627	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		15	27	15	27	---	---	---	---
AFAP1L1	134265	broad.mit.edu	37	5	148712275	148712275	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:148712275C>G	ENST00000296721.4	+	17	2091	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.L665V	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	665						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L665V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAAAGGCTCTGGAAGAAGC	0.537																																						uc003lqh.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1993-1995)CTG>GTG		actin filament associated protein 1-like 1							32.0	38.0	36.0					5																	148712275		2203	4300	6503	SO:0001583	missense	134265						protein binding	g.chr5:148712275C>G	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1993C>G	5.37:g.148712275C>G	ENSP00000296721:p.Leu665Val					AFAP1L1_uc010jgy.2_Missense_Mutation_p.L665V|AFAP1L1_uc003lqi.1_Missense_Mutation_p.L280V	p.L665V	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	2124	+			665			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	c.1993C>G	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159082	0.38119	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.34472	1.48;1.36	5.53	3.72	0.42706	.	0.000000	0.64402	D	0.000013	T	0.37183	0.0994	M	0.76170	2.325	0.32341	N	0.559723	P;P	0.49253	0.882;0.921	B;B	0.44278	0.445;0.401	T	0.55082	-0.8196	10	0.56958	D	0.05	-13.0729	4.5071	0.11893	0.162:0.5972:0.0:0.2408	.	665;665	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	V	665	ENSP00000296721:L665V;ENSP00000424427:L665V	ENSP00000296721:L665V	L	+	1	2	AFAP1L1	148692468	0.315000	0.24571	0.967000	0.41034	0.968000	0.65278	1.102000	0.31050	1.315000	0.45114	0.561000	0.74099	CTG		PASS	0.537	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		55	57	55	57	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150897185	150897185	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:150897185A>C	ENST00000261800.5	-	19	11471	c.11459T>G	c.(11458-11460)cTg>cGg	p.L3820R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3820	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3820R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTACCTTCAGGGAGACGGA	0.557																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(11458-11460)CTG>CGG		FAT tumor suppressor 2 precursor							102.0	103.0	103.0					5																	150897185		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150897185A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11459T>G	5.37:g.150897185A>C	ENSP00000261800:p.Leu3820Arg					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L513R	p.L3820R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	11472	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3820			Extracellular (Potential).|Laminin G-like.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11459T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688098	0.68271	.	.	ENSG00000086570	ENST00000261800	T	0.78816	-1.21	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.141721	0.31989	N	0.006745	D	0.87051	0.6081	M	0.79258	2.445	0.51233	D	0.999912	D;D	0.61080	0.989;0.977	D;P	0.64144	0.922;0.804	D	0.88930	0.3372	10	0.87932	D	0	.	15.4996	0.75687	1.0:0.0:0.0:0.0	.	3820;1011	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	R	3820	ENSP00000261800:L3820R	ENSP00000261800:L3820R	L	-	2	0	FAT2	150877378	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	6.225000	0.72271	2.117000	0.64856	0.528000	0.53228	CTG		PASS	0.557	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		34	53	34	53	---	---	---	---
GABRG2	2566	broad.mit.edu	37	5	161580143	161580143	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:161580143G>T	ENST00000361925.4	+	9	1393	c.1173G>T	c.(1171-1173)atG>atT	p.M391I	GABRG2_ENST00000414552.2_Missense_Mutation_p.M439I|GABRG2_ENST00000356592.3_Missense_Mutation_p.M399I|GABRG2_ENST00000393933.4_Missense_Mutation_p.M296I			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	391					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.M399I(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCATTCAAATGAATAATGCTA	0.478																																						uc003lyz.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1171-1173)ATG>ATT		gamma-aminobutyric acid A receptor, gamma 2							145.0	131.0	135.0					5																	161580143		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580143G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1173G>T	5.37:g.161580143G>T	ENSP00000354651:p.Met391Ile					GABRG2_uc010jjc.2_Missense_Mutation_p.M439I|GABRG2_uc003lyy.3_Missense_Mutation_p.M399I|GABRG2_uc011dej.1_Missense_Mutation_p.M296I	p.M391I	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1531	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	391			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1173G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098822	0.37048	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.85411	-1.97;-1.97;-1.98;-1.98	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.111614	0.85682	D	0.000000	T	0.71634	0.3363	N	0.04787	-0.16	0.80722	D	1	B;B;B	0.12630	0.006;0.002;0.0	B;B;B	0.14023	0.009;0.01;0.006	T	0.67845	-0.5565	10	0.07482	T	0.82	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	439;391;399	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	I	399;439;391;296	ENSP00000349000:M399I;ENSP00000410732:M439I;ENSP00000354651:M391I;ENSP00000377510:M296I	ENSP00000349000:M399I	M	+	3	0	GABRG2	161512721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.903000	0.87398	2.824000	0.97209	0.655000	0.94253	ATG		PASS	0.478	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			53	67	53	67	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168199835	168199835	+	Silent	SNP	G	G	T	rs267600543		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:168199835G>T	ENST00000519560.1	-	14	1829	c.1410C>A	c.(1408-1410)ctC>ctA	p.L470L	SLIT3_ENST00000404867.3_Silent_p.L470L|SLIT3_ENST00000332966.8_Silent_p.L470L	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	470	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.L470L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTGTTGGCGAGTCGGCGCG	0.612																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1408-1410)CTC>CTA		slit homolog 3 precursor							42.0	44.0	43.0					5																	168199835		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168199835G>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1410C>A	5.37:g.168199835G>T						SLIT3_uc010jjg.2_Silent_p.L470L|SLIT3_uc010jji.2_Silent_p.L470L|SLIT3_uc003mac.1_Silent_p.L267L	p.L470L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1830	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	470			LRRCT 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.1410C>A	CCDS4369.1																																																																																				PASS	0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		41	46	41	46	---	---	---	---
CANX	821	broad.mit.edu	37	5	179136000	179136000	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr5:179136000T>C	ENST00000247461.4	+	6	668	c.468T>C	c.(466-468)aaT>aaC	p.N156N	CANX_ENST00000504734.1_Silent_p.N156N|CANX_ENST00000503126.1_3'UTR|CANX_ENST00000512607.2_Silent_p.N48N|CANX_ENST00000452673.2_Silent_p.N156N|CANX_ENST00000415618.2_Silent_p.N191N	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	156					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)	p.N156N(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ATTTCCAAAATGGAATAGAAT	0.393																																						uc003mkk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(466-468)AAT>AAC		calnexin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						192.0	192.0	192.0					5																	179136000		2203	4300	6503	SO:0001819	synonymous_variant	821				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding	g.chr5:179136000T>C	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.468T>C	5.37:g.179136000T>C						CANX_uc011dgp.1_Silent_p.N191N|CANX_uc010jlb.1_Silent_p.N92N|CANX_uc003mkl.2_Silent_p.N156N|CANX_uc011dgq.1_Silent_p.N48N	p.N156N	NM_001746	NP_001737	P27824	CALX_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	645	+	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	156			Lumenal (Potential).		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Silent	SNP	ENST00000247461.4	37	c.468T>C	CCDS4447.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295377	0.23564	.	.	ENSG00000127022	ENST00000510810;ENST00000508787	.	.	.	5.68	-0.624	0.11552	.	.	.	.	.	T	0.55689	0.1936	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50065	-0.8871	4	.	.	.	-42.3145	9.7557	0.40502	0.0:0.341:0.0:0.659	.	.	.	.	T	125;39	.	.	M	+	2	0	CANX	179068606	0.990000	0.36364	0.996000	0.52242	0.983000	0.72400	0.201000	0.17276	-0.095000	0.12351	0.459000	0.35465	ATG		PASS	0.393	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253500.2	NM_001024649		38	43	38	43	---	---	---	---
MRPS18B	28973	broad.mit.edu	37	6	30593547	30593547	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:30593547G>A	ENST00000259873.4	+	7	907	c.750G>A	c.(748-750)ggG>ggA	p.G250G	MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000329992.8_5'Flank|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000330083.5_5'Flank|ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000319027.5_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000376485.4_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	250					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)	p.G250G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CCTCCACTGGGCAGACAGGCC	0.602																																						uc003nqo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(748-750)GGG>GGA		mitochondrial ribosomal protein S18B precursor							70.0	71.0	71.0					6																	30593547		1511	2709	4220	SO:0001819	synonymous_variant	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593547G>A	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.750G>A	6.37:g.30593547G>A						MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Silent_p.G207G|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank	p.G250G	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN			7	907	+			250					A6NDQ0|Q659G4|Q9BS27	Silent	SNP	ENST00000259873.4	37	c.750G>A	CCDS4682.1																																																																																				PASS	0.602	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			4	44	4	44	---	---	---	---
CFB	629	broad.mit.edu	37	6	31919166	31919166	+	Missense_Mutation	SNP	G	G	A	rs200095748		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:31919166G>A	ENST00000425368.2	+	16	2518	c.2005G>A	c.(2005-2007)Gtc>Atc	p.V669I	CFB_ENST00000556679.1_Missense_Mutation_p.V1171I|CFB_ENST00000477310.1_Missense_Mutation_p.V1020I|CFB_ENST00000456570.1_Missense_Mutation_p.V1171I	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	669	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.V669I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTATGACAAAGTCAAGGACAT	0.507																																						uc003nyj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2005-2007)GTC>ATC		complement factor B preproprotein							134.0	116.0	122.0					6																	31919166		1511	2709	4220	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31919166G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.2005G>A	6.37:g.31919166G>A	ENSP00000416561:p.Val669Ile					CFB_uc011dor.1_Missense_Mutation_p.V1171I	p.V669I	NM_001710	NP_001701	P00751	CFAB_HUMAN			16	2283	+			669			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.2005G>A	CCDS4729.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.232708	0.39498	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.84	0.608	0.17569	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.510205	0.16428	N	0.214875	T	0.03827	0.0108	N	0.04063	-0.285	0.22745	N	0.998783	B;B	0.29612	0.251;0.002	B;B	0.29353	0.101;0.01	T	0.44329	-0.9335	10	0.20046	T	0.44	-17.8828	8.237	0.31631	0.4615:0.0:0.5385:0.0	.	1171;669	B4E1Z4;P00751	.;CFAB_HUMAN	I	1171;669;1171;1020	ENSP00000451848:V1171I;ENSP00000416561:V669I;ENSP00000410815:V1171I;ENSP00000418996:V1020I	ENSP00000416561:V669I	V	+	1	0	CFB;XXbac-BPG116M5.17	32027145	0.325000	0.24660	0.134000	0.22075	0.991000	0.79684	0.422000	0.21296	0.015000	0.14971	0.655000	0.94253	GTC		PASS	0.507	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		6	87	6	87	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43400473	43400473	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:43400473A>T	ENST00000372530.4	+	3	970	c.755A>T	c.(754-756)cAc>cTc	p.H252L	ABCC10_ENST00000244533.3_Missense_Mutation_p.H209L|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	252					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.H209L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CGCCTCCCCCACAGACTGCAG	0.642																																						uc003ouy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(754-756)CAC>CTC		ATP-binding cassette, sub-family C, member 10							37.0	39.0	39.0					6																	43400473		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400473A>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.755A>T	6.37:g.43400473A>T	ENSP00000361608:p.His252Leu					ABCC10_uc003ouz.1_Missense_Mutation_p.H209L	p.H252L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	970	+	all_lung(25;0.00536)		252					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.755A>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	A	6.224	0.409494	0.11812	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.90844	-2.72;-2.74	5.54	-11.1	0.00147	.	1.717780	0.02152	N	0.058054	T	0.58032	0.2094	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.59118	-0.7514	10	0.30854	T	0.27	-8.6623	4.0871	0.09951	0.2637:0.1519:0.434:0.1503	.	209;252	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	L	252;209	ENSP00000361608:H252L;ENSP00000244533:H209L	ENSP00000244533:H209L	H	+	2	0	ABCC10	43508451	0.000000	0.05858	0.005000	0.12908	0.802000	0.45316	-1.202000	0.03023	-1.844000	0.01178	-0.379000	0.06801	CAC		PASS	0.642	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		12	27	12	27	---	---	---	---
TJAP1	93643	broad.mit.edu	37	6	43466750	43466750	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:43466750C>G	ENST00000372445.5	+	4	387	c.11C>G	c.(10-12)gCc>gGc	p.A4G	TJAP1_ENST00000259751.1_Missense_Mutation_p.A4G|TJAP1_ENST00000438588.2_Missense_Mutation_p.A4G|TJAP1_ENST00000372444.2_Missense_Mutation_p.A4G|TJAP1_ENST00000372452.1_Missense_Mutation_p.A4G|TJAP1_ENST00000372449.1_Missense_Mutation_p.A4G|TJAP1_ENST00000436109.2_Missense_Mutation_p.A4G|TJAP1_ENST00000483640.1_3'UTR	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	4					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.A4G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ATGACTAGTGCCGCCCCTGCT	0.567																																						uc003ovd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GCC>GGC		tight junction associated protein 1 isoform a							77.0	64.0	68.0					6																	43466750		2203	4300	6503	SO:0001583	missense	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43466750C>G	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.11C>G	6.37:g.43466750C>G	ENSP00000361522:p.Ala4Gly					TJAP1_uc003ovf.2_Missense_Mutation_p.A4G|TJAP1_uc003ove.2_Missense_Mutation_p.A4G|TJAP1_uc003ovc.2_Missense_Mutation_p.A4G|TJAP1_uc010jyp.2_5'UTR|TJAP1_uc011dvh.1_Missense_Mutation_p.A4G|TJAP1_uc003ovg.2_5'UTR|TJAP1_uc010jyq.2_Missense_Mutation_p.A4G|TJAP1_uc011dvi.1_Missense_Mutation_p.A4G|TJAP1_uc011dvj.1_5'Flank	p.A4G	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		4	387	+	all_lung(25;0.00536)		4					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	ENST00000372445.5	37	c.11C>G	CCDS55004.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273504	0.80580	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.31	5.31	0.75309	.	0.127433	0.53938	D	0.000058	T	0.29976	0.0750	L	0.47716	1.5	0.41100	D	0.985667	B;B;B	0.30605	0.287;0.037;0.037	B;B;B	0.33620	0.167;0.024;0.024	T	0.23762	-1.0179	10	0.66056	D	0.02	-64.045	17.1606	0.86802	0.0:1.0:0.0:0.0	.	4;4;4	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	G	4	ENSP00000361521:A4G;ENSP00000361522:A4G;ENSP00000407080:A4G;ENSP00000390981:A4G;ENSP00000259751:A4G;ENSP00000361530:A4G;ENSP00000361527:A4G;ENSP00000408769:A4G	ENSP00000259751:A4G	A	+	2	0	TJAP1	43574728	0.976000	0.34144	0.996000	0.52242	0.986000	0.74619	3.539000	0.53604	2.495000	0.84180	0.655000	0.94253	GCC		PASS	0.567	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		23	22	23	22	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52288907	52288907	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:52288907A>G	ENST00000371068.5	+	2	330	c.227A>G	c.(226-228)cAa>cGa	p.Q76R	EFHC1_ENST00000433625.2_Intron|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Missense_Mutation_p.Q57R	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	76						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)	p.Q76R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACTTATGGCCAACCTAAACAA	0.512																																						uc003pap.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(226-228)CAA>CGA		EF-hand domain (C-terminal) containing 1							76.0	72.0	74.0					6																	52288907		2203	4300	6503	SO:0001583	missense	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52288907A>G	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.227A>G	6.37:g.52288907A>G	ENSP00000360107:p.Gln76Arg					EFHC1_uc011dwv.1_Intron|EFHC1_uc011dww.1_Missense_Mutation_p.Q57R	p.Q76R	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			2	442	+	Lung NSC(77;0.109)		76					B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	c.227A>G	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	A	0.777	-0.763671	0.02996	.	.	ENSG00000096093	ENST00000371068;ENST00000538167	T;T	0.66460	-0.01;-0.21	5.45	2.98	0.34508	.	0.816568	0.11714	N	0.536659	T	0.21590	0.0520	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.06786	0.001;0.001	B;B	0.11329	0.006;0.003	T	0.21930	-1.0231	10	0.13470	T	0.59	-1.5551	6.0288	0.19669	0.7146:0.1448:0.1406:0.0	.	57;76	F5GZD8;Q5JVL4	.;EFHC1_HUMAN	R	76;57	ENSP00000360107:Q76R;ENSP00000444521:Q57R	ENSP00000360107:Q76R	Q	+	2	0	EFHC1	52396866	0.002000	0.14202	0.071000	0.20095	0.545000	0.35147	1.864000	0.39469	1.065000	0.40693	0.528000	0.53228	CAA		PASS	0.512	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		20	29	20	29	---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	72892190	72892190	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:72892190C>A	ENST00000521978.1	+	6	1016	c.1016C>A	c.(1015-1017)gCg>gAg	p.A339E	RIMS1_ENST00000520567.1_Missense_Mutation_p.A339E|RIMS1_ENST00000348717.5_Missense_Mutation_p.A339E|RIMS1_ENST00000517960.1_Missense_Mutation_p.A339E|RIMS1_ENST00000264839.7_Missense_Mutation_p.A339E|RIMS1_ENST00000518273.1_Missense_Mutation_p.A339E|RIMS1_ENST00000522291.1_Missense_Mutation_p.A339E|RIMS1_ENST00000491071.2_Missense_Mutation_p.A339E	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	339					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.A339E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAGGGCAAAGCGGCGGATGAG	0.572																																						uc003pga.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(1015-1017)GCG>GAG		regulating synaptic membrane exocytosis 1							32.0	41.0	39.0					6																	72892190		1971	4159	6130	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72892190C>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1016C>A	6.37:g.72892190C>A	ENSP00000428417:p.Ala339Glu					RIMS1_uc011dyb.1_5'UTR|RIMS1_uc003pgc.2_5'UTR|RIMS1_uc003pgb.3_5'UTR	p.A339E	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			6	1093	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	339					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.1016C>A	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	1.272	-0.612907	0.03690	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.12984	2.63;2.78;2.7;2.78;2.78;2.78;2.78;2.71	4.42	-3.0	0.05480	.	1.288760	0.05702	U	0.594314	T	0.01695	0.0054	N	0.14661	0.345	0.09310	N	0.999991	B	0.14805	0.011	B	0.13407	0.009	T	0.45366	-0.9266	10	0.32370	T	0.25	0.7615	1.429	0.02329	0.1894:0.2602:0.1243:0.4262	.	339	Q86UR5	RIMS1_HUMAN	E	339	ENSP00000430101:A339E;ENSP00000275037:A339E;ENSP00000264839:A339E;ENSP00000429959:A339E;ENSP00000430408:A339E;ENSP00000430502:A339E;ENSP00000430932:A339E;ENSP00000428417:A339E	ENSP00000264839:A339E	A	+	2	0	RIMS1	72948911	0.001000	0.12720	0.000000	0.03702	0.537000	0.34900	-0.171000	0.09883	-0.582000	0.05929	-1.581000	0.00855	GCG		PASS	0.572	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			6	9	6	9	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84904694	84904694	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:84904694T>G	ENST00000403245.3	-	10	1049	c.935A>C	c.(934-936)gAg>gCg	p.E312A	KIAA1009_ENST00000257766.4_Missense_Mutation_p.E236A|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.E312A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TGTGTTACTCTCAATTTTTTG	0.373																																						uc010kbp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(934-936)GAG>GCG		KIAA1009 protein							198.0	173.0	181.0					6																	84904694		2203	4299	6502	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84904694T>G																												ENST00000403245.3:c.935A>C	6.37:g.84904694T>G	ENSP00000385215:p.Glu312Ala					KIAA1009_uc003pkj.3_Missense_Mutation_p.E236A|KIAA1009_uc003pkk.2_Missense_Mutation_p.E312A|KIAA1009_uc003pki.3_5'UTR	p.E312A	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	10	1032	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	312						Missense_Mutation	SNP	ENST00000403245.3	37	c.935A>C	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	T	7.764	0.706109	0.15239	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.14766	2.48;2.48	4.76	3.55	0.40652	.	0.446986	0.20995	N	0.081966	T	0.08403	0.0209	M	0.72118	2.19	0.24617	N	0.993692	P;P	0.45531	0.649;0.86	B;P	0.44561	0.359;0.453	T	0.12656	-1.0539	10	0.33141	T	0.24	-4.959	9.8383	0.40982	0.0:0.0851:0.0:0.9149	.	312;312	Q5TB80;C9JFM9	QN1_HUMAN;.	A	236;312	ENSP00000257766:E236A;ENSP00000385215:E312A	ENSP00000257766:E236A	E	-	2	0	KIAA1009	84961413	0.882000	0.30256	0.033000	0.17914	0.021000	0.10359	1.618000	0.36954	0.750000	0.32877	0.455000	0.32223	GAG		PASS	0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			18	15	18	15	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112452297	112452297	+	Missense_Mutation	SNP	C	C	T	rs184696189		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:112452297C>T	ENST00000230538.7	-	29	4238	c.3841G>A	c.(3841-3843)Gtg>Atg	p.V1281M	LAMA4_ENST00000522006.1_Missense_Mutation_p.V1274M|LAMA4_ENST00000424408.2_Missense_Mutation_p.V1274M|LAMA4_ENST00000389463.4_Missense_Mutation_p.V1274M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1281	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.V1274M(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ATGGAGAACACGTCTGACTGA	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20245	0.001		0.0	False		,,,				2504	0.0					uc003pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(3841-3843)GTG>ATG		laminin, alpha 4 isoform 1 precursor							208.0	174.0	186.0					6																	112452297		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112452297C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3841G>A	6.37:g.112452297C>T	ENSP00000230538:p.Val1281Met					LAMA4_uc003pvv.2_Missense_Mutation_p.V1274M|LAMA4_uc003pvt.2_Missense_Mutation_p.V1274M	p.V1281M	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	29	4150	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1281			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3841G>A	CCDS43491.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.51	1.958500	0.34565	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.79	0.409	0.16382	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.338382	0.33875	N	0.004476	T	0.52773	0.1755	L	0.43152	1.355	0.80722	D	1	B;B	0.26845	0.161;0.133	B;B	0.24394	0.053;0.031	T	0.47971	-0.9075	10	0.34782	T	0.22	.	12.7869	0.57512	0.0:0.6281:0.0:0.3719	.	1281;1274	Q16363;Q16363-2	LAMA4_HUMAN;.	M	1281;1274;1274;1274	ENSP00000230538:V1281M;ENSP00000429488:V1274M;ENSP00000374114:V1274M;ENSP00000416470:V1274M	ENSP00000230538:V1281M	V	-	1	0	LAMA4	112558990	0.033000	0.19621	0.381000	0.26106	0.949000	0.60115	0.598000	0.24074	0.106000	0.17784	0.563000	0.77884	GTG		PASS	0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		31	54	31	54	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127797193	127797193	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:127797193G>A	ENST00000525778.1	-	6	2723	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W|SOGA3_ENST00000556132.1_Missense_Mutation_p.R660W			Q5TF21	SOGA3_HUMAN	SOGA family member 3	660					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R660W(1)									ACGTTCCTCCGCAGCAGCTCC	0.647																																						uc003qbd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(1978-1980)CGG>TGG		hypothetical protein LOC387104 precursor							52.0	57.0	55.0					6																	127797193		2186	4288	6474	SO:0001583	missense	387104					integral to membrane		g.chr6:127797193G>A	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.1978C>T	6.37:g.127797193G>A	ENSP00000434570:p.Arg660Trp					C6orf174_uc003qbc.2_5'Flank	p.R660W	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	2843	-			660			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.1978C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.418939	0.62622	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.55588	0.51;0.51;0.51;0.53	5.22	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	M	0.79123	2.44	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.72134	-0.4382	10	0.87932	D	0	-19.8518	14.8169	0.70041	0.0:0.0:0.7809:0.2191	.	660	Q5TF21	CF174_HUMAN	W	660	ENSP00000451768:R660W;ENSP00000357251:R660W;ENSP00000434570:R660W;ENSP00000435559:R660W	ENSP00000435559:R660W	R	-	1	2	C6orf174	127838886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.244000	0.43124	2.445000	0.82738	0.561000	0.74099	CGG		PASS	0.647	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		19	38	19	38	---	---	---	---
PTPRK	5796	broad.mit.edu	37	6	128718714	128718714	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:128718714G>C	ENST00000368215.3	-	2	219	c.220C>G	c.(220-222)Caa>Gaa	p.Q74E	PTPRK_ENST00000368227.3_Missense_Mutation_p.Q74E|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q74E|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q74E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000525459.1_Missense_Mutation_p.Q74E|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q74E|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q74E|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q74E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	74	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q74E(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCTCACCTTGGGGCATCTCG	0.413																																						uc003qbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1)	8						c.(220-222)CAA>GAA		protein tyrosine phosphatase, receptor type, K							177.0	181.0	179.0					6																	128718714		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128718714G>C	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.220C>G	6.37:g.128718714G>C	ENSP00000357198:p.Gln74Glu					PTPRK_uc003qbj.2_Missense_Mutation_p.Q74E|PTPRK_uc010kfc.2_Missense_Mutation_p.Q74E|PTPRK_uc011ebu.1_Missense_Mutation_p.Q74E|PTPRK_uc003qbl.1_Silent_p.P34P|PTPRK_uc011ebv.1_Missense_Mutation_p.Q74E|PTPRK_uc003qbm.3_Missense_Mutation_p.Q3E	p.Q74E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	2	587	-			74			Extracellular (Potential).|MAM.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.220C>G		.	.	.	.	.	.	.	.	.	.	G	3.636	-0.074625	0.07184	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.02067	4.47;4.47;4.47;4.47;4.47;4.47;4.47;4.47	5.54	5.54	0.83059	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.072401	0.56097	D	0.000031	T	0.01627	0.0052	N	0.20807	0.61	0.30667	N	0.753732	B;B;B;D;B;B	0.55800	0.041;0.035;0.409;0.973;0.017;0.013	B;B;B;P;B;B	0.57101	0.042;0.045;0.103;0.813;0.026;0.015	T	0.60219	-0.7306	10	0.15499	T	0.54	.	13.7463	0.62876	0.0:0.0:0.8463:0.1537	.	74;74;74;74;74;74	B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	E	74	ENSP00000357209:Q74E;ENSP00000357210:Q74E;ENSP00000432973:Q74E;ENSP00000357196:Q74E;ENSP00000357193:Q74E;ENSP00000357198:Q74E;ENSP00000357190:Q74E;ENSP00000434116:Q74E	ENSP00000357190:Q74E	Q	-	1	0	PTPRK	128760407	1.000000	0.71417	0.997000	0.53966	0.751000	0.42716	5.546000	0.67243	2.754000	0.94517	0.655000	0.94253	CAA		PASS	0.413	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			6	176	6	176	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129513893	129513893	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:129513893C>A	ENST00000421865.2	+	12	1726	c.1677C>A	c.(1675-1677)gaC>gaA	p.D559E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	559	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				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.D559E(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)		CCCAGCAGGACGACTTGGACT	0.547																																						uc003qbn.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(1)|skin(1)	10						c.(1675-1677)GAC>GAA		laminin alpha 2 subunit isoform a precursor							61.0	59.0	60.0					6																	129513893		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129513893C>A	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.1677C>A	6.37:g.129513893C>A	ENSP00000400365:p.Asp559Glu					LAMA2_uc003qbo.2_Missense_Mutation_p.D559E	p.D559E	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	12	1782	+			559			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1677C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999975	0.35320	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.33438	1.41	5.16	-6.35	0.01975	Laminin B type IV (1);	0.311179	0.31809	N	0.007022	T	0.08670	0.0215	L	0.52759	1.655	0.09310	N	1	B;B	0.24483	0.104;0.104	B;B	0.22601	0.027;0.04	T	0.22208	-1.0223	10	0.42905	T	0.14	.	9.7709	0.40589	0.0:0.4755:0.2015:0.323	.	559;559	A6NF00;P24043	.;LAMA2_HUMAN	E	559	ENSP00000400365:D559E	ENSP00000346769:D559E	D	+	3	2	LAMA2	129555586	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.900000	0.04097	-1.188000	0.02705	0.460000	0.39030	GAC		PASS	0.547	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			18	34	18	34	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134495880	134495880	+	Silent	SNP	T	T	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:134495880T>G	ENST00000237305.7	-	1	154	c.66A>C	c.(64-66)gcA>gcC	p.A22A	SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000528577.1_Intron|SGK1_ENST00000367857.5_5'UTR|SGK1_ENST00000367858.5_Intron|SGK1_ENST00000475719.2_Silent_p.A22A|SGK1_ENST00000413996.3_Intron	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	22	Necessary for localization to the mitochondria.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)	p.A22A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGATGAGAATTGCCACCATGC	0.537											OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qen.3																			1	Substitution - coding silent(1)		lung(1)	skin(3)|stomach(1)|lung(1)|central_nervous_system(1)	6						c.(64-66)GCA>GCC		serum/glucocorticoid regulated kinase 1 isoform							139.0	134.0	136.0					6																	134495880		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134495880T>G	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.66A>C	6.37:g.134495880T>G			OREG0017675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1611	SGK1_uc003qeo.3_Intron|SGK1_uc011ect.1_5'UTR|SGK1_uc011ecu.1_Silent_p.A22A|SGK1_uc011ecv.1_Intron|SGK1_uc011ecw.1_Intron	p.A22A	NM_005627	NP_005618	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	1	155	-	Colorectal(23;0.221)		22			Necessary for localization to the cytoplasm.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.66A>C	CCDS5170.1																																																																																				PASS	0.537	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			35	74	35	74	---	---	---	---
MAP7	9053	broad.mit.edu	37	6	136667017	136667017	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:136667017C>A	ENST00000354570.3	-	17	2626	c.2216G>T	c.(2215-2217)gGt>gTt	p.G739V	MAP7_ENST00000454590.1_Missense_Mutation_p.G761V|MAP7_ENST00000438100.2_Missense_Mutation_p.G724V|MAP7_ENST00000432797.2_Missense_Mutation_p.G593V|MAP7_ENST00000544465.1_Missense_Mutation_p.G724V	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	739					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.G739V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTCTGAACACCATCTACCTG	0.488																																						uc003qgz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2215-2217)GGT>GTT		microtubule-associated protein 7							79.0	71.0	74.0					6																	136667017		2203	4300	6503	SO:0001583	missense	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136667017C>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.2216G>T	6.37:g.136667017C>A	ENSP00000346581:p.Gly739Val					MAP7_uc011edf.1_Missense_Mutation_p.G724V|MAP7_uc011edg.1_Missense_Mutation_p.G769V|MAP7_uc010kgu.2_Missense_Mutation_p.G761V|MAP7_uc011edh.1_Missense_Mutation_p.G724V|MAP7_uc010kgv.2_Missense_Mutation_p.G761V|MAP7_uc010kgs.2_Missense_Mutation_p.G593V|MAP7_uc011edi.1_Missense_Mutation_p.G593V|MAP7_uc010kgq.1_Missense_Mutation_p.G645V|MAP7_uc003qha.1_Missense_Mutation_p.G702V	p.G739V	NM_003980	NP_003971	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	17	2462	-	Colorectal(23;0.24)		739					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Missense_Mutation	SNP	ENST00000354570.3	37	c.2216G>T	CCDS5178.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699243	0.68501	.	.	ENSG00000135525	ENST00000354570;ENST00000454590;ENST00000544465;ENST00000438100;ENST00000432797;ENST00000345567	T;T;T;T;T	0.14640	2.51;2.5;2.5;2.49;2.51	6.05	6.05	0.98169	.	0.105775	0.42053	D	0.000763	T	0.22742	0.0549	L	0.51422	1.61	0.45791	D	0.998672	D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999;0.993;1.0	P;P;D;D;D;P;D	0.77004	0.895;0.895;0.989;0.975;0.951;0.886;0.975	T	0.00200	-1.1927	10	0.87932	D	0	-14.5191	13.1952	0.59734	0.0:0.8874:0.0:0.1126	.	724;761;724;761;645;702;739	B7Z290;B7ZB64;F5H1E2;E9PCP3;F8W783;Q14244-2;Q14244	.;.;.;.;.;.;MAP7_HUMAN	V	739;761;724;724;593;645	ENSP00000346581:G739V;ENSP00000414712:G761V;ENSP00000445737:G724V;ENSP00000400790:G724V;ENSP00000414879:G593V	ENSP00000344217:G645V	G	-	2	0	MAP7	136708710	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.764000	0.38471	2.880000	0.98712	0.655000	0.94253	GGT		PASS	0.488	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		20	31	20	31	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152655215	152655215	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:152655215T>C	ENST00000367255.5	-	77	13323	c.12722A>G	c.(12721-12723)gAt>gGt	p.D4241G	SYNE1_ENST00000265368.4_Missense_Mutation_p.D4241G|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4170G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4106G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D4170G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4241					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.D4241G(2)|p.D4170G(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCATGGTAATCTCTTGTTCT	0.403										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12721-12723)GAT>GGT		spectrin repeat containing, nuclear envelope 1							203.0	190.0	194.0					6																	152655215		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152655215T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12722A>G	6.37:g.152655215T>C	ENSP00000356224:p.Asp4241Gly	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.D4170G|SYNE1_uc003qou.3_Missense_Mutation_p.D4241G|SYNE1_uc010kiz.2_5'UTR	p.D4241G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	77	13324	-		Ovarian(120;0.0955)	4241			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.12722A>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965222	0.34659	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.71	4.56	0.56223	.	0.281785	0.30446	N	0.009603	T	0.25419	0.0618	M	0.62723	1.935	0.80722	D	1	B;B;P	0.36789	0.434;0.434;0.57	B;B;B	0.40864	0.185;0.185;0.342	T	0.06127	-1.0844	10	0.52906	T	0.07	.	10.8777	0.46921	0.0:0.0742:0.0:0.9258	.	4241;4241;4170	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	G	4241;4170;4241;4170;4106	ENSP00000356224:D4241G;ENSP00000396024:D4170G;ENSP00000265368:D4241G;ENSP00000390975:D4170G;ENSP00000341887:D4106G	ENSP00000265368:D4241G	D	-	2	0	SYNE1	152696908	0.960000	0.32886	0.997000	0.53966	0.735000	0.41995	3.365000	0.52335	1.018000	0.39521	0.533000	0.62120	GAT		PASS	0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	110	5	110	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152665306	152665306	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:152665306C>A	ENST00000367255.5	-	74	12736	c.12135G>T	c.(12133-12135)ctG>ctT	p.L4045L	SYNE1_ENST00000265368.4_Silent_p.L4045L|SYNE1_ENST00000423061.1_Silent_p.L3974L|SYNE1_ENST00000341594.5_Silent_p.L3910L|SYNE1_ENST00000448038.1_Silent_p.L3974L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4045					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L4045L(2)|p.L3974L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGCACTGCTGCAGGGTGTCTT	0.488										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(12133-12135)CTG>CTT		spectrin repeat containing, nuclear envelope 1							129.0	124.0	126.0					6																	152665306		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152665306C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12135G>T	6.37:g.152665306C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.L3974L|SYNE1_uc003qou.3_Silent_p.L4045L|SYNE1_uc010kja.1_Silent_p.L750L	p.L4045L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	74	12737	-		Ovarian(120;0.0955)	4045			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.12135G>T	CCDS5236.2																																																																																				PASS	0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		51	56	51	56	---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158487553	158487553	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:158487553G>T	ENST00000355585.4	+	12	1678	c.1603G>T	c.(1603-1605)Ggg>Tgg	p.G535W	SYNJ2_ENST00000367121.3_Missense_Mutation_p.G535W|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G535W|SYNJ2_ENST00000449859.2_Missense_Mutation_p.G463W	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	535					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.G535W(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GATTGCTATGGGGACCTGGAA	0.567																																						uc003qqx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1603-1605)GGG>TGG		synaptojanin 2							103.0	93.0	97.0					6																	158487553		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158487553G>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1603G>T	6.37:g.158487553G>T	ENSP00000347792:p.Gly535Trp					SYNJ2_uc011efm.1_RNA|SYNJ2_uc003qqw.1_Missense_Mutation_p.G535W|SYNJ2_uc003qqy.1_Missense_Mutation_p.G248W|SYNJ2_uc011efn.1_Missense_Mutation_p.G463W|SYNJ2_uc010kjo.1_Missense_Mutation_p.G484W|SYNJ2_uc003qqz.1_Missense_Mutation_p.G152W	p.G535W	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	12	1678	+			535			Catalytic (By similarity).		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1603G>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347925	0.82022	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449859	D;D;D;D	0.95447	-1.52;-1.52;-1.52;-3.71	5.27	5.27	0.74061	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000017	D	0.98661	0.9551	H	0.96916	3.905	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99768	1.1023	10	0.87932	D	0	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	463;535;535;535	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	W	535;535;535;463	ENSP00000356089:G535W;ENSP00000356088:G535W;ENSP00000347792:G535W;ENSP00000388371:G463W	ENSP00000347792:G535W	G	+	1	0	SYNJ2	158407541	1.000000	0.71417	0.996000	0.52242	0.532000	0.34746	9.746000	0.98859	2.492000	0.84095	0.456000	0.33151	GGG		PASS	0.567	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			27	50	27	50	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167754494	167754494	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:167754494T>A	ENST00000239587.5	+	3	1194	c.1106T>A	c.(1105-1107)cTc>cAc	p.L369H		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	369	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.L369H(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGCTTTGAGCTCTTTGGGTTT	0.448																																						uc003qvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1105-1107)CTC>CAC		tubulin tyrosine ligase-like family, member 2							192.0	198.0	196.0					6																	167754494		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754494T>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1106T>A	6.37:g.167754494T>A	ENSP00000239587:p.Leu369His					TTLL2_uc011egr.1_RNA	p.L369H	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	1194	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	369			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.1106T>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470721	0.63625	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.09073	3.02	3.75	3.75	0.43078	ATP-grasp fold, subdomain 2 (1);	0.000000	0.56097	D	0.000038	T	0.32823	0.0842	H	0.97315	3.98	0.45899	D	0.998747	D	0.89917	1.0	D	0.91635	0.999	T	0.53034	-0.8495	10	0.87932	D	0	.	11.7251	0.51704	0.0:0.0:0.0:1.0	.	369	Q9BWV7	TTLL2_HUMAN	H	369;296	ENSP00000239587:L369H	ENSP00000239587:L369H	L	+	2	0	TTLL2	167674484	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.846000	0.69444	1.691000	0.51100	0.402000	0.26972	CTC		PASS	0.448	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		90	140	90	140	---	---	---	---
TRA2A	29896	broad.mit.edu	37	7	23552617	23552617	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:23552617G>C	ENST00000297071.4	-	4	637	c.421C>G	c.(421-423)Cga>Gga	p.R141G	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.R40G|TRA2A_ENST00000392502.4_Missense_Mutation_p.R40G	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	141	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R141G(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GGTCCATATCGAGAAAATACT	0.418																																					Pancreas(121;2137 2973 46590)	uc003swi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)CGA>GGA		transformer-2 alpha							97.0	84.0	88.0					7																	23552617		2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23552617G>C	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.421C>G	7.37:g.23552617G>C	ENSP00000297071:p.Arg141Gly					TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R40G|TRA2A_uc011jzd.1_Missense_Mutation_p.R40G|TRA2A_uc010kuo.1_RNA	p.R141G	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			4	635	-			141			RRM.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.421C>G	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281852	0.80692	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.15139	2.45;2.45;2.45	5.27	4.37	0.52481	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.30386	0.0763	L	0.38175	1.15	0.53688	D	0.999976	D	0.57899	0.981	D	0.63488	0.915	T	0.03597	-1.1021	10	0.66056	D	0.02	-3.4749	15.2028	0.73153	0.0:0.0:0.8579:0.1421	.	141	Q13595	TRA2A_HUMAN	G	141;40;40	ENSP00000297071:R141G;ENSP00000376290:R40G;ENSP00000441116:R40G	ENSP00000297071:R141G	R	-	1	2	TRA2A	23519142	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.932000	0.56537	1.201000	0.43203	0.306000	0.20318	CGA		PASS	0.418	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		40	21	40	21	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30490872	30490872	+	Missense_Mutation	SNP	G	G	A	rs371304122		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:30490872G>A	ENST00000222823.4	-	6	2686	c.2161C>T	c.(2161-2163)Cgg>Tgg	p.R721W		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	721					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.R721W(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCAGCTCCCGCACGCCGTAG	0.657																																						uc003tav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2161-2163)CGG>TGG		nucleotide-binding oligomerization domain		G	TRP/ARG	0,4406		0,0,2203	55.0	57.0	56.0		2161	3.7	0.7	7		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD1	NM_006092.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	721/954	30490872	1,13005	2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30490872G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2161C>T	7.37:g.30490872G>A	ENSP00000222823:p.Arg721Trp						p.R721W	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	2684	-			721			LRR 2.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2161C>T	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335907	0.24253	0.0	1.16E-4	ENSG00000106100	ENST00000222823	T	0.54279	0.58	5.71	3.73	0.42828	.	0.268637	0.40908	D	0.000993	T	0.41213	0.1149	L	0.51422	1.61	0.80722	D	1	P	0.49635	0.926	B	0.34536	0.185	T	0.50154	-0.8861	10	0.72032	D	0.01	.	11.7612	0.51903	0.0:0.0:0.4566:0.5434	.	721	Q9Y239	NOD1_HUMAN	W	721	ENSP00000222823:R721W	ENSP00000222823:R721W	R	-	1	2	NOD1	30457397	1.000000	0.71417	0.718000	0.30602	0.200000	0.23975	2.586000	0.46119	1.411000	0.46957	0.655000	0.94253	CGG		PASS	0.657	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			32	30	32	30	---	---	---	---
FAM188B	84182	broad.mit.edu	37	7	30893027	30893027	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:30893027G>T	ENST00000265299.6	+	12	1706	c.1629G>T	c.(1627-1629)ttG>ttT	p.L543F	AQP1_ENST00000509504.1_Missense_Mutation_p.L6F|AQP1_ENST00000434909.2_5'UTR|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	543								p.L543F(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCACAGTTTGACCTGCTATG	0.498																																						uc003tbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1627-1629)TTG>TTT		hypothetical protein LOC84182							121.0	120.0	120.0					7																	30893027		2016	4182	6198	SO:0001583	missense	84182							g.chr7:30893027G>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1629G>T	7.37:g.30893027G>T	ENSP00000265299:p.Leu543Phe					FAM188B_uc010kwe.2_Missense_Mutation_p.L514F|AQP1_uc011kac.1_5'UTR	p.L543F	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			12	1706	+			543					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.1629G>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429027	0.25726	.	.	ENSG00000106125;ENSG00000250424	ENST00000265299;ENST00000509504	T;T	0.28895	1.59;1.59	4.78	1.98	0.26296	.	0.783752	0.11082	N	0.601730	T	0.16896	0.0406	N	0.11845	0.185	0.80722	D	1	B	0.22003	0.063	B	0.23419	0.046	T	0.07539	-1.0767	10	0.87932	D	0	-1.1034	4.8833	0.13690	0.1911:0.1756:0.6333:0.0	.	543	Q4G0A6	F188B_HUMAN	F	543;6	ENSP00000265299:L543F;ENSP00000421315:L6F	ENSP00000265299:L543F	L	+	3	2	RP5-877J2.1;FAM188B	30859552	1.000000	0.71417	0.642000	0.29436	0.621000	0.37620	1.743000	0.38258	0.332000	0.23536	0.561000	0.74099	TTG		PASS	0.498	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		8	25	8	25	---	---	---	---
AOAH	313	broad.mit.edu	37	7	36698786	36698786	+	Silent	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:36698786G>C	ENST00000258749.5	-	4	774	c.375C>G	c.(373-375)ctC>ctG	p.L125L	AOAH_ENST00000431169.1_Silent_p.L125L|AOAH_ENST00000535891.1_Silent_p.L93L	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	125					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.L125L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GAAGAGGGTAGAGATGACACA	0.458																																						uc003tfh.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(373-375)CTC>CTG		acyloxyacyl hydrolase precursor							218.0	179.0	193.0					7																	36698786		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36698786G>C	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.375C>G	7.37:g.36698786G>C						AOAH_uc010kxf.2_Silent_p.L125L|AOAH_uc011kba.1_Silent_p.L93L	p.L125L	NM_001637	NP_001628	P28039	AOAH_HUMAN			4	776	-			125					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.375C>G	CCDS5448.1																																																																																				PASS	0.458	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2	NM_001637		71	64	71	64	---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37311438	37311438	+	Splice_Site	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:37311438G>A	ENST00000310758.4	-	5	889	c.242C>T	c.(241-243)cCa>cTa	p.P81L	ELMO1_ENST00000442504.1_Splice_Site_p.P81L|ELMO1_ENST00000448602.1_Splice_Site_p.P81L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	81					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.P81L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCAACTTACTGGAGATGTGGT	0.358																																						uc003tfk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(241-243)CCA>CTA		engulfment and cell motility 1 isoform 1							140.0	144.0	143.0					7																	37311438		2203	4300	6503	SO:0001630	splice_region_variant	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37311438G>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.243+1C>T	7.37:g.37311438G>A						ELMO1_uc011kbc.1_5'UTR|ELMO1_uc010kxg.1_Missense_Mutation_p.P81L	p.P81L	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			5	549	-			81					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.242C>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389401	0.82902	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399	T;T;T;T;T;T	0.78595	1.45;1.45;1.45;0.54;0.59;-1.19	4.79	4.79	0.61399	.	0.058199	0.64402	D	0.000001	D	0.86322	0.5905	M	0.84326	2.69	0.80722	D	1	D	0.55172	0.97	P	0.58873	0.847	D	0.87645	0.2524	10	0.87932	D	0	.	13.6483	0.62294	0.0:0.0:1.0:0.0	.	81	Q92556	ELMO1_HUMAN	L	81	ENSP00000312185:P81L;ENSP00000406952:P81L;ENSP00000394458:P81L;ENSP00000406610:P81L;ENSP00000416090:P81L;ENSP00000391734:P81L	ENSP00000312185:P81L	P	-	2	0	ELMO1	37277963	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	4.990000	0.63876	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.358	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	Missense_Mutation	34	89	34	89	---	---	---	---
TRGV8	6982	broad.mit.edu	37	7	38370123	38370123	+	RNA	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:38370123C>A	ENST00000390343.2	-	0	288				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		GGGGCCTTCCCCTCCTGGTGT	0.483																																						uc010kxj.1																			0											c.(175-177)GGG>TGG		SubName: Full=Putative uncharacterized protein ENSP00000374866;							96.0	94.0	95.0					7																	38370123		1916	4128	6044			0							g.chr7:38370123C>A	M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370123C>A						uc010kxk.1_RNA	p.G59W							2	311	-									Missense_Mutation	SNP	ENST00000390343.2	37	c.175G>T																																																																																					PASS	0.483	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338399.4	NG_001336		34	87	34	87	---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43918685	43918685	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:43918685T>C	ENST00000453200.1	-	6	870	c.377A>G	c.(376-378)aAt>aGt	p.N126S	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.N117S|URGCP_ENST00000336086.6_Missense_Mutation_p.N83S|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Missense_Mutation_p.N83S|URGCP_ENST00000447717.3_Missense_Mutation_p.N83S|URGCP_ENST00000443736.1_Missense_Mutation_p.N83S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	126					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)	p.N83S(1)|p.N126S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCATCAGCATTGAGGGCCTG	0.542																																						uc003tiw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|liver(1)|skin(1)	4						c.(376-378)AAT>AGT		up-regulated gene 4 isoform 3							81.0	85.0	84.0					7																	43918685		1957	4148	6105	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43918685T>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.377A>G	7.37:g.43918685T>C	ENSP00000396918:p.Asn126Ser					URGCP_uc003tiu.2_Missense_Mutation_p.N83S|URGCP_uc003tiv.2_Missense_Mutation_p.N51S|URGCP_uc003tix.2_Missense_Mutation_p.N117S|URGCP_uc003tiy.2_Missense_Mutation_p.N83S|URGCP_uc003tiz.2_Missense_Mutation_p.N83S|URGCP_uc011kbj.1_Missense_Mutation_p.N83S	p.N126S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN			6	434	-			126					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.377A>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951153	0.34471	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717;ENST00000426198;ENST00000455877	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.6	4.45	0.53987	.	0.262149	0.42821	N	0.000660	T	0.36138	0.0956	M	0.73217	2.22	0.29347	N	0.865634	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.005	T	0.34925	-0.9809	10	0.48119	T	0.1	-27.6693	8.3097	0.32064	0.0:0.0897:0.0:0.9103	.	117;126	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	S	83;83;117;83;126;83;83;83	ENSP00000223341:N83S;ENSP00000336872:N83S;ENSP00000384955:N117S;ENSP00000392136:N83S;ENSP00000396918:N126S;ENSP00000402803:N83S;ENSP00000389990:N83S	ENSP00000223341:N83S	N	-	2	0	URGCP	43885210	0.982000	0.34865	0.626000	0.29213	0.949000	0.60115	1.934000	0.40163	0.958000	0.37956	0.533000	0.62120	AAT		PASS	0.542	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		58	62	58	62	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44796711	44796711	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:44796711C>T	ENST00000309315.4	+	4	454	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R111C|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R79C|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R111C|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R79C	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	111	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.R111C(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CGTGTACAGCCGCGGGGGCTA	0.652																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(331-333)CGC>TGC		zinc finger, MIZ-type containing 2 isoform 1																																				SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44796711C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.331C>T	7.37:g.44796711C>T	ENSP00000311778:p.Arg111Cys					ZMIZ2_uc003tlq.2_Missense_Mutation_p.R79C|ZMIZ2_uc003tls.2_Missense_Mutation_p.R111C|ZMIZ2_uc003tlt.2_5'Flank|ZMIZ2_uc010kyj.2_5'Flank	p.R111C	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			4	454	+			111			Gly-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.331C>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886742	0.72410	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	4.9	4.02	0.46733	.	0.000000	0.53938	D	0.000042	T	0.53286	0.1787	M	0.71036	2.16	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.944;0.999;0.944	T	0.58126	-0.7691	10	0.87932	D	0	-8.481	12.8859	0.58042	0.0:0.9207:0.0:0.0793	.	111;111;79	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	C	79;111;111;79;111;111	ENSP00000409648:R79C;ENSP00000311778:R111C;ENSP00000414723:R111C;ENSP00000396601:R79C;ENSP00000265346:R111C	ENSP00000265346:R111C	R	+	1	0	ZMIZ2	44763236	1.000000	0.71417	0.995000	0.50966	0.695000	0.40330	4.277000	0.58939	1.285000	0.44548	0.561000	0.74099	CGC		PASS	0.652	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		16	13	16	13	---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56125742	56125742	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:56125742G>A	ENST00000275603.4	+	6	890	c.671G>A	c.(670-672)aGg>aAg	p.R224K	CCT6A_ENST00000540286.1_Missense_Mutation_p.R193K|CCT6A_ENST00000335503.3_Missense_Mutation_p.R179K|SNORA22_ENST00000383876.1_RNA|SNORA15_ENST00000384439.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	224					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.R224K(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATGAAGAAAAGGGTGGAGGAT	0.398																																						uc003trl.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(670-672)AGG>AAG		chaperonin containing TCP1, subunit 6A isoform							90.0	81.0	84.0					7																	56125742		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56125742G>A	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.671G>A	7.37:g.56125742G>A	ENSP00000275603:p.Arg224Lys					PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.R179K|CCT6A_uc011kcu.1_Missense_Mutation_p.R193K|SNORA15_uc003trn.1_5'Flank	p.R224K	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	835	+	Breast(14;0.214)		224					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.671G>A	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274353	0.59649	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78707	-1.2;-1.2;-1.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	L	0.35288	1.05	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.17098	0.017;0.006;0.005	T	0.63510	-0.6621	10	0.28530	T	0.3	-14.8728	18.2943	0.90140	0.0:0.0:1.0:0.0	.	193;179;224	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	K	224;179;193;82	ENSP00000275603:R224K;ENSP00000352019:R179K;ENSP00000438488:R193K	ENSP00000275603:R224K	R	+	2	0	CCT6A	56093236	1.000000	0.71417	0.994000	0.49952	0.690000	0.40134	8.970000	0.93415	2.663000	0.90544	0.484000	0.47621	AGG		PASS	0.398	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		18	51	18	51	---	---	---	---
KIAA1324L	222223	broad.mit.edu	37	7	86526942	86526942	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:86526942G>C	ENST00000450689.2	-	19	2750	c.2565C>G	c.(2563-2565)tgC>tgG	p.C855W	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.C784W|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.C615W|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.C688W	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	855						integral component of membrane (GO:0016021)		p.C855W(1)|p.C615W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACCTGCTGGGCACTTGCTAA	0.448																																						uc011kha.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(1)	7						c.(2563-2565)TGC>TGG		hypothetical protein LOC222223 isoform 1							79.0	69.0	72.0					7																	86526942		2203	4300	6503	SO:0001583	missense	222223					integral to membrane		g.chr7:86526942G>C	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2565C>G	7.37:g.86526942G>C	ENSP00000413445:p.Cys855Trp					KIAA1324L_uc003uif.1_Missense_Mutation_p.C615W|KIAA1324L_uc011kgz.1_Missense_Mutation_p.C741W|KIAA1324L_uc003uie.2_Missense_Mutation_p.C688W	p.C855W	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN			19	2750	-	Esophageal squamous(14;0.0058)		855			Extracellular (Potential).		A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	ENST00000450689.2	37	c.2565C>G	CCDS47632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.61|16.61	3.171154|3.171154	0.57584|0.57584	.|.	.|.	ENSG00000164659|ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314|ENST00000423294	T;T;T;T|.	0.03889|.	3.77;3.77;3.77;3.77|.	5.59|5.59	-2.23|-2.23	0.06930|0.06930	Mannose-6-phosphate receptor, binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73225|0.73225	0.3560|0.3560	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	T|T	0.75091|0.75091	-0.3440|-0.3440	10|5	0.87932|.	D|.	0|.	.|.	11.7832|11.7832	0.52026|0.52026	0.5273:0.0:0.4727:0.0|0.5273:0.0:0.4727:0.0	.|.	855;615;688|.	A8MWY0;A8MWY0-2;B4DJV3|.	K132L_HUMAN;.;.|.	W|A	855;615;784;688|816	ENSP00000413445:C855W;ENSP00000297222:C615W;ENSP00000397377:C784W;ENSP00000402390:C688W|.	ENSP00000297222:C615W|.	C|P	-|-	3|1	2|0	KIAA1324L|KIAA1324L	86364878|86364878	0.959000|0.959000	0.32827|0.32827	0.993000|0.993000	0.49108|0.49108	0.917000|0.917000	0.54804|0.54804	0.181000|0.181000	0.16880|0.16880	-0.279000|-0.279000	0.09167|0.09167	0.650000|0.650000	0.86243|0.86243	TGC|CCC		PASS	0.448	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748		20	36	20	36	---	---	---	---
RUNDC3B	154661	broad.mit.edu	37	7	87400022	87400022	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:87400022G>T	ENST00000338056.3	+	8	1217	c.806G>T	c.(805-807)tGt>tTt	p.C269F	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.C252F|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.C252F	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	269								p.C269F(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TTCAACAAGTGTAAGAGAGTT	0.393																																						uc003ujb.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(805-807)TGT>TTT		RUN domain containing 3B isoform a							80.0	73.0	75.0					7																	87400022		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87400022G>T		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.806G>T	7.37:g.87400022G>T	ENSP00000337732:p.Cys269Phe					RUNDC3B_uc011khd.1_Missense_Mutation_p.C252F|RUNDC3B_uc011khe.1_Missense_Mutation_p.C252F|RUNDC3B_uc003ujc.2_Missense_Mutation_p.C252F|RUNDC3B_uc003ujd.2_Missense_Mutation_p.C174F	p.C269F	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN			8	1217	+	Esophageal squamous(14;0.00164)		269					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.806G>T	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732240	0.69189	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.42513	0.97;0.97;0.97	5.51	5.51	0.81932	.	0.043281	0.85682	D	0.000000	T	0.52403	0.1732	L	0.52573	1.65	0.80722	D	1	D;D;D;D;P	0.64830	0.989;0.989;0.983;0.994;0.913	P;P;P;P;P	0.56865	0.726;0.726;0.735;0.808;0.459	T	0.37842	-0.9688	10	0.11485	T	0.65	-14.023	19.4269	0.94746	0.0:0.0:1.0:0.0	.	252;252;174;252;269	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	F	269;252;252	ENSP00000337732:C269F;ENSP00000420394:C252F;ENSP00000378149:C252F	ENSP00000337732:C269F	C	+	2	0	RUNDC3B	87237958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.256000	0.95535	2.553000	0.86117	0.650000	0.86243	TGT		PASS	0.393	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		13	38	13	38	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88963673	88963673	+	Silent	SNP	G	G	T	rs553773938		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:88963673G>T	ENST00000333190.4	+	4	1986	c.1377G>T	c.(1375-1377)acG>acT	p.T459T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	459							metal ion binding (GO:0046872)	p.T459T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AATGGCCTACGGAACTTCTGC	0.428										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1375-1377)ACG>ACT		zinc finger protein 804B							73.0	69.0	70.0					7																	88963673		2199	4300	6499	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88963673G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1377G>T	7.37:g.88963673G>T		HNSCC(36;0.09)					p.T459T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1915	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		459					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1377G>T	CCDS5613.1																																																																																				PASS	0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		30	65	30	65	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103183274	103183274	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:103183274C>T	ENST00000428762.1	-	43	6734	c.6575G>A	c.(6574-6576)cGa>cAa	p.R2192Q	RELN_ENST00000343529.5_Missense_Mutation_p.R2192Q|RELN_ENST00000424685.2_Missense_Mutation_p.R2192Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2192					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R2192Q(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCACACTTTCGAGATGGTTT	0.393																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			2	Substitution - Missense(2)		lung(1)|pancreas(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(6574-6576)CGA>CAA		reelin isoform a							97.0	93.0	95.0					7																	103183274		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103183274C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6575G>A	7.37:g.103183274C>T	ENSP00000392423:p.Arg2192Gln					RELN_uc010liz.2_Missense_Mutation_p.R2192Q	p.R2192Q	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	43	6735	-			2192					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6575G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880591	0.91740	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	5.79	5.79	0.91817	Neuraminidase (1);	0.061189	0.64402	D	0.000010	T	0.34048	0.0884	N	0.20530	0.585	0.54753	D	0.999988	D;P	0.89917	1.0;0.651	D;B	0.75020	0.985;0.191	T	0.06232	-1.0838	10	0.41790	T	0.15	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	2192;2192	P78509-2;P78509	.;RELN_HUMAN	Q	2192	ENSP00000392423:R2192Q;ENSP00000345694:R2192Q;ENSP00000388446:R2192Q	ENSP00000345694:R2192Q	R	-	2	0	RELN	102970510	1.000000	0.71417	0.991000	0.47740	0.985000	0.73830	7.076000	0.76806	2.727000	0.93392	0.591000	0.81541	CGA		PASS	0.393	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		9	77	9	77	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108155826	108155826	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:108155826T>C	ENST00000422087.1	-	4	516	c.110A>G	c.(109-111)cAt>cGt	p.H37R	PNPLA8_ENST00000388728.5_Missense_Mutation_p.H37R|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.H37R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.H37R|PNPLA8_ENST00000453144.1_5'UTR|PNPLA8_ENST00000426128.2_Missense_Mutation_p.H37R	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	37					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)	p.H37R(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCCAGTAATGCTTAGGTGA	0.368																																						uc003vff.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(109-111)CAT>CGT		patatin-like phospholipase domain containing 8							153.0	130.0	137.0					7																	108155826		2202	4300	6502	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155826T>C	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.110A>G	7.37:g.108155826T>C	ENSP00000410804:p.His37Arg					PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.H37R|PNPLA8_uc003vfi.1_5'UTR|PNPLA8_uc003vfj.1_Missense_Mutation_p.H37R|PNPLA8_uc003vfk.1_5'UTR	p.H37R	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN			4	517	-			37					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.110A>G	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	T	8.306	0.821095	0.16678	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000436062;ENST00000427008;ENST00000415498	D;D;D;D;D	0.97772	-3.33;-4.53;-3.33;-4.53;-4.53	5.32	2.72	0.32119	.	1.024840	0.07748	N	0.948162	D	0.95020	0.8388	L	0.51422	1.61	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	D	0.87097	0.2176	10	0.24483	T	0.36	.	5.1002	0.14754	0.3664:0.0:0.2439:0.3897	.	37	Q9NP80	PLPL8_HUMAN	R	37	ENSP00000394988:H37R;ENSP00000257694:H37R;ENSP00000373380:H37R;ENSP00000410804:H37R;ENSP00000406779:H37R	ENSP00000257694:H37R	H	-	2	0	PNPLA8	107943062	0.001000	0.12720	0.018000	0.16275	0.867000	0.49689	0.659000	0.24994	0.809000	0.34255	0.377000	0.23210	CAT		PASS	0.368	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		30	22	30	22	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117450887	117450887	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:117450887C>A	ENST00000160373.3	-	3	437	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	116					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.A116S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGCAGTGGGCCATGACTGCT	0.512																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(346-348)GCC>TCC		cortactin binding protein 2							209.0	198.0	202.0					7																	117450887		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117450887C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.346G>T	7.37:g.117450887C>A	ENSP00000160373:p.Ala116Ser						p.A116S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	438	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		116					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.346G>T	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758558	0.49468	.	.	ENSG00000077063	ENST00000160373;ENST00000434890;ENST00000454375;ENST00000412853	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.77	4.9	0.64082	Cortactin-binding protein-2, N-terminal (1);	0.143817	0.64402	D	0.000007	T	0.36358	0.0964	N	0.12961	0.28	0.51233	D	0.999919	B	0.34349	0.45	B	0.42138	0.377	T	0.31024	-0.9958	10	0.45353	T	0.12	-5.4416	10.2192	0.43188	0.1345:0.7972:0.0:0.0683	.	116	Q8WZ74	CTTB2_HUMAN	S	116;74;74;74	ENSP00000160373:A116S;ENSP00000396014:A74S;ENSP00000405831:A74S;ENSP00000393373:A74S	ENSP00000160373:A116S	A	-	1	0	CTTNBP2	117238123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.866000	0.39489	1.582000	0.49881	0.655000	0.94253	GCC		PASS	0.512	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		83	173	83	173	---	---	---	---
SMO	6608	broad.mit.edu	37	7	128845131	128845131	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:128845131G>T	ENST00000249373.3	+	3	905	c.625G>T	c.(625-627)Gac>Tac	p.D209Y		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	209					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D209Y(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	CTGGTACGAGGACGTGGAGGG	0.607			Mis		skin basal cell																																	uc003vor.2				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(625-627)GAC>TAC		smoothened precursor							71.0	64.0	66.0					7																	128845131		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128845131G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.625G>T	7.37:g.128845131G>T	ENSP00000249373:p.Asp209Tyr					SMO_uc003vos.2_5'Flank	p.D209Y	NM_005631	NP_005622	Q99835	SMO_HUMAN			3	905	+			209			Extracellular (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.625G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	33	5.229035	0.95173	.	.	ENSG00000128602	ENST00000249373	T	0.79554	-1.28	5.75	5.75	0.90469	.	0.042756	0.85682	D	0.000000	D	0.85461	0.5702	L	0.42245	1.32	0.80722	D	1	D	0.71674	0.998	P	0.60789	0.879	D	0.86076	0.1541	10	0.66056	D	0.02	.	18.9302	0.92561	0.0:0.0:1.0:0.0	.	209	Q99835	SMO_HUMAN	Y	209	ENSP00000249373:D209Y	ENSP00000249373:D209Y	D	+	1	0	SMO	128632367	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.791000	0.99081	2.720000	0.93068	0.555000	0.69702	GAC		PASS	0.607	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		22	22	22	22	---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135287563	135287563	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:135287563C>T	ENST00000285968.6	+	18	2549	c.2523C>T	c.(2521-2523)caC>caT	p.H841H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	841					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.H841H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGAAAAAACACCTGGAGAAAG	0.338																																						uc003vsw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(2521-2523)CAC>CAT		nucleoporin 205kDa							72.0	77.0	75.0					7																	135287563		2202	4300	6502	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135287563C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2523C>T	7.37:g.135287563C>T							p.H841H	NM_015135	NP_055950	Q92621	NU205_HUMAN			18	2554	+			841					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.2523C>T	CCDS34759.1																																																																																				PASS	0.338	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			35	43	35	43	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136700020	136700020	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:136700020C>A	ENST00000445907.2	+	3	936	c.408C>A	c.(406-408)acC>acA	p.T136T	hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Silent_p.T136T|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.T136T|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.T136T|CHRM2_ENST00000401861.1_Silent_p.T136T|CHRM2_ENST00000320658.5_Silent_p.T136T|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	136					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.T136T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCAAGCGGACCACAAAAATGG	0.488																																						uc003vtf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(406-408)ACC>ACA		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						86.0	85.0	85.0					7																	136700020		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700020C>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.408C>A	7.37:g.136700020C>A						CHRM2_uc003vtg.1_Silent_p.T136T|CHRM2_uc003vtj.1_Silent_p.T136T|CHRM2_uc003vtk.1_Silent_p.T136T|CHRM2_uc003vtl.1_Silent_p.T136T|CHRM2_uc003vtm.1_Silent_p.T136T|CHRM2_uc003vti.1_Silent_p.T136T|CHRM2_uc003vto.1_Silent_p.T136T|CHRM2_uc003vtn.1_Silent_p.T136T|uc003vtp.1_Intron	p.T136T	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1031	+			136			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.408C>A	CCDS5843.1																																																																																				PASS	0.488	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			31	74	31	74	---	---	---	---
TAS2R3	50831	broad.mit.edu	37	7	141464890	141464890	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:141464890A>G	ENST00000247879.2	+	1	994	c.932A>G	c.(931-933)aAg>aGg	p.K311R	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	311					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.K311R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGGATCCAAGGGACCCATT	0.507																																						uc003vwp.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(931-933)AAG>AGG		taste receptor T2R3							73.0	72.0	73.0					7																	141464890		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464890A>G	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.932A>G	7.37:g.141464890A>G	ENSP00000247879:p.Lys311Arg						p.K311R	NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN			1	994	+	Melanoma(164;0.0171)		311			Cytoplasmic (Potential).		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.932A>G	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	9.756	1.168876	0.21621	.	.	ENSG00000127362	ENST00000247879	T	0.00848	5.62	4.82	0.849	0.18972	.	1.041630	0.07557	N	0.916320	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	P	0.46049	0.502	T	0.46679	-0.9174	10	0.54805	T	0.06	.	0.9617	0.01397	0.484:0.1781:0.1023:0.2356	.	311	Q9NYW6	TA2R3_HUMAN	R	311	ENSP00000247879:K311R	ENSP00000247879:K311R	K	+	2	0	TAS2R3	141111359	0.001000	0.12720	0.078000	0.20375	0.061000	0.15899	0.416000	0.21198	0.319000	0.23209	0.528000	0.53228	AAG		PASS	0.507	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			73	46	73	46	---	---	---	---
OR2A1	346528	broad.mit.edu	37	7	144015481	144015481	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:144015481C>A	ENST00000408951.1	+	1	264	c.264C>A	c.(262-264)gcC>gcA	p.A88A	OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A88A(1)		large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					TGCATCCAGCCAAGCCCATCT	0.562																																						uc011kud.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(244-246)GCC>GCA		olfactory receptor, family 2, subfamily A,							136.0	156.0	149.0					7																	144015481		2202	4297	6499	SO:0001819	synonymous_variant	346528				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:144015481C>A		CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.264C>A	7.37:g.144015481C>A						OR2A9P_uc003wec.1_Intron	p.A82A	NM_001001802	NP_001001802	Q8NGT9	OR2A1_HUMAN			1	246	+	Melanoma(164;0.14)		88			Extracellular (Potential).		Q6IF44|Q96R46	Silent	SNP	ENST00000408951.1	37	c.246C>A	CCDS43673.1																																																																																				PASS	0.562	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1			24	166	24	166	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146818253	146818253	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:146818253G>A	ENST00000361727.3	+	6	1453	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	313	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.E313K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTTGGACTATGAGGTACATGT	0.423										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(937-939)GAG>AAG		cell recognition molecule Caspr2 precursor							135.0	109.0	118.0					7																	146818253		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146818253G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.937G>A	7.37:g.146818253G>A	ENSP00000354778:p.Glu313Lys	HNSCC(39;0.1)					p.E313K	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		6	1453	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	313			Laminin G-like 1.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.937G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203298	0.79127	.	.	ENSG00000174469	ENST00000361727	T	0.77750	-1.12	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000007	D	0.85902	0.5805	M	0.65498	2.005	0.80722	D	1	D	0.55800	0.973	P	0.61940	0.896	T	0.83180	-0.0089	10	0.32370	T	0.25	.	18.6867	0.91567	0.0:0.0:1.0:0.0	.	313	Q9UHC6	CNTP2_HUMAN	K	313	ENSP00000354778:E313K	ENSP00000354778:E313K	E	+	1	0	CNTNAP2	146449186	1.000000	0.71417	0.996000	0.52242	0.462000	0.32619	7.727000	0.84838	2.756000	0.94617	0.563000	0.77884	GAG		PASS	0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			16	16	16	16	---	---	---	---
ZNF786	136051	broad.mit.edu	37	7	148771626	148771626	+	Silent	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:148771626A>G	ENST00000491431.1	-	3	214	c.150T>C	c.(148-150)gaT>gaC	p.D50D	ZNF786_ENST00000316286.9_5'UTR|ZNF786_ENST00000451334.3_Silent_p.D13D	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D49D(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGGAAGTCCATCATCTGCAC	0.418																																						uc003wfh.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(1)	4						c.(148-150)GAT>GAC		zinc finger protein 786							86.0	79.0	81.0					7																	148771626		1882	4099	5981	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148771626A>G	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.150T>C	7.37:g.148771626A>G						ZNF786_uc011kuk.1_Silent_p.D13D|ZNF786_uc003wfi.2_5'UTR	p.D50D	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	287	-	Melanoma(164;0.15)		50			KRAB.		A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.150T>C	CCDS47738.1																																																																																				PASS	0.418	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		29	25	29	25	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149522134	149522134	+	RNA	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:149522134G>C	ENST00000378016.2	+	0	13921							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.R26T(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACGCTGGAGAGAGGCAGAGGC	0.647																																						uc010lpk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(13921-13923)GAG>CAG		SCO-spondin precursor							15.0	20.0	18.0					7																	149522134		1908	4112	6020			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149522134G>C	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149522134G>C						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_Intron	p.E4641Q	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		97	13921	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4641			TSP type-1 23.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.13921G>C																																																																																					PASS	0.647	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	22	5	22	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151871312	151871312	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:151871312G>A	ENST00000262189.6	-	39	9496	c.9278C>T	c.(9277-9279)aCa>aTa	p.T3093I	KMT2C_ENST00000355193.2_Missense_Mutation_p.T3093I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3093	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T3093I(2)									TATAGGATCTGTAATTGCATC	0.328																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(9277-9279)ACA>ATA		myeloid/lymphoid or mixed-lineage leukemia 3							86.0	87.0	87.0					7																	151871312		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151871312G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9278C>T	7.37:g.151871312G>A	ENSP00000262189:p.Thr3093Ile					MLL3_uc003wkz.2_Missense_Mutation_p.T2154I|MLL3_uc003wky.2_Missense_Mutation_p.T602I	p.T3093I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	39	9497	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	3093			Gln-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.9278C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767037	0.69878	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83419	-1.72;-1.72	5.63	5.63	0.86233	.	0.000000	0.47852	D	0.000216	D	0.87557	0.6207	L	0.41356	1.27	0.80722	D	1	D;P;D	0.76494	0.999;0.763;0.992	D;P;P	0.77557	0.99;0.784;0.9	D	0.83921	0.0301	10	0.22706	T	0.39	.	19.6696	0.95907	0.0:0.0:1.0:0.0	.	3093;2154;3093	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	I	3093	ENSP00000262189:T3093I;ENSP00000347325:T3093I	ENSP00000262189:T3093I	T	-	2	0	MLL3	151502245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.653000	0.90120	0.650000	0.86243	ACA		PASS	0.328	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			24	59	24	59	---	---	---	---
C8orf74	203076	broad.mit.edu	37	8	10532251	10532251	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:10532251C>A	ENST00000304519.5	+	2	173	c.144C>A	c.(142-144)ctC>ctA	p.L48L	C8orf74_ENST00000524025.1_3'UTR|RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	48								p.L48L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TGGACACCCTCTACGAGAGCA	0.572																																						uc003wtd.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(142-144)CTC>CTA		hypothetical protein LOC203076							56.0	64.0	61.0					8																	10532251		2027	4194	6221	SO:0001819	synonymous_variant	203076							g.chr8:10532251C>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.144C>A	8.37:g.10532251C>A						C8orf74_uc003wte.1_RNA	p.L48L	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	173	+			48					A2RUD6	Silent	SNP	ENST00000304519.5	37	c.144C>A	CCDS47800.1	.	.	.	.	.	.	.	.	.	.	C	7.093	0.572512	0.13623	.	.	ENSG00000171060	ENST00000521818	T	0.52754	0.65	5.06	2.13	0.27403	.	0.251997	0.28560	N	0.014901	T	0.48003	0.1476	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30060	-0.9991	7	0.40728	T	0.16	.	7.3042	0.26438	0.0:0.5995:0.3087:0.0918	.	.	.	.	I	47	ENSP00000429505:L47I	ENSP00000429505:L47I	L	+	1	2	C8orf74	10569661	0.598000	0.26882	0.874000	0.34290	0.642000	0.38348	0.659000	0.24994	0.124000	0.18369	0.430000	0.28490	CTA		PASS	0.572	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		3	13	3	13	---	---	---	---
ADAMDEC1	27299	broad.mit.edu	37	8	24259568	24259568	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:24259568T>C	ENST00000256412.4	+	12	1503	c.1283T>C	c.(1282-1284)cTa>cCa	p.L428P	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.L349P|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.L349P	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	428	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L428P(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AACCACCTTCTAGAAGTGGGA	0.373																																					Ovarian(147;687 1849 3699 25981 31337)	uc003xdz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1282-1284)CTA>CCA		ADAM-like, decysin 1 isoform 1							98.0	99.0	98.0					8																	24259568		2203	4300	6503	SO:0001583	missense	27299				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:24259568T>C	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1283T>C	8.37:g.24259568T>C	ENSP00000256412:p.Leu428Pro					ADAMDEC1_uc010lub.2_Missense_Mutation_p.L349P|ADAMDEC1_uc011lab.1_Missense_Mutation_p.L349P	p.L428P	NM_014479	NP_055294	O15204	ADEC1_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)	12	1503	+		Prostate(55;0.0181)	428			Disintegrin.		B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	37	c.1283T>C	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.040119	0.55003	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.03212	4.01;4.03;4.03	6.16	4.91	0.64330	Blood coagulation inhibitor, Disintegrin (1);Metallopeptidase, catalytic domain (1);	0.129033	0.35013	N	0.003514	T	0.17577	0.0422	H	0.94808	3.585	0.51767	D	0.999939	P	0.47409	0.895	P	0.52309	0.695	T	0.00619	-1.1641	10	0.87932	D	0	-7.7767	10.144	0.42751	0.1589:0.0:0.0:0.841	.	428	O15204	ADEC1_HUMAN	P	428;349;349	ENSP00000256412:L428P;ENSP00000442592:L349P;ENSP00000428993:L349P	ENSP00000256412:L428P	L	+	2	0	ADAMDEC1	24315513	0.999000	0.42202	0.995000	0.50966	0.701000	0.40568	2.043000	0.41231	2.367000	0.80283	0.528000	0.53228	CTA		PASS	0.373	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479		55	8	55	8	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30699552	30699552	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:30699552C>T	ENST00000256246.2	-	1	7056	c.6982G>A	c.(6982-6984)Gat>Aat	p.D2328N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2328					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.D2328N(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACAGTAGTATCTTGCTGTTGT	0.343																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(6982-6984)GAT>AAT		testis expressed 15							112.0	106.0	108.0					8																	30699552		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30699552C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6982G>A	8.37:g.30699552C>T	ENSP00000256246:p.Asp2328Asn						p.D2328N	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	6982	-			2328						Missense_Mutation	SNP	ENST00000256246.2	37	c.6982G>A	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	0.518	-0.863652	0.02590	.	.	ENSG00000133863	ENST00000256246	T	0.09163	3.01	5.26	-0.683	0.11335	.	1.289220	0.05264	N	0.516180	T	0.02848	0.0085	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37103	-0.9720	10	0.87932	D	0	.	1.449	0.02371	0.127:0.1615:0.2622:0.4492	.	2328	Q9BXT5	TEX15_HUMAN	N	2328	ENSP00000256246:D2328N	ENSP00000256246:D2328N	D	-	1	0	TEX15	30819094	0.001000	0.12720	0.000000	0.03702	0.010000	0.07245	0.280000	0.18790	-0.340000	0.08388	-0.339000	0.08088	GAT		PASS	0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			53	17	53	17	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30704329	30704329	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:30704329G>C	ENST00000256246.2	-	1	2279	c.2205C>G	c.(2203-2205)agC>agG	p.S735R	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	735					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S735R(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCTGTGGTGCTTTCCAAAA	0.388																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2203-2205)AGC>AGG		testis expressed 15							120.0	113.0	115.0					8																	30704329		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30704329G>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2205C>G	8.37:g.30704329G>C	ENSP00000256246:p.Ser735Arg						p.S735R	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2205	-			735						Missense_Mutation	SNP	ENST00000256246.2	37	c.2205C>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022605	0.54683	.	.	ENSG00000133863	ENST00000256246	T	0.14893	2.47	5.78	0.949	0.19566	.	1.015020	0.07861	N	0.966359	T	0.27594	0.0678	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.26052	-1.0114	10	0.87932	D	0	.	7.4122	0.27023	0.4505:0.0:0.5495:0.0	.	735	Q9BXT5	TEX15_HUMAN	R	735	ENSP00000256246:S735R	ENSP00000256246:S735R	S	-	3	2	TEX15	30823871	0.000000	0.05858	0.011000	0.14972	0.045000	0.14185	0.152000	0.16302	0.091000	0.17302	0.655000	0.94253	AGC		PASS	0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			44	12	44	12	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61766950	61766950	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:61766950T>A	ENST00000423902.2	+	32	7283	c.6804T>A	c.(6802-6804)ttT>ttA	p.F2268L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2268					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F2268L(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAGAATTTTGATGAAGAAA	0.438																																						uc003xue.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9						c.(6802-6804)TTT>TTA		chromodomain helicase DNA binding protein 7							109.0	100.0	103.0					8																	61766950		1850	4097	5947	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61766950T>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6804T>A	8.37:g.61766950T>A	ENSP00000392028:p.Phe2268Leu						p.F2268L	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		32	7281	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2268					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6804T>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511332	0.85389	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.81415	-1.49	5.56	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	L	0.39633	1.23	0.51482	D	0.999921	P	0.52842	0.956	D	0.65010	0.931	T	0.74858	-0.3521	10	0.15952	T	0.53	-11.8877	8.8279	0.35065	0.0:0.1539:0.0:0.8461	.	2268	Q9P2D1	CHD7_HUMAN	L	2268	ENSP00000392028:F2268L	ENSP00000307304:F2268L	F	+	3	2	CHD7	61929504	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.944000	0.40263	0.952000	0.37798	0.533000	0.62120	TTT		PASS	0.438	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		18	42	18	42	---	---	---	---
MRPS28	28957	broad.mit.edu	37	8	80831357	80831357	+	Missense_Mutation	SNP	C	C	T	rs200502731	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:80831357C>T	ENST00000276585.4	-	3	444	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	MRPS28_ENST00000521605.1_Silent_p.P80P|MRPS28_ENST00000521434.1_Missense_Mutation_p.R79Q	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	141						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.R141Q(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			TAGCCGCAACCGGACCCTGGT	0.373													C|||	3	0.000599042	0.0	0.0	5008	,	,		13497	0.002		0.0	False		,,,				2504	0.001					uc003ybp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CGG>CAG		mitochondrial ribosomal protein S28							94.0	97.0	96.0					8																	80831357		2203	4300	6503	SO:0001583	missense	28957					mitochondrial small ribosomal subunit		g.chr8:80831357C>T	AB061209	CCDS6226.1	8q21.1-q21.2	2012-09-13			ENSG00000147586	ENSG00000147586		"""Mitochondrial ribosomal proteins / small subunits"""	14513	protein-coding gene	gene with protein product		611990				11279123, 11042152	Standard	NM_014018		Approved	MRP-S28, HSPC007, MRPS35	uc003ybp.3	Q9Y2Q9	OTTHUMG00000164642	ENST00000276585.4:c.422G>A	8.37:g.80831357C>T	ENSP00000276585:p.Arg141Gln					MRPS28_uc003ybo.2_Missense_Mutation_p.R50Q|TPD52_uc010lzr.2_RNA	p.R141Q	NM_014018	NP_054737	Q9Y2Q9	RT28_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)		3	445	-	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		141					B2RDZ7|Q96Q21	Missense_Mutation	SNP	ENST00000276585.4	37	c.422G>A	CCDS6226.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.3	4.521342	0.85600	.	.	ENSG00000147586	ENST00000276585;ENST00000521434;ENST00000519120;ENST00000520946	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.78	5.78	0.91487	RNA-binding domain, S1 (1);	0.139502	0.46442	D	0.000287	T	0.72228	0.3434	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74751	-0.3559	10	0.72032	D	0.01	.	18.7813	0.91933	0.0:1.0:0.0:0.0	.	141	Q9Y2Q9	RT28_HUMAN	Q	141;79;59;79	ENSP00000276585:R141Q;ENSP00000428880:R79Q;ENSP00000428744:R59Q;ENSP00000430401:R79Q	ENSP00000276585:R141Q	R	-	2	0	MRPS28	80993912	0.992000	0.36948	0.959000	0.39883	0.668000	0.39293	3.741000	0.55090	2.719000	0.93026	0.650000	0.86243	CGG		PASS	0.373	MRPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379526.1	NM_014018		98	56	98	56	---	---	---	---
RMDN1	51115	broad.mit.edu	37	8	87498812	87498812	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:87498812G>T	ENST00000406452.3	-	4	555	c.396C>A	c.(394-396)agC>agA	p.S132R	RMDN1_ENST00000523911.1_Missense_Mutation_p.S88R|RMDN1_ENST00000519966.1_Missense_Mutation_p.S132R|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000430676.2_Missense_Mutation_p.S132R	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	132						microtubule (GO:0005874)|mitochondrion (GO:0005739)		p.S132R(1)									CTGAGGTTCTGCTAAGCTGAG	0.388																																						uc003ydu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(394-396)AGC>AGA		regulator of microtubule dynamics 1							127.0	113.0	117.0					8																	87498812		2203	4300	6503	SO:0001583	missense	51115					microtubule|spindle pole	binding	g.chr8:87498812G>T	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.396C>A	8.37:g.87498812G>T	ENSP00000385927:p.Ser132Arg					FAM82B_uc011lfz.1_Missense_Mutation_p.S132R|FAM82B_uc011lga.1_Missense_Mutation_p.S132R	p.S132R	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN			4	556	-			132					A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Missense_Mutation	SNP	ENST00000406452.3	37	c.396C>A	CCDS34918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.48|14.48	2.548387|2.548387	0.45383|0.45383	.|.	.|.	ENSG00000176623|ENSG00000176623	ENST00000519789|ENST00000406452;ENST00000523911;ENST00000519966;ENST00000430676;ENST00000521045	.|T;T;T;T;T	.|0.51325	.|0.71;0.71;0.71;0.71;0.71	5.88|5.88	-1.87|-1.87	0.07737|0.07737	.|Tetratricopeptide-like helical (1);	.|0.477872	.|0.25338	.|N	.|0.031394	T|T	0.51991|0.51991	0.1707|0.1707	M|M	0.76574|0.76574	2.34|2.34	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.52170	.|0.951;0.547;0.404	.|P;B;B	.|0.50896	.|0.653;0.353;0.353	T|T	0.56171|0.56171	-0.8023|-0.8023	5|10	.|0.18710	.|T	.|0.47	-0.1301|-0.1301	14.5198|14.5198	0.67842|0.67842	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.	.|132;132;132	.|B4DZW6;E7EVI2;Q96DB5	.|.;.;RMD1_HUMAN	K|R	78|132;88;132;132;88	.|ENSP00000385927:S132R;ENSP00000429899:S88R;ENSP00000428661:S132R;ENSP00000409661:S132R;ENSP00000428743:S88R	.|ENSP00000385927:S132R	Q|S	-|-	1|3	0|2	FAM82B|FAM82B	87567928|87567928	0.000000|0.000000	0.05858|0.05858	0.049000|0.049000	0.19019|0.19019	0.921000|0.921000	0.55340|0.55340	-0.398000|-0.398000	0.07259|0.07259	-0.389000|-0.389000	0.07786|0.07786	0.650000|0.650000	0.86243|0.86243	CAG|AGC		PASS	0.388	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033		55	47	55	47	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885715	88885715	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:88885715G>T	ENST00000319675.3	-	1	581	c.485C>A	c.(484-486)tCg>tAg	p.S162*		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	162								p.S162*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TATGAACAGCGACGCTGGGAG	0.572																																						uc003ydz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(484-486)TCG>TAG		WD repeat domain 21C							101.0	94.0	97.0					8																	88885715		2203	4300	6503	SO:0001587	stop_gained	138009							g.chr8:88885715G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.485C>A	8.37:g.88885715G>T	ENSP00000316496:p.Ser162*						p.S162*	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	582	-			162						Nonsense_Mutation	SNP	ENST00000319675.3	37	c.485C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129713	0.56721	.	.	ENSG00000176566	ENST00000319675	.	.	.	1.39	0.366	0.16136	.	0.053695	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.8734	0.09047	0.2698:0.0:0.7302:0.0	.	.	.	.	X	162	.	ENSP00000316496:S162X	S	-	2	0	DCAF4L2	88954831	1.000000	0.71417	0.002000	0.10522	0.028000	0.11728	3.268000	0.51585	-0.066000	0.12998	0.467000	0.42956	TCG		PASS	0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		77	48	77	48	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113266518	113266518	+	Silent	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:113266518A>T	ENST00000297405.5	-	63	10318	c.10074T>A	c.(10072-10074)ccT>ccA	p.P3358P	CSMD3_ENST00000343508.3_Silent_p.P3318P|CSMD3_ENST00000352409.3_Silent_p.P3288P|CSMD3_ENST00000455883.2_Silent_p.P3189P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3358	Sushi 27. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3358P(1)|p.P3318P(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCCATGCCGAGGCACACCTG	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10072-10074)CCT>CCA		CUB and Sushi multiple domains 3 isoform 1							200.0	198.0	199.0					8																	113266518		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113266518A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10074T>A	8.37:g.113266518A>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2560P|CSMD3_uc003ynt.2_Silent_p.P3318P|CSMD3_uc011lhx.1_Silent_p.P3189P	p.P3358P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			63	10233	-			3358			Extracellular (Potential).|Sushi 27.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10074T>A	CCDS6315.1																																																																																				PASS	0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		169	306	169	306	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131812681	131812681	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:131812681G>C	ENST00000286355.5	-	15	5143	c.3051C>G	c.(3049-3051)gaC>gaG	p.D1017E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D886E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1017					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.D1017E(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTCATCGAAGTCAGCAATGA	0.403										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3049-3051)GAC>GAG		adenylate cyclase 8							181.0	164.0	170.0					8																	131812681		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131812681G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3051C>G	8.37:g.131812681G>C	ENSP00000286355:p.Asp1017Glu	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.D886E	p.D1017E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		15	3307	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1017			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.3051C>G	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163151	0.78226	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.81163	-1.46;-1.46	5.31	3.51	0.40186	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.048033	0.85682	D	0.000000	D	0.83229	0.5209	L	0.41710	1.295	0.29517	N	0.853754	P;D	0.67145	0.902;0.996	P;D	0.78314	0.899;0.991	T	0.77616	-0.2521	10	0.39692	T	0.17	.	10.6299	0.45530	0.1554:0.0:0.8446:0.0	.	886;1017	E7EVL1;P40145	.;ADCY8_HUMAN	E	1017;886	ENSP00000286355:D1017E;ENSP00000367161:D886E	ENSP00000286355:D1017E	D	-	3	2	ADCY8	131881863	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	4.945000	0.63568	0.613000	0.30089	0.557000	0.71058	GAC		PASS	0.403	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			112	85	112	85	---	---	---	---
TG	7038	broad.mit.edu	37	8	133899251	133899251	+	Missense_Mutation	SNP	A	A	G	rs145429573		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:133899251A>G	ENST00000220616.4	+	9	1674	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	TG_ENST00000377869.1_Missense_Mutation_p.N545S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	545					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.N545S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGTACTATGAATAAGCCAACT	0.453																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1633-1635)AAT>AGT		thyroglobulin precursor							68.0	67.0	67.0					8																	133899251		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899251A>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1634A>G	8.37:g.133899251A>G	ENSP00000220616:p.Asn545Ser						p.N545S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1675	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	545					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.1634A>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	A	5.448	0.267791	0.10349	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.65549	-0.16;-0.16	5.29	2.84	0.33178	.	0.263977	0.33180	N	0.005187	T	0.50650	0.1628	L	0.55103	1.725	0.26073	N	0.981198	B	0.29988	0.264	B	0.20577	0.03	T	0.47182	-0.9137	10	0.46703	T	0.11	.	8.0765	0.30720	0.7664:0.0:0.2336:0.0	.	545	P01266	THYG_HUMAN	S	545	ENSP00000367100:N545S;ENSP00000220616:N545S	ENSP00000220616:N545S	N	+	2	0	TG	133968433	0.616000	0.27035	0.116000	0.21606	0.094000	0.18550	0.733000	0.26087	1.028000	0.39785	0.455000	0.32223	AAT		PASS	0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		46	85	46	85	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144993616	144993616	+	Missense_Mutation	SNP	C	C	A	rs200060348		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:144993616C>A	ENST00000322810.4	-	32	10953	c.10784G>T	c.(10783-10785)cGg>cTg	p.R3595L	PLEC_ENST00000398774.2_Missense_Mutation_p.R3426L|PLEC_ENST00000345136.3_Missense_Mutation_p.R3458L|PLEC_ENST00000354589.3_Missense_Mutation_p.R3458L|PLEC_ENST00000354958.2_Missense_Mutation_p.R3436L|PLEC_ENST00000436759.2_Missense_Mutation_p.R3485L|PLEC_ENST00000356346.3_Missense_Mutation_p.R3444L|PLEC_ENST00000527096.1_Missense_Mutation_p.R3481L|PLEC_ENST00000357649.2_Missense_Mutation_p.R3462L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3595	Globular 2.				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.R3595L(1)|p.R3485L(1)|p.R3458L(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						GCCGTGCTGCCGGAGAACCAG	0.682																																						uc003zaf.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10783-10785)CGG>CTG		plectin isoform 1							42.0	48.0	46.0					8																	144993616		2023	4189	6212	SO:0001583	missense	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.chr8:144993616C>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.10784G>T	8.37:g.144993616C>A	ENSP00000323856:p.Arg3595Leu					PLEC_uc003zab.1_Missense_Mutation_p.R3458L|PLEC_uc003zac.1_Missense_Mutation_p.R3462L|PLEC_uc003zad.2_Missense_Mutation_p.R3458L|PLEC_uc003zae.1_Missense_Mutation_p.R3426L|PLEC_uc003zag.1_Missense_Mutation_p.R3436L|PLEC_uc003zah.2_Missense_Mutation_p.R3444L|PLEC_uc003zaj.2_Missense_Mutation_p.R3485L	p.R3595L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10954	-			3595			Plectin 14.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10784G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.138	0.023904	0.08006	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35	5.03	3.21	0.36854	.	0.152382	0.39544	U	0.001335	T	0.58337	0.2115	L	0.52573	1.65	0.09310	N	0.999999	P;P;P;P;P;P;P;P	0.39551	0.662;0.662;0.662;0.678;0.662;0.662;0.662;0.662	B;B;B;B;B;B;B;B	0.40702	0.338;0.338;0.338;0.182;0.338;0.338;0.338;0.338	T	0.52953	-0.8506	10	0.52906	T	0.07	.	6.3866	0.21563	0.0:0.5976:0.0:0.4024	.	3485;3444;3436;3595;3426;3458;3462;3458	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	3458;3462;3458;3426;3595;3436;3444;3485;3481	ENSP00000344848:R3458L;ENSP00000350277:R3462L;ENSP00000346602:R3458L;ENSP00000381756:R3426L;ENSP00000323856:R3595L;ENSP00000347044:R3436L;ENSP00000348702:R3444L;ENSP00000388180:R3485L;ENSP00000434583:R3481L	ENSP00000323856:R3595L	R	-	2	0	PLEC	145065604	0.003000	0.15002	0.007000	0.13788	0.317000	0.28152	1.128000	0.31369	0.688000	0.31529	0.448000	0.29417	CGG		PASS	0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		41	85	41	85	---	---	---	---
GRINA	2907	broad.mit.edu	37	8	145066865	145066865	+	Silent	SNP	C	C	T	rs567920896		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:145066865C>T	ENST00000313269.5	+	7	1250	c.972C>T	c.(970-972)ctC>ctT	p.L324L	GRINA_ENST00000395068.4_Silent_p.L324L	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	324						integral component of membrane (GO:0016021)		p.L324L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCAGTTCCTCGCAGTGGACA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20548	0.001		0.0	False		,,,				2504	0.0					uc003zan.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(970-972)CTC>CTT		glutamate receptor, ionotropic, N-methyl							121.0	86.0	98.0					8																	145066865		2203	4299	6502	SO:0001819	synonymous_variant	2907					integral to membrane		g.chr8:145066865C>T	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.972C>T	8.37:g.145066865C>T						GRINA_uc003zao.1_Silent_p.L324L|GRINA_uc003zap.1_Silent_p.L324L	p.L324L	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1138	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		324			Helical; (Potential).		B3KXM7|O43836|Q8IVW7	Silent	SNP	ENST00000313269.5	37	c.972C>T	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.314|9.314	1.056423|1.056423	0.19907|0.19907	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000533044;ENST00000527194|ENST00000534791	.|.	.|.	.|.	4.72|4.72	2.92|2.92	0.33932|0.33932	.|.	.|.	.|.	.|.	.|.	T|T	0.54838|0.54838	0.1883|0.1883	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46911|0.46911	-0.9157|-0.9157	4|4	.|.	.|.	.|.	-17.2999|-17.2999	6.5163|6.5163	0.22250|0.22250	0.0986:0.1837:0.7177:0.0|0.0986:0.1837:0.7177:0.0	.|.	.|.	.|.	.|.	C|L	147;137|303	.|.	.|.	R|S	+|+	1|2	0|0	GRINA|GRINA	145138853|145138853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	2.228000|2.228000	0.42981|0.42981	0.599000|0.599000	0.29845|0.29845	-0.351000|-0.351000	0.07748|0.07748	CGC|TCG		PASS	0.592	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		9	65	9	65	---	---	---	---
ZDHHC21	340481	broad.mit.edu	37	9	14619681	14619681	+	Splice_Site	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:14619681C>G	ENST00000380916.4	-	9	1088		c.e9-1			NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21						hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		ATGTTGTATCCtattaaaaat	0.234																																						uc003zli.2																			1	Unknown(1)		lung(1)		0						c.e9-1		zinc finger, DHHC-type containing 21							26.0	28.0	27.0					9																	14619681		2176	4275	6451	SO:0001630	splice_region_variant	340481				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding	g.chr9:14619681C>G	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.622-1G>C	9.37:g.14619681C>G						ZDHHC21_uc003zlg.1_Intron	p.D208_splice	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN		GBM - Glioblastoma multiforme(50;4.31e-06)	9	1092	-								A8KA95|D3DRI7|Q5VWG1	Splice_Site	SNP	ENST00000380916.4	37	c.622_splice	CCDS6475.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973580	0.53720	.	.	ENSG00000175893	ENST00000380916	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6525	0.99598	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZDHHC21	14609681	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.688000	0.54699	2.890000	0.99128	0.585000	0.79938	.		PASS	0.234	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2	NM_178566	Intron	4	77	4	77	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	uc003zoe.2				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)		lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	lung(2)|ovary(1)	3						c.(502-504)AGC>AGT		myeloid/lymphoid or mixed-lineage leukemia							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V	p.S168S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	763	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				PASS	0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	92	5	92	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73442928	73442928	+	Missense_Mutation	SNP	G	G	A	rs369223458		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:73442928G>A	ENST00000377111.2	-	6	1051	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	TRPM3_ENST00000360823.2_Missense_Mutation_p.R117W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R117W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R117W|TRPM3_ENST00000396283.1_Missense_Mutation_p.R117W|TRPM3_ENST00000377101.1_Missense_Mutation_p.R117W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R117W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R117W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R272W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R117W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R272W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R117W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R117W|TRPM3_ENST00000377110.3_Missense_Mutation_p.R270W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R117W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	270					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.R270W(1)|p.R117W(1)|p.R272W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGGTATGGCCGGACAACCTGC	0.453																																						uc004aid.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(808-810)CGG>TGG		transient receptor potential cation channel,		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	142.0	136.0	138.0		349,808,349,349,349,349,349,349,349	5.8	1.0	9		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	TRPM3	NM_001007470.1,NM_001007471.2,NM_020952.4,NM_024971.5,NM_206944.3,NM_206945.3,NM_206946.3,NM_206947.3,NM_206948.2	101,101,101,101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	117/256,270/1708,117/1555,117/1567,117/1545,117/1557,117/1580,117/1570,117/231	73442928	1,13005	2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73442928G>A	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.808C>T	9.37:g.73442928G>A	ENSP00000366315:p.Arg270Trp					TRPM3_uc004ahu.2_Missense_Mutation_p.R100W|TRPM3_uc004ahv.2_Missense_Mutation_p.R100W|TRPM3_uc004ahw.2_Missense_Mutation_p.R117W|TRPM3_uc004ahx.2_Missense_Mutation_p.R117W|TRPM3_uc004ahy.2_Missense_Mutation_p.R117W|TRPM3_uc004ahz.2_Missense_Mutation_p.R117W|TRPM3_uc004aia.2_Missense_Mutation_p.R117W|TRPM3_uc004aib.2_Missense_Mutation_p.R117W|TRPM3_uc004aic.2_Missense_Mutation_p.R270W|TRPM3_uc010mor.2_Missense_Mutation_p.R270W|TRPM3_uc004aie.2_Missense_Mutation_p.R117W|TRPM3_uc004aif.2_Missense_Mutation_p.R117W|TRPM3_uc004aig.2_Missense_Mutation_p.R117W|TRPM3_uc004aii.2_Missense_Mutation_p.R272W	p.R270W	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			6	1052	-			270			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.808C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.86|16.86	3.240237|3.240237	0.58995|0.58995	0.0|0.0	1.16E-4|1.16E-4	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.02944	.|4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1;4.1	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13586|0.13586	0.0329|0.0329	L|L	0.54323|0.54323	1.7|1.7	0.53005|0.53005	D|D	0.999964|0.999964	.|D;D;D;D;B;D;D;D;D;B;D	.|0.89917	.|0.999;1.0;0.998;0.999;0.227;1.0;0.999;0.999;1.0;0.275;0.994	.|P;D;P;P;B;D;P;P;D;B;P	.|0.74674	.|0.786;0.969;0.827;0.894;0.04;0.984;0.786;0.772;0.984;0.119;0.676	T|T	0.00045|0.00045	-1.2215|-1.2215	5|10	.|0.72032	.|D	.|0.01	-20.7328|-20.7328	20.1184|20.1184	0.97949|0.97949	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|270;272;117;270;270;270;272;117;117;270;117	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.	L|W	116|270;270;117;117;117;272;117;117;117;117;272;117;117;117;117	.|ENSP00000366315:R270W;ENSP00000366314:R270W;ENSP00000366310:R117W;ENSP00000354066:R117W;ENSP00000366309:R117W;ENSP00000350140:R272W;ENSP00000386127:R117W;ENSP00000379581:R117W;ENSP00000379587:R117W;ENSP00000350791:R117W;ENSP00000389542:R272W;ENSP00000366305:R117W;ENSP00000379579:R117W;ENSP00000355395:R117W	.|ENSP00000350140:R272W	P|R	-|-	2|1	0|2	TRPM3|TRPM3	72632748|72632748	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.719000|4.719000	0.61937|0.61937	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	CCG|CGG		PASS	0.453	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		4	117	4	117	---	---	---	---
GOLM1	51280	broad.mit.edu	37	9	88655734	88655734	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:88655734G>T	ENST00000388712.3	-	6	685	c.517C>A	c.(517-519)Cga>Aga	p.R173R	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.R173R	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	173					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.R173R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TCTTCTATTCGCTCCTCACAC	0.483																																						uc004aol.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(517-519)CGA>AGA		golgi membrane protein 1							271.0	224.0	240.0					9																	88655734		2203	4300	6503	SO:0001819	synonymous_variant	51280					Golgi apparatus|integral to plasma membrane		g.chr9:88655734G>T	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.517C>A	9.37:g.88655734G>T						GOLM1_uc010mqd.1_RNA|GOLM1_uc004aom.2_Silent_p.R173R	p.R173R	NM_016548	NP_057632	Q8NBJ4	GOLM1_HUMAN			6	715	-			173			Potential.|Lumenal (Potential).		Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	c.517C>A	CCDS35054.1																																																																																				PASS	0.483	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2	NM_177937		69	6	69	6	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104324230	104324230	+	Silent	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:104324230A>G	ENST00000389120.3	+	19	2778	c.2688A>G	c.(2686-2688)acA>acG	p.T896T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	896					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T896T(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGGAGACCACAAAGAAACCAG	0.388																																						uc004bbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2686-2688)ACA>ACG		ring finger protein 20							205.0	215.0	212.0					9																	104324230		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104324230A>G	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2688A>G	9.37:g.104324230A>G							p.T896T	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	19	2778	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	896			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.2688A>G	CCDS35084.1																																																																																				PASS	0.388	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		122	27	122	27	---	---	---	---
OR13F1	138805	broad.mit.edu	37	9	107266756	107266756	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:107266756C>A	ENST00000334726.2	+	1	302	c.213C>A	c.(211-213)atC>atA	p.I71I		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I71I(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTGGACATCTGGTACTCCT	0.493																																						uc011lvm.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(211-213)ATC>ATA		olfactory receptor, family 13, subfamily F,							186.0	159.0	168.0					9																	107266756		2203	4300	6503	SO:0001819	synonymous_variant	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266756C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.213C>A	9.37:g.107266756C>A							p.I71I	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	213	+			71			Helical; Name=2; (Potential).		Q6IF50	Silent	SNP	ENST00000334726.2	37	c.213C>A	CCDS35087.1																																																																																				PASS	0.493	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			83	26	83	26	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119858403	119858403	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:119858403C>A	ENST00000313400.4	-	5	1296	c.1196G>T	c.(1195-1197)gGg>gTg	p.G399V	AL354981.1_ENST00000583553.1_RNA|ASTN2_ENST00000361209.2_Missense_Mutation_p.G348V|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G399V			O75129	ASTN2_HUMAN	astrotactin 2	399					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.G348V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCCGACGTCCCCTTGGCTCT	0.542																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1195-1197)GGG>GTG		astrotactin 2 isoform c							120.0	93.0	102.0					9																	119858403		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119858403C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1196G>T	9.37:g.119858403C>A	ENSP00000314038:p.Gly399Val					ASTN2_uc004bjr.1_Missense_Mutation_p.G399V|ASTN2_uc004bjt.1_Missense_Mutation_p.G348V	p.G399V	NM_198187	NP_937830	O75129	ASTN2_HUMAN			5	1297	-			399			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1196G>T		.	.	.	.	.	.	.	.	.	.	C	15.94	2.980887	0.53827	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.14766	2.65;2.64;2.48;2.68	4.98	4.98	0.66077	.	0.064498	0.64402	D	0.000010	T	0.23451	0.0567	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.944;0.994;1.0	T	0.02477	-1.1153	9	.	.	.	-28.3281	15.5262	0.75910	0.0:1.0:0.0:0.0	.	348;399;399	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	V	399;399;126;348	ENSP00000314038:G399V;ENSP00000363108:G399V;ENSP00000363098:G126V;ENSP00000354504:G348V	.	G	-	2	0	ASTN2	118898224	0.999000	0.42202	0.993000	0.49108	0.826000	0.46750	4.370000	0.59517	2.488000	0.83962	0.491000	0.48974	GGG		PASS	0.542	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		24	5	24	5	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121930121	121930121	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:121930121C>G	ENST00000265922.3	-	8	1988	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	509					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.E509D(1)									CGAGGCGGATCTCGTTGCTGA	0.557																																						uc004bkc.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1525-1527)GAG>GAC		deleted in bladder cancer 1 precursor							264.0	186.0	212.0					9																	121930121		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930121C>G	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1527G>C	9.37:g.121930121C>G	ENSP00000265922:p.Glu509Asp						p.E509D	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	1983	-			509					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1527G>C	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	7.200	0.593328	0.13875	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.11604	2.76	5.74	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.10208	0.0250	N	0.04686	-0.185	0.58432	D	0.999999	P	0.52842	0.956	P	0.62184	0.899	T	0.13818	-1.0495	10	0.02654	T	1	-22.8025	12.4834	0.55856	0.0:0.9067:0.0:0.0933	.	509	O60477	DBC1_HUMAN	D	509	ENSP00000265922:E509D	ENSP00000265922:E509D	E	-	3	2	DBC1	120969942	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.536000	0.36072	1.280000	0.44463	0.655000	0.94253	GAG		PASS	0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		30	9	30	9	---	---	---	---
CDK5RAP2	55755	broad.mit.edu	37	9	123156817	123156817	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:123156817G>C	ENST00000349780.4	-	36	5730	c.5551C>G	c.(5551-5553)Cgc>Ggc	p.R1851G	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1772G|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1819G|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1810G	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1851	Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R1851G(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTTTCCTGGCGCTTGCTCAGC	0.478																																						uc004bkf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(5551-5553)CGC>GGC		CDK5 regulatory subunit associated protein 2							183.0	162.0	170.0					9																	123156817		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123156817G>C	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5551C>G	9.37:g.123156817G>C	ENSP00000343818:p.Arg1851Gly					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R860G|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R1136G|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1772G|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R1116G|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R1116G|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R1116G|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1621G	p.R1851G	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			36	5732	-			1851			Interaction with PCNT and AKAP9.		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.5551C>G	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459368	0.26248	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647	T;T;T;T;T;T	0.24151	3.87;3.78;3.87;3.78;2.19;1.87	5.39	4.48	0.54585	.	0.419685	0.22745	N	0.056143	T	0.15219	0.0367	N	0.14661	0.345	0.25579	N	0.986817	B;B;B;B;B	0.27594	0.002;0.094;0.034;0.182;0.011	B;B;B;B;B	0.22880	0.002;0.042;0.033;0.019;0.003	T	0.14755	-1.0461	10	0.48119	T	0.1	.	11.0781	0.48043	0.0:0.0:0.6396:0.3604	.	861;1819;1772;1851;1245	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	G	1819;1810;1851;1772;1245;861	ENSP00000354065:R1819G;ENSP00000352258:R1810G;ENSP00000343818:R1851G;ENSP00000353317:R1772G;ENSP00000400395:R1245G;ENSP00000409941:R861G	ENSP00000343818:R1851G	R	-	1	0	CDK5RAP2	122196638	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.028000	0.41088	1.252000	0.44001	0.655000	0.94253	CGC		PASS	0.478	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		45	13	45	13	---	---	---	---
DPM2	8818	broad.mit.edu	37	9	130699797	130699797	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:130699797C>A	ENST00000314392.8	-	2	672	c.9G>T	c.(7-9)acG>acT	p.T3T	RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|DPM2_ENST00000373110.4_Silent_p.T3T|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000415141.2_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	3					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)	p.T3T(1)		lung(1)	1						GGTCTGTCCCCGTGGCCTGGA	0.592																																						uc004bsv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)ACG>ACT		dolichyl-phosphate mannosyltransferase 2							80.0	68.0	72.0					9																	130699797		2202	4300	6502	SO:0001819	synonymous_variant	8818				C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding	g.chr9:130699797C>A	AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.9G>T	9.37:g.130699797C>A							p.T3T	NM_003863	NP_003854	O94777	DPM2_HUMAN			2	673	-			3					Q5XKK9|Q6FGH3	Silent	SNP	ENST00000314392.8	37	c.9G>T	CCDS6886.1																																																																																				PASS	0.592	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054324.1	NM_003863		26	4	26	4	---	---	---	---
DPH7	92715	broad.mit.edu	37	9	140468735	140468735	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr9:140468735C>T	ENST00000277540.2	-	5	722	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	189					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)			p.A189T(1)									TGCCATGAGGCCACTTTCTGC	0.547																																						uc004cnk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(565-567)GCC>ACC		WD repeat domain 85							135.0	127.0	130.0					9																	140468735		2203	4300	6503	SO:0001583	missense	92715				peptidyl-diphthamide biosynthetic process from peptidyl-histidine			g.chr9:140468735C>T	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.565G>A	9.37:g.140468735C>T	ENSP00000277540:p.Ala189Thr					WDR85_uc004cnl.1_Missense_Mutation_p.A13T|WDR85_uc004cnm.1_5'UTR|WDR85_uc004cnn.1_Intron	p.A189T	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)	5	723	-	all_cancers(76;0.106)		189					Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.565G>A	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747317	0.30955	.	.	ENSG00000148399	ENST00000277540	T	0.01323	5.01	4.67	2.58	0.30949	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.666602	0.14941	N	0.289492	T	0.00875	0.0029	L	0.28274	0.84	0.09310	N	1	P	0.35174	0.488	B	0.24006	0.05	T	0.43956	-0.9359	10	0.11794	T	0.64	.	3.3796	0.07249	0.3616:0.403:0.0:0.2353	.	189	Q9BTV6	WDR85_HUMAN	T	189	ENSP00000277540:A189T	ENSP00000277540:A189T	A	-	1	0	WDR85	139588556	.	.	0.002000	0.10522	0.880000	0.50808	.	.	0.968000	0.38212	0.306000	0.20318	GCC		PASS	0.547	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		7	106	7	106	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26849102	26849103	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:26849102_26849103CC>AT	ENST00000376236.4	+	12	1679_1680	c.1224_1225CC>AT	c.(1222-1227)aaCCag>aaATag	p.408_409NQ>K*		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	408	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.N408_Q409>K*(1)|p.Q409*(1)|p.N408K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GAACCCTTAACCAGTGGGTCAT	0.495																																						uc001iss.2																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1222-1224)AAC>AAA|c.(1225-1227)CAG>TAG		amyloid beta (A4) precursor protein-binding,																																				SO:0001587	stop_gained	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26849102C>A|g.chr10:26849103C>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	Exception_encountered	10.37:g.26849102_26849103delinsAT	ENSP00000365411:p.N408_Q409delinsK*						p.N408K|p.Q409*	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			12	1545|1546	+			408|409			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000376236.4	37	c.1224C>A|c.1225C>T	CCDS31167.1																																																																																				PASS	0.495	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		15|13	79	13	79	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26849116	26849116	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:26849116G>C	ENST00000376236.4	+	12	1693	c.1238G>C	c.(1237-1239)gGa>gCa	p.G413A		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	413	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.G413A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGGGTCATGGGAATACGGATA	0.498																																						uc001iss.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(2)|central_nervous_system(1)	7						c.(1237-1239)GGA>GCA		amyloid beta (A4) precursor protein-binding,							133.0	117.0	122.0					10																	26849116		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26849116G>C	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1238G>C	10.37:g.26849116G>C	ENSP00000365411:p.Gly413Ala						p.G413A	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			12	1559	+			413			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1238G>C	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963826	0.53507	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.71222	-0.55	5.4	5.4	0.78164	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.099149	0.64402	D	0.000002	T	0.71307	0.3324	N	0.17838	0.53	0.80722	D	1	D	0.67145	0.996	D	0.68192	0.956	T	0.64071	-0.6493	10	0.08381	T	0.77	.	18.0917	0.89477	0.0:0.0:1.0:0.0	.	413	Q7Z5R6	AB1IP_HUMAN	A	413	ENSP00000365411:G413A	ENSP00000365411:G413A	G	+	2	0	APBB1IP	26889122	1.000000	0.71417	0.996000	0.52242	0.637000	0.38172	6.258000	0.72487	2.676000	0.91093	0.650000	0.86243	GGA		PASS	0.498	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		9	66	9	66	---	---	---	---
MKX	283078	broad.mit.edu	37	10	28024303	28024303	+	Splice_Site	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:28024303C>T	ENST00000375790.5	-	4	781	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	MKX_ENST00000419761.1_Splice_Site_p.V117M			Q8IYA7	MKX_HUMAN	mohawk homeobox	117					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.V117M(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CAATTTGACACCTAAAACAGT	0.358																																						uc001ity.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)GTG>ATG		mohawk homeobox							78.0	78.0	78.0					10																	28024303		2203	4300	6503	SO:0001630	splice_region_variant	283078				muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:28024303C>T	BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"""Homeoboxes / TALE class"""	23729	protein-coding gene	gene with protein product		601332	"""chromosome 10 open reading frame 48"", ""iroquois homeobox protein-like 1"""	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.349-1G>A	10.37:g.28024303C>T						MKX_uc001itx.3_Missense_Mutation_p.V117M	p.V117M	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN			4	574	-			117			Homeobox; TALE-type.		B3KWM5	Missense_Mutation	SNP	ENST00000375790.5	37	c.349G>A	CCDS7156.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809716	0.90707	.	.	ENSG00000150051	ENST00000375790;ENST00000419761	D;D	0.90563	-2.69;-2.69	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97012	0.9024	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97335	0.9953	10	0.87932	D	0	-27.5914	20.3151	0.98650	0.0:1.0:0.0:0.0	.	117	Q8IYA7	MKX_HUMAN	M	117	ENSP00000364946:V117M;ENSP00000400896:V117M	ENSP00000364946:V117M	V	-	1	0	MKX	28064309	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.794000	0.85869	2.809000	0.96659	0.467000	0.42956	GTG		PASS	0.358	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047332.3	NM_173576	Missense_Mutation	24	56	24	56	---	---	---	---
ARMC4	55130	broad.mit.edu	37	10	28151364	28151364	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:28151364G>T	ENST00000305242.5	-	18	2890	c.2798C>A	c.(2797-2799)aCa>aAa	p.T933K	ARMC4_ENST00000545014.1_Splice_Site_p.T458K|ARMC4_ENST00000537576.1_Splice_Site_p.T625K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	933					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.T933K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTACTTACTGTATTTGCCAG	0.358																																						uc009xky.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2797-2799)ACA>AAA		armadillo repeat containing 4							162.0	141.0	148.0					10																	28151364		2202	4300	6502	SO:0001630	splice_region_variant	55130						binding	g.chr10:28151364G>T	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.2799+1C>A	10.37:g.28151364G>T						ARMC4_uc010qds.1_Missense_Mutation_p.T458K|ARMC4_uc010qdt.1_Missense_Mutation_p.T625K|ARMC4_uc001itz.2_Missense_Mutation_p.T933K	p.T933K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			18	2896	-			933			ARM 8.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.2798C>A	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453372	0.84209	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;T	0.95001	-3.58;-3.58;-0.12	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.089924	0.85682	D	0.000000	D	0.97623	0.9221	M	0.88105	2.93	0.80722	D	1	D;P	0.63046	0.992;0.496	D;B	0.66351	0.943;0.25	D	0.96950	0.9694	10	0.44086	T	0.13	-31.3113	20.2789	0.98501	0.0:0.0:1.0:0.0	.	458;933	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	K	625;933;458	ENSP00000443208:T625K;ENSP00000306410:T933K;ENSP00000441076:T458K	ENSP00000306410:T933K	T	-	2	0	ARMC4	28191370	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.653000	0.98506	2.788000	0.95919	0.650000	0.86243	ACA		PASS	0.358	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	Missense_Mutation	35	48	35	48	---	---	---	---
ASAH2	56624	broad.mit.edu	37	10	52005134	52005134	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:52005134T>A	ENST00000395526.4	-	2	207	c.208A>T	c.(208-210)Acc>Tcc	p.T70S	ASAH2_ENST00000329428.6_Missense_Mutation_p.T51S|ASAH2_ENST00000447815.1_Missense_Mutation_p.T70S	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	70					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)	p.T70S(1)|p.T51S(1)		large_intestine(1)|lung(9)|urinary_tract(1)	11						GAATGCTGGGTGGCTGTGGAG	0.517																																						uc001jjd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(208-210)ACC>TCC		N-acylsphingosine amidohydrolase 2 isoform a							88.0	96.0	93.0					10																	52005134		2203	4300	6503	SO:0001583	missense	56624				apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity	g.chr10:52005134T>A	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.208A>T	10.37:g.52005134T>A	ENSP00000378897:p.Thr70Ser					ASAH2_uc009xos.2_Missense_Mutation_p.T70S	p.T70S	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN			2	208	-			70			Lumenal (Potential).		Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	37	c.208A>T	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	T	3.000	-0.206229	0.06180	.	.	ENSG00000188611	ENST00000395526;ENST00000447815;ENST00000329428	T;T;T	0.29917	1.57;1.55;1.56	2.76	-1.61	0.08399	.	3.460150	0.02291	N	0.070329	T	0.15435	0.0372	N	0.14661	0.345	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.09377	0.003;0.004	T	0.13124	-1.0521	10	0.07813	T	0.8	.	4.8558	0.13559	0.1589:0.0:0.2599:0.5812	.	70;70	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	S	70;70;51	ENSP00000378897:T70S;ENSP00000388206:T70S;ENSP00000329886:T51S	ENSP00000329886:T51S	T	-	1	0	ASAH2	51675140	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.884000	0.04166	-0.713000	0.04981	0.459000	0.35465	ACC		PASS	0.517	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893		51	29	51	29	---	---	---	---
DKK1	22943	broad.mit.edu	37	10	54074771	54074771	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:54074771G>T	ENST00000373970.3	+	2	471	c.332G>T	c.(331-333)tGt>tTt	p.C111F	DKK1_ENST00000467359.1_3'UTR|PRKG1-AS1_ENST00000420193.1_RNA	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	111	DKK-type Cys-1.				cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)	p.C111F(1)		kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GTGCAAATCTGTCTCGCCTGC	0.607											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jjr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(331-333)TGT>TTT		dickkopf homolog 1 precursor							46.0	41.0	43.0					10																	54074771		2203	4300	6503	SO:0001583	missense	22943				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity	g.chr10:54074771G>T		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.332G>T	10.37:g.54074771G>T	ENSP00000363081:p.Cys111Phe		OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	997	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	p.C111F	NM_012242	NP_036374	O94907	DKK1_HUMAN			2	486	+			111			DKK-type Cys-1.		B2RC19	Missense_Mutation	SNP	ENST00000373970.3	37	c.332G>T	CCDS7246.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002735	0.93227	.	.	ENSG00000107984	ENST00000373970	T	0.74315	-0.83	5.63	5.63	0.86233	Dickkopf, N-terminal cysteine-rich (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89071	0.3469	10	0.87932	D	0	-0.5911	19.2694	0.94003	0.0:0.0:1.0:0.0	.	111	O94907	DKK1_HUMAN	F	111	ENSP00000363081:C111F	ENSP00000363081:C111F	C	+	2	0	DKK1	53744777	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.373000	0.97168	2.639000	0.89480	0.650000	0.86243	TGT		PASS	0.607	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048100.1			10	24	10	24	---	---	---	---
TSPAN15	23555	broad.mit.edu	37	10	71265996	71265996	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:71265996G>T	ENST00000373290.2	+	7	857	c.735G>T	c.(733-735)caG>caT	p.Q245H	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	245					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.Q245H(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TGCTTCCCCAGGTGGGCAGGC	0.557																																						uc001jpo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)CAG>CAT		transmembrane 4 superfamily member 15							91.0	70.0	77.0					10																	71265996		2203	4300	6503	SO:0001630	splice_region_variant	23555					integral to plasma membrane|membrane fraction		g.chr10:71265996G>T	AY358934	CCDS7294.1	10q22.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000099282	ENSG00000099282		"""Tetraspanins"""	23298	protein-coding gene	gene with protein product		613140	"""transmembrane 4 superfamily member 15"""	TM4SF15		11739647, 10719184	Standard	NM_012339		Approved	NET-7	uc001jpo.1	O95858	OTTHUMG00000018381	ENST00000373290.2:c.735+1G>T	10.37:g.71265996G>T							p.Q245H	NM_012339	NP_036471	O95858	TSN15_HUMAN			7	860	+			245			Helical; (Potential).		Q6UW79	Missense_Mutation	SNP	ENST00000373290.2	37	c.735G>T	CCDS7294.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104501	0.77096	.	.	ENSG00000099282	ENST00000373290;ENST00000452130	T;T	0.81415	-1.49;-1.49	5.54	4.63	0.57726	.	0.098581	0.64402	D	0.000001	D	0.91226	0.7235	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92837	0.6285	10	0.87932	D	0	-19.7295	13.5902	0.61955	0.077:0.0:0.923:0.0	.	245	O95858	TSN15_HUMAN	H	245;154	ENSP00000362387:Q245H;ENSP00000404528:Q154H	ENSP00000362387:Q245H	Q	+	3	2	TSPAN15	70936002	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	5.371000	0.66150	1.331000	0.45412	0.591000	0.81541	CAG		PASS	0.557	TSPAN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048444.1	NM_012339	Missense_Mutation	24	33	24	33	---	---	---	---
NEUROG3	50674	broad.mit.edu	37	10	71332658	71332658	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:71332658C>T	ENST00000242462.4	-	2	171	c.142G>A	c.(142-144)Gag>Aag	p.E48K	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	48					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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)|transcription coactivator activity (GO:0003713)	p.E48K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCTTCCGCCTCTGCGCAGTTC	0.721																																						uc001jpp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)GAG>AAG		neurogenin 3							13.0	14.0	14.0					10																	71332658		2195	4292	6487	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332658C>T	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.142G>A	10.37:g.71332658C>T	ENSP00000242462:p.Glu48Lys						p.E48K	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	300	-			48					Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.142G>A	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493247	0.44352	.	.	ENSG00000122859	ENST00000242462	D	0.94417	-3.42	4.69	3.77	0.43336	.	0.220878	0.23268	U	0.050053	D	0.89083	0.6614	L	0.27053	0.805	0.09310	N	1	P	0.35077	0.483	B	0.33339	0.162	T	0.80627	-0.1298	10	0.34782	T	0.22	-16.5028	12.9626	0.58466	0.0:0.6888:0.3112:0.0	.	48	Q9Y4Z2	NGN3_HUMAN	K	48	ENSP00000242462:E48K	ENSP00000242462:E48K	E	-	1	0	NEUROG3	71002664	0.002000	0.14202	0.024000	0.17045	0.098000	0.18820	1.086000	0.30853	1.145000	0.42336	0.655000	0.94253	GAG		PASS	0.721	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		6	20	6	20	---	---	---	---
ECD	11319	broad.mit.edu	37	10	74899087	74899087	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:74899087G>A	ENST00000372979.4	-	11	1607	c.1401C>T	c.(1399-1401)caC>caT	p.H467H	ECD_ENST00000430082.2_Silent_p.H500H|ECD_ENST00000454759.2_Silent_p.H424H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	467					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.H467H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					CTGCTCCCTTGTGGGTTGAGA	0.393																																						uc001jtn.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(1399-1401)CAC>CAT		suppressor of S. cerevisiae gcr2 isoform 1							98.0	99.0	99.0					10																	74899087		2203	4300	6503	SO:0001819	synonymous_variant	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74899087G>A	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1401C>T	10.37:g.74899087G>A						ECD_uc009xqx.2_Silent_p.H500H|ECD_uc009xqy.2_Silent_p.H424H|ECD_uc001jto.2_Silent_p.H166H	p.H467H	NM_007265	NP_009196	O95905	SGT1_HUMAN			11	1644	-	Prostate(51;0.0119)		467					C9JX46|E9PAW8	Silent	SNP	ENST00000372979.4	37	c.1401C>T	CCDS7321.1																																																																																				PASS	0.393	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	NM_007265		11	67	11	67	---	---	---	---
C10orf12	26148	broad.mit.edu	37	10	98743831	98743831	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:98743831G>T	ENST00000286067.2	+	1	2791	c.2684G>T	c.(2683-2685)cGc>cTc	p.R895L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	895								p.R895L(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTCAATACTCGCCTTCCAGGA	0.433																																						uc001kmv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2683-2685)CGC>CTC		hypothetical protein LOC26148							82.0	81.0	81.0					10																	98743831		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743831G>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2684G>T	10.37:g.98743831G>T	ENSP00000286067:p.Arg895Leu						p.R895L	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	2791	+		Colorectal(252;0.172)	895					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2684G>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157177	0.78114	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.37058	1.22	5.71	5.71	0.89125	.	0.344559	0.19766	N	0.106560	T	0.62196	0.2408	M	0.65498	2.005	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.62642	-0.6811	10	0.87932	D	0	-3.6989	19.8672	0.96808	0.0:0.0:1.0:0.0	.	895	Q8N655	CJ012_HUMAN	L	895;729	ENSP00000286067:R895L	ENSP00000286067:R895L	R	+	2	0	C10orf12	98733821	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.450000	0.97607	2.718000	0.92993	0.655000	0.94253	CGC		PASS	0.433	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		31	54	31	54	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	107005322	107005322	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:107005322G>T	ENST00000369701.3	+	21	3118	c.2891G>T	c.(2890-2892)aGc>aTc	p.S964I	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	964					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.S964I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGGACAGCAGCATTTCCTTC	0.448																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2890-2892)AGC>ATC		VPS10 domain receptor protein SORCS 3 precursor							233.0	192.0	206.0					10																	107005322		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107005322G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2891G>T	10.37:g.107005322G>T	ENSP00000358715:p.Ser964Ile					SORCS3_uc010qqz.1_RNA	p.S964I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	21	3118	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	964			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2891G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275526	0.95459	.	.	ENSG00000156395	ENST00000369701	T	0.45276	0.9	5.96	5.96	0.96718	PKD domain (1);	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.80746	2.51	0.80722	D	1	D	0.59357	0.985	P	0.56751	0.805	T	0.64145	-0.6476	9	.	.	.	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	964	Q9UPU3	SORC3_HUMAN	I	964	ENSP00000358715:S964I	.	S	+	2	0	SORCS3	106995312	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.476000	0.97823	2.823000	0.97156	0.650000	0.86243	AGC		PASS	0.448	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		52	57	52	57	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	107016620	107016620	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:107016620G>A	ENST00000369701.3	+	25	3608	c.3381G>A	c.(3379-3381)atG>atA	p.M1127I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1127					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.M1127I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCTCAGCCATGCTTATGCTAT	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3379-3381)ATG>ATA		VPS10 domain receptor protein SORCS 3 precursor							171.0	144.0	153.0					10																	107016620		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107016620G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3381G>A	10.37:g.107016620G>A	ENSP00000358715:p.Met1127Ile						p.M1127I	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	25	3608	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1127			Helical; (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3381G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.680159	0.88542	.	.	ENSG00000156395	ENST00000369701	T	0.14391	2.51	5.93	5.93	0.95920	.	0.133751	0.64402	D	0.000003	T	0.17492	0.0420	L	0.32530	0.975	0.80722	D	1	P	0.42483	0.781	P	0.44732	0.459	T	0.00981	-1.1492	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1127	Q9UPU3	SORC3_HUMAN	I	1127	ENSP00000358715:M1127I	.	M	+	3	0	SORCS3	107006610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.359000	0.97115	2.826000	0.97356	0.655000	0.94253	ATG		PASS	0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		39	26	39	26	---	---	---	---
PPAPDC1A	196051	broad.mit.edu	37	10	122334709	122334709	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:122334709G>T	ENST00000398250.1	+	6	864	c.512G>T	c.(511-513)aGt>aTt	p.S171I	PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.S108I|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S161I|PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.S171I	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	171					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.S171I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TTCACCGAGAGTGGGCGGGGA	0.577																																						uc001lev.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(511-513)AGT>ATT		phosphatidic acid phosphatase type 2 domain							99.0	102.0	101.0					10																	122334709		2114	4249	6363	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122334709G>T	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.512G>T	10.37:g.122334709G>T	ENSP00000381302:p.Ser171Ile					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.S171I|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.S108I|PPAPDC1A_uc001lew.1_Missense_Mutation_p.V78L|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.S50I	p.S171I	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	6	864	+		Lung NSC(174;0.1)|all_lung(145;0.132)	171					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.512G>T	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081686	0.36758	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.49139	0.79;0.79;0.81;0.8	5.52	4.51	0.55191	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.317301	0.40385	N	0.001106	T	0.31702	0.0805	L	0.36672	1.1	0.29661	N	0.843197	B;B;B	0.16603	0.002;0.018;0.007	B;B;B	0.18263	0.021;0.007;0.015	T	0.09100	-1.0690	10	0.24483	T	0.36	-27.4129	4.5561	0.12136	0.1722:0.0:0.6131:0.2146	.	171;108;171	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	I	108;171;171;171;161	ENSP00000381302:S171I;ENSP00000407979:S171I;ENSP00000440493:S171I;ENSP00000358069:S161I	ENSP00000358069:S161I	S	+	2	0	PPAPDC1A	122324699	0.981000	0.34729	0.996000	0.52242	0.996000	0.88848	2.242000	0.43106	2.603000	0.88011	0.655000	0.94253	AGT		PASS	0.577	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		59	43	59	43	---	---	---	---
CFAP46	54777	broad.mit.edu	37	10	134743117	134743117	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:134743117C>A	ENST00000368585.3	-	9	1396	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron														p.R295M(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GGGCCGTGGCCTGGTGAACTG	0.532																																						uc001llt.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1057-1059)AGG>ATG		hypothetical protein LOC255352							127.0	113.0	118.0					10																	134743117		2203	4300	6503	SO:0001583	missense	255352						binding	g.chr10:134743117C>A																												ENST00000368585.3:c.1058G>T	10.37:g.134743117C>A	ENSP00000357574:p.Arg353Met						p.R353M	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)	9	1134	-		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000368585.3	37	c.1058G>T		.	.	.	.	.	.	.	.	.	.	C	6.748	0.506853	0.12883	.	.	ENSG00000171811	ENST00000368585	T	0.51817	0.69	1.98	-2.19	0.07015	.	8.932570	0.00397	U	0.000050	T	0.33294	0.0858	N	0.14661	0.345	0.09310	N	1	P	0.40197	0.706	B	0.40982	0.345	T	0.29150	-1.0021	10	0.72032	D	0.01	.	6.243	0.20801	0.0:0.5838:0.0:0.4162	.	353	Q5SR76-1	.	M	353	ENSP00000357574:R353M	ENSP00000357574:R353M	R	-	2	0	C10orf93	134593107	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.380000	0.02551	-0.574000	0.05990	-0.424000	0.05967	AGG		PASS	0.532	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000051099.1			85	47	85	47	---	---	---	---
KNDC1	85442	broad.mit.edu	37	10	135000076	135000076	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:135000076C>A	ENST00000304613.3	+	6	1245	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	KNDC1_ENST00000368572.2_Silent_p.A408A|KNDC1_ENST00000368571.2_Silent_p.A343A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	408					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A408A(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGCAGAGGCCCCTGCAGACC	0.672																																						uc001llz.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1222-1224)GCC>GCA		kinase non-catalytic C-lobe domain (KIND)							26.0	34.0	32.0					10																	135000076		2202	4299	6501	SO:0001819	synonymous_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135000076C>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1224C>A	10.37:g.135000076C>A						KNDC1_uc001lma.1_Silent_p.A343A	p.A408A	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	6	1225	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	408					B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.1224C>A	CCDS7674.1																																																																																				PASS	0.672	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		6	53	6	53	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135440199	135440199	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:135440199C>A	ENST00000425520.1	-	1	100	c.48G>T	c.(46-48)caG>caT	p.Q16H	FRG2B_ENST00000443774.1_Missense_Mutation_p.Q16H	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	16						nucleus (GO:0005634)		p.Q16H(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGTGGAGCACTGGATGGAGG	0.512																																						uc010qvg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)CAG>CAT		FSHD region gene 2 family, member B							204.0	232.0	222.0					10																	135440199		2203	4299	6502	SO:0001583	missense	441581					nucleus		g.chr10:135440199C>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.48G>T	10.37:g.135440199C>A	ENSP00000401310:p.Gln16His						p.Q16H	NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	101	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	16					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.48G>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	1.656	-0.512727	0.04200	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.34859	1.34;1.34	0.109	-0.218	0.13142	.	1.392910	0.05275	N	0.518393	T	0.23766	0.0575	N	0.19112	0.55	0.09310	N	1	P	0.35656	0.514	B	0.38056	0.264	T	0.12066	-1.0562	9	0.72032	D	0.01	.	.	.	.	.	16	Q96QU4	FRG2B_HUMAN	H	16	ENSP00000408343:Q16H;ENSP00000401310:Q16H	ENSP00000401310:Q16H	Q	-	3	2	FRG2B	135290189	0.566000	0.26618	0.011000	0.14972	0.011000	0.07611	-1.035000	0.03564	-1.122000	0.02945	-1.109000	0.02080	CAG		PASS	0.512	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		22	348	22	348	---	---	---	---
RASSF7	8045	broad.mit.edu	37	11	563234	563234	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:563234T>A	ENST00000397583.3	+	4	1301	c.868T>A	c.(868-870)Tgc>Agc	p.C290S	RASSF7_ENST00000397582.3_Missense_Mutation_p.C290S|RASSF7_ENST00000454668.2_Missense_Mutation_p.C290S|RASSF7_ENST00000344375.4_Missense_Mutation_p.C290S|MIR210HG_ENST00000500447.1_lincRNA|RASSF7_ENST00000431809.1_Missense_Mutation_p.C290S|C11orf35_ENST00000329451.3_5'Flank	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	290					apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.C290S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTCCGTCAGTGCAACCTGCA	0.657																																					Pancreas(184;1170 3913 7268)	uc001lqc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(868-870)TGC>AGC		Ras association (RalGDS/AF-6) domain family							32.0	35.0	34.0					11																	563234		2203	4299	6502	SO:0001583	missense	8045				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding	g.chr11:563234T>A	M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.868T>A	11.37:g.563234T>A	ENSP00000380713:p.Cys290Ser					C11orf35_uc001lpx.2_5'Flank|RASSF7_uc001lqa.2_Missense_Mutation_p.C290S|RASSF7_uc001lqb.2_Missense_Mutation_p.C290S|RASSF7_uc001lqd.2_Missense_Mutation_p.C290S	p.C290S	NM_003475	NP_003466	Q02833	RASF7_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	4	903	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	290			Potential.		G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	ENST00000397583.3	37	c.868T>A	CCDS7702.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237684	0.58886	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668	D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04	3.24	3.24	0.37175	.	0.055000	0.85682	D	0.000000	D	0.93680	0.7981	M	0.65498	2.005	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.96;0.982	D	0.91291	0.5059	10	0.10377	T	0.69	0.8919	11.7285	0.51722	0.0:0.0:0.0:1.0	.	290;290;290	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	S	290	ENSP00000403068:C290S;ENSP00000380712:C290S;ENSP00000344226:C290S;ENSP00000380713:C290S;ENSP00000405606:C290S	ENSP00000344226:C290S	C	+	1	0	RASSF7	553234	1.000000	0.71417	0.997000	0.53966	0.457000	0.32468	4.661000	0.61518	1.360000	0.45960	0.379000	0.24179	TGC		PASS	0.657	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254972.2	NM_003475		22	2	22	2	---	---	---	---
OR52J3	119679	broad.mit.edu	37	11	5068285	5068285	+	Missense_Mutation	SNP	C	C	A	rs372168511		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:5068285C>A	ENST00000380370.1	+	1	530	c.530C>A	c.(529-531)gCc>gAc	p.A177D		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A177D(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACATAATAGCCCATTCCTAC	0.423																																						uc010qyv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(529-531)GCC>GAC		olfactory receptor, family 52, subfamily J,							191.0	160.0	171.0					11																	5068285		2201	4298	6499	SO:0001583	missense	119679				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5068285C>A	AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.530C>A	11.37:g.5068285C>A	ENSP00000369728:p.Ala177Asp						p.A177D	NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	530	+		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)	177			Extracellular (Potential).		Q6IFE4	Missense_Mutation	SNP	ENST00000380370.1	37	c.530C>A	CCDS31370.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111024	0.37242	.	.	ENSG00000205495	ENST00000380370	T	0.34859	1.34	3.88	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.669254	0.12962	N	0.424936	T	0.43077	0.1231	L	0.42744	1.35	0.09310	N	1	P	0.41546	0.754	P	0.53185	0.72	T	0.25606	-1.0127	10	0.87932	D	0	.	7.9466	0.29991	0.1824:0.6409:0.1767:0.0	.	177	Q8NH60	O52J3_HUMAN	D	177	ENSP00000369728:A177D	ENSP00000369728:A177D	A	+	2	0	OR52J3	5024861	0.000000	0.05858	0.707000	0.30419	0.716000	0.41182	-0.850000	0.04317	0.935000	0.37341	-0.182000	0.12963	GCC		PASS	0.423	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1	NM_001001916		59	10	59	10	---	---	---	---
OR56A4	120793	broad.mit.edu	37	11	6023918	6023918	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:6023918A>T	ENST00000330728.4	-	1	506	c.461T>A	c.(460-462)cTc>cAc	p.L154H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L154H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACATCTGGAGGAAGCAGGC	0.532																																						uc010qzv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(460-462)CTC>CAC		olfactory receptor, family 56, subfamily A,							87.0	80.0	82.0					11																	6023918		2201	4296	6497	SO:0001583	missense	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023918A>T	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.461T>A	11.37:g.6023918A>T	ENSP00000328215:p.Leu154His						p.L154H	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	461	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	102			Extracellular (Potential).		B9EH17	Missense_Mutation	SNP	ENST00000330728.4	37	c.461T>A	CCDS31404.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816485	0.50527	.	.	ENSG00000183389	ENST00000330728	T	0.03358	3.96	3.27	2.06	0.26882	GPCR, rhodopsin-like superfamily (1);	0.927592	0.08691	U	0.907976	T	0.18002	0.0432	M	0.90483	3.12	0.29279	N	0.870168	P	0.51449	0.945	P	0.58577	0.841	T	0.04522	-1.0945	10	0.87932	D	0	.	7.7474	0.28877	0.8908:0.0:0.1092:0.0	.	102	Q8NGH8	O56A4_HUMAN	H	154	ENSP00000328215:L154H	ENSP00000328215:L154H	L	-	2	0	OR56A4	5980494	0.003000	0.15002	0.999000	0.59377	0.889000	0.51656	1.570000	0.36439	0.404000	0.25506	0.413000	0.27773	CTC		PASS	0.532	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		32	11	32	11	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974874	49974874	+	Nonsense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:49974874T>A	ENST00000555099.1	+	1	932	c.900T>A	c.(898-900)tgT>tgA	p.C300*		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C300*(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GGAAATTGTGTAGTAGGAAAG	0.388																																						uc010rhz.1																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)	4						c.(898-900)TGT>TGA		olfactory receptor, family 4, subfamily C,							34.0	34.0	34.0					11																	49974874		2181	4282	6463	SO:0001587	stop_gained	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974874T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.900T>A	11.37:g.49974874T>A	ENSP00000452277:p.Cys300*						p.C300*	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	900	+			300			Cytoplasmic (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Nonsense_Mutation	SNP	ENST00000555099.1	37	c.900T>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	9.917	1.211084	0.22289	.	.	ENSG00000258817	ENST00000555099	.	.	.	2.77	-3.97	0.04094	.	0.602723	0.13688	U	0.369735	.	.	.	.	.	.	0.23677	N	0.997133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9117	0.01296	0.1649:0.2462:0.3343:0.2546	.	.	.	.	X	300	.	.	C	+	3	2	OR4C13	49931450	0.000000	0.05858	0.006000	0.13384	0.171000	0.22731	-1.159000	0.03150	-0.482000	0.06782	0.156000	0.16432	TGT		PASS	0.388	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		23	6	23	6	---	---	---	---
TRIM48	79097	broad.mit.edu	37	11	55032389	55032389	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:55032389G>C	ENST00000417545.2	+	2	144	c.58G>C	c.(58-60)Gga>Cga	p.G20R		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	4						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G20R(1)|p.G4R(1)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CATGAATTCTGGAATCTCGCA	0.468																																						uc010rid.1																			2	Substitution - Missense(2)		lung(2)		0						c.(58-60)GGA>CGA		tripartite motif-containing 48							130.0	143.0	139.0					11																	55032389		2186	4246	6432	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032389G>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.58G>C	11.37:g.55032389G>C	ENSP00000402414:p.Gly20Arg						p.G20R	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	144	+			4					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.58G>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	.	1.272	-0.612820	0.03690	.	.	ENSG00000150244	ENST00000417545	T	0.72942	-0.7	0.596	0.596	0.17496	.	.	.	.	.	T	0.55305	0.1912	L	0.29908	0.895	0.09310	N	1	B	0.15473	0.013	B	0.20577	0.03	T	0.47394	-0.9121	9	0.41790	T	0.15	.	7.1377	0.25537	1.0E-4:0.0:0.9999:0.0	.	4	Q8IWZ4	TRI48_HUMAN	R	20	ENSP00000402414:G20R	ENSP00000402414:G20R	G	+	1	0	TRIM48	54788965	0.012000	0.17670	0.002000	0.10522	0.002000	0.02628	0.040000	0.13905	0.629000	0.30376	0.413000	0.27773	GGA		PASS	0.468	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			170	8	170	8	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55433053	55433053	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:55433053G>T	ENST00000314259.3	+	1	440	c.411G>T	c.(409-411)cgG>cgT	p.R137R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R137R(1)|p.R137L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGAGTCCACGGGTGTGCTGCC	0.512																																						uc001nht.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	skin(2)	2						c.(409-411)CGG>CGT		olfactory receptor, family 4, subfamily C,							98.0	93.0	95.0					11																	55433053		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433053G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.411G>T	11.37:g.55433053G>T						OR4C6_uc010rik.1_Silent_p.R137R	p.R137R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	676	+			137			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.411G>T	CCDS31506.1																																																																																				PASS	0.512	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		7	61	7	61	---	---	---	---
OR5W2	390148	broad.mit.edu	37	11	55681456	55681456	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:55681456G>T	ENST00000344514.1	-	1	602	c.603C>A	c.(601-603)acC>acA	p.T201T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T201T(3)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACCAAAGACGGTGAATAACA	0.388																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|skin(1)	2						c.(601-603)ACC>ACA		olfactory receptor, family 5, subfamily W,							61.0	63.0	62.0					11																	55681456		2201	4296	6497	SO:0001819	synonymous_variant	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681456G>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.603C>A	11.37:g.55681456G>T							p.T201T	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	603	-			201			Helical; Name=5; (Potential).			Silent	SNP	ENST00000344514.1	37	c.603C>A	CCDS31513.1																																																																																				PASS	0.388	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		31	40	31	40	---	---	---	---
LRRC55	219527	broad.mit.edu	37	11	56954748	56954748	+	Missense_Mutation	SNP	C	C	G	rs377055442		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:56954748C>G	ENST00000497933.1	+	2	967	c.820C>G	c.(820-822)Cct>Gct	p.P274A		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	244					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P274A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCGGGGCCCTCCTGAAGTCGA	0.587																																						uc001njl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(820-822)CCT>GCT		leucine rich repeat containing 55		C	ALA/PRO	2,4400	4.2+/-10.8	0,2,2199	81.0	72.0	75.0		820	5.7	1.0	11		75	0,8592		0,0,4296	no	missense	LRRC55	NM_001005210.2	27	0,2,6495	GG,GC,CC		0.0,0.0454,0.0154	benign	274/342	56954748	2,12992	2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56954748C>G		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	ENST00000497933.1:c.820C>G	11.37:g.56954748C>G	ENSP00000419542:p.Pro274Ala					LRRC55_uc001njm.1_5'Flank	p.P274A	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN			2	967	+			244			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.820C>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.982457	0.53827	4.54E-4	0.0	ENSG00000183908	ENST00000497933	T	0.20881	2.04	5.74	5.74	0.90152	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000017	T	0.12347	0.0300	N	0.12920	0.275	0.45806	D	0.998686	B	0.19200	0.034	B	0.19148	0.024	T	0.05699	-1.0869	10	0.02654	T	1	.	16.8401	0.85966	0.0:1.0:0.0:0.0	.	244	Q6ZSA7	LRC55_HUMAN	A	274	ENSP00000419542:P274A	ENSP00000419542:P274A	P	+	1	0	LRRC55	56711324	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.109000	0.57824	2.712000	0.92718	0.563000	0.77884	CCT		PASS	0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		45	73	45	73	---	---	---	---
PRG2	5553	broad.mit.edu	37	11	57155270	57155270	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:57155270C>A	ENST00000311862.5	-	5	640	c.567G>T	c.(565-567)caG>caT	p.Q189H	PRG2_ENST00000525955.1_Missense_Mutation_p.Q189H|PRG2_ENST00000533605.1_Missense_Mutation_p.Q178H	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	189	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)	p.Q189H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				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)	Sargramostim(DB00020)	GGGACCAGGGCTGGTGAGCAG	0.622																																						uc001njz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(565-567)CAG>CAT		proteoglycan 2 preproprotein	Sargramostim(DB00020)						21.0	22.0	22.0					11																	57155270		2196	4293	6489	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57155270C>A	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.567G>T	11.37:g.57155270C>A	ENSP00000312134:p.Gln189His					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.Q189H|PRG2_uc001nkb.2_Missense_Mutation_p.Q189H|PRG2_uc001nkd.2_Missense_Mutation_p.Q178H|PRG2_uc001nkc.2_Missense_Mutation_p.Q189H|PRG2_uc001nke.2_Missense_Mutation_p.Q469H	p.Q189H	NM_002728	NP_002719	P13727	PRG2_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)	4	594	-			189			C-type lectin.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.567G>T	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043496	0.55003	.	.	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.48201	0.82;0.82;0.82	4.88	-1.91	0.07641	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.154395	0.29964	N	0.010742	T	0.58991	0.2161	H	0.95043	3.615	0.09310	N	1	B;D	0.56521	0.115;0.976	B;P	0.50440	0.045;0.641	T	0.55528	-0.8127	10	0.59425	D	0.04	.	3.4066	0.07343	0.2806:0.3778:0.0:0.3416	.	178;189	A6XMW0;P13727	.;PRG2_HUMAN	H	189;178;189	ENSP00000312134:Q189H;ENSP00000433231:Q178H;ENSP00000433016:Q189H	ENSP00000312134:Q189H	Q	-	3	2	PRG2	56911846	0.055000	0.20627	0.021000	0.16686	0.023000	0.10783	-0.491000	0.06474	-0.411000	0.07530	0.650000	0.86243	CAG		PASS	0.622	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728		7	13	7	13	---	---	---	---
OR9Q2	219957	broad.mit.edu	37	11	57958004	57958004	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:57958004T>C	ENST00000311591.3	+	1	99	c.42T>C	c.(40-42)ctT>ctC	p.L14L		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14L(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				AGTTCTTCCTTACTGCATTTA	0.478																																						uc010rka.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(40-42)CTT>CTC		olfactory receptor, family 9, subfamily Q,							125.0	115.0	118.0					11																	57958004		2201	4296	6497	SO:0001819	synonymous_variant	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958004T>C	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.42T>C	11.37:g.57958004T>C							p.L14L	NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN			1	42	+		Breast(21;0.0589)	14			Extracellular (Potential).			Silent	SNP	ENST00000311591.3	37	c.42T>C	CCDS31544.1																																																																																				PASS	0.478	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		55	68	55	68	---	---	---	---
OR4D11	219986	broad.mit.edu	37	11	59271742	59271742	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:59271742G>C	ENST00000313253.1	+	1	694	c.694G>C	c.(694-696)Ggc>Cgc	p.G232R		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G232R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGCAGGAGGGGGCAGGAGGAA	0.542																																						uc001noa.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(694-696)GGC>CGC		olfactory receptor, family 4, subfamily D,							195.0	181.0	186.0					11																	59271742		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271742G>C	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.694G>C	11.37:g.59271742G>C	ENSP00000320077:p.Gly232Arg						p.G232R	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	694	+			232			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000313253.1	37	c.694G>C	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	10.07	1.249738	0.22880	.	.	ENSG00000176200	ENST00000313253	T	0.00295	8.25	5.44	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.388594	0.21704	N	0.070377	T	0.00784	0.0026	M	0.89601	3.045	0.09310	N	1	P	0.42735	0.788	D	0.66847	0.947	T	0.08764	-1.0706	10	0.72032	D	0.01	-13.0468	8.9902	0.36019	0.2815:0.0:0.7185:0.0	.	232	Q8NGI4	OR4DB_HUMAN	R	232	ENSP00000320077:G232R	ENSP00000320077:G232R	G	+	1	0	OR4D11	59028318	0.140000	0.22579	0.519000	0.27824	0.134000	0.20937	1.238000	0.32707	0.580000	0.29522	0.557000	0.71058	GGC		PASS	0.542	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		47	182	47	182	---	---	---	---
OR10V1	390201	broad.mit.edu	37	11	59480597	59480597	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:59480597G>T	ENST00000307552.2	-	1	740	c.722C>A	c.(721-723)aCc>aAc	p.T241N	STX3_ENST00000300150.7_5'Flank	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T241N(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGAAGAGCAGGTAGAGTAGGC	0.532																																						uc001nof.1																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)ACC>AAC		olfactory receptor, family 10, subfamily V,							85.0	78.0	80.0					11																	59480597		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59480597G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.722C>A	11.37:g.59480597G>T	ENSP00000302199:p.Thr241Asn						p.T241N	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	722	-			241			Helical; Name=6; (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.722C>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515424	0.64634	.	.	ENSG00000172289	ENST00000307552	T	0.40476	1.03	4.47	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.72566	0.3476	M	0.94101	3.495	0.46954	D	0.999266	D	0.89917	1.0	D	0.97110	1.0	T	0.80777	-0.1231	10	0.87932	D	0	.	15.2075	0.73190	0.0:0.0:1.0:0.0	.	241	Q8NGI7	O10V1_HUMAN	N	241	ENSP00000302199:T241N	ENSP00000302199:T241N	T	-	2	0	OR10V1	59237173	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.282000	0.95840	2.507000	0.84556	0.543000	0.68304	ACC		PASS	0.532	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		37	50	37	50	---	---	---	---
SCGB1D1	10648	broad.mit.edu	37	11	61960877	61960877	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:61960877A>G	ENST00000306238.3	+	3	319	c.250A>G	c.(250-252)Ata>Gta	p.I84V		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	84						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)	p.I84V(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TCAGGGAAAAATAGCAGAGAA	0.413																																						uc001nsz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(250-252)ATA>GTA		lipophilin A precursor							153.0	144.0	147.0					11																	61960877		2202	4299	6501	SO:0001583	missense	10648					extracellular space	binding	g.chr11:61960877A>G	AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.250A>G	11.37:g.61960877A>G	ENSP00000303070:p.Ile84Val						p.I84V	NM_006552	NP_006543	O95968	SG1D1_HUMAN			3	297	+			84						Missense_Mutation	SNP	ENST00000306238.3	37	c.250A>G	CCDS8015.1	.	.	.	.	.	.	.	.	.	.	A	8.797	0.932071	0.18131	.	.	ENSG00000168515	ENST00000306238	T	0.26373	1.74	3.25	-3.74	0.04385	.	0.602758	0.13252	N	0.402016	T	0.13415	0.0325	.	.	.	0.09310	N	1	B	0.31256	0.316	B	0.33521	0.165	T	0.25502	-1.0130	9	0.25751	T	0.34	.	5.2611	0.15573	0.3877:0.1756:0.4367:0.0	.	84	O95968	SG1D1_HUMAN	V	84	ENSP00000303070:I84V	ENSP00000303070:I84V	I	+	1	0	SCGB1D1	61717453	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-1.790000	0.01759	-0.869000	0.04052	0.482000	0.46254	ATA		PASS	0.413	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552		36	46	36	46	---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67046935	67046935	+	Missense_Mutation	SNP	G	G	A	rs71640262		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:67046935G>A	ENST00000308595.5	+	4	601	c.311G>A	c.(310-312)cGc>cAc	p.R104H	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R104H	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	104	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.R104H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGTGTGGCCCGCAGCCGGGAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18933	0.001		0.0	False		,,,				2504	0.0					uc009yrn.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(310-312)CGC>CAC		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						64.0	62.0	62.0					11																	67046935		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67046935G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.311G>A	11.37:g.67046935G>A	ENSP00000312262:p.Arg104His					ADRBK1_uc009yrm.1_Missense_Mutation_p.R104H	p.R104H	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	577	+			104			RGS.|N-terminal.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.311G>A	CCDS8156.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.34	2.207724	0.39003	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.01963	4.53;4.53	4.85	3.94	0.45596	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.441905	0.21270	N	0.077325	T	0.02767	0.0083	L	0.44542	1.39	0.23351	N	0.997858	P;P	0.52316	0.952;0.881	P;P	0.45119	0.463;0.47	T	0.49753	-0.8906	10	0.15499	T	0.54	-12.0719	9.6366	0.39811	0.1501:0.0:0.8499:0.0	.	104;104	P25098;E9PRV7	ARBK1_HUMAN;.	H	104	ENSP00000312262:R104H;ENSP00000434126:R104H	ENSP00000312262:R104H	R	+	2	0	ADRBK1	66803511	0.922000	0.31269	0.579000	0.28588	0.654000	0.38779	3.812000	0.55628	2.688000	0.91661	0.655000	0.94253	CGC		PASS	0.597	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		7	65	7	65	---	---	---	---
TENM4	26011	broad.mit.edu	37	11	78381477	78381477	+	Silent	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:78381477T>A	ENST00000278550.7	-	32	6375	c.5913A>T	c.(5911-5913)tcA>tcT	p.S1971S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1971					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S1971S(2)									AGTAGCCCACTGAGCGGATGG	0.542																																						uc001ozl.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(5911-5913)TCA>TCT		odz, odd Oz/ten-m homolog 4							59.0	60.0	60.0					11																	78381477		2000	4155	6155	SO:0001819	synonymous_variant	26011				signal transduction	integral to membrane		g.chr11:78381477T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5913A>T	11.37:g.78381477T>A						ODZ4_uc001ozk.3_Silent_p.S196S|ODZ4_uc009yvb.1_Silent_p.S555S	p.S1971S	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			32	6376	-			1971			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.5913A>T	CCDS44688.1																																																																																				PASS	0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			44	46	44	46	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85597249	85597249	+	Missense_Mutation	SNP	G	G	T	rs553174518		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:85597249G>T	ENST00000342404.3	+	5	566	c.350G>T	c.(349-351)cGc>cTc	p.R117L	CCDC83_ENST00000376067.1_Intron|CCDC83_ENST00000280245.4_Missense_Mutation_p.R117L|CCDC83_ENST00000529676.2_Intron			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	117								p.R117H(2)|p.R117L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACAGATATGCGCATGCAAATA	0.333																																						uc001pbh.1																			3	Substitution - Missense(3)		large_intestine(1)|lung(1)|endometrium(1)	skin(1)	1						c.(349-351)CGC>CTC		coiled-coil domain containing 83							61.0	56.0	58.0					11																	85597249		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85597249G>T	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.350G>T	11.37:g.85597249G>T	ENSP00000344512:p.Arg117Leu					CCDC83_uc001pbg.1_Missense_Mutation_p.R117L|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Intron	p.R117L	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			5	862	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	117			Potential.		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.350G>T		.	.	.	.	.	.	.	.	.	.	G	6.306	0.424561	0.11928	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	T;T	0.45668	0.89;0.9	5.26	4.35	0.52113	.	0.261751	0.34110	N	0.004242	T	0.49253	0.1546	M	0.63428	1.95	0.80722	D	1	P;D	0.54964	0.94;0.969	P;P	0.51895	0.593;0.683	T	0.47898	-0.9081	9	.	.	.	-0.2256	11.0699	0.47997	0.088:0.0:0.912:0.0	.	117;117	Q8IWF9;Q8IWF9-2	CCD83_HUMAN;.	L	117	ENSP00000280245:R117L;ENSP00000344512:R117L	.	R	+	2	0	CCDC83	85274897	0.996000	0.38824	0.891000	0.34965	0.054000	0.15201	1.194000	0.32174	1.200000	0.43188	0.650000	0.86243	CGC		PASS	0.333	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		13	23	13	23	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85627158	85627158	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:85627158A>G	ENST00000342404.3	+	10	1178	c.962A>G	c.(961-963)cAt>cGt	p.H321R	CCDC83_ENST00000376067.1_Missense_Mutation_p.H221R|CCDC83_ENST00000280245.4_Missense_Mutation_p.H352R|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	321								p.H352R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CATCTTAGTCATGAAAATAGC	0.383																																						uc001pbh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(961-963)CAT>CGT		coiled-coil domain containing 83							128.0	129.0	129.0					11																	85627158		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85627158A>G	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.962A>G	11.37:g.85627158A>G	ENSP00000344512:p.His321Arg					CCDC83_uc001pbg.1_Missense_Mutation_p.H352R|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.H221R	p.H321R	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			10	1474	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	321					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.962A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.518|7.518	0.656084|0.656084	0.14580|0.14580	.|.	.|.	ENSG00000150676|ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404|ENST00000526729	T;T;T|.	0.42131|.	0.98;0.98;0.98|.	5.17|5.17	-10.3|-10.3	0.00346|0.00346	.|.	2.502770|.	0.00883|.	N|.	0.002157|.	T|T	0.34658|0.34658	0.0905|0.0905	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	B;B;B|.	0.26400|.	0.103;0.148;0.148|.	B;B;B|.	0.24394|.	0.037;0.053;0.053|.	T|T	0.23154|0.23154	-1.0196|-1.0196	9|5	.|.	.|.	.|.	9.8738|9.8738	1.0022|1.0022	0.01479|0.01479	0.1571:0.312:0.2294:0.3015|0.1571:0.312:0.2294:0.3015	.|.	221;321;352|.	Q8IWF9-3;Q8IWF9;Q8IWF9-2|.	.;CCD83_HUMAN;.|.	R|V	352;221;321|226	ENSP00000280245:H352R;ENSP00000365235:H221R;ENSP00000344512:H321R|.	.|.	H|M	+|+	2|1	0|0	CCDC83|CCDC83	85304806|85304806	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.982000|-0.982000	0.03762|0.03762	-2.625000|-2.625000	0.00437|0.00437	-1.208000|-1.208000	0.01637|0.01637	CAT|ATG		PASS	0.383	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		133	116	133	116	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95825738	95825738	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:95825738C>T	ENST00000524717.1	-	2	2741	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	486					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G486D(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGTCTGCTGACCAAAAGAAGG	0.592			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Missense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(1456-1458)GGT>GAT		mastermind-like 2							42.0	46.0	44.0					11																	95825738		2000	4192	6192	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825738C>T	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1457G>A	11.37:g.95825738C>T	ENSP00000434552:p.Gly486Asp						p.G486D	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	2742	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	486					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.1457G>A	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424681	0.25639	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.62498	0.02;0.02	5.74	1.35	0.21983	.	0.858715	0.10298	N	0.691533	T	0.37865	0.1019	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.19148	0.024	T	0.19778	-1.0295	10	0.35671	T	0.21	-0.3503	6.8188	0.23845	0.1265:0.4193:0.3878:0.0663	.	486	Q8IZL2	MAML2_HUMAN	D	486	ENSP00000434552:G486D;ENSP00000412394:G486D	ENSP00000412394:G486D	G	-	2	0	MAML2	95465386	0.011000	0.17503	0.026000	0.17262	0.983000	0.72400	0.311000	0.19380	-0.040000	0.13580	0.555000	0.69702	GGT		PASS	0.592	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			51	72	51	72	---	---	---	---
MMP27	64066	broad.mit.edu	37	11	102565727	102565727	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:102565727T>A	ENST00000260229.4	-	7	1095	c.1004A>T	c.(1003-1005)aAc>aTc	p.N335I		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	335					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N335I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	ATCTCTGGGGTTCTCGTATGC	0.448																																						uc001phd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1003-1005)AAC>ATC		matrix metalloproteinase 27 precursor							99.0	96.0	97.0					11																	102565727		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102565727T>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1004A>T	11.37:g.102565727T>A	ENSP00000260229:p.Asn335Ile						p.N335I	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	7	1027	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	335			Hemopexin-like 2.		Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.1004A>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765928	0.49574	.	.	ENSG00000137675	ENST00000260229	T	0.02280	4.36	5.8	3.51	0.40186	Hemopexin/matrixin (2);	0.270860	0.31797	N	0.007047	T	0.02230	0.0069	L	0.31420	0.93	0.50039	D	0.999847	B	0.11235	0.004	B	0.14023	0.01	T	0.53947	-0.8366	10	0.40728	T	0.16	.	9.6784	0.40054	0.0:0.1426:0.0:0.8574	.	335	Q9H306	MMP27_HUMAN	I	335	ENSP00000260229:N335I	ENSP00000260229:N335I	N	-	2	0	MMP27	102070937	0.662000	0.27439	0.998000	0.56505	0.972000	0.66771	0.742000	0.26216	0.478000	0.27488	-0.274000	0.10170	AAC		PASS	0.448	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		4	55	4	55	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116744752	116744752	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:116744752A>G	ENST00000292055.4	-	12	1309	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Missense_Mutation_p.L483P|SIK3_ENST00000434315.2_Missense_Mutation_p.L324P|SIK3_ENST00000542607.1_Missense_Mutation_p.L377P|SIK3_ENST00000446921.2_Missense_Mutation_p.L435P	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	425					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.L483P(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAGCTTCTGCAGATCTTCCAT	0.453																																						uc001ppy.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(1273-1275)CTG>CCG		serine/threonine-protein kinase QSK							82.0	82.0	82.0					11																	116744752		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116744752A>G	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1274T>C	11.37:g.116744752A>G	ENSP00000292055:p.Leu425Pro					SIK3_uc001ppz.2_Missense_Mutation_p.L324P|SIK3_uc001pqa.2_Missense_Mutation_p.L377P	p.L425P	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			12	1310	-			425					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.1274T>C	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300834	0.81136	.	.	ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000542607;ENST00000434315	T;T;T;T	0.72725	-0.61;-0.65;-0.68;-0.23	5.33	5.33	0.75918	Protein kinase-like domain (1);	0.000000	0.31872	U	0.006934	T	0.79986	0.4541	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.81769	-0.0781	10	0.66056	D	0.02	.	15.283	0.73801	1.0:0.0:0.0:0.0	.	377;324;425	A1A5A8;A1A5A9;Q9Y2K2	.;.;SIK3_HUMAN	P	483;425;377;324	ENSP00000364449:L483P;ENSP00000292055:L425P;ENSP00000438108:L377P;ENSP00000415873:L324P	ENSP00000292055:L425P	L	-	2	0	SIK3	116249962	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	8.547000	0.90665	2.018000	0.59344	0.528000	0.53228	CTG		PASS	0.453	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		64	63	64	63	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118498595	118498595	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:118498595G>A	ENST00000361417.2	+	7	1467	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	PHLDB1_ENST00000356063.5_Silent_p.L352L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	352								p.L352L(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCCCCCGGCTGGGTGGGCAGC	0.647																																						uc001ptr.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1054-1056)CTG>CTA		pleckstrin homology-like domain, family B,							27.0	29.0	28.0					11																	118498595		2197	4295	6492	SO:0001819	synonymous_variant	23187							g.chr11:118498595G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1056G>A	11.37:g.118498595G>A						PHLDB1_uc010ryh.1_Silent_p.L351L|PHLDB1_uc001pts.2_Silent_p.L352L|PHLDB1_uc001ptt.2_Silent_p.L352L|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.L152L|PHLDB1_uc001ptw.1_5'Flank	p.L352L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	7	1409	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	352					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1056G>A	CCDS8401.1																																																																																				PASS	0.647	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		12	53	12	53	---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121391474	121391474	+	Silent	SNP	G	G	A	rs533109160	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:121391474G>A	ENST00000260197.7	+	9	1449	c.1320G>A	c.(1318-1320)tcG>tcA	p.S440S	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	440					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.S440S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACATGAGATCGGTCATCACCT	0.438													g|||	2	0.000399361	0.0	0.0	5008	,	,		18360	0.002		0.0	False		,,,				2504	0.0					uc001pxx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1318-1320)TCG>TCA		sortilin-related receptor containing LDLR class							72.0	73.0	73.0					11																	121391474		2203	4299	6502	SO:0001819	synonymous_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121391474G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1320G>A	11.37:g.121391474G>A							p.S440S	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	9	1400	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	440			Extracellular (Potential).		B2RNX7|Q92856	Silent	SNP	ENST00000260197.7	37	c.1320G>A	CCDS8436.1																																																																																				PASS	0.438	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		44	38	44	38	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125496665	125496665	+	Start_Codon_SNP	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr11:125496665T>C	ENST00000534070.1	+	2	257	c.2T>C	c.(1-3)aTg>aCg	p.M1T	CHEK1_ENST00000438015.1_Start_Codon_SNP_p.M1T|CHEK1_ENST00000428830.2_Start_Codon_SNP_p.M1T|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Start_Codon_SNP_p.M1T|CHEK1_ENST00000524737.1_Start_Codon_SNP_p.M1T|CHEK1_ENST00000544373.1_Start_Codon_SNP_p.M1T|CHEK1_ENST00000427383.2_Missense_Mutation_p.W92R	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	1	Interaction with CLSPN. {ECO:0000250}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)	p.M1T(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GGTGGAGTCATGGCAGTGCCC	0.532								Other conserved DNA damage response genes			OREG0021478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009zbo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|lung(2)|skin(1)	6						c.(1-3)ATG>ACG	Other_conserved_DNA_damage_response_genes	checkpoint kinase 1							218.0	205.0	209.0					11																	125496665		2201	4299	6500	SO:0001582	initiator_codon_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125496665T>C	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.2T>C	11.37:g.125496665T>C	ENSP00000435371:p.Met1Thr		OREG0021478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1542	CHEK1_uc010sbh.1_Missense_Mutation_p.W92R|CHEK1_uc010sbi.1_Missense_Mutation_p.M1T|CHEK1_uc001qcf.3_Missense_Mutation_p.M1T|CHEK1_uc009zbp.2_Missense_Mutation_p.M1T|CHEK1_uc001qcg.3_Missense_Mutation_p.M1T|CHEK1_uc009zbq.2_Missense_Mutation_p.M1T|CHEK1_uc001qci.1_RNA	p.M1T	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	2	894	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	1					A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.2T>C	CCDS8459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.521622|4.521622	0.85600|0.85600	.|.	.|.	ENSG00000149554|ENSG00000149554	ENST00000438015;ENST00000525396;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534685;ENST00000533778;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916|ENST00000427383	T;T;T;T;T;T;T;T;T;T;T|T	0.73363|0.65549	-0.68;0.71;-0.68;-0.66;-0.74;-0.59;0.59;-0.68;-0.68;-0.18;-0.67|-0.16	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.082713|.	0.85682|.	D|.	0.000000|.	T|T	0.71375|0.71375	0.3332|0.3332	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|D	0.89917|0.76494	1.0;0.999;0.999|0.999	D;D;D|D	0.83275|0.85130	0.996;0.991;0.991|0.997	T|T	0.66264|0.66264	-0.5967|-0.5967	9|8	0.87932|0.08837	D|T	0|0.75	.|.	15.4033|15.4033	0.74858|0.74858	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1;1;1|92	F5H7S4;B5BTY6;O14757|E7EPP6	.;.;CHK1_HUMAN|.	T|R	1|92	ENSP00000388648:M1T;ENSP00000434141:M1T;ENSP00000412504:M1T;ENSP00000442317:M1T;ENSP00000431525:M1T;ENSP00000431815:M1T;ENSP00000432470:M1T;ENSP00000435371:M1T;ENSP00000432890:M1T;ENSP00000434646:M1T;ENSP00000278916:M1T|ENSP00000391090:W92R	ENSP00000278916:M1T|ENSP00000391090:W92R	M|W	+|+	2|1	0|0	CHEK1|CHEK1	125001875|125001875	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	6.828000|6.828000	0.75308|0.75308	2.123000|2.123000	0.65237|0.65237	0.397000|0.397000	0.26171|0.26171	ATG|TGG		PASS	0.532	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	Missense_Mutation	64	82	64	82	---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	275002	275002	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:275002G>A	ENST00000538872.1	+	11	3035	c.2917G>A	c.(2917-2919)Gac>Aac	p.D973N	RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.D973N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D670N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	973	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D670N(1)|p.D973N(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTTCGTGGAGGACCTGAAGGA	0.597																																						uc001qhw.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2008-2010)GAC>AAC		IQ motif and Sec7 domain 3							80.0	76.0	77.0					12																	275002		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:275002G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2917G>A	12.37:g.275002G>A	ENSP00000437554:p.Asp973Asn					IQSEC3_uc001qhu.1_Missense_Mutation_p.D670N	p.D670N	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	8	2014	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		973			Potential.|PH.		A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2008G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	36	5.672272	0.96754	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.52057	0.68;0.68;0.68	5.3	5.3	0.74995	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.046020	0.85682	D	0.000000	T	0.70430	0.3223	M	0.74647	2.275	0.80722	D	1	D;D	0.71674	0.986;0.998	D;D	0.80764	0.959;0.994	T	0.73547	-0.3948	10	0.87932	D	0	.	19.3235	0.94252	0.0:0.0:1.0:0.0	.	973;670	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	N	973;973;670	ENSP00000437554:D973N;ENSP00000315662:D973N;ENSP00000372292:D670N	ENSP00000315662:D973N	D	+	1	0	IQSEC3	145263	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.805000	0.99149	2.636000	0.89361	0.585000	0.79938	GAC		PASS	0.597	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	36	3	36	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	347143	347143	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:347143G>C	ENST00000343164.4	-	5	564	c.512C>G	c.(511-513)tCc>tGc	p.S171C	SLC6A13_ENST00000445055.2_Missense_Mutation_p.S79C	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	171					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.S171C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACCATTCAGGGAGCCGTTGGT	0.517																																						uc001qic.1																			1	Substitution - Missense(1)		lung(1)		0						c.(511-513)TCC>TGC		solute carrier family 6 (neurotransmitter							167.0	143.0	151.0					12																	347143		2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:347143G>C	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.512C>G	12.37:g.347143G>C	ENSP00000339260:p.Ser171Cys					SLC6A13_uc009zdj.1_Missense_Mutation_p.S171C|SLC6A13_uc010sdl.1_Missense_Mutation_p.S79C|SLC6A13_uc010sdm.1_Missense_Mutation_p.S52C	p.S171C	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		5	565	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		171			Extracellular (Potential).		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.512C>G	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099200	0.37048	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.75050	-0.65;-0.9;-0.65	5.23	5.23	0.72850	.	0.351400	0.33854	N	0.004496	T	0.77391	0.4123	N	0.20610	0.595	0.54753	D	0.999984	D;B;B	0.58970	0.984;0.065;0.038	D;B;B	0.64687	0.928;0.229;0.153	T	0.78206	-0.2294	10	0.42905	T	0.14	.	19.1591	0.93524	0.0:0.0:1.0:0.0	.	79;150;171	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	C	79;150;171;79	ENSP00000407104:S79C;ENSP00000339260:S171C;ENSP00000444606:S79C	ENSP00000318097:S150C	S	-	2	0	SLC6A13	217404	1.000000	0.71417	0.998000	0.56505	0.146000	0.21551	5.235000	0.65348	2.596000	0.87737	0.561000	0.74099	TCC		PASS	0.517	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		18	109	18	109	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7640453	7640453	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:7640453C>T	ENST00000359156.4	-	7	1853	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	CD163_ENST00000432237.2_Missense_Mutation_p.E551K|CD163_ENST00000541972.1_Missense_Mutation_p.E539K|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000396620.3_Missense_Mutation_p.E551K	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	551	SRCR 5. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.E551K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AGATGGGACTCATGTCCCTCA	0.522																																						uc001qsz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(1651-1653)GAG>AAG		CD163 antigen isoform a							109.0	98.0	102.0					12																	7640453		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7640453C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.1651G>A	12.37:g.7640453C>T	ENSP00000352071:p.Glu551Lys					CD163_uc001qta.3_Missense_Mutation_p.E551K|CD163_uc009zfw.2_Missense_Mutation_p.E551K	p.E551K	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			7	1779	-			551			SRCR 5.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.1651G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422649	0.83559	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.33	5.33	0.75918	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.79713	0.4493	H	0.96720	3.87	0.53688	D	0.999972	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86430	0.1760	10	0.87932	D	0	.	16.8765	0.86053	0.0:1.0:0.0:0.0	.	551;551;551	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	K	551;539;551;551	ENSP00000352071:E551K;ENSP00000444071:E539K;ENSP00000379863:E551K;ENSP00000403885:E551K	ENSP00000352071:E551K	E	-	1	0	CD163	7531720	1.000000	0.71417	0.959000	0.39883	0.470000	0.32858	7.594000	0.82698	2.663000	0.90544	0.655000	0.94253	GAG		PASS	0.522	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		64	23	64	23	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15702086	15702087	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:15702086_15702087CC>AA	ENST00000281171.4	+	14	2693_2694	c.2363_2364CC>AA	c.(2362-2364)gCC>gAA	p.A788E	PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000544244.1_5'UTR|PTPRO_ENST00000348962.2_Missense_Mutation_p.A788E|PTPRO_ENST00000445537.2_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	788	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.A788E(1)|p.A788D(1)|p.A788A(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTGCCACTGCCTACAATTGTA	0.431																																						uc001rcv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2362-2364)GCC>GAC|c.(2362-2364)GCC>GCA		receptor-type protein tyrosine phosphatase O																																				SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15702086C>A|g.chr12:15702087C>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	Exception_encountered	12.37:g.15702086_15702087delinsAA	ENSP00000281171:p.Ala788Glu					PTPRO_uc001rcw.1_Missense_Mutation_p.A788D|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR|PTPRO_uc001rcw.1_Silent_p.A788A|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR	p.A788D|p.A788A	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			14	2537|2538	+		Hepatocellular(102;0.244)	788			Fibronectin type-III 8.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation|Silent	SNP	ENST00000281171.4	37	c.2363C>A|c.2364C>A	CCDS8675.1																																																																																				PASS	0.431	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			136|139	19	136	19	---	---	---	---
CCDC91	55297	broad.mit.edu	37	12	28544295	28544295	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:28544295C>T	ENST00000545336.1	+	11	1132	c.713C>T	c.(712-714)tCt>tTt	p.S238F	CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208F|CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238F			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S238F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368																																						uc001riq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(712-714)TCT>TTT		GGA binding partner							92.0	90.0	91.0					12																	28544295		2203	4300	6503	SO:0001583	missense	55297				protein transport	Golgi apparatus|membrane		g.chr12:28544295C>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.713C>T	12.37:g.28544295C>T	ENSP00000438040:p.Ser238Phe					CCDC91_uc001rio.2_Missense_Mutation_p.S208F|CCDC91_uc009zjk.2_RNA|CCDC91_uc001rip.1_Missense_Mutation_p.S238F|CCDC91_uc001rir.2_Missense_Mutation_p.S76F|CCDC91_uc009zjl.2_Intron	p.S238F	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN			7	729	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)		238			Homodimerization.		B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	c.713C>T	CCDS8716.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118710	0.37436	.	.	ENSG00000123106	ENST00000540794;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000306172	T;T;T;T;T;T	0.55234	0.53;1.42;1.42;1.42;1.42;1.41	5.16	4.26	0.50523	.	0.359356	0.22352	N	0.061199	T	0.34221	0.0890	N	0.19112	0.55	0.27871	N	0.940021	P;P	0.35656	0.514;0.514	B;B	0.34138	0.176;0.176	T	0.27502	-1.0072	10	0.56958	D	0.05	.	7.0445	0.25038	0.0:0.7255:0.1778:0.0967	.	238;208	Q7Z6B0;Q7Z6B0-2	CCD91_HUMAN;.	F	34;238;238;238;238;208	ENSP00000441714:S34F;ENSP00000445660:S238F;ENSP00000438040:S238F;ENSP00000442544:S238F;ENSP00000370658:S238F;ENSP00000305075:S208F	ENSP00000305075:S208F	S	+	2	0	CCDC91	28435562	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	2.460000	0.45031	1.287000	0.44583	0.650000	0.86243	TCT		PASS	0.368	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318		10	42	10	42	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40041652	40041652	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:40041652G>A	ENST00000324616.5	+	6	597	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	C12orf40_ENST00000398716.1_Missense_Mutation_p.C71Y|C12orf40_ENST00000405531.3_Missense_Mutation_p.C148Y	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	148								p.C148Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATAGAGAACTGCAGTTTCACT	0.348																																						uc001rmc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(442-444)TGC>TAC		hypothetical protein LOC283461							90.0	87.0	88.0					12																	40041652		1849	4095	5944	SO:0001583	missense	283461							g.chr12:40041652G>A	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.443G>A	12.37:g.40041652G>A	ENSP00000317671:p.Cys148Tyr					C12orf40_uc009zjv.1_RNA	p.C148Y	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN			6	610	+			148					B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	c.443G>A	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.437995	0.00180	.	.	ENSG00000180116	ENST00000405531;ENST00000398716;ENST00000324616	T;T	0.52754	0.65;0.66	3.86	-2.46	0.06461	.	0.483231	0.17733	N	0.163814	T	0.21145	0.0509	N	0.14661	0.345	0.09310	N	0.999998	B	0.02656	0.0	B	0.09377	0.004	T	0.11991	-1.0565	10	0.20046	T	0.44	.	4.2686	0.10775	0.5029:0.0:0.3307:0.1664	.	148	Q86WS4	CL040_HUMAN	Y	148;71;148	ENSP00000383897:C148Y;ENSP00000317671:C148Y	ENSP00000317671:C148Y	C	+	2	0	C12orf40	38327919	0.013000	0.17824	0.063000	0.19743	0.044000	0.14063	-0.257000	0.08745	-0.567000	0.06046	-1.028000	0.02416	TGC		PASS	0.348	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		36	4	36	4	---	---	---	---
TMEM106C	79022	broad.mit.edu	37	12	48358089	48358089	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:48358089G>T	ENST00000429772.2	+	2	183	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	TMEM106C_ENST00000256686.6_Missense_Mutation_p.G24C|TMEM106C_ENST00000449758.2_Missense_Mutation_p.G24C|TMEM106C_ENST00000552561.1_Missense_Mutation_p.G24C|TMEM106C_ENST00000552546.1_Missense_Mutation_p.G24C|TMEM106C_ENST00000550552.1_Missense_Mutation_p.G24C|TMEM106C_ENST00000549288.1_Missense_Mutation_p.G24C	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	24						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G24C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		TGACAGGGACGGTTTGCTGGC	0.567																																						uc001rqp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)GGT>TGT		transmembrane protein 106C isoform a							65.0	60.0	62.0					12																	48358089		2203	4300	6503	SO:0001583	missense	79022					endoplasmic reticulum membrane|integral to membrane		g.chr12:48358089G>T	BC000854	CCDS8758.1, CCDS44867.1	12q13.1	2005-12-19				ENSG00000134291			28775	protein-coding gene	gene with protein product							Standard	NM_024056		Approved	MGC5576	uc001rqr.3	Q9BVX2	OTTHUMG00000169892	ENST00000429772.2:c.70G>T	12.37:g.48358089G>T	ENSP00000400471:p.Gly24Cys					TMEM106C_uc001rqo.2_Missense_Mutation_p.G24C|TMEM106C_uc001rqr.2_Missense_Mutation_p.G24C|TMEM106C_uc001rqq.2_Missense_Mutation_p.G24C	p.G24C	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN		GBM - Glioblastoma multiforme(48;0.241)	2	185	+		Acute lymphoblastic leukemia(13;0.11)	24					B2R998|B7Z5M4|Q3B761	Missense_Mutation	SNP	ENST00000429772.2	37	c.70G>T	CCDS8758.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058008	0.36277	.	.	ENSG00000134291	ENST00000256686;ENST00000549288;ENST00000552561;ENST00000552546;ENST00000550552;ENST00000429772;ENST00000449758;ENST00000548640	T;T;T;T;T;T;T;T	0.31769	1.96;1.96;1.96;1.87;1.96;1.96;1.96;1.48	4.11	4.11	0.48088	.	0.820553	0.10891	N	0.622753	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	B;B	0.24533	0.105;0.085	B;B	0.19946	0.027;0.016	T	0.21245	-1.0251	10	0.66056	D	0.02	-5.6963	16.1519	0.81629	0.0:0.0:1.0:0.0	.	24;24	Q9BVX2;Q9BVX2-2	T106C_HUMAN;.	C	24	ENSP00000256686:G24C;ENSP00000447524:G24C;ENSP00000446657:G24C;ENSP00000448268:G24C;ENSP00000449737:G24C;ENSP00000400471:G24C;ENSP00000402705:G24C;ENSP00000447254:G24C	ENSP00000256686:G24C	G	+	1	0	TMEM106C	46644356	0.948000	0.32251	0.007000	0.13788	0.210000	0.24377	3.416000	0.52707	2.578000	0.87016	0.655000	0.94253	GGT		PASS	0.567	TMEM106C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406452.1	NM_024056		13	21	13	21	---	---	---	---
XRCC6BP1	91419	broad.mit.edu	37	12	58347452	58347452	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:58347452G>C	ENST00000300145.3	+	5	642	c.517G>C	c.(517-519)Gga>Cga	p.G173R	XRCC6BP1_ENST00000546709.1_3'UTR	NM_033276.2	NP_150592.1	Q9Y6H3	ATP23_HUMAN	XRCC6 binding protein 1	173					double-strand break repair via nonhomologous end joining (GO:0006303)|protein phosphorylation (GO:0006468)	DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)	DNA-dependent protein kinase activity (GO:0004677)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G173R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GTTACATTTTGGATTAAAACA	0.348																																						uc001sqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(517-519)GGA>CGA		XRCC6 binding protein 1							133.0	116.0	122.0					12																	58347452		1835	4106	5941	SO:0001583	missense	91419				double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity	g.chr12:58347452G>C	AF078164	CCDS41802.1	12q14.1	2006-01-09				ENSG00000166896			29452	protein-coding gene	gene with protein product	"""Ku70 binding protein 3"""					10219089	Standard	XM_005269223		Approved	KUB3	uc001sqp.3	Q9Y6H3	OTTHUMG00000170493	ENST00000300145.3:c.517G>C	12.37:g.58347452G>C	ENSP00000300145:p.Gly173Arg						p.G173R	NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN			5	557	+			173					Q1RLM4|Q96E81	Missense_Mutation	SNP	ENST00000300145.3	37	c.517G>C	CCDS41802.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392975	0.62066	.	.	ENSG00000166896	ENST00000300145	T	0.45668	0.89	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	L	0.53671	1.685	0.80722	D	1	D	0.71674	0.998	D	0.63283	0.913	T	0.50659	-0.8802	10	0.27785	T	0.31	.	19.149	0.93481	0.0:0.0:1.0:0.0	.	173	Q9Y6H3	ATP23_HUMAN	R	173	ENSP00000300145:G173R	ENSP00000300145:G173R	G	+	1	0	XRCC6BP1	56633719	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	9.222000	0.95196	2.591000	0.87537	0.655000	0.94253	GGA		PASS	0.348	XRCC6BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409390.1	NM_033276		41	8	41	8	---	---	---	---
CPM	1368	broad.mit.edu	37	12	69250352	69250352	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:69250352T>C	ENST00000551568.1	-	9	1257	c.1197A>G	c.(1195-1197)caA>caG	p.Q399Q	CPM_ENST00000338356.3_Silent_p.Q399Q|CPM_ENST00000546373.1_Silent_p.Q399Q	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	399					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q399Q(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TAGAATCCAATTGCCCTTGGA	0.413																																						uc001sup.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1195-1197)CAA>CAG		carboxypeptidase M precursor							117.0	118.0	118.0					12																	69250352		2203	4300	6503	SO:0001819	synonymous_variant	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69250352T>C	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.1197A>G	12.37:g.69250352T>C						CPM_uc001sur.2_Silent_p.Q399Q|CPM_uc001suq.2_Silent_p.Q399Q	p.Q399Q	NM_198320	NP_938079	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		9	1258	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		399					B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	c.1197A>G	CCDS8987.1																																																																																				PASS	0.413	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		63	4	63	4	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71955575	71955575	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr12:71955575A>G	ENST00000266674.5	+	8	1111	c.800A>G	c.(799-801)aAc>aGc	p.N267S	LGR5_ENST00000536515.1_Missense_Mutation_p.N195S|LGR5_ENST00000540815.2_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	267					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.N267S(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTTCATAGCAACAATATCAGG	0.368																																						uc001swl.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(799-801)AAC>AGC		leucine-rich repeat-containing G protein-coupled							73.0	64.0	67.0					12																	71955575		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71955575A>G	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.800A>G	12.37:g.71955575A>G	ENSP00000266674:p.Asn267Ser					LGR5_uc001swm.2_Intron|LGR5_uc001swn.1_RNA	p.N267S	NM_003667	NP_003658	O75473	LGR5_HUMAN			8	848	+			267			LRR 9.|Extracellular (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.800A>G	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744198	0.89663	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515	T;T	0.72615	5.02;-0.67	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.88142	0.6357	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90695	0.4616	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	267	O75473	LGR5_HUMAN	S	267;267;195	ENSP00000266674:N267S;ENSP00000443033:N195S	ENSP00000266674:N267S	N	+	2	0	LGR5	70241842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.109000	0.94291	2.367000	0.80283	0.528000	0.53228	AAC		PASS	0.368	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		6	18	6	18	---	---	---	---
KL	9365	broad.mit.edu	37	13	33628177	33628177	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr13:33628177G>A	ENST00000380099.3	+	2	1101	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.D58N	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	365	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)	p.D365N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGAACTGCTGACTTTTTTGC	0.413																																						uc001uus.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1093-1095)GAC>AAC		klotho precursor							177.0	183.0	181.0					13																	33628177		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628177G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1093G>A	13.37:g.33628177G>A	ENSP00000369442:p.Asp365Asn					KL_uc001uur.1_Missense_Mutation_p.D58N	p.D365N	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1101	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	365			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1093G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980524	0.92982	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.62498	0.77;0.02	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91164	0.4963	10	0.87932	D	0	-48.6092	20.2822	0.98520	0.0:0.0:1.0:0.0	.	365;58	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	N	58;365	ENSP00000399513:D58N;ENSP00000369442:D365N	ENSP00000369442:D365N	D	+	1	0	KL	32526177	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	9.710000	0.98732	2.806000	0.96561	0.655000	0.94253	GAC		PASS	0.413	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			200	26	200	26	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61985741	61985741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr13:61985741C>A	ENST00000409186.1	-	5	4596	c.2491G>T	c.(2491-2493)Gag>Tag	p.E831*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.E831*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	831	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)|poly(A) RNA binding (GO:0044822)	p.E831*(1)|p.E804*(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGAGAGGCTCGGGATAACCA	0.428																																						uc001vid.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2491-2493)GAG>TAG		protocadherin 20							122.0	116.0	118.0					13																	61985741		2203	4300	6503	SO:0001587	stop_gained	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985741C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2491G>T	13.37:g.61985741C>A	ENSP00000386653:p.Glu831*					PCDH20_uc010thj.1_Nonsense_Mutation_p.E831*	p.E831*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2855	-		Breast(118;0.195)|Prostate(109;0.229)	804			Cadherin 6.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Nonsense_Mutation	SNP	ENST00000409186.1	37	c.2491G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	42	9.320077	0.99135	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	.	.	.	X	831;831;577	.	ENSP00000351500:E577X	E	-	1	0	PCDH20	60883742	1.000000	0.71417	0.958000	0.39756	0.876000	0.50452	7.745000	0.85046	2.770000	0.95276	0.655000	0.94253	GAG		PASS	0.428	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		90	9	90	9	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20249350	20249350	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr14:20249350C>A	ENST00000315957.4	+	1	950	c.869C>A	c.(868-870)aCa>aAa	p.T290K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T290K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTATTTACACATTGAGAAAC	0.343																																						uc010tku.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)ACA>AAA		olfactory receptor, family 4, subfamily M,							87.0	88.0	87.0					14																	20249350		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249350C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.869C>A	14.37:g.20249350C>A	ENSP00000319654:p.Thr290Lys						p.T290K	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	869	+	all_cancers(95;0.00108)		290			Helical; Name=7; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.869C>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	12.30	1.896768	0.33535	.	.	ENSG00000176299	ENST00000315957	T	0.38560	1.13	4.42	4.42	0.53409	.	0.000000	0.51477	D	0.000095	T	0.51126	0.1656	M	0.91354	3.2	0.32148	N	0.584571	P	0.47409	0.895	B	0.41236	0.351	T	0.72171	-0.4371	10	0.87932	D	0	-9.0682	10.7277	0.46079	0.0:0.8067:0.1932:0.0	.	290	Q8NGD0	OR4M1_HUMAN	K	290	ENSP00000319654:T290K	ENSP00000319654:T290K	T	+	2	0	OR4M1	19319190	0.003000	0.15002	0.958000	0.39756	0.320000	0.28249	0.734000	0.26101	2.468000	0.83385	0.506000	0.49869	ACA		PASS	0.343	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			35	80	35	80	---	---	---	---
OR4K5	79317	broad.mit.edu	37	14	20389688	20389688	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr14:20389688C>A	ENST00000315915.4	+	1	948	c.923C>A	c.(922-924)cCa>cAa	p.P308Q		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P308Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACCTGAGGCCAAGGAGAATT	0.373																																						uc010tkw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(922-924)CCA>CAA		olfactory receptor, family 4, subfamily K,							89.0	101.0	97.0					14																	20389688		2203	4299	6502	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389688C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.923C>A	14.37:g.20389688C>A	ENSP00000319511:p.Pro308Gln						p.P308Q	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	923	+	all_cancers(95;0.00108)		308			Cytoplasmic (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.923C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	0.208	-1.039063	0.02013	.	.	ENSG00000176281	ENST00000315915	T	0.37235	1.21	3.99	3.09	0.35607	.	0.632412	0.13767	N	0.364127	T	0.23688	0.0573	L	0.34521	1.04	0.09310	N	1	B	0.33212	0.402	B	0.33392	0.163	T	0.13710	-1.0499	10	0.29301	T	0.29	.	4.649	0.12585	0.2158:0.6693:0.0:0.1149	.	308	Q8NGD3	OR4K5_HUMAN	Q	308	ENSP00000319511:P308Q	ENSP00000319511:P308Q	P	+	2	0	OR4K5	19459528	0.019000	0.18553	0.002000	0.10522	0.110000	0.19582	3.111000	0.50360	0.873000	0.35799	0.650000	0.86243	CCA		PASS	0.373	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		54	140	54	140	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60069840	60069840	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr14:60069840G>T	ENST00000267484.5	-	8	2566	c.2231C>A	c.(2230-2232)gCa>gAa	p.A744E	RTN1_ENST00000395090.1_Splice_Site_p.A161E|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Splice_Site_p.A176E	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	744	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.A744E(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTCAATCTGTGCCTACATAAA	0.363																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2230-2232)GCA>GAA		reticulon 1 isoform A							102.0	91.0	95.0					14																	60069840		2203	4300	6503	SO:0001630	splice_region_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069840G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2230-1C>A	14.37:g.60069840G>T						RTN1_uc001xem.1_Missense_Mutation_p.A324E|RTN1_uc001xek.1_Missense_Mutation_p.A176E|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Missense_Mutation_p.A161E	p.A744E	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	8	2440	-			744			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.2231C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463395	0.63513	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000395090;ENST00000342503;ENST00000433623	T;T;T	0.37752	1.18;1.18;1.18	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	L	0.33753	1.03	0.80722	D	1	B;D;B	0.56746	0.022;0.977;0.039	B;D;B	0.66084	0.071;0.941;0.099	T	0.49661	-0.8916	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	161;744;176	A8MT72;Q16799;Q16799-3	.;RTN1_HUMAN;.	E	324;744;161;176;670	ENSP00000267484:A744E;ENSP00000378525:A161E;ENSP00000340716:A176E	ENSP00000267484:A744E	A	-	2	0	RTN1	59139593	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.863000	0.87023	2.861000	0.98227	0.655000	0.94253	GCA		PASS	0.363	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		Missense_Mutation	26	28	26	28	---	---	---	---
RHOJ	57381	broad.mit.edu	37	14	63757659	63757659	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr14:63757659G>C	ENST00000316754.3	+	5	1024	c.562G>C	c.(562-564)Gat>Cat	p.D188H		NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	188					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D188H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		AGCGGTTTTTGATGAAGCAAT	0.443																																						uc001xgb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(562-564)GAT>CAT		ras homolog gene family, member J precursor							130.0	128.0	129.0					14																	63757659		2203	4300	6503	SO:0001583	missense	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63757659G>C	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.562G>C	14.37:g.63757659G>C	ENSP00000316729:p.Asp188His						p.D188H	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	5	1005	+			188					Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	c.562G>C	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084586	0.94100	.	.	ENSG00000126785	ENST00000316754	T	0.70749	-0.51	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85271	0.1056	10	0.87932	D	0	.	19.9017	0.96988	0.0:0.0:1.0:0.0	.	188	Q9H4E5	RHOJ_HUMAN	H	188	ENSP00000316729:D188H	ENSP00000316729:D188H	D	+	1	0	RHOJ	62827412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.824000	0.99380	2.707000	0.92482	0.561000	0.74099	GAT		PASS	0.443	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			88	75	88	75	---	---	---	---
CLMN	79789	broad.mit.edu	37	14	95690189	95690189	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr14:95690189T>G	ENST00000298912.4	-	3	261	c.148A>C	c.(148-150)Aac>Cac	p.N50H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	50	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.N50H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAGGTGGGTTGCACTTTGAA	0.418																																						uc001yef.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)AAC>CAC		calmin							79.0	80.0	80.0					14																	95690189		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95690189T>G	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.148A>C	14.37:g.95690189T>G	ENSP00000298912:p.Asn50His						p.N50H	NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	3	264	-			50			Actin-binding.|CH 1.		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.148A>C	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.318727	0.60524	.	.	ENSG00000165959	ENST00000298912	T	0.59906	0.23	4.97	-1.13	0.09775	Calponin homology domain (5);	0.827002	0.10332	N	0.687391	T	0.66548	0.2800	L	0.58354	1.805	0.80722	D	1	D	0.67145	0.996	D	0.63381	0.914	T	0.65533	-0.6145	10	0.66056	D	0.02	.	9.7019	0.40192	0.0:0.2064:0.0:0.7936	.	50	Q96JQ2	CLMN_HUMAN	H	50	ENSP00000298912:N50H	ENSP00000298912:N50H	N	-	1	0	CLMN	94759942	0.972000	0.33761	0.987000	0.45799	0.887000	0.51463	0.166000	0.16583	-0.391000	0.07763	0.459000	0.35465	AAC		PASS	0.418	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			16	36	16	36	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30029502	30029502	+	Missense_Mutation	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:30029502T>A	ENST00000346128.6	-	11	1847	c.1373A>T	c.(1372-1374)aAg>aTg	p.K458M	TJP1_ENST00000545208.2_Missense_Mutation_p.K458M|TJP1_ENST00000400011.2_Missense_Mutation_p.K462M|TJP1_ENST00000356107.6_Missense_Mutation_p.K458M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	458	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.K458M(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TAAGCCTTCCTTGGCTGCAGG	0.418																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(1372-1374)AAG>ATG		tight junction protein 1 isoform a							159.0	146.0	150.0					15																	30029502		1903	4129	6032	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30029502T>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.1373A>T	15.37:g.30029502T>A	ENSP00000281537:p.Lys458Met					TJP1_uc010azl.2_Missense_Mutation_p.K446M|TJP1_uc001zcq.2_Missense_Mutation_p.K462M|TJP1_uc001zcs.2_Missense_Mutation_p.K458M	p.K458M	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	11	1848	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	458			PDZ 3.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.1373A>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.770863	0.90108	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.62	5.62	0.85841	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.989;0.992;0.988	T	0.50642	-0.8804	9	.	.	.	.	15.8167	0.78608	0.0:0.0:0.0:1.0	.	451;458;458;462	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	M	458;462;458;458;458	ENSP00000281537:K458M;ENSP00000382890:K462M;ENSP00000441202:K458M;ENSP00000348416:K458M	.	K	-	2	0	TJP1	27816794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.126000	0.65437	0.533000	0.62120	AAG		PASS	0.418	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		59	70	59	70	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33961618	33961619	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:33961618_33961619GA>TG	ENST00000389232.4	+	37	5753_5754	c.5683_5684GA>TG	c.(5683-5685)GAg>TGg	p.E1895W	RYR3_ENST00000415757.3_Missense_Mutation_p.E1895W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1895	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E1895W(1)|p.E1895*(1)|p.E1895G(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)		GATTCGGGAGGAGCTGTATGAT	0.455																																						uc001zhi.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5683-5685)GAG>TAG|c.(5683-5685)GAG>GGG		ryanodine receptor 3																																				SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33961618G>T|g.chr15:33961619A>G		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		Exception_encountered	15.37:g.33961618_33961619delinsTG	ENSP00000373884:p.Glu1895Trp					RYR3_uc010bar.2_Nonsense_Mutation_p.E1895*|RYR3_uc010bar.2_Missense_Mutation_p.E1895G	p.E1895*|p.E1895G	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)	37	5753|5754	+		all_lung(180;7.18e-09)	1895			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000389232.4	37	c.5683G>T|c.5684A>G	CCDS45210.1																																																																																				PASS	0.455	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			33|35	47|46	33	46	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33999173	33999173	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:33999173C>T	ENST00000389232.4	+	43	6607	c.6537C>T	c.(6535-6537)gcC>gcT	p.A2179A	RYR3_ENST00000415757.3_Silent_p.A2179A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2179	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A2179A(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)		TGCTTCTGGCCAAAGGATACC	0.532																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6535-6537)GCC>GCT		ryanodine receptor 3							76.0	86.0	82.0					15																	33999173		2174	4285	6459	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33999173C>T		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.6537C>T	15.37:g.33999173C>T						RYR3_uc010bar.2_Silent_p.A2179A	p.A2179A	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)	43	6607	+		all_lung(180;7.18e-09)	2179			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.6537C>T	CCDS45210.1																																																																																				PASS	0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	17	19	17	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63029096	63029096	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:63029096G>T	ENST00000561311.1	+	28	3608	c.3378G>T	c.(3376-3378)acG>acT	p.T1126T	TLN2_ENST00000559908.1_3'UTR|TLN2_ENST00000306829.6_Silent_p.T1126T			Q9Y4G6	TLN2_HUMAN	talin 2	1126	Ala-rich.				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.T1126T(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						CTAGAGAGACGGCCCAAGCTC	0.552																																						uc002alb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(3376-3378)ACG>ACT		talin 2							33.0	37.0	36.0					15																	63029096		2203	4300	6503	SO:0001819	synonymous_variant	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.chr15:63029096G>T	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.3378G>T	15.37:g.63029096G>T							p.T1126T	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			26	3378	+			1126			Ala-rich.		A6NLB8	Silent	SNP	ENST00000561311.1	37	c.3378G>T	CCDS32261.1																																																																																				PASS	0.552	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			14	26	14	26	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64048842	64048842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:64048842G>A	ENST00000443617.2	-	5	1414	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	443					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q443*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAAGTTGACTGATTATTGGAG	0.433																																						uc002amp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(1327-1329)CAG>TAG		hect domain and RCC1-like domain 1							38.0	37.0	37.0					15																	64048842		1874	4106	5980	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64048842G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1327C>T	15.37:g.64048842G>A	ENSP00000390158:p.Gln443*					HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Nonsense_Mutation_p.Q443*	p.Q443*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			5	1475	-			443			WD 1.|RCC1 2.		Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.1327C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	37	6.477888	0.97598	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.24	5.24	0.73138	.	0.165528	0.41001	U	0.000972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	.	.	.	X	443	.	ENSP00000390158:Q443X	Q	-	1	0	HERC1	61835895	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.779000	0.99018	2.611000	0.88343	0.561000	0.74099	CAG		PASS	0.433	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		12	19	12	19	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64791889	64791889	+	Nonsense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:64791889A>T	ENST00000326648.3	+	1	399	c.271A>T	c.(271-273)Aaa>Taa	p.K91*	ZNF609_ENST00000416172.1_Nonsense_Mutation_p.K91*	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	91						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K91*(3)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCAAAATCCAAAAGGAGTAA	0.542																																						uc002ann.2																			3	Substitution - Nonsense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(271-273)AAA>TAA		zinc finger protein 609							93.0	85.0	88.0					15																	64791889		2203	4300	6503	SO:0001587	stop_gained	23060					nucleus	zinc ion binding	g.chr15:64791889A>T	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.271A>T	15.37:g.64791889A>T	ENSP00000316527:p.Lys91*					ZNF609_uc010bgy.2_Nonsense_Mutation_p.K91*	p.K91*	NM_015042	NP_055857	O15014	ZN609_HUMAN			1	271	+			91					Q0D2I2	Nonsense_Mutation	SNP	ENST00000326648.3	37	c.271A>T	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	.	37	6.086659	0.97271	.	.	ENSG00000180357	ENST00000416172;ENST00000326648	.	.	.	5.5	5.5	0.81552	.	0.051068	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.5905	15.9023	0.79387	1.0:0.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000316527:K91X	K	+	1	0	ZNF609	62578942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.274000	0.95731	2.217000	0.71921	0.529000	0.55759	AAA		PASS	0.542	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		51	58	51	58	---	---	---	---
PKM	5315	broad.mit.edu	37	15	72492913	72492913	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:72492913T>C	ENST00000335181.5	-	10	1494	c.1391A>G	c.(1390-1392)cAc>cGc	p.H464R	PKM_ENST00000565184.1_Missense_Mutation_p.H464R|PKM_ENST00000389093.3_Missense_Mutation_p.H464R|PKM_ENST00000449901.2_Missense_Mutation_p.H449R|PKM_ENST00000568459.1_Missense_Mutation_p.H464R|GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000319622.6_Missense_Mutation_p.H464R|PKM_ENST00000568883.1_Missense_Mutation_p.H299R|PKM_ENST00000565154.1_Missense_Mutation_p.H464R	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	464	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.H464R(2)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	ACGGTACAGGTGGGCCTGACG	0.622																																						uc002atx.1																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1390-1392)CAC>CGC		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						71.0	69.0	69.0					15																	72492913		2199	4297	6496	SO:0001583	missense	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72492913T>C	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1391A>G	15.37:g.72492913T>C	ENSP00000334983:p.His464Arg					GRAMD2_uc002atq.2_5'Flank|GRAMD2_uc010bis.2_5'Flank|PKM2_uc002atr.1_5'UTR|PKM2_uc002ats.1_Missense_Mutation_p.H131R|PKM2_uc002att.1_Missense_Mutation_p.H230R|PKM2_uc002atu.1_Missense_Mutation_p.H230R|PKM2_uc010bit.1_Missense_Mutation_p.H469R|PKM2_uc010uki.1_Missense_Mutation_p.H538R|PKM2_uc002atv.1_Missense_Mutation_p.H499R|PKM2_uc002atw.1_Missense_Mutation_p.H464R|PKM2_uc002aty.1_Missense_Mutation_p.H464R|PKM2_uc010ukj.1_Missense_Mutation_p.H449R|PKM2_uc010ukk.1_Missense_Mutation_p.H390R|PKM2_uc010biu.1_Missense_Mutation_p.H485R	p.H464R	NM_182471	NP_872271	P14618	KPYM_HUMAN			10	1632	-			464			Interaction with POU5F1.		A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	ENST00000335181.5	37	c.1391A>G	CCDS32284.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762834	0.89932	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99023	-5.34;-5.34;-5.34;-5.34	5.03	5.03	0.67393	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99239	0.9735	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.999;0.999;0.997;1.0;0.997	D;D;D;D;D;D;D;D;D	0.81914	0.99;0.989;0.992;0.95;0.992;0.986;0.971;0.995;0.971	D	0.99289	1.0898	10	0.87932	D	0	-16.5484	15.0711	0.72037	0.0:0.0:0.0:1.0	.	390;449;444;444;464;464;299;391;299	B4DNK4;B4DUU6;B4DRT3;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;.;KPYM_HUMAN;.;.;.;.	R	464;464;391;299;464;449	ENSP00000320171:H464R;ENSP00000334983:H464R;ENSP00000373745:H464R;ENSP00000403365:H449R	ENSP00000320171:H464R	H	-	2	0	PKM2	70279967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.891000	0.87319	2.011000	0.59026	0.459000	0.35465	CAC		PASS	0.622	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			3	85	3	85	---	---	---	---
FBXO22	26263	broad.mit.edu	37	15	76225414	76225414	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:76225414G>T	ENST00000308275.3	+	7	1288	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	FBXO22_ENST00000540507.1_Missense_Mutation_p.A291S	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	395					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.A395S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AACAATAATGGCACTCATACA	0.343																																						uc002bbk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1183-1185)GCA>TCA		F-box only protein 22 isoform a							81.0	84.0	83.0					15																	76225414		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76225414G>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.1183G>T	15.37:g.76225414G>T	ENSP00000307833:p.Ala395Ser					FBXO22_uc002bbl.2_Missense_Mutation_p.A291S|FBXO22OS_uc002bbm.1_RNA	p.A395S	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			7	1288	+			395					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.1183G>T	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061469	0.36373	.	.	ENSG00000167196	ENST00000308275;ENST00000540507	.	.	.	5.62	3.49	0.39957	.	0.280376	0.38959	N	0.001515	T	0.29061	0.0722	N	0.12182	0.205	0.41310	D	0.987106	B	0.09022	0.002	B	0.09377	0.004	T	0.07385	-1.0775	9	0.27082	T	0.32	-10.9891	6.2899	0.21054	0.3449:0.0:0.6551:0.0	.	395	Q8NEZ5	FBX22_HUMAN	S	395;291	.	ENSP00000307833:A395S	A	+	1	0	FBXO22	74012469	1.000000	0.71417	0.813000	0.32504	0.825000	0.46686	3.828000	0.55753	1.277000	0.44412	0.655000	0.94253	GCA		PASS	0.343	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		48	55	48	55	---	---	---	---
FSD2	123722	broad.mit.edu	37	15	83455327	83455327	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:83455327T>C	ENST00000334574.8	-	3	852	c.671A>G	c.(670-672)gAa>gGa	p.E224G	FSD2_ENST00000541889.1_Missense_Mutation_p.E224G			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	224								p.E224G(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATCTGCTTTTCCAATTTGTA	0.373																																						uc002bjd.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(670-672)GAA>GGA		fibronectin type III and SPRY domain containing							150.0	131.0	137.0					15																	83455327		1855	4099	5954	SO:0001583	missense	123722							g.chr15:83455327T>C	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.671A>G	15.37:g.83455327T>C	ENSP00000335651:p.Glu224Gly					FSD2_uc010uol.1_Missense_Mutation_p.E224G|FSD2_uc010uom.1_Missense_Mutation_p.E224G	p.E224G	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			3	838	-			224			Potential.		B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.671A>G	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577926	0.86645	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.23348	1.91;1.91	5.63	5.63	0.86233	.	0.056631	0.64402	D	0.000001	T	0.47930	0.1472	M	0.64997	1.995	0.42266	D	0.992038	D;D	0.89917	0.999;1.0	D;D	0.70227	0.968;0.961	T	0.46541	-0.9184	10	0.54805	T	0.06	-25.5513	15.0511	0.71872	0.0:0.0:0.0:1.0	.	224;224	B7ZM02;A1L4K1	.;FSD2_HUMAN	G	224	ENSP00000335651:E224G;ENSP00000444078:E224G	ENSP00000335651:E224G	E	-	2	0	FSD2	81252381	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.062000	0.64326	2.145000	0.66743	0.533000	0.62120	GAA		PASS	0.373	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		11	22	11	22	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84592663	84592664	+	Nonsense_Mutation	DNP	AG	AG	TT			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:84592663_84592664AG>TT	ENST00000286744.5	+	17	2219_2220	c.1995_1996AG>TT	c.(1993-1998)caAGaa>caTTaa	p.665_666QE>H*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.665_666QE>H*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	665						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q665_E666>H*(1)|p.Q665H(1)|p.E666*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGGCCATCAAGAAGCCATAGC	0.431																																						uc002bjz.3																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - compound substitution(1)		lung(3)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1993-1995)CAA>CAT|c.(1996-1998)GAA>TAA		ADAMTS-like 3 precursor																																				SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84592663A>T|g.chr15:84592664G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	Exception_encountered	15.37:g.84592663_84592664delinsTT	ENSP00000286744:p.Q665_E666delinsH*					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.Q665H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.Q665H|ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E666*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E666*	p.Q665H|p.E666*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2219|2220	+			665|666					A1A566|A1A567|Q9ULI7	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000286744.5	37	c.1995A>T|c.1996G>T	CCDS10326.1																																																																																				PASS	0.431	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		21	38|37	21	37	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91452555	91452555	+	Splice_Site	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:91452555A>T	ENST00000559717.1	+	9	1655		c.e9-1		MAN2A2_ENST00000431652.2_Splice_Site|MAN2A2_ENST00000430376.2_5'Flank|MAN2A2_ENST00000360468.3_Splice_Site			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2						cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TTCCTGCCCCAGGGCAGCCCT	0.562																																						uc010bnz.2																			1	Unknown(1)		lung(1)	large_intestine(2)|ovary(1)	3						c.e9-2		mannosidase, alpha, class 2A, member 2							50.0	49.0	49.0					15																	91452555		2198	4298	6496	SO:0001630	splice_region_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91452555A>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1197-1A>T	15.37:g.91452555A>T						MAN2A2_uc010boa.2_Splice_Site_p.R441_splice|MAN2A2_uc002bqc.2_Splice_Site_p.R399_splice|MAN2A2_uc010uql.1_Splice_Site_p.R103_splice|MAN2A2_uc010uqm.1_Splice_Site_p.G46_splice|MAN2A2_uc010uqn.1_5'Flank	p.R399_splice	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		9	1312	+	Lung NSC(78;0.0771)|all_lung(78;0.137)							A6NH12|A8K1E8|Q13754	Splice_Site	SNP	ENST00000559717.1	37	c.1197_splice	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227475	0.58668	.	.	ENSG00000196547	ENST00000360468	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.064	0.71980	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN2A2	89253559	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	8.932000	0.92897	2.211000	0.71520	0.454000	0.30748	.		PASS	0.562	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	Intron	40	21	40	21	---	---	---	---
NARFL	64428	broad.mit.edu	37	16	789703	789703	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:789703C>T	ENST00000251588.2	-	2	118	c.102G>A	c.(100-102)gcG>gcA	p.A34A	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Silent_p.A34A|NARFL_ENST00000568545.1_5'Flank	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	34					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)	p.A34A(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CGCCACTTCCCGCCCTTTTTT	0.572																																						uc002cjr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)GCG>GCA		nuclear prelamin A recognition factor-like							202.0	177.0	185.0					16																	789703		2200	4300	6500	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:789703C>T	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.102G>A	16.37:g.789703C>T						NARFL_uc002cjp.2_5'Flank|NARFL_uc002cjq.2_5'UTR|NARFL_uc002cjs.2_5'UTR|NARFL_uc010brc.1_Silent_p.A34A|NARFL_uc010uur.1_Silent_p.A34A	p.A34A	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN			2	114	-		Hepatocellular(780;0.0218)	34					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.102G>A	CCDS10425.1																																																																																				PASS	0.572	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		11	57	11	57	---	---	---	---
SPSB3	90864	broad.mit.edu	37	16	1827785	1827785	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:1827785G>A	ENST00000566339.1	-	6	1014	c.684C>T	c.(682-684)caC>caT	p.H228H	SPSB3_ENST00000301717.4_Silent_p.H228H	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	228	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.H228H(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TGAGTGTGCCGTGCCAGGTGT	0.627																																						uc002cmr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(682-684)CAC>CAT		splA/ryanodine receptor domain and SOCS box							78.0	72.0	74.0					16																	1827785		2198	4299	6497	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1827785G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.684C>T	16.37:g.1827785G>A						SPSB3_uc002cms.2_Silent_p.H100H|SPSB3_uc002cmt.2_Silent_p.H100H|SPSB3_uc002cmu.2_Silent_p.H228H|SPSB3_uc002cmv.2_Silent_p.H100H	p.H228H	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN			5	717	-			228			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.684C>T	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	g	0.746	-0.774446	0.02951	.	.	ENSG00000162032	ENST00000360717	.	.	.	4.33	-6.7	0.01766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1154	0.59297	0.5426:0.0:0.4574:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPSB3	1767786	0.000000	0.05858	0.381000	0.26106	0.280000	0.26924	-2.808000	0.00756	-1.513000	0.01789	-0.927000	0.02713	.		PASS	0.627	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		28	23	28	23	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2816402	2816402	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:2816402C>G	ENST00000301740.8	+	11	6422	c.5873C>G	c.(5872-5874)tCc>tGc	p.S1958C		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1958	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S1958C(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCAGAAGGTCCAGATCCAGG	0.567																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5872-5874)TCC>TGC		splicing coactivator subunit SRm300							68.0	70.0	69.0					16																	2816402		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2816402C>G	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5873C>G	16.37:g.2816402C>G	ENSP00000301740:p.Ser1958Cys					SRRM2_uc002crj.1_Missense_Mutation_p.S1862C|SRRM2_uc002crl.1_Missense_Mutation_p.S1958C|SRRM2_uc010bsu.1_Missense_Mutation_p.S1862C	p.S1958C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	6422	+			1958			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.5873C>G	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.629	1.135956	0.21123	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.26223	1.75	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000012	T	0.32133	0.0819	N	0.08118	0	0.38731	D	0.953661	D	0.76494	0.999	D	0.80764	0.994	T	0.47911	-0.9080	10	0.87932	D	0	-6.7215	16.3084	0.82859	0.0:1.0:0.0:0.0	.	1958	Q9UQ35	SRRM2_HUMAN	C	1958;1958;1210	ENSP00000301740:S1958C	ENSP00000301740:S1958C	S	+	2	0	SRRM2	2756403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.305000	0.59110	2.454000	0.82982	0.650000	0.86243	TCC		PASS	0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			17	35	17	35	---	---	---	---
TNFRSF17	608	broad.mit.edu	37	16	12061466	12061466	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:12061466A>C	ENST00000053243.1	+	3	535	c.317A>C	c.(316-318)aAg>aCg	p.K106T	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.K57T|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	106					cell proliferation (GO:0008283)|immune system process (GO:0002376)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K106T(1)		large_intestine(3)|lung(3)	6						GACCTGGAAAAGAGCAGGACT	0.468			T	IL2	intestinal T-cell lymphoma																																	uc002dbv.2				Dom	yes		16	16p13.1	608	T	"""tumor necrosis factor receptor superfamily, member 17"""			L	IL2		intestinal T-cell lymphoma		1	Substitution - Missense(1)		lung(1)		0						c.(316-318)AAG>ACG		tumor necrosis factor receptor superfamily,							114.0	102.0	106.0					16																	12061466		2197	4300	6497	SO:0001583	missense	608				cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane		g.chr16:12061466A>C	Z29574	CCDS10552.1	16p13.1	2013-05-22			ENSG00000048462	ENSG00000048462		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11913	protein-coding gene	gene with protein product		109545		BCMA		1396583, 8165126	Standard	NM_001192		Approved	BCM, CD269, TNFRSF13A	uc002dbv.3	Q02223	OTTHUMG00000129826	ENST00000053243.1:c.317A>C	16.37:g.12061466A>C	ENSP00000053243:p.Lys106Thr					TNFRSF17_uc010buy.2_3'UTR|TNFRSF17_uc010buz.2_Missense_Mutation_p.K57T	p.K106T	NM_001192	NP_001183	Q02223	TNR17_HUMAN			3	535	+			106			Cytoplasmic (Potential).		Q2TQ40	Missense_Mutation	SNP	ENST00000053243.1	37	c.317A>C	CCDS10552.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842857	0.32606	.	.	ENSG00000048462	ENST00000053243;ENST00000396495	T;T	0.19105	2.83;2.17	5.31	-5.02	0.02982	.	2.711980	0.00839	N	0.001739	T	0.17109	0.0411	L	0.43152	1.355	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.16722	0.016;0.011	T	0.19745	-1.0296	10	0.31617	T	0.26	3.4651	6.6389	0.22899	0.3867:0.238:0.3754:0.0	.	57;106	Q2TQ40;Q02223	.;TNR17_HUMAN	T	106;57	ENSP00000053243:K106T;ENSP00000379753:K57T	ENSP00000053243:K106T	K	+	2	0	TNFRSF17	11968967	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.150000	0.10189	-0.920000	0.03799	0.459000	0.35465	AAG		PASS	0.468	TNFRSF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252062.1			26	122	26	122	---	---	---	---
GDE1	51573	broad.mit.edu	37	16	19522215	19522215	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:19522215C>G	ENST00000353258.3	-	3	669	c.489G>C	c.(487-489)gaG>gaC	p.E163D		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	163	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol glycerophosphodiesterase activity (GO:0047395)|metal ion binding (GO:0046872)	p.E163D(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GGTTTAGGCACTCTGCAACAG	0.373																																						uc002dgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(487-489)GAG>GAC		glycerophosphodiester phosphodiesterase 1							201.0	190.0	194.0					16																	19522215		2197	4300	6497	SO:0001583	missense	51573				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding	g.chr16:19522215C>G		CCDS10578.1	16p12-p11.2	2011-01-25			ENSG00000006007	ENSG00000006007	3.1.4.46		29644	protein-coding gene	gene with protein product	"""membrane interacting protein of RGS16"""	605943				12576545, 16472945	Standard	NM_016641		Approved	MIR16	uc002dgh.3	Q9NZC3	OTTHUMG00000131454	ENST00000353258.3:c.489G>C	16.37:g.19522215C>G	ENSP00000261386:p.Glu163Asp					GDE1_uc002dgi.2_Missense_Mutation_p.E53D	p.E163D	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN			3	653	-			163			Lumenal (Potential).|GDPD.		O43334|Q6PKF7|Q7KYR4	Missense_Mutation	SNP	ENST00000353258.3	37	c.489G>C	CCDS10578.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848362	0.71603	.	.	ENSG00000006007	ENST00000353258	T	0.11712	2.75	5.99	2.69	0.31865	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.045455	0.85682	D	0.000000	T	0.22044	0.0531	L	0.58925	1.835	0.53688	D	0.999972	D	0.59767	0.986	D	0.65573	0.936	T	0.00912	-1.1517	10	0.36615	T	0.2	-21.9757	7.9722	0.30134	0.0:0.5925:0.0:0.4075	.	163	Q9NZC3	GDE1_HUMAN	D	163	ENSP00000261386:E163D	ENSP00000261386:E163D	E	-	3	2	GDE1	19429716	0.998000	0.40836	1.000000	0.80357	0.847000	0.48162	0.406000	0.21032	0.867000	0.35654	0.591000	0.81541	GAG		PASS	0.373	GDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254274.2	NM_016641		4	278	4	278	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20328621	20328621	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:20328621T>C	ENST00000381362.4	-	9	1415	c.1339A>G	c.(1339-1341)Atg>Gtg	p.M447V	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Missense_Mutation_p.M300V|GP2_ENST00000341642.5_Missense_Mutation_p.M297V|GP2_ENST00000302555.5_Missense_Mutation_p.M444V	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	447	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.M444V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AACATGAACATCTGAACTGAG	0.488																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1339-1341)ATG>GTG		zymogen granule membrane glycoprotein 2 isoform							118.0	94.0	102.0					16																	20328621		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20328621T>C	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1339A>G	16.37:g.20328621T>C	ENSP00000370767:p.Met447Val					GP2_uc002dgw.2_Missense_Mutation_p.M444V|GP2_uc002dgx.2_Missense_Mutation_p.M300V|GP2_uc002dgy.2_Missense_Mutation_p.M297V	p.M447V	NM_001007240	NP_001007241	P55259	GP2_HUMAN			9	1422	-			447			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1339A>G	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	T	11.85	1.761116	0.31137	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.55	3.23	0.37069	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.80330	0.4603	M	0.62723	1.935	0.33902	D	0.638607	B;P;P;B	0.38223	0.395;0.623;0.587;0.338	B;P;B;B	0.48704	0.207;0.587;0.225;0.393	T	0.76375	-0.2982	9	0.15952	T	0.53	-23.2085	6.9124	0.24342	0.1606:0.0:0.1458:0.6935	.	297;425;444;447	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	V	444;447;300;297;425	ENSP00000304044:M444V;ENSP00000370767:M447V;ENSP00000370765:M300V;ENSP00000343861:M297V	ENSP00000304044:M444V	M	-	1	0	GP2	20236122	0.995000	0.38212	0.995000	0.50966	0.999000	0.98932	0.936000	0.28938	0.344000	0.23847	0.533000	0.62120	ATG		PASS	0.488	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		42	56	42	56	---	---	---	---
CACNG3	10368	broad.mit.edu	37	16	24373169	24373169	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:24373169C>T	ENST00000005284.3	+	4	2135	c.933C>T	c.(931-933)cgC>cgT	p.R311R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R311R(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCAACAGGCGCACCACGCCCG	0.562																																						uc002dmf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)CGC>CGT		voltage-dependent calcium channel gamma-3							45.0	47.0	46.0					16																	24373169		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373169C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.933C>T	16.37:g.24373169C>T							p.R311R	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2133	+			311						Silent	SNP	ENST00000005284.3	37	c.933C>T	CCDS10620.1																																																																																				PASS	0.562	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		23	27	23	27	---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28877797	28877797	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:28877797G>T	ENST00000322610.8	+	4	821	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.D128Y|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.D128Y|SH2B1_ENST00000395532.4_Missense_Mutation_p.D128Y			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	128	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|Interaction with RAC1. {ECO:0000250}.|Required for NGF signaling. {ECO:0000250}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.D128Y(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ATCATCTGAGGACCTGGCCGG	0.627																																						uc002dri.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(382-384)GAC>TAC		SH2B adaptor protein 1 isoform 1							53.0	49.0	51.0					16																	28877797		2197	4300	6497	SO:0001583	missense	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28877797G>T	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.382G>T	16.37:g.28877797G>T	ENSP00000321221:p.Asp128Tyr					uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Missense_Mutation_p.D128Y|SH2B1_uc002drk.2_Missense_Mutation_p.D128Y|SH2B1_uc002drl.2_Missense_Mutation_p.D128Y|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Missense_Mutation_p.D128Y|SH2B1_uc002drm.2_Missense_Mutation_p.D128Y	p.D128Y	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			4	821	+			128			Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	c.382G>T	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	g	18.10	3.548619	0.65311	.	.	ENSG00000178188	ENST00000322610;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T	0.54675	0.56;0.57;0.58;0.58	4.77	4.77	0.60923	.	0.220960	0.30593	N	0.009288	T	0.49184	0.1542	N	0.24115	0.695	0.37377	D	0.911869	D;D;D	0.61080	0.987;0.987;0.989	P;P;P	0.53809	0.693;0.693;0.735	T	0.59526	-0.7438	10	0.87932	D	0	-5.4956	10.9931	0.47561	0.0923:0.0:0.9077:0.0	.	128;128;128	Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;SH2B1_HUMAN	Y	128	ENSP00000321221:D128Y;ENSP00000352232:D128Y;ENSP00000378903:D128Y;ENSP00000337163:D128Y	ENSP00000321221:D128Y	D	+	1	0	SH2B1	28785298	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.244000	0.32778	2.208000	0.71279	0.436000	0.28706	GAC		PASS	0.627	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		21	39	21	39	---	---	---	---
ZNF646	9726	broad.mit.edu	37	16	31088353	31088353	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:31088353G>A	ENST00000394979.2	+	1	1131	c.708G>A	c.(706-708)gaG>gaA	p.E236E	ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_5'Flank|ZNF646_ENST00000300850.5_Silent_p.E236E			O15015	ZN646_HUMAN	zinc finger protein 646	236					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.E236E(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGAGGAGGAGCGGCGGTACA	0.597																																						uc002eap.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(706-708)GAG>GAA		zinc finger protein 646							53.0	53.0	53.0					16																	31088353		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088353G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.708G>A	16.37:g.31088353G>A						ZNF668_uc002eao.2_5'Flank	p.E236E	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	997	+			236					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.708G>A																																																																																					PASS	0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		13	56	13	56	---	---	---	---
KAT8	84148	broad.mit.edu	37	16	31141588	31141588	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:31141588G>T	ENST00000543774.2	+	9	1248	c.913G>T	c.(913-915)Gag>Tag	p.E305*	RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000448516.2_Splice_Site_p.E305*|KAT8_ENST00000219797.4_Splice_Site_p.E305*			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	305	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.E305*(1)									CCTCCTGCAGGAGAAGGAGTC	0.642																																						uc002eay.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(913-915)GAG>TAG		MYST histone acetyltransferase 1 isoform 1							66.0	70.0	68.0					16																	31141588		2197	4300	6497	SO:0001630	splice_region_variant	84148				histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding	g.chr16:31141588G>T	AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.913-1G>T	16.37:g.31141588G>T						MYST1_uc002eax.2_Nonsense_Mutation_p.E305*|MYST1_uc002eaz.2_Nonsense_Mutation_p.E147*|MYST1_uc002eba.2_Nonsense_Mutation_p.E89*|MYST1_uc002ebb.2_RNA	p.E305*	NM_032188	NP_115564	Q9H7Z6	MYST1_HUMAN			8	931	+			305					A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Nonsense_Mutation	SNP	ENST00000543774.2	37	c.913G>T	CCDS10706.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259205	0.59321	.	.	ENSG00000103510	ENST00000219797;ENST00000448516	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-40.1988	12.9952	0.58642	0.0:0.0:1.0:0.0	.	.	.	.	X	305	.	.	E	+	1	0	KAT8	31049089	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	9.341000	0.97041	2.450000	0.82876	0.556000	0.70494	GAG		PASS	0.642	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3	NM_032188	Nonsense_Mutation	34	53	34	53	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47694647	47694647	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:47694647G>T	ENST00000323584.5	+	22	2137	c.2113G>T	c.(2113-2115)Gct>Tct	p.A705S	PHKB_ENST00000299167.8_Missense_Mutation_p.A705S|PHKB_ENST00000566044.1_Missense_Mutation_p.A698S|PHKB_ENST00000455779.1_Missense_Mutation_p.A698S	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	705					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.A705S(2)|p.A698S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CACCCCTAGTGCTCCTGAACT	0.423																																						uc002eev.3																			3	Substitution - Missense(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(2113-2115)GCT>TCT		phosphorylase kinase, beta isoform a							98.0	97.0	98.0					16																	47694647		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47694647G>T		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2113G>T	16.37:g.47694647G>T	ENSP00000313504:p.Ala705Ser					PHKB_uc002eeu.3_Missense_Mutation_p.A698S	p.A705S	NM_000293	NP_000284	Q93100	KPBB_HUMAN			22	2165	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	705					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2113G>T	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	6.290	0.421523	0.11928	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.90732	-2.72;-2.72	5.69	0.416	0.16416	Glycoside hydrolase 15-related (1);	0.218384	0.46145	N	0.000301	D	0.83243	0.5212	L	0.48642	1.525	0.30277	N	0.791683	B;B	0.10296	0.003;0.001	B;B	0.24394	0.053;0.003	T	0.67937	-0.5541	10	0.13470	T	0.59	-1.5471	6.3302	0.21266	0.2553:0.0:0.6263:0.1184	.	705;698	Q93100;Q93100-4	KPBB_HUMAN;.	S	698;698;705	ENSP00000414345:A698S;ENSP00000313504:A705S	ENSP00000299167:A698S	A	+	1	0	PHKB	46252148	1.000000	0.71417	0.000000	0.03702	0.232000	0.25224	3.244000	0.51399	-0.115000	0.11915	0.585000	0.79938	GCT		PASS	0.423	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			57	74	57	74	---	---	---	---
LPCAT2	54947	broad.mit.edu	37	16	55583305	55583305	+	Missense_Mutation	SNP	G	G	A	rs558390066		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:55583305G>A	ENST00000262134.5	+	10	1236	c.1052G>A	c.(1051-1053)cGa>cAa	p.R351Q		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	351					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)	p.R351Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AAAATTAGCCGAAAATTGAAG	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		16567	0.001		0.0	False		,,,				2504	0.0					uc002eie.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1051-1053)CGA>CAA		lysophosphatidylcholine acyltransferase 2							62.0	66.0	65.0					16																	55583305		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55583305G>A	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.1052G>A	16.37:g.55583305G>A	ENSP00000262134:p.Arg351Gln					LPCAT2_uc002eic.2_Missense_Mutation_p.R81Q	p.R351Q	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN			10	1233	+			351			Lumenal (Potential).		A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.1052G>A	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122126	0.37436	.	.	ENSG00000087253	ENST00000262134	T	0.66815	-0.23	6.17	1.7	0.24286	.	0.291763	0.37530	N	0.002043	T	0.43299	0.1241	N	0.16016	0.355	0.38096	D	0.937111	B	0.02656	0.0	B	0.04013	0.001	T	0.19910	-1.0291	10	0.23302	T	0.38	-12.058	8.3479	0.32284	0.51:0.0:0.49:0.0	.	351	Q7L5N7	PCAT2_HUMAN	Q	351	ENSP00000262134:R351Q	ENSP00000262134:R351Q	R	+	2	0	LPCAT2	54140806	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	1.922000	0.40045	0.495000	0.27882	-0.137000	0.14449	CGA		PASS	0.358	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		37	66	37	66	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58612662	58612662	+	Missense_Mutation	SNP	T	T	C	rs112226008	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:58612662T>C	ENST00000317147.5	-	13	1857	c.1525A>G	c.(1525-1527)Att>Gtt	p.I509V	CNOT1_ENST00000441024.2_Missense_Mutation_p.I509V|CNOT1_ENST00000569240.1_Missense_Mutation_p.I509V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	509					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.I509V(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAAGGAAAATTGGCATCAGA	0.428													T|||	2	0.000399361	0.0	0.0	5008	,	,		18048	0.001		0.001	False		,,,				2504	0.0					uc002env.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(1525-1527)ATT>GTT		CCR4-NOT transcription complex, subunit 1		T	VAL/ILE,VAL/ILE	0,4396	2.1+/-5.4	0,0,2198	204.0	180.0	188.0		1525,1525	5.7	1.0	16	dbSNP_132	188	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CNOT1	NM_016284.3,NM_206999.1	29,29	0,1,6497	CC,CT,TT		0.0116,0.0,0.0077	benign,benign	509/2377,509/1552	58612662	1,12995	2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58612662T>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.1525A>G	16.37:g.58612662T>C	ENSP00000320949:p.Ile509Val					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.I509V|CNOT1_uc002enx.2_Missense_Mutation_p.I509V|CNOT1_uc002enz.1_Intron	p.I509V	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	13	1818	-			509					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.1525A>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455503	0.43634	0.0	1.16E-4	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.18657	2.2;2.2	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	N	0.21373	0.66	0.80722	D	1	P;B;B	0.38863	0.65;0.06;0.165	P;B;B	0.54140	0.743;0.017;0.069	T	0.05920	-1.0856	9	.	.	.	4.0405	15.8755	0.79159	0.0:0.0:0.0:1.0	.	509;509;509	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	509	ENSP00000320949:I509V;ENSP00000413113:I509V	.	I	-	1	0	CNOT1	57170163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.027000	0.88791	2.154000	0.67381	0.454000	0.30748	ATT		PASS	0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		49	65	49	65	---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75269714	75269714	+	Silent	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:75269714C>A	ENST00000162330.5	-	5	1209	c.1083G>T	c.(1081-1083)gtG>gtT	p.V361V	BCAR1_ENST00000393422.2_Silent_p.V379V|BCAR1_ENST00000393420.6_Silent_p.V379V|BCAR1_ENST00000546196.1_Silent_p.V332V|BCAR1_ENST00000535626.2_Silent_p.V213V|BCAR1_ENST00000542031.2_Silent_p.V359V|BCAR1_ENST00000420641.3_Silent_p.V379V|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Silent_p.V407V|BCAR1_ENST00000538440.2_Silent_p.V361V	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	361	Substrate for kinases. {ECO:0000250}.				actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.V361V(1)|p.V379V(1)|p.V407V(1)		breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCACGTCATACACGTCCTCGG	0.726																																						uc002fdv.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(5)|breast(2)|prostate(1)	8						c.(1081-1083)GTG>GTT		breast cancer anti-estrogen resistance 1							12.0	15.0	14.0					16																	75269714		2175	4284	6459	SO:0001819	synonymous_variant	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75269714C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.1083G>T	16.37:g.75269714C>A						BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Silent_p.V151V|BCAR1_uc010cgu.2_Silent_p.V350V|BCAR1_uc010vna.1_Silent_p.V359V|BCAR1_uc010vnb.1_Silent_p.V407V|BCAR1_uc002fdw.2_Silent_p.V361V|BCAR1_uc010vnc.1_Silent_p.V213V|BCAR1_uc010vnd.1_Silent_p.V379V|BCAR1_uc002fdx.2_Silent_p.V379V	p.V361V	NM_014567	NP_055382	P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	5	1206	-			361			Substrate for kinases (By similarity).		B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Silent	SNP	ENST00000162330.5	37	c.1083G>T	CCDS10915.1																																																																																				PASS	0.726	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		8	10	8	10	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81204619	81204619	+	RNA	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr16:81204619T>C	ENST00000527937.1	-	0	4165				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.R947G(2)|p.R262G(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCCTGCACCCTCTGCACGTCC	0.592																																						uc002fgh.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2839-2841)AGG>GGG		polycystin 1-like 2 isoform a							34.0	36.0	35.0					16																	81204619		2149	4268	6417			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81204619T>C	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81204619T>C						PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_Missense_Mutation_p.R262G|PKD1L2_uc002fgj.2_Missense_Mutation_p.R947G	p.R947G	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			17	2839	-			947			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000527937.1	37	c.2839A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.603|0.603	-0.828337|-0.828337	0.02734|0.02734	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114	.|T;T	.|0.14266	.|2.52;5.08	4.42|4.42	-0.755|-0.755	0.11061|0.11061	.|Egg jelly receptor, REJ-like (1);	.|1.314950	.|0.04895	.|N	.|0.450253	T|T	0.09774|0.09774	0.0240|0.0240	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.08055	.|0.003;0.0	T|T	0.38222|0.38222	-0.9671|-0.9671	4|9	.|0.48119	.|T	.|0.1	-6.6711|-6.6711	4.8735|4.8735	0.13644|0.13644	0.0:0.1876:0.3316:0.4809|0.0:0.1876:0.3316:0.4809	.|.	.|947;947	.|Q7Z442-3;Q7Z442	.|.;PK1L2_HUMAN	G|G	474|262;947	.|ENSP00000436309:R262G;ENSP00000337397:R947G	.|ENSP00000337397:R947G	E|R	-|-	2|1	0|2	PKD1L2|PKD1L2	79762120|79762120	0.008000|0.008000	0.16893|0.16893	0.761000|0.761000	0.31378|0.31378	0.003000|0.003000	0.03518|0.03518	-0.151000|-0.151000	0.10175|0.10175	0.174000|0.174000	0.19809|0.19809	-1.323000|-1.323000	0.01288|0.01288	GAG|AGG		PASS	0.592	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	polymorphic_pseudogene	OTTHUMT00000387978.1			21	19	21	19	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACCACACTATGTCGAAAAGT	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(640-642)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							127.0	114.0	119.0					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578208T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R	p.H214R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	835	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		PASS	0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	8	20	8	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10222449	10222449	+	Silent	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:10222449G>C	ENST00000418404.3	-	26	3559	c.3396C>G	c.(3394-3396)ctC>ctG	p.L1132L	MYH13_ENST00000252172.4_Silent_p.L1132L|RP11-401O9.3_ENST00000577743.1_RNA|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1132					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1132L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTTGGCTCTGAGCGTGTGTT	0.557																																						uc002gmk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(3394-3396)CTC>CTG		myosin, heavy polypeptide 13, skeletal muscle							52.0	56.0	55.0					17																	10222449		2201	4299	6500	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10222449G>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3396C>G	17.37:g.10222449G>C							p.L1132L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			27	3486	-			1132			Potential.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3396C>G	CCDS45613.1																																																																																				PASS	0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		56	11	56	11	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35614769	35614769	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:35614769C>T	ENST00000394406.2	-	14	1761	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	ACACA_ENST00000353139.5_Missense_Mutation_p.G561E|ACACA_ENST00000335166.5_Missense_Mutation_p.G446E|ACACA_ENST00000360679.3_Missense_Mutation_p.G466E	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	524	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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.G561E(1)|p.G466E(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGAACTGTTCCTGAGCTGGG	0.383																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1570-1572)GGA>GAA		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						83.0	82.0	82.0					17																	35614769		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35614769C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1571G>A	17.37:g.35614769C>T	ENSP00000377928:p.Gly524Glu					ACACA_uc002hnk.2_Missense_Mutation_p.G446E|ACACA_uc002hnl.2_Missense_Mutation_p.G466E|ACACA_uc002hnn.2_Missense_Mutation_p.G524E|ACACA_uc002hno.2_Missense_Mutation_p.G561E|ACACA_uc010cuz.2_Missense_Mutation_p.G524E	p.G524E	NM_198836	NP_942133	Q13085	ACACA_HUMAN			14	1762	-		Breast(25;0.00157)|Ovarian(249;0.15)	524			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1571G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074370	0.94000	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5	5.84	5.84	0.93424	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94145	0.8122	H	0.98612	4.28	0.80722	D	1	D;D;D	0.69078	0.968;0.997;0.983	P;D;D	0.70487	0.839;0.969;0.913	D	0.95903	0.8917	10	0.87932	D	0	-15.5381	19.1261	0.93384	0.0:1.0:0.0:0.0	.	561;524;466	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	E	561;466;524;548;446	ENSP00000344789:G561E;ENSP00000353898:G466E;ENSP00000377928:G524E;ENSP00000335323:G446E	ENSP00000335323:G446E	G	-	2	0	ACACA	32688882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.779000	0.95612	0.655000	0.94253	GGA		PASS	0.383	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		40	27	40	27	---	---	---	---
FBXL20	84961	broad.mit.edu	37	17	37439059	37439059	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:37439059C>T	ENST00000264658.6	-	8	804	c.544G>A	c.(544-546)Gta>Ata	p.V182I	FBXL20_ENST00000583610.1_Missense_Mutation_p.V182I|FBXL20_ENST00000577399.1_Missense_Mutation_p.V184I|FBXL20_ENST00000394294.3_Missense_Mutation_p.V150I	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	182					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)		p.V182I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCCTTGGTTACTTGGTCACAC	0.443																																						uc010wed.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(544-546)GTA>ATA		F-box and leucine-rich repeat protein 20							151.0	139.0	143.0					17																	37439059		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37439059C>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.544G>A	17.37:g.37439059C>T	ENSP00000264658:p.Val182Ile					FBXL20_uc002hrt.2_Missense_Mutation_p.V182I|FBXL20_uc010cvu.2_Missense_Mutation_p.V150I	p.V182I	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		8	765	-			182			LRR 5.		A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.544G>A	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	8.573	0.880462	0.17467	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.01854	4.6;4.78	5.56	5.56	0.83823	.	0.061149	0.64402	D	0.000004	T	0.01254	0.0041	N	0.04063	-0.285	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.12156	0.003;0.007	T	0.45381	-0.9265	10	0.02654	T	1	.	12.49	0.55895	0.0:0.9229:0.0:0.0771	.	150;182	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	I	182;150	ENSP00000264658:V182I;ENSP00000377832:V150I	ENSP00000264658:V182I	V	-	1	0	FBXL20	34692585	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.740000	0.55082	2.619000	0.88677	0.467000	0.42956	GTA		PASS	0.443	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		5	161	5	161	---	---	---	---
FAM117A	81558	broad.mit.edu	37	17	47810055	47810055	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:47810055T>C	ENST00000240364.2	-	2	303	c.224A>G	c.(223-225)gAa>gGa	p.E75G	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	75								p.E75G(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CACTGACTTTTCTGGGGCCAC	0.597																																						uc002ipk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(223-225)GAA>GGA		family with sequence similarity 117, member A							95.0	69.0	78.0					17																	47810055		2203	4300	6503	SO:0001583	missense	81558							g.chr17:47810055T>C	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.224A>G	17.37:g.47810055T>C	ENSP00000240364:p.Glu75Gly					FAM117A_uc010wlz.1_5'UTR	p.E75G	NM_030802	NP_110429	Q9C073	F117A_HUMAN			2	293	-			75					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.224A>G	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.144949	0.57044	.	.	ENSG00000121104	ENST00000240364;ENST00000506156	.	.	.	5.28	5.28	0.74379	.	0.129591	0.50627	D	0.000110	T	0.54046	0.1834	L	0.40543	1.245	0.80722	D	1	B	0.24426	0.103	B	0.28011	0.085	T	0.50346	-0.8839	9	0.27785	T	0.31	-13.1277	13.602	0.62024	0.0:0.0:0.0:1.0	.	75	Q9C073	F117A_HUMAN	G	75	.	ENSP00000240364:E75G	E	-	2	0	FAM117A	45165054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.728000	0.47319	2.217000	0.71921	0.533000	0.62120	GAA		PASS	0.597	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		14	10	14	10	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61902894	61902894	+	5'Flank	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:61902894A>G	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000427159.2_Splice_Site|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						CACTCCCTGTACCTTGTGAGT	0.567																																						uc002jbz.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e5+1		FtsJ homolog 3							134.0	104.0	114.0					17																	61902894		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902894A>G	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902894A>G	Exception_encountered					FTSJ3_uc002jca.2_Splice_Site_p.A134_splice|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	p.A134_splice	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			5	478	-								A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	c.400_splice	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.443478	0.43429	.	.	ENSG00000108592	ENST00000427159	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2652	0.54674	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FTSJ3	59256626	1.000000	0.71417	0.914000	0.36105	0.548000	0.35241	8.148000	0.89630	1.988000	0.58038	0.374000	0.22700	.		PASS	0.567	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		42	25	42	25	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73747062	73747062	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:73747062C>A	ENST00000200181.3	+	30	3850	c.3663C>A	c.(3661-3663)agC>agA	p.S1221R	ITGB4_ENST00000450894.3_Missense_Mutation_p.S1221R|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1221R|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1221R|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1221R	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1221					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.S1221R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTGCCCAGCGAGCCAGGGC	0.632																																						uc002jpg.2																			1	Substitution - Missense(1)		lung(1)	lung(4)	4						c.(3661-3663)AGC>AGA		integrin beta 4 isoform 1 precursor							99.0	95.0	96.0					17																	73747062		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73747062C>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3663C>A	17.37:g.73747062C>A	ENSP00000200181:p.Ser1221Arg					ITGB4_uc002jph.2_Missense_Mutation_p.S1221R|ITGB4_uc002jpi.3_Missense_Mutation_p.S1221R|ITGB4_uc002jpj.2_Missense_Mutation_p.S1221R	p.S1221R	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		30	3850	+	all_cancers(13;1.5e-07)		1221			Fibronectin type-III 2.|Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.3663C>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	C	7.846	0.722990	0.15439	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.61510	0.1;0.1;0.1	5.33	-6.54	0.01860	Fibronectin, type III (5);Immunoglobulin-like fold (1);	0.106321	0.64402	D	0.000003	T	0.68063	0.2960	M	0.62723	1.935	0.38279	D	0.942362	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.996;0.997	T	0.74633	-0.3600	10	0.87932	D	0	.	17.005	0.86390	0.0:0.2862:0.0:0.7138	.	1221;1221;1221	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	R	1221	ENSP00000200181:S1221R;ENSP00000344079:S1221R;ENSP00000400217:S1221R	ENSP00000200181:S1221R	S	+	3	2	ITGB4	71258657	0.000000	0.05858	0.892000	0.35008	0.524000	0.34500	-2.040000	0.01416	-1.138000	0.02884	-1.036000	0.02392	AGC		PASS	0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			65	57	65	57	---	---	---	---
LDLRAD4	753	broad.mit.edu	37	18	13621229	13621229	+	Missense_Mutation	SNP	C	C	T	rs375984547		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr18:13621229C>T	ENST00000359446.5	+	4	763	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDLRAD4_ENST00000586765.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000585931.1_Missense_Mutation_p.R22C|LDLRAD4_ENST00000399848.3_Missense_Mutation_p.R99C|LDLRAD4_ENST00000587757.1_Missense_Mutation_p.R62C|LDLRAD4_ENST00000361205.4_Missense_Mutation_p.R99C	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	99					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)	p.R99C(2)|p.R62C(1)									CTTCATCAACCGCCCGAACCA	0.637																																						uc002ksa.2																			3	Substitution - Missense(3)		lung(2)|stomach(1)	ovary(2)|skin(1)	3						c.(295-297)CGC>TGC		hypothetical protein LOC753 isoform alpha 1		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	97.0	80.0	85.0		184,184,121,295,295,121	5.6	1.0	18		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	C18orf1	NM_001003674.2,NM_001003675.2,NM_004338.3,NM_181481.3,NM_181482.3,NM_181483.3	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	62/270,62/252,41/249,99/307,99/289,41/231	13621229	1,13005	2203	4300	6503	SO:0001583	missense	753					integral to membrane|plasma membrane		g.chr18:13621229C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.295C>T	18.37:g.13621229C>T	ENSP00000352420:p.Arg99Cys					C18orf1_uc002ksb.2_Missense_Mutation_p.R99C|C18orf1_uc002kse.2_Missense_Mutation_p.R62C|C18orf1_uc002ksf.2_Missense_Mutation_p.R62C|C18orf1_uc002ksg.1_Missense_Mutation_p.R22C|C18orf1_uc002ksh.1_Missense_Mutation_p.R41C|C18orf1_uc002ksi.1_Missense_Mutation_p.R41C	p.R99C	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	5	963	+			99			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Missense_Mutation	SNP	ENST00000359446.5	37	c.295C>T	CCDS32793.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574042	0.86542	0.0	1.16E-4	ENSG00000168675	ENST00000361205;ENST00000399848;ENST00000359446;ENST00000399847;ENST00000361303;ENST00000435606	T;T	0.37411	1.2;1.48	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.999;0.997;0.999;0.999;0.998	T	0.68652	-0.5352	10	0.87932	D	0	0.527	19.156	0.93510	0.0:1.0:0.0:0.0	.	41;41;62;62;99;99	O15165-4;O15165-3;E9PAY9;B3KNT9;O15165-2;O15165	.;.;.;.;.;CR001_HUMAN	C	99;99;62;62;41;41	ENSP00000354753:R99C;ENSP00000382741:R99C	ENSP00000352420:R62C	R	+	1	0	C18orf1	13611229	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.684000	0.46951	2.645000	0.89757	0.655000	0.94253	CGC		PASS	0.637	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		21	77	21	77	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25572701	25572701	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr18:25572701C>G	ENST00000269141.3	-	9	1685	c.1262G>C	c.(1261-1263)aGa>aCa	p.R421T	CDH2_ENST00000399380.3_Missense_Mutation_p.R390T	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	421	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.R421T(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCACTGATTCTGTACACTGC	0.517																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1261-1263)AGA>ACA		cadherin 2, type 1 preproprotein							225.0	173.0	191.0					18																	25572701		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25572701C>G	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1262G>C	18.37:g.25572701C>G	ENSP00000269141:p.Arg421Thr					CDH2_uc010xbn.1_Missense_Mutation_p.R390T	p.R421T	NM_001792	NP_001783	P19022	CADH2_HUMAN			9	1721	-			421			Extracellular (Potential).|Cadherin 3.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1262G>C	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	8.393	0.840245	0.16891	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.52295	0.67;0.67	5.39	3.58	0.41010	Cadherin (4);Cadherin-like (1);	0.161242	0.56097	D	0.000035	T	0.46541	0.1398	L	0.40543	1.245	0.42205	D	0.991789	B;P	0.36577	0.242;0.558	P;P	0.48270	0.531;0.572	T	0.27971	-1.0058	10	0.14252	T	0.57	.	12.0472	0.53487	0.0:0.7999:0.0:0.2001	.	390;421	A8MWK3;P19022	.;CADH2_HUMAN	T	421;390	ENSP00000269141:R421T;ENSP00000382312:R390T	ENSP00000269141:R421T	R	-	2	0	CDH2	23826699	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	2.532000	0.45659	1.397000	0.46682	0.655000	0.94253	AGA		PASS	0.517	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		91	77	91	77	---	---	---	---
GALNT1	2589	broad.mit.edu	37	18	33234650	33234650	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr18:33234650G>A	ENST00000269195.5	+	1	127	c.24G>A	c.(22-24)aaG>aaA	p.K8K	GALNT1_ENST00000537549.1_De_novo_Start_OutOfFrame|GALNT1_ENST00000591081.1_Silent_p.K8K	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	8					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K8K(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CATACTGCAAGGTGGTCCTAG	0.338																																						uc010dmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(22-24)AAG>AAA		polypeptide N-acetylgalactosaminyltransferase 1							87.0	69.0	75.0					18																	33234650		2203	4300	6503	SO:0001819	synonymous_variant	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33234650G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.24G>A	18.37:g.33234650G>A						GALNT1_uc002kyz.3_5'UTR|GALNT1_uc002kza.2_Silent_p.K8K|GALNT1_uc002kzb.2_Silent_p.K8K	p.K8K	NM_020474	NP_065207	Q10472	GALT1_HUMAN			2	77	+			8			Cytoplasmic (Potential).		Q86TJ7|Q9UM86	Silent	SNP	ENST00000269195.5	37	c.24G>A	CCDS11915.1																																																																																				PASS	0.338	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474		12	18	12	18	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54339771	54339771	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr18:54339771C>T	ENST00000254442.3	+	2	236	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	WDR7_ENST00000357574.3_Missense_Mutation_p.P9S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	9					hematopoietic progenitor cell differentiation (GO:0002244)			p.P9S(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTTGTTCTACCCATTGTTCT	0.408																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(25-27)CCC>TCC		rabconnectin-3 beta isoform 1							85.0	75.0	78.0					18																	54339771		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54339771C>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.25C>T	18.37:g.54339771C>T	ENSP00000254442:p.Pro9Ser					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.P9S	p.P9S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	2	236	+			9					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.25C>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968282	0.92855	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000444065;ENST00000398311	T;T	0.78364	-1.13;-1.17	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.83275	0.938;0.996	D	0.88890	0.3345	10	0.72032	D	0.01	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	9;9	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	9	ENSP00000254442:P9S;ENSP00000350187:P9S	ENSP00000254442:P9S	P	+	1	0	WDR7	52490769	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.139000	0.77314	2.700000	0.92200	0.563000	0.77884	CCC		PASS	0.408	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			8	151	8	151	---	---	---	---
PIGN	23556	broad.mit.edu	37	18	59807680	59807680	+	Silent	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr18:59807680A>T	ENST00000357637.5	-	12	1411	c.996T>A	c.(994-996)atT>atA	p.I332I	PIGN_ENST00000400334.3_Silent_p.I332I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	332					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.I332I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				AGGGAACTCCAATAAGGGAAG	0.303																																						uc002lii.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5						c.(994-996)ATT>ATA		phosphatidylinositol glycan anchor biosynthesis,							54.0	48.0	50.0					18																	59807680		1824	4080	5904	SO:0001819	synonymous_variant	23556				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr18:59807680A>T	AF109219	CCDS45879.1	18q21.33	2013-02-26	2006-06-28		ENSG00000197563	ENSG00000197563		"""Phosphatidylinositol glycan anchor biosynthesis"""	8967	protein-coding gene	gene with protein product		606097	"""phosphatidylinositol glycan, class N"""			10069808, 10574991	Standard	NM_012327		Approved	MDC4, PIG-N	uc021ulb.1	O95427	OTTHUMG00000180098	ENST00000357637.5:c.996T>A	18.37:g.59807680A>T						PIGN_uc002lij.3_Silent_p.I332I	p.I332I	NM_176787	NP_789744	O95427	PIGN_HUMAN			12	1444	-		Colorectal(73;0.187)	332			Lumenal (Potential).		Q7L8F8|Q8TC01|Q9NT05	Silent	SNP	ENST00000357637.5	37	c.996T>A	CCDS45879.1																																																																																				PASS	0.303	PIGN-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449757.2	NM_176787		4	25	4	25	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74672689	74672689	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr18:74672689C>T	ENST00000253159.8	+	30	5489	c.5291C>T	c.(5290-5292)gCg>gTg	p.A1764V	ZNF236_ENST00000320610.9_Missense_Mutation_p.A1766V	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1764					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.A1764V(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)		CAGAAGAGTGCGCTGCAGGTG	0.517																																						uc002lmi.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(4)	4						c.(5290-5292)GCG>GTG		zinc finger protein 236							102.0	109.0	107.0					18																	74672689		2027	4195	6222	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74672689C>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.5291C>T	18.37:g.74672689C>T	ENSP00000253159:p.Ala1764Val					ZNF236_uc002lmj.2_RNA	p.A1764V	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	30	5489	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1764			C2H2-type 29.		B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.5291C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503580	0.44558	.	.	ENSG00000130856	ENST00000253159	T	0.07688	3.17	5.61	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.065214	0.64402	D	0.000014	T	0.17023	0.0409	L	0.31420	0.93	0.36848	D	0.887773	D	0.89917	1.0	D	0.83275	0.996	T	0.04017	-1.0984	10	0.48119	T	0.1	.	12.445	0.55645	0.1336:0.7381:0.1283:0.0	.	1764	Q9UL36	ZN236_HUMAN	V	1764	ENSP00000253159:A1764V	ENSP00000253159:A1764V	A	+	2	0	ZNF236	72801677	1.000000	0.71417	0.162000	0.22713	0.811000	0.45836	5.757000	0.68766	0.673000	0.31224	0.655000	0.94253	GCG		PASS	0.517	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			8	226	8	226	---	---	---	---
SAFB	6294	broad.mit.edu	37	19	5664451	5664451	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:5664451G>T	ENST00000292123.5	+	17	2441		c.e17+1		SAFB_ENST00000433404.1_Splice_Site|SAFB_ENST00000454510.1_Splice_Site|SAFB_ENST00000588852.1_Splice_Site|SAFB_ENST00000592224.1_Splice_Site|SAFB_ENST00000538656.1_Splice_Site	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B						chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGAAGGACAGGTAAGTCTGAA	0.458																																					Colon(88;338 1345 6184 8214 20897)	uc002mcf.2																			1	Unknown(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.e17+1		scaffold attachment factor B							84.0	83.0	83.0					19																	5664451		2203	4300	6503	SO:0001630	splice_region_variant	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5664451G>T	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2334+1G>T	19.37:g.5664451G>T						SAFB_uc002mcg.2_Splice_Site_p.Q778_splice|SAFB_uc002mce.3_Splice_Site_p.Q777_splice|SAFB_uc010xir.1_Splice_Site_p.Q777_splice|SAFB_uc010xis.1_Splice_Site_p.Q709_splice|SAFB_uc010xit.1_Splice_Site_p.Q620_splice|SAFB_uc010xiu.1_Splice_Site_p.Q577_splice	p.Q778_splice	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	17	2387	+								A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Splice_Site	SNP	ENST00000292123.5	37	c.2334_splice	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132309	0.77662	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5634	0.84572	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SAFB	5615451	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.518000	0.73764	2.492000	0.84095	0.655000	0.94253	.		PASS	0.458	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2		Intron	54	3	54	3	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058961	9058961	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:9058961G>A	ENST00000397910.4	-	3	28688	c.28485C>T	c.(28483-28485)acC>acT	p.T9495T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9497	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.T9495T(1)|p.T5128T(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						TCTCATCTGAGGTGATATTCA	0.473																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28483-28485)ACC>ACT		mucin 16							165.0	160.0	162.0					19																	9058961		1989	4171	6160	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058961G>A	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.28485C>T	19.37:g.9058961G>A							p.T9495T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28689	-			9497			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28485C>T	CCDS54212.1																																																																																				PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		61	247	61	247	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10600339	10600339	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:10600339T>C	ENST00000171111.5	-	4	2063	c.1516A>G	c.(1516-1518)Atc>Gtc	p.I506V	KEAP1_ENST00000393623.2_Missense_Mutation_p.I506V|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	506					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.I506V(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)	CCGCTTCGGATGGTGTTCATT	0.597																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1516-1518)ATC>GTC		kelch-like ECH-associated protein 1							89.0	73.0	78.0					19																	10600339		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600339T>C	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.1516A>G	19.37:g.10600339T>C	ENSP00000171111:p.Ile506Val					KEAP1_uc002mop.1_Missense_Mutation_p.I224V|KEAP1_uc002mor.1_Missense_Mutation_p.I506V	p.I506V	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	1672	-			506			Kelch 4.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1516A>G	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754947	0.31046	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.65732	-0.17;-0.17	5.52	4.51	0.55191	Kelch-type beta propeller (1);	0.060636	0.64402	D	0.000005	T	0.24661	0.0598	N	0.00521	-1.4	0.33820	D	0.628987	B	0.02656	0.0	B	0.04013	0.001	T	0.25257	-1.0137	10	0.25751	T	0.34	.	6.2259	0.20708	0.0:0.1769:0.0:0.8231	.	506	Q14145	KEAP1_HUMAN	V	506	ENSP00000171111:I506V;ENSP00000377245:I506V	ENSP00000171111:I506V	I	-	1	0	KEAP1	10461339	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	2.011000	0.40922	2.119000	0.64992	0.456000	0.33151	ATC		PASS	0.597	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		37	5	37	5	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13397667	13397667	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:13397667A>T	ENST00000360228.5	-	20	3202	c.3203T>A	c.(3202-3204)aTg>aAg	p.M1068K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.M1069K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1069					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.M1069K(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGTTCTTCATGTTGTCAAT	0.667																																						uc010dze.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(3205-3207)ATG>AAG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						18.0	21.0	20.0					19																	13397667		1949	4116	6065	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13397667A>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3203T>A	19.37:g.13397667A>T	ENSP00000353362:p.Met1068Lys					CACNA1A_uc010dzc.2_Missense_Mutation_p.M594K|CACNA1A_uc002mwy.3_Missense_Mutation_p.M1068K|CACNA1A_uc010xne.1_Missense_Mutation_p.M597K	p.M1069K	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		20	3442	-			1069			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.3206T>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	12.47	1.948535	0.34377	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95238	-3.65	5.19	5.19	0.71726	.	0.985027	0.08293	N	0.968105	D	0.91192	0.7225	L	0.44542	1.39	0.31921	N	0.613461	B;B;B	0.25105	0.118;0.05;0.023	B;B;B	0.24701	0.055;0.048;0.019	T	0.81322	-0.0985	10	0.05959	T	0.93	.	14.0265	0.64588	1.0:0.0:0.0:0.0	.	1069;1072;1068	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	1068;1072;1069;1069	ENSP00000353362:M1068K	ENSP00000317661:M1069K	M	-	2	0	CACNA1A	13258667	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.880000	0.69698	1.964000	0.57103	0.454000	0.30748	ATG		PASS	0.667	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		30	7	30	7	---	---	---	---
OR7A10	390892	broad.mit.edu	37	19	14952418	14952418	+	Missense_Mutation	SNP	A	A	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:14952418A>T	ENST00000248058.1	-	1	271	c.272T>A	c.(271-273)gTc>gAc	p.V91D		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V91D(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATAGGTGATGACTTTGTTGTG	0.473																																						uc002mzx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GTC>GAC		olfactory receptor, family 7, subfamily A,							131.0	109.0	116.0					19																	14952418		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952418A>T		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.272T>A	19.37:g.14952418A>T	ENSP00000248058:p.Val91Asp						p.V91D	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	272	-	Ovarian(108;0.203)		91			Extracellular (Potential).		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.272T>A	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	a	1.156	-0.645240	0.03531	.	.	ENSG00000127515	ENST00000248058	T	0.00551	6.65	2.97	-1.8	0.07907	GPCR, rhodopsin-like superfamily (1);	1.518000	0.05047	U	0.477352	T	0.00552	0.0018	L	0.54908	1.71	0.09310	N	1	B	0.26483	0.15	B	0.28465	0.09	T	0.45454	-0.9260	10	0.38643	T	0.18	.	0.9967	0.01469	0.2497:0.1875:0.3774:0.1854	.	91	O76100	OR7AA_HUMAN	D	91	ENSP00000248058:V91D	ENSP00000248058:V91D	V	-	2	0	OR7A10	14813418	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.310000	0.00255	-0.120000	0.11809	0.352000	0.21897	GTC		PASS	0.473	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		63	9	63	9	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15354077	15354077	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:15354077G>A	ENST00000263377.2	-	14	3024	c.2803C>T	c.(2803-2805)Ctg>Ttg	p.L935L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	935					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.L935L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACCTTCTGCAGCTGCTGCAGG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2803-2805)CTG>TTG		bromodomain-containing protein 4 isoform long							9.0	9.0	9.0					19																	15354077		2154	4219	6373	SO:0001819	synonymous_variant	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15354077G>A	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2803C>T	19.37:g.15354077G>A							p.L935L	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		14	3025	-			935					O60433|Q4G0X8|Q86YS8|Q96PD3	Silent	SNP	ENST00000263377.2	37	c.2803C>T	CCDS12328.1																																																																																				PASS	0.682	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		9	3	9	3	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17435645	17435645	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:17435645C>G	ENST00000159087.4	-	17	3370	c.3212G>C	c.(3211-3213)gGg>gCg	p.G1071A		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1071					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.G1071A(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CCGGGCCTGCCCGCCCGCCCC	0.711																																						uc002ngf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3211-3213)GGG>GCG		anoctamin 8							25.0	32.0	29.0					19																	17435645		2200	4287	6487	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17435645C>G	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3212G>C	19.37:g.17435645C>G	ENSP00000159087:p.Gly1071Ala					ANO8_uc010eap.2_RNA	p.G1071A	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN			17	3371	-			1071			Extracellular (Potential).		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.3212G>C	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320613	0.23994	.	.	ENSG00000074855	ENST00000159087	T	0.61742	0.08	3.46	3.46	0.39613	.	0.270585	0.29424	N	0.012189	T	0.36936	0.0985	L	0.27053	0.805	0.30911	N	0.729051	B	0.27351	0.176	B	0.19666	0.026	T	0.30119	-0.9989	10	0.15499	T	0.54	.	8.1481	0.31124	0.2402:0.7598:0.0:0.0	.	1071	Q9HCE9	ANO8_HUMAN	A	1071	ENSP00000159087:G1071A	ENSP00000159087:G1071A	G	-	2	0	ANO8	17296645	0.787000	0.28750	0.440000	0.26846	0.734000	0.41952	0.892000	0.28322	1.484000	0.48361	0.297000	0.19635	GGG		PASS	0.711	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		64	13	64	13	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19752824	19752824	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:19752824T>C	ENST00000203556.4	-	3	278	c.141A>G	c.(139-141)tcA>tcG	p.S47S	GMIP_ENST00000445806.2_Silent_p.S47S|GMIP_ENST00000587238.1_Silent_p.S47S	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	47					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)	p.S47S(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGGGTCTTCTGAGAGTAGAG	0.587																																						uc002nnd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(139-141)TCA>TCG		GEM interacting protein							48.0	39.0	42.0					19																	19752824		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19752824T>C	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.141A>G	19.37:g.19752824T>C						GMIP_uc010xrb.1_Silent_p.S47S|GMIP_uc010xrc.1_Silent_p.S47S	p.S47S	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			3	258	-			47					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.141A>G	CCDS12408.1																																																																																				PASS	0.587	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		18	3	18	3	---	---	---	---
COX6B1	1340	broad.mit.edu	37	19	36145572	36145572	+	Splice_Site	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:36145572G>T	ENST00000592141.1	+	3	471	c.206G>T	c.(205-207)tGg>tTg	p.W69L	COX6B1_ENST00000246554.3_Splice_Site_p.W69L|COX6B1_ENST00000392201.1_Splice_Site_p.W69L			P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	69					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)	p.W86L(1)|p.W69L(1)		lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACATCCTGGGTATGTGCC	0.607																																						uc002oav.2																			2	Substitution - Missense(2)		lung(2)		0						c.(205-207)TGG>TTG		cytochrome c oxidase subunit VIb polypeptide 1							128.0	95.0	106.0					19																	36145572		2203	4300	6503	SO:0001630	splice_region_variant	1340				respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity	g.chr19:36145572G>T	BC001015	CCDS12469.1	19q13.1	2011-07-04	2010-01-07	2004-08-12	ENSG00000126267	ENSG00000126267	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2280	protein-coding gene	gene with protein product		124089	"""cytochrome c oxidase subunit Vib"", ""cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous)"""	COX6B		1650756	Standard	NM_001863		Approved	COXG	uc002oav.3	P14854	OTTHUMG00000048112	ENST00000592141.1:c.207+1G>T	19.37:g.36145572G>T							p.W69L	NM_001863	NP_001854	P14854	CX6B1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		3	368	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		69					B2R5C9|Q6IBL4	Missense_Mutation	SNP	ENST00000592141.1	37	c.206G>T	CCDS12469.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997368	0.93227	.	.	ENSG00000126267	ENST00000246554;ENST00000392201	D	0.91351	-2.83	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95283	0.8388	9	0.72032	D	0.01	-29.7635	15.8518	0.78937	0.0:0.0:1.0:0.0	.	69	P14854	CX6B1_HUMAN	L	69;86	ENSP00000246554:W69L	ENSP00000246554:W69L	W	+	2	0	COX6B1	40837412	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.061000	0.89467	2.818000	0.97014	0.650000	0.86243	TGG		PASS	0.607	COX6B1-004	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459068.3	NM_001863	Missense_Mutation	82	53	82	53	---	---	---	---
ZNF569	148266	broad.mit.edu	37	19	37903520	37903520	+	Missense_Mutation	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:37903520G>C	ENST00000316950.6	-	6	2597	c.2040C>G	c.(2038-2040)caC>caG	p.H680Q	ZNF569_ENST00000392149.2_Missense_Mutation_p.H680Q|ZNF569_ENST00000392150.2_Missense_Mutation_p.H521Q	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	680					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.H680Q(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAATTCTCTGGTGTCTAACAA	0.408																																						uc002ogi.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(2038-2040)CAC>CAG		zinc finger protein 569							106.0	107.0	107.0					19																	37903520		2203	4300	6503	SO:0001583	missense	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903520G>C	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.2040C>G	19.37:g.37903520G>C	ENSP00000325018:p.His680Gln					ZNF569_uc002ogh.2_Missense_Mutation_p.H521Q|ZNF569_uc002ogj.2_Missense_Mutation_p.H704Q	p.H680Q	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2598	-			680			C2H2-type 18.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	c.2040C>G	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036917	0.54896	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.60797	0.16;1.33	4.16	-0.318	0.12728	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35040	N	0.003482	T	0.78848	0.4348	H	0.96080	3.765	0.36080	D	0.842738	D;P	0.89917	1.0;0.941	D;P	0.79784	0.993;0.862	T	0.81182	-0.1049	10	0.87932	D	0	.	7.8887	0.29665	0.472:0.0:0.528:0.0	.	521;680	Q17RR6;Q5MCW4	.;ZN569_HUMAN	Q	680;336;521	ENSP00000325018:H680Q;ENSP00000375993:H521Q	ENSP00000325018:H680Q	H	-	3	2	ZNF569	42595360	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	0.223000	0.17719	0.158000	0.19367	0.563000	0.77884	CAC		PASS	0.408	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		63	150	63	150	---	---	---	---
ARHGEF1	9138	broad.mit.edu	37	19	42410651	42410651	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:42410651A>G	ENST00000354532.3	+	27	2682	c.2534A>G	c.(2533-2535)aAt>aGt	p.N845S	CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.N812S|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.N860S|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.N901S	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	845					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N860S(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GAGGAAGACAATGGGGCGGGG	0.672																																						uc002orx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(2533-2535)AAT>AGT		Rho guanine nucleotide exchange factor 1 isoform							28.0	32.0	31.0					19																	42410651		2199	4296	6495	SO:0001583	missense	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42410651A>G	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2534A>G	19.37:g.42410651A>G	ENSP00000346532:p.Asn845Ser					ARHGEF1_uc002ory.2_Missense_Mutation_p.N812S|ARHGEF1_uc002orz.2_Missense_Mutation_p.N683S|ARHGEF1_uc002osa.2_Missense_Mutation_p.N860S|ARHGEF1_uc002osb.2_Intron|ARHGEF1_uc002osc.2_Intron|ARHGEF1_uc002osd.2_Missense_Mutation_p.N504S|ARHGEF1_uc002ose.2_Missense_Mutation_p.N289S	p.N845S	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	27	2643	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	845					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	c.2534A>G	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	A	0.026	-1.375216	0.01214	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665	T;T;T	0.61274	0.13;0.13;0.12	3.69	-1.42	0.08913	.	.	.	.	.	T	0.24661	0.0598	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.30119	-0.9989	9	0.02654	T	1	.	7.3758	0.26827	0.4451:0.0:0.5549:0.0	.	860;812;845	Q92888-3;Q92888-2;Q92888	.;.;ARHG1_HUMAN	S	845;812;860	ENSP00000346532:N845S;ENSP00000344429:N812S;ENSP00000337261:N860S	ENSP00000337261:N860S	N	+	2	0	ARHGEF1	47102491	0.008000	0.16893	0.825000	0.32803	0.512000	0.34134	0.166000	0.16583	0.009000	0.14813	-0.628000	0.03992	AAT		PASS	0.672	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1	NM_199002		31	45	31	45	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43262165	43262165	+	Missense_Mutation	SNP	A	A	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:43262165A>C	ENST00000306511.4	-	3	795	c.698T>G	c.(697-699)cTg>cGg	p.L233R	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.L233R|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.L111R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	233	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.L233R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GAGGAGATTCAGGGTGAATGG	0.532																																						uc002ouo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(697-699)CTG>CGG		pregnancy specific beta-1-glycoprotein 8 isoform							198.0	208.0	205.0					19																	43262165		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262165A>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.698T>G	19.37:g.43262165A>C	ENSP00000305005:p.Leu233Arg					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.L72R|PSG8_uc002ouh.2_Missense_Mutation_p.L233R|PSG8_uc010ein.2_Missense_Mutation_p.L111R|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.L72R|PSG8_uc002oul.3_Missense_Mutation_p.L233R|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.L233R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	796	-		Prostate(69;0.00899)	233			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.698T>G	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	a	11.74	1.728382	0.30593	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.15718	2.4;2.4;2.4	1.53	1.53	0.23141	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47040	0.1424	H	0.94385	3.53	0.09310	N	1	B;D;D;D	0.89917	0.036;1.0;1.0;1.0	B;D;D;D	0.97110	0.029;1.0;1.0;1.0	T	0.24154	-1.0168	9	0.87932	D	0	.	5.1071	0.14790	1.0:0.0:0.0:0.0	.	111;233;233;233	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	R	233;108;111;45;233	ENSP00000385869:L233R;ENSP00000385081:L111R;ENSP00000305005:L233R	ENSP00000292109:L108R	L	-	2	0	PSG8	47954005	0.011000	0.17503	0.026000	0.17262	0.059000	0.15707	1.050000	0.30404	0.697000	0.31718	0.248000	0.18094	CTG		PASS	0.532	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			207	264	207	264	---	---	---	---
PSG4	5672	broad.mit.edu	37	19	43699232	43699232	+	Silent	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:43699232C>T	ENST00000405312.3	-	4	1140	c.903G>A	c.(901-903)acG>acA	p.T301T	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Silent_p.T208T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	301	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)		p.T301T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TTTCATTTCTCGTGACATTGG	0.478																																						uc002ovy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(901-903)ACG>ACA		pregnancy specific beta-1-glycoprotein 4 isoform							225.0	206.0	213.0					19																	43699232		2202	4295	6497	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43699232C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.903G>A	19.37:g.43699232C>T						PSG6_uc010xwk.1_Intron|PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.T208T|PSG4_uc002ovz.2_Intron	p.T301T	NM_002780	NP_002771	Q00888	PSG4_HUMAN			4	1005	-		Prostate(69;0.00682)	301			Ig-like C2-type 2.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.903G>A	CCDS46093.1																																																																																				PASS	0.478	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		188	254	188	254	---	---	---	---
PPP1R13L	10848	broad.mit.edu	37	19	45899860	45899860	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:45899860C>A	ENST00000418234.2	-	4	733	c.655G>T	c.(655-657)Ggg>Tgg	p.G219W	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G219W	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	219	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G219W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGGAGCTCCCGAAGGCGGAC	0.766																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(655-657)GGG>TGG		protein phosphatase 1, regulatory subunit 13							5.0	7.0	6.0					19																	45899860		1632	3530	5162	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45899860C>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.655G>T	19.37:g.45899860C>A	ENSP00000403902:p.Gly219Trp					PPP1R13L_uc002pbo.2_Missense_Mutation_p.G219W|PPP1R13L_uc002pbp.2_Missense_Mutation_p.G219W	p.G219W	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	732	-		all_neural(266;0.224)|Ovarian(192;0.231)	219			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.655G>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641396	0.47153	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.57752	0.38;0.38	4.51	4.51	0.55191	.	0.699320	0.14220	N	0.333514	T	0.58524	0.2128	N	0.19112	0.55	0.21184	N	0.999764	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	T	0.52801	-0.8527	10	0.72032	D	0.01	.	13.0752	0.59083	0.0:1.0:0.0:0.0	.	219;219	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	W	219	ENSP00000403902:G219W;ENSP00000354218:G219W	ENSP00000354218:G219W	G	-	1	0	PPP1R13L	50591700	0.997000	0.39634	0.822000	0.32727	0.249000	0.25844	4.215000	0.58534	2.226000	0.72624	0.462000	0.41574	GGG		PASS	0.766	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		13	12	13	12	---	---	---	---
HIF3A	64344	broad.mit.edu	37	19	46842791	46842791	+	Missense_Mutation	SNP	C	C	A	rs375091686		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:46842791C>A	ENST00000377670.4	+	15	1953	c.1922C>A	c.(1921-1923)cCc>cAc	p.P641H	HIF3A_ENST00000339613.2_Missense_Mutation_p.P585H|HIF3A_ENST00000300862.3_Missense_Mutation_p.P639H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.P572H	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	641					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P639H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GGCCTGGGCCCCTCACTGCTC	0.527																																						uc002peh.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1921-1923)CCC>CAC		hypoxia inducible factor 3, alpha subunit							70.0	78.0	75.0					19																	46842791		2203	4300	6503	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46842791C>A	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1922C>A	19.37:g.46842791C>A	ENSP00000366898:p.Pro641His					HIF3A_uc002pek.2_Missense_Mutation_p.P585H|HIF3A_uc010xxy.1_Missense_Mutation_p.P572H|HIF3A_uc002pel.2_Missense_Mutation_p.P639H	p.P641H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	15	1951	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	641					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1922C>A	CCDS12681.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618145	0.46736	.	.	ENSG00000124440	ENST00000377670;ENST00000244303;ENST00000339613;ENST00000300862	T;T;T;T	0.67171	0.54;-0.25;0.42;0.54	3.47	3.47	0.39725	.	0.965934	0.08445	N	0.944866	T	0.65903	0.2736	N	0.19112	0.55	0.31036	N	0.716884	D;D;D	0.71674	0.998;0.995;0.992	P;P;P	0.57468	0.75;0.821;0.667	T	0.63310	-0.6666	10	0.59425	D	0.04	.	10.6137	0.45436	0.0:1.0:0.0:0.0	.	572;639;641	B4DNA2;Q9Y2N7-2;Q9Y2N7	.;.;HIF3A_HUMAN	H	641;572;585;639	ENSP00000366898:P641H;ENSP00000244303:P572H;ENSP00000341877:P585H;ENSP00000300862:P639H	ENSP00000244303:P572H	P	+	2	0	HIF3A	51534631	0.991000	0.36638	0.916000	0.36221	0.544000	0.35116	3.215000	0.51169	1.937000	0.56155	0.561000	0.74099	CCC		PASS	0.527	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3			84	74	84	74	---	---	---	---
SPHK2	56848	broad.mit.edu	37	19	49132810	49132810	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:49132810G>A	ENST00000245222.4	+	7	2111	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	SPHK2_ENST00000600537.1_Missense_Mutation_p.R523H|SPHK2_ENST00000599748.1_Missense_Mutation_p.R546H|SPHK2_ENST00000598088.1_Missense_Mutation_p.R582H|SPHK2_ENST00000443164.1_Missense_Mutation_p.R644H|SPHK2_ENST00000340932.3_Missense_Mutation_p.R544H|SPHK2_ENST00000599029.1_Missense_Mutation_p.R546H	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	582					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.R582H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCGCTGCTGCGCCTTTTCTTG	0.692																																						uc002pjr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1744-1746)CGC>CAC		sphingosine kinase 2							21.0	18.0	19.0					19																	49132810		2195	4294	6489	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132810G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1745G>A	19.37:g.49132810G>A	ENSP00000245222:p.Arg582His					SPHK2_uc010xzt.1_Missense_Mutation_p.R523H|SPHK2_uc002pjs.2_Missense_Mutation_p.R582H|SPHK2_uc002pjt.2_Missense_Mutation_p.R376H|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Missense_Mutation_p.R546H|SPHK2_uc002pjw.2_Missense_Mutation_p.R644H	p.R582H	NM_020126	NP_064511	Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	7	2111	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	582					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.1745G>A	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521592	0.85600	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	T;T;T	0.15718	2.4;2.4;2.4	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.80508	2.5	0.43890	D	0.996514	D;P;D	0.89917	1.0;0.945;1.0	D;B;D	0.85130	0.996;0.352;0.997	T	0.42327	-0.9458	10	0.56958	D	0.05	-25.9516	15.457	0.75325	0.0:0.0:1.0:0.0	.	523;644;582	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	H	582;555;544;644	ENSP00000245222:R582H;ENSP00000341091:R544H;ENSP00000413369:R644H	ENSP00000245222:R582H	R	+	2	0	SPHK2	53824622	0.998000	0.40836	0.966000	0.40874	0.567000	0.35839	4.991000	0.63883	2.594000	0.87642	0.555000	0.69702	CGC		PASS	0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			3	19	3	19	---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54140202	54140202	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:54140202G>T	ENST00000376650.1	+	3	587	c.536G>T	c.(535-537)gGc>gTc	p.G179V		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G179V(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTCCATTCTGGCTCTCCTGCC	0.443																																						uc002qcf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GGC>GTC		divergent-paired related homeobox							113.0	110.0	111.0					19																	54140202		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140202G>T		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.536G>T	19.37:g.54140202G>T	ENSP00000365838:p.Gly179Val						p.G179V	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	587	+	Ovarian(34;0.19)		179						Missense_Mutation	SNP	ENST00000376650.1	37	c.536G>T	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	g	3.821	-0.037828	0.07497	.	.	ENSG00000204595	ENST00000376650	D	0.94862	-3.54	1.45	-2.39	0.06602	.	.	.	.	.	D	0.83385	0.5243	N	0.08118	0	0.09310	N	1	B	0.21147	0.052	B	0.08055	0.003	T	0.70695	-0.4801	9	0.54805	T	0.06	.	3.0073	0.06033	0.3468:0.2628:0.3903:0.0	.	179	A6NFQ7	DPRX_HUMAN	V	179	ENSP00000365838:G179V	ENSP00000365838:G179V	G	+	2	0	DPRX	58832014	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.020000	0.13466	-0.872000	0.04037	-1.240000	0.01540	GGC		PASS	0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		62	130	62	130	---	---	---	---
KIR2DL3	3804	broad.mit.edu	37	19	55263688	55263688	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:55263688G>A	ENST00000342376.3	+	7	872	c.841G>A	c.(841-843)Gag>Aag	p.E281K	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	281					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.E281K(1)		breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		AATGGACCAAGAGCCTGCAGG	0.512																																						uc002qgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(841-843)GAG>AAG		killer cell immunoglobulin-like receptor, two							128.0	136.0	133.0					19																	55263688		1988	3967	5955	SO:0001583	missense	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55263688G>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.841G>A	19.37:g.55263688G>A	ENSP00000342215:p.Glu281Lys					KIR2DS4_uc010yfj.1_5'Flank|KIR2DL3_uc002qgx.2_Missense_Mutation_p.E281K|KIR2DL3_uc002qgy.2_Missense_Mutation_p.E183K|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_5'Flank	p.E281K	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	859	+			281			Cytoplasmic (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.841G>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284915	0.40394	.	.	ENSG00000243772	ENST00000342376	T	0.00475	7.16	0.909	0.909	0.19332	.	.	.	.	.	T	0.01454	0.0047	M	0.91354	3.2	0.09310	N	1	P;P;P	0.49783	0.927;0.928;0.928	D;P;P	0.67725	0.953;0.682;0.682	T	0.35076	-0.9803	9	0.87932	D	0	.	5.1887	0.15197	0.0:0.0:1.0:0.0	.	183;281;281	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	K	281	ENSP00000342215:E281K	ENSP00000342215:E281K	E	+	1	0	KIR2DL3	59955500	0.015000	0.18098	0.005000	0.12908	0.040000	0.13550	0.873000	0.28052	0.786000	0.33708	0.298000	0.19748	GAG		PASS	0.512	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1			72	144	72	144	---	---	---	---
FCAR	2204	broad.mit.edu	37	19	55401161	55401161	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:55401161C>T	ENST00000355524.3	+	5	806	c.796C>T	c.(796-798)Ccg>Tcg	p.P266S	FCAR_ENST00000391726.3_Missense_Mutation_p.P158S|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391725.3_Missense_Mutation_p.P244S|FCAR_ENST00000391724.3_Missense_Mutation_p.P232S|CTB-61M7.2_ENST00000594721.1_lincRNA|FCAR_ENST00000353758.4_Missense_Mutation_p.P157S|FCAR_ENST00000359272.4_Missense_Mutation_p.P254S|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000345937.4_Missense_Mutation_p.P170S	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	266					immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.P266S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGTGGCTGAACCGAGCTGGAG	0.557																																						uc002qhr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(796-798)CCG>TCG		Fc alpha receptor isoform a precursor							168.0	168.0	168.0					19																	55401161		2203	4300	6503	SO:0001583	missense	2204				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	g.chr19:55401161C>T	X54150	CCDS12907.1, CCDS12908.1, CCDS12909.1, CCDS12910.1, CCDS42622.1, CCDS42623.1, CCDS42624.1, CCDS42625.1, CCDS46180.1	19q13.42	2013-01-29			ENSG00000186431	ENSG00000186431		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3608	protein-coding gene	gene with protein product		147045				1577457	Standard	NM_133269		Approved	CD89	uc002qhr.1	P24071	OTTHUMG00000065936	ENST00000355524.3:c.796C>T	19.37:g.55401161C>T	ENSP00000347714:p.Pro266Ser					FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.P217S|FCAR_uc010esi.1_Missense_Mutation_p.P143S|FCAR_uc002qhu.1_Missense_Mutation_p.P170S|FCAR_uc002qhv.1_Missense_Mutation_p.P244S|FCAR_uc002qhw.1_Missense_Mutation_p.P254S|FCAR_uc002qhx.1_Missense_Mutation_p.P158S|FCAR_uc002qhy.1_Missense_Mutation_p.P232S|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.P157S	p.P266S	NM_002000	NP_001991	P24071	FCAR_HUMAN		GBM - Glioblastoma multiforme(193;0.0443)	5	993	+			266			Cytoplasmic (Potential).		Q13603|Q13604|Q15727|Q15728|Q1AJL7|Q1AJL8|Q1AJL9|Q53X38|Q53X39|Q92587|Q92588|Q92590|Q92592|Q92593|Q9UEK0	Missense_Mutation	SNP	ENST00000355524.3	37	c.796C>T	CCDS12907.1	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030095	0.19512	.	.	ENSG00000186431	ENST00000391726;ENST00000355524;ENST00000391725;ENST00000345937;ENST00000353758;ENST00000359272;ENST00000391724	T;T;T;T;T;T;T	0.03035	4.07;6.89;6.67;5.07;6.63;6.75;6.53	2.95	-0.976	0.10286	.	.	.	.	.	T	0.01092	0.0036	N	0.01168	-0.975	0.09310	N	1	B;B;B;B;B;B;B	0.32829	0.294;0.085;0.218;0.001;0.049;0.386;0.002	B;B;B;B;B;B;B	0.28139	0.038;0.026;0.086;0.005;0.026;0.086;0.005	T	0.46289	-0.9202	9	0.15499	T	0.54	.	3.8311	0.08874	0.4607:0.4088:0.0:0.1305	.	157;232;158;254;244;170;266	Q92592;Q92593;Q92587;Q9UEK0;Q53X39;P24071-3;P24071	.;.;.;.;.;.;FCAR_HUMAN	S	158;266;244;170;157;254;232	ENSP00000375606:P158S;ENSP00000347714:P266S;ENSP00000375605:P244S;ENSP00000338257:P170S;ENSP00000338058:P157S;ENSP00000352218:P254S;ENSP00000375604:P232S	ENSP00000338257:P170S	P	+	1	0	FCAR	60092973	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.240000	0.08952	-0.086000	0.12550	0.557000	0.71058	CCG		PASS	0.557	FCAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141243.1	NM_002000		147	152	147	152	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57641067	57641067	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:57641067T>C	ENST00000254181.4	+	4	1478	c.1024T>C	c.(1024-1026)Tgt>Cgt	p.C342R	USP29_ENST00000598197.1_Missense_Mutation_p.C342R	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	342	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.C342R(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAAGATTTCTGTAGTACAAA	0.383																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1024-1026)TGT>CGT		ubiquitin specific peptidase 29							73.0	75.0	75.0					19																	57641067		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641067T>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1024T>C	19.37:g.57641067T>C	ENSP00000254181:p.Cys342Arg						p.C342R	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1380	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	342						Missense_Mutation	SNP	ENST00000254181.4	37	c.1024T>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	5.888	0.347882	0.11126	.	.	ENSG00000131864	ENST00000254181	T	0.73681	-0.77	2.78	1.75	0.24633	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.359491	0.18926	N	0.127348	T	0.54367	0.1854	N	0.21194	0.64	0.09310	N	0.999999	B	0.20164	0.042	B	0.25405	0.06	T	0.34229	-0.9837	10	0.25751	T	0.34	-0.9921	3.9765	0.09476	0.0:0.1801:0.0:0.8199	.	342	Q9HBJ7	UBP29_HUMAN	R	342	ENSP00000254181:C342R	ENSP00000254181:C342R	C	+	1	0	USP29	62332879	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.352000	0.20113	0.474000	0.27392	0.533000	0.62120	TGT		PASS	0.383	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			99	87	99	87	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58099911	58099911	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr19:58099911G>T	ENST00000597850.1	+	3	292	c.77G>T	c.(76-78)tGt>tTt	p.C26F	ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.C13F	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	26					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.C26F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGACAGGGCTGTGTGACCTTT	0.522																																						uc002qpg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(76-78)TGT>TTT		zinc finger protein interacting with K protein							271.0	211.0	231.0					19																	58099911		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58099911G>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.77G>T	19.37:g.58099911G>T	ENSP00000472867:p.Cys26Phe					ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_5'UTR|ZIK1_uc002qpi.2_Missense_Mutation_p.C13F|ZIK1_uc002qpj.2_Intron	p.C26F	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	174	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	26					O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.77G>T	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	g	11.38	1.620441	0.28801	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.00760	5.73	3.3	-6.04	0.02178	Krueppel-associated box (1);	.	.	.	.	T	0.00468	0.0015	N	0.16602	0.42	0.09310	N	1	B;B	0.20671	0.047;0.019	B;B	0.14023	0.009;0.01	T	0.45629	-0.9248	9	0.10111	T	0.7	.	6.4053	0.21660	0.4099:0.3957:0.1944:0.0	.	13;26	F5H435;Q3SY52	.;ZIK1_HUMAN	F	13;7;26	ENSP00000438487:C13F	ENSP00000303820:C26F	C	+	2	0	ZIK1	62791723	0.000000	0.05858	0.002000	0.10522	0.982000	0.71751	-0.911000	0.04050	-0.766000	0.04639	-0.417000	0.06048	TGT		PASS	0.522	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		74	112	74	112	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A	rs200513155		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M|SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(688-690)GTG>ATG		signal-regulatory protein alpha precursor							66.0	57.0	60.0					20																	1902292		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902292G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.688G>A	20.37:g.1902292G>A	ENSP00000351621:p.Val230Met					SIRPA_uc010zps.1_Missense_Mutation_p.V210M|SIRPA_uc002wfr.2_Missense_Mutation_p.V230M|SIRPA_uc002wfs.2_Missense_Mutation_p.V230M|SIRPA_uc002wft.2_Missense_Mutation_p.V230M	p.V230M	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1048	+			230			Ig-like C1-type 1.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.688G>A	CCDS13022.1	23	0.010531135531135532	4	0.008130081300813009	2	0.0055248618784530384	6	0.01048951048951049	11	0.014511873350923483	G	19.90	3.912586	0.72983	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.13538	2.58;2.58;2.58	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.115071	0.38720	N	0.001599	T	0.38081	0.1027	H	0.95294	3.65	0.45634	D	0.99856	D;D;D	0.69078	0.993;0.984;0.997	D;P;P	0.62955	0.909;0.562;0.878	T	0.57556	-0.7791	10	0.66056	D	0.02	.	13.7542	0.62926	0.0:0.0:1.0:0.0	.	210;230;230	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	M	230	ENSP00000382941:V230M;ENSP00000348307:V230M;ENSP00000351621:V230M	ENSP00000348307:V230M	V	+	1	0	SIRPA	1850292	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.834000	0.39171	2.718000	0.92993	0.650000	0.86243	GTG		PASS	0.612	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		5	94	5	94	---	---	---	---
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	uc002wfq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(697-699)GTC>ATC		signal-regulatory protein alpha precursor							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_uc010zps.1_Missense_Mutation_p.V213I|SIRPA_uc002wfr.2_Missense_Mutation_p.V233I|SIRPA_uc002wfs.2_Missense_Mutation_p.V233I|SIRPA_uc002wft.2_Missense_Mutation_p.V233I	p.V233I	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	4	1057	+			233			Ig-like C1-type 1.|Extracellular (Potential).		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		PASS	0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		5	92	5	92	---	---	---	---
PCSK2	5126	broad.mit.edu	37	20	17338980	17338980	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:17338980G>T	ENST00000262545.2	+	3	606	c.291G>T	c.(289-291)atG>atT	p.M97I	PCSK2_ENST00000536609.1_Missense_Mutation_p.M62I|PCSK2_ENST00000377899.1_Missense_Mutation_p.M78I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	97					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.M97I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGTAAAGATGGCTTTGCAGC	0.373																																						uc002wpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(289-291)ATG>ATT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						148.0	120.0	130.0					20																	17338980		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17338980G>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.291G>T	20.37:g.17338980G>T	ENSP00000262545:p.Met97Ile					PCSK2_uc002wpl.2_Missense_Mutation_p.M78I|PCSK2_uc010zrm.1_Missense_Mutation_p.M62I	p.M97I	NM_002594	NP_002585	P16519	NEC2_HUMAN			3	611	+			97					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.291G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	9.165	1.019664	0.19355	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.70631	1.63;1.63;-0.5	6.17	4.2	0.49525	Proteinase inhibitor, propeptide (1);	0.320980	0.40469	N	0.001081	T	0.48370	0.1496	N	0.14661	0.345	0.28720	N	0.903065	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.33599	-0.9862	10	0.24483	T	0.36	-11.8214	6.4758	0.22034	0.1562:0.1511:0.6927:0.0	.	62;97	B4DFQ3;P16519	.;NEC2_HUMAN	I	78;97;62	ENSP00000367131:M78I;ENSP00000262545:M97I;ENSP00000437458:M62I	ENSP00000262545:M97I	M	+	3	0	PCSK2	17286980	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	0.788000	0.26872	0.904000	0.36572	0.655000	0.94253	ATG		PASS	0.373	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	68	6	68	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17587719	17587719	+	Missense_Mutation	SNP	T	T	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:17587719T>G	ENST00000246069.7	+	4	772	c.426T>G	c.(424-426)gaT>gaG	p.D142E	DSTN_ENST00000474024.1_Missense_Mutation_p.D125E	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	142	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)		p.D142E(1)		endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GACCAGAAGATCTCAATCGGG	0.378																																						uc002wpr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(424-426)GAT>GAG		destrin isoform a							139.0	126.0	130.0					20																	17587719		2203	4300	6503	SO:0001583	missense	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17587719T>G	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.426T>G	20.37:g.17587719T>G	ENSP00000246069:p.Asp142Glu					DSTN_uc002wpq.2_Missense_Mutation_p.D125E|DSTN_uc010gck.2_Missense_Mutation_p.D125E	p.D142E	NM_006870	NP_006861	P60981	DEST_HUMAN			4	681	+			142			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Missense_Mutation	SNP	ENST00000246069.7	37	c.426T>G	CCDS13127.1	.	.	.	.	.	.	.	.	.	.	T	11.72	1.724239	0.30593	.	.	ENSG00000125868	ENST00000246069;ENST00000543261	T;T	0.33654	1.4;1.4	6.02	3.03	0.35002	Actin-binding, cofilin/tropomyosin type (3);	0.047832	0.85682	D	0.000000	T	0.14313	0.0346	N	0.04880	-0.145	0.39186	D	0.962871	B	0.12630	0.006	B	0.18263	0.021	T	0.15263	-1.0443	10	0.05620	T	0.96	-14.3452	8.7548	0.34639	0.0:0.7043:0.0:0.2957	.	142	P60981	DEST_HUMAN	E	142;125	ENSP00000246069:D142E;ENSP00000444808:D125E	ENSP00000246069:D142E	D	+	3	2	DSTN	17535719	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	0.229000	0.17833	0.872000	0.35775	-0.242000	0.12053	GAT		PASS	0.378	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		5	164	5	164	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23731348	23731348	+	Silent	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:23731348G>T	ENST00000304749.2	-	1	226	c.156C>A	c.(154-156)atC>atA	p.I52I	CST1_ENST00000398402.1_Silent_p.I52I	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	52					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.I52I(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TATACTCGCTGATGGCGAAGT	0.572																																						uc002wtp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(154-156)ATC>ATA		cystatin SN precursor							174.0	142.0	153.0					20																	23731348		2203	4300	6503	SO:0001819	synonymous_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23731348G>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.156C>A	20.37:g.23731348G>T							p.I52I	NM_001898	NP_001889	P01037	CYTN_HUMAN			1	227	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		52					Q96LE6|Q9UCQ6	Silent	SNP	ENST00000304749.2	37	c.156C>A	CCDS13160.1																																																																																				PASS	0.572	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		90	59	90	59	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31017235	31017235	+	Splice_Site	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:31017235G>A	ENST00000375687.4	+	7	989		c.e7+1		ASXL1_ENST00000306058.5_Splice_Site|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCTGCATCAGGTATGTGTAAA	0.512			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Unknown(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.e6+1		additional sex combs like 1 isoform 1							85.0	82.0	83.0					20																	31017235		2203	4300	6503	SO:0001630	splice_region_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31017235G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.565+1G>A	20.37:g.31017235G>A						ASXL1_uc010geb.2_Splice_Site_p.G131_splice	p.G189_splice	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			6	991	+								B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Splice_Site	SNP	ENST00000375687.4	37	c.565_splice	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.748613	0.89753	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9513	0.89053	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL1	30480896	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.625000	0.90965	2.546000	0.85860	0.561000	0.74099	.		PASS	0.512	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	Intron	15	64	15	64	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36641556	36641556	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:36641556G>A	ENST00000373448.2	-	3	901	c.663C>T	c.(661-663)atC>atT	p.I221I	TTI1_ENST00000449821.1_Silent_p.I221I|TTI1_ENST00000373447.3_Silent_p.I221I|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	221					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.I221I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGTCTCCTGTGATAAGCCTGG	0.423																																						uc002xhl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(661-663)ATC>ATT		hypothetical protein LOC9675							115.0	113.0	114.0					20																	36641556		2203	4300	6503	SO:0001819	synonymous_variant	9675						binding	g.chr20:36641556G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.663C>T	20.37:g.36641556G>A						KIAA0406_uc002xhm.2_Silent_p.I221I	p.I221I	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	872	-		Myeloproliferative disorder(115;0.00874)	221					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	c.663C>T	CCDS13300.1																																																																																				PASS	0.423	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		22	148	22	148	---	---	---	---
BPI	671	broad.mit.edu	37	20	36953175	36953175	+	Splice_Site	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:36953175G>C	ENST00000262865.4	+	9	1034		c.e9-1		CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_Splice_Site	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein						defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.?(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTTGCTACAGATTCCAAAGG	0.507																																						uc002xib.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e9-1		bactericidal/permeability-increasing protein							110.0	105.0	107.0					20																	36953175		2203	4300	6503	SO:0001630	splice_region_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36953175G>C	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.946-1G>C	20.37:g.36953175G>C							p.I316_splice	NM_001725	NP_001716	P17213	BPI_HUMAN			9	1008	+		Myeloproliferative disorder(115;0.00878)						B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Splice_Site	SNP	ENST00000262865.4	37	c.946_splice	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	g	18.33	3.600561	0.66332	.	.	ENSG00000101425	ENST00000262865;ENST00000417318	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6981	0.69136	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPI	36386589	1.000000	0.71417	0.334000	0.25495	0.688000	0.40055	5.472000	0.66768	2.405000	0.81733	0.651000	0.88453	.		PASS	0.507	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725	Intron	73	33	73	33	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	41385134	41385134	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:41385134C>T	ENST00000373187.1	-	6	826	c.827G>A	c.(826-828)gGt>gAt	p.G276D	PTPRT_ENST00000373201.1_Missense_Mutation_p.G276D|PTPRT_ENST00000356100.2_Missense_Mutation_p.G276D|PTPRT_ENST00000373193.3_Missense_Mutation_p.G276D|PTPRT_ENST00000373184.1_Missense_Mutation_p.G276D|PTPRT_ENST00000373198.4_Missense_Mutation_p.G276D|PTPRT_ENST00000373190.1_Missense_Mutation_p.G276D			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	276	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.G276D(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTTGGACACACCAGACCCACC	0.582																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(826-828)GGT>GAT		protein tyrosine phosphatase, receptor type, T							64.0	63.0	63.0					20																	41385134		2154	4253	6407	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385134C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.827G>A	20.37:g.41385134C>T	ENSP00000362283:p.Gly276Asp					PTPRT_uc010ggj.2_Missense_Mutation_p.G276D	p.G276D	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1011	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	276			Extracellular (Potential).|Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.827G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722266	0.89298	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.34275	1.4;1.39;1.39;1.37;1.38;1.39;1.39	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.116020	0.64402	D	0.000019	T	0.61375	0.2342	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.62305	-0.6882	10	0.87932	D	0	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	276;276	O14522-1;O14522	.;PTPRT_HUMAN	D	276	ENSP00000362286:G276D;ENSP00000362283:G276D;ENSP00000362289:G276D;ENSP00000348408:G276D;ENSP00000362294:G276D;ENSP00000362280:G276D;ENSP00000362297:G276D	ENSP00000348408:G276D	G	-	2	0	PTPRT	40818548	1.000000	0.71417	0.869000	0.34112	0.576000	0.36127	7.487000	0.81328	2.720000	0.93068	0.655000	0.94253	GGT		PASS	0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			3	27	3	27	---	---	---	---
DNTTIP1	116092	broad.mit.edu	37	20	44424038	44424038	+	Missense_Mutation	SNP	G	G	A	rs139853820	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:44424038G>A	ENST00000372622.3	+	4	396	c.328G>A	c.(328-330)Gca>Aca	p.A110T		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	110						nucleolus (GO:0005730)|nucleus (GO:0005634)		p.A110T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GGAGGTGGACGCAGAGCAGCT	0.562																																						uc002xpk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(328-330)GCA>ACA		terminal deoxynucleotidyltransferase interacting			THR/ALA	1,4405		0,1,2202	54.0	37.0	42.0		328	1.4	0.1	20	dbSNP_134	42	5,8595		0,5,4295	yes	missense	DNTTIP1	NM_052951.2	58	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	benign	110/330	44424038	6,13000	2203	4300	6503	SO:0001583	missense	116092					nucleus		g.chr20:44424038G>A	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.328G>A	20.37:g.44424038G>A	ENSP00000361705:p.Ala110Thr						p.A110T	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			4	396	+		Myeloproliferative disorder(115;0.0122)	110					B2RA18|Q96DE3|Q9BQP2|Q9H148	Missense_Mutation	SNP	ENST00000372622.3	37	c.328G>A	CCDS13369.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	-	9.572	1.121409	0.20877	2.27E-4	5.81E-4	ENSG00000101457	ENST00000372622;ENST00000449078;ENST00000415790	T;T	0.40476	1.03;1.07	5.47	1.42	0.22433	.	0.203560	0.51477	N	0.000090	T	0.10208	0.0250	N	0.00841	-1.15	0.19300	N	0.99997	B	0.20261	0.043	B	0.08055	0.003	T	0.37407	-0.9707	10	0.02654	T	1	-1.3483	6.8324	0.23917	0.2827:0.1736:0.5438:0.0	.	110	Q9H147	TDIF1_HUMAN	T	110;105;70	ENSP00000361705:A110T;ENSP00000392509:A70T	ENSP00000361705:A110T	A	+	1	0	DNTTIP1	43857445	0.019000	0.18553	0.142000	0.22268	0.878000	0.50629	0.148000	0.16224	-0.037000	0.13646	-0.829000	0.03081	GCA		PASS	0.562	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		13	7	13	7	---	---	---	---
PCIF1	63935	broad.mit.edu	37	20	44569577	44569577	+	Splice_Site	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:44569577G>A	ENST00000372409.3	+	6	881	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	173					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.E173K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACGACCCACTGAGTGAGTCCC	0.597																																						uc002xqs.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(517-519)GAG>AAG		phosphorylated CTD interacting factor 1							79.0	67.0	71.0					20																	44569577		2203	4300	6503	SO:0001630	splice_region_variant	63935					nucleus		g.chr20:44569577G>A	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.518+1G>A	20.37:g.44569577G>A							p.E173K	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN			6	831	+			173					E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	ENST00000372409.3	37	c.517G>A	CCDS13388.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.158970	0.38119	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.12	5.12	0.69794	.	0.196771	0.44483	D	0.000459	T	0.42988	0.1227	N	0.25647	0.755	0.39437	D	0.967177	B	0.22604	0.072	B	0.16289	0.015	T	0.33266	-0.9875	9	0.12766	T	0.61	-22.016	15.8695	0.79101	0.0:0.0:1.0:0.0	.	173	Q9H4Z3	PCIF1_HUMAN	K	173	.	ENSP00000361486:E173K	E	+	1	0	PCIF1	44002984	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.179000	0.71974	2.664000	0.90586	0.655000	0.94253	GAG		PASS	0.597	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104	Missense_Mutation	25	63	25	63	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47307609	47307609	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:47307609G>A	ENST00000371941.3	-	9	1084	c.1062C>T	c.(1060-1062)acC>acT	p.T354T	PREX1_ENST00000396220.1_Silent_p.T354T	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	354	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T354T(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CGTTGGTGACGGTATAGCCGT	0.567																																						uc002xtw.1																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(1060-1062)ACC>ACT		phosphatidylinositol-3,4,							156.0	118.0	130.0					20																	47307609		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47307609G>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1062C>T	20.37:g.47307609G>A							p.T354T	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		9	1085	-			354			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.1062C>T	CCDS13410.1																																																																																				PASS	0.567	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		24	80	24	80	---	---	---	---
LSM14B	149986	broad.mit.edu	37	20	60701381	60701381	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr20:60701381G>T	ENST00000279068.6	+	3	473	c.313G>T	c.(313-315)Gcc>Tcc	p.A105S	LSM14B_ENST00000370915.1_Missense_Mutation_p.A105S|LSM14B_ENST00000253001.4_Missense_Mutation_p.A105S	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	105					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.A105S(2)		endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TTCTGCCTCCGCCTCGCCCTT	0.662																																						uc010gjy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(313-315)GCC>TCC		LSM14 homolog B							66.0	70.0	69.0					20																	60701381		2137	4232	6369	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701381G>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.313G>T	20.37:g.60701381G>T	ENSP00000279068:p.Ala105Ser					LSM14B_uc002ybt.2_Missense_Mutation_p.A105S|LSM14B_uc010gjx.1_Missense_Mutation_p.A131S|LSM14B_uc002ybv.2_Missense_Mutation_p.A105S|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	p.A105S	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	519	+	Breast(26;3.97e-09)		105					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.313G>T	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993116	0.19043	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.47869	0.83;0.84;0.98	5.42	2.02	0.26589	.	0.848322	0.10757	N	0.637597	T	0.17450	0.0419	N	0.03324	-0.35	0.09310	N	1	B;B;B	0.29270	0.007;0.019;0.24	B;B;B	0.26864	0.004;0.009;0.074	T	0.27606	-1.0069	10	0.06365	T	0.9	.	4.2081	0.10498	0.2172:0.0:0.4812:0.3016	.	105;131;105	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	S	105;105;105;131;105	ENSP00000279068:A105S;ENSP00000253001:A105S;ENSP00000383172:A131S	ENSP00000253001:A105S	A	+	1	0	LSM14B	60134776	0.288000	0.24324	0.938000	0.37757	0.990000	0.78478	0.488000	0.22371	1.276000	0.44395	0.511000	0.50034	GCC		PASS	0.662	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		30	14	30	14	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22707972	22707972	+	Missense_Mutation	SNP	C	C	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr21:22707972C>G	ENST00000400546.1	+	7	1134	c.885C>G	c.(883-885)ttC>ttG	p.F295L	NCAM2_ENST00000284894.7_Missense_Mutation_p.F153L|NCAM2_ENST00000535285.1_Missense_Mutation_p.F320L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	295	Ig-like C2-type 3.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F295L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGCAAGCTTTCCTCCAAGTCT	0.373																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(883-885)TTC>TTG		neural cell adhesion molecule 2 precursor							73.0	70.0	71.0					21																	22707972		1898	4118	6016	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22707972C>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.885C>G	21.37:g.22707972C>G	ENSP00000383392:p.Phe295Leu					NCAM2_uc011acb.1_Missense_Mutation_p.F153L|NCAM2_uc011acc.1_Missense_Mutation_p.F320L	p.F295L	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	7	1134	+		Lung NSC(9;0.195)	295			Ig-like C2-type 3.|Extracellular (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.885C>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289072	0.10513	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.66460	-0.21;-0.21;-0.21	5.17	1.94	0.25998	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.146500	0.64402	N	0.000006	T	0.43366	0.1244	N	0.17631	0.505	0.58432	D	0.999994	B;P;B	0.40834	0.014;0.73;0.089	B;B;B	0.39379	0.02;0.298;0.016	T	0.28933	-1.0028	10	0.08599	T	0.76	-8.8994	7.2154	0.25957	0.0:0.5676:0.0:0.4324	.	320;153;295	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	L	295;153;320	ENSP00000383392:F295L;ENSP00000284894:F153L;ENSP00000441887:F320L	ENSP00000284894:F153L	F	+	3	2	NCAM2	21629843	0.683000	0.27633	0.901000	0.35422	0.399000	0.30720	-0.404000	0.07205	0.058000	0.16222	0.460000	0.39030	TTC		PASS	0.373	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		11	30	11	30	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22910202	22910202	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr21:22910202C>A	ENST00000400546.1	+	18	2687	c.2438C>A	c.(2437-2439)gCt>gAt	p.A813D	NCAM2_ENST00000284894.7_Missense_Mutation_p.A671D	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	813					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A813D(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGGAAAGAAGCTCTAAATCCA	0.328																																						uc002yld.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2437-2439)GCT>GAT		neural cell adhesion molecule 2 precursor							59.0	59.0	59.0					21																	22910202		1808	4062	5870	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22910202C>A		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2438C>A	21.37:g.22910202C>A	ENSP00000383392:p.Ala813Asp					NCAM2_uc011acb.1_Missense_Mutation_p.A671D	p.A813D	NM_004540	NP_004531	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	18	2687	+		Lung NSC(9;0.195)	813			Cytoplasmic (Potential).		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2438C>A	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	7.648	0.682208	0.14907	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.39787	1.06;1.06	5.86	1.99	0.26369	.	0.277219	0.40908	D	0.000991	T	0.21307	0.0513	N	0.14661	0.345	0.80722	D	1	B;B	0.27559	0.181;0.181	B;B	0.28638	0.092;0.057	T	0.04347	-1.0958	10	0.16420	T	0.52	-8.486	7.3632	0.26758	0.0:0.3903:0.0:0.6097	.	671;813	B7Z5K2;O15394	.;NCAM2_HUMAN	D	813;671	ENSP00000383392:A813D;ENSP00000284894:A671D	ENSP00000284894:A671D	A	+	2	0	NCAM2	21832073	0.904000	0.30761	0.594000	0.28785	0.988000	0.76386	1.306000	0.33505	0.445000	0.26639	-0.438000	0.05819	GCT		PASS	0.328	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		69	39	69	39	---	---	---	---
PFKL	5211	broad.mit.edu	37	21	45738464	45738464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr21:45738464G>T	ENST00000349048.4	+	10	1103	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*	PFKL_ENST00000403390.1_Nonsense_Mutation_p.E397*	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	350	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)	p.E397*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCCCCTCATGGAGTGCGTGCA	0.701																																						uc002zel.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1048-1050)GAG>TAG		liver phosphofructokinase							45.0	47.0	46.0					21																	45738464		2201	4299	6500	SO:0001587	stop_gained	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45738464G>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1048G>T	21.37:g.45738464G>T	ENSP00000269848:p.Glu350*					PFKL_uc002zek.2_Nonsense_Mutation_p.E397*|PFKL_uc002zem.2_5'Flank|PFKL_uc002zen.2_5'Flank	p.E350*	NM_002626	NP_002617	P17858	K6PL_HUMAN		Colorectal(79;0.0811)	10	1107	+			350					Q96A64|Q96IH4|Q9BR91	Nonsense_Mutation	SNP	ENST00000349048.4	37	c.1048G>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	37	6.373798	0.97515	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-43.78	16.5483	0.84457	0.0:0.0:1.0:0.0	.	.	.	.	X	350;143;397	.	ENSP00000269848:E350X	E	+	1	0	PFKL	44562892	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.385000	0.97223	2.185000	0.69588	0.313000	0.20887	GAG		PASS	0.701	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			38	11	38	11	---	---	---	---
KRTAP10-1	386677	broad.mit.edu	37	21	45959214	45959214	+	Missense_Mutation	SNP	G	G	C	rs376945481		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr21:45959214G>C	ENST00000400375.1	-	1	864	c.820C>G	c.(820-822)Cgc>Ggc	p.R274G	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	274						keratin filament (GO:0045095)		p.R274G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CACGCGGGGCGGCAGAGGAGG	0.731																																						uc002zfh.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(820-822)CGC>GGC		keratin associated protein 10-1							20.0	26.0	24.0					21																	45959214		2191	4274	6465	SO:0001583	missense	386677					keratin filament		g.chr21:45959214G>C	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.820C>G	21.37:g.45959214G>C	ENSP00000383226:p.Arg274Gly					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.R274G	NM_198691	NP_941964	P60331	KR101_HUMAN			1	865	-			274					Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.820C>G	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	0.908	-0.720115	0.03182	.	.	ENSG00000215455	ENST00000400375	T	0.01221	5.15	3.71	1.78	0.24846	.	.	.	.	.	T	0.03095	0.0091	M	0.90483	3.12	0.26078	N	0.981137	B	0.31383	0.321	B	0.28849	0.095	T	0.31251	-0.9950	9	0.87932	D	0	.	3.2647	0.06860	0.2249:0.0:0.5681:0.207	.	274	P60331	KR101_HUMAN	G	274	ENSP00000383226:R274G	ENSP00000383226:R274G	R	-	1	0	KRTAP10-1	44783642	0.972000	0.33761	0.647000	0.29507	0.007000	0.05969	1.746000	0.38288	0.332000	0.23536	-0.189000	0.12847	CGC		PASS	0.731	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			30	10	30	10	---	---	---	---
MMP11	4320	broad.mit.edu	37	22	24121524	24121524	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:24121524G>A	ENST00000215743.3	+	2	311	c.259G>A	c.(259-261)Gat>Aat	p.D87N	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	87					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D87N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CGACCCATCTGATGGGCTGAG	0.697																																						uc002zxx.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(259-261)GAT>AAT		matrix metalloproteinase 11 preproprotein							20.0	22.0	22.0					22																	24121524		2203	4300	6503	SO:0001583	missense	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24121524G>A		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.259G>A	22.37:g.24121524G>A	ENSP00000215743:p.Asp87Asn					MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank	p.D87N	NM_005940	NP_005931	P24347	MMP11_HUMAN			2	281	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	87					Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	ENST00000215743.3	37	c.259G>A	CCDS13816.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375062	0.24857	.	.	ENSG00000099953	ENST00000215743	T	0.12879	2.64	4.34	-0.448	0.12230	Metallopeptidase, catalytic domain (1);	1.354870	0.04391	N	0.362498	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	1	B	0.28233	0.204	B	0.26310	0.068	T	0.36065	-0.9763	10	0.29301	T	0.29	.	6.5939	0.22661	0.2397:0.1307:0.6296:0.0	.	87	P24347	MMP11_HUMAN	N	87	ENSP00000215743:D87N	ENSP00000215743:D87N	D	+	1	0	MMP11	22451524	.	.	0.000000	0.03702	0.116000	0.19942	.	.	0.225000	0.20959	-0.300000	0.09419	GAT		PASS	0.697	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		14	33	14	33	---	---	---	---
MMP11	4320	broad.mit.edu	37	22	24121532	24121532	+	Silent	SNP	G	G	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:24121532G>C	ENST00000215743.3	+	2	319	c.267G>C	c.(265-267)ctG>ctC	p.L89L	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	89					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L89L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	CTGATGGGCTGAGTGCCCGCA	0.682																																						uc002zxx.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(265-267)CTG>CTC		matrix metalloproteinase 11 preproprotein							22.0	23.0	23.0					22																	24121532		2203	4300	6503	SO:0001819	synonymous_variant	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24121532G>C		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.267G>C	22.37:g.24121532G>C						MMP11_uc002zxy.2_RNA|MMP11_uc002zxz.2_5'Flank	p.L89L	NM_005940	NP_005931	P24347	MMP11_HUMAN			2	289	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	89					Q5FX24|Q6PEZ6|Q9UC26	Silent	SNP	ENST00000215743.3	37	c.267G>C	CCDS13816.1																																																																																				PASS	0.682	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		14	31	14	31	---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26114280	26114280	+	Nonsense_Mutation	SNP	C	C	T	rs148927409		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:26114280C>T	ENST00000324198.6	+	19	1915	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	575	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.Q575*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ATTTCTGACTCAGTGGCAGCG	0.463																																						uc003abx.3																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(1723-1725)CAG>TAG		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)	C	stop/GLN	0,4406		0,0,2203	140.0	139.0	139.0		1723	5.3	1.0	22	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ADRBK2	NM_005160.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		575/689	26114280	1,13005	2203	4300	6503	SO:0001587	stop_gained	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26114280C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1723C>T	22.37:g.26114280C>T	ENSP00000317578:p.Gln575*					ADRBK2_uc003aby.3_RNA	p.Q575*	NM_005160	NP_005151	P35626	ARBK2_HUMAN			19	1870	+			575			PH.		Q9UGW9	Nonsense_Mutation	SNP	ENST00000324198.6	37	c.1723C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	40	8.029806	0.98619	0.0	1.16E-4	ENSG00000100077	ENST00000324198	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-33.7759	18.3039	0.90174	0.0:1.0:0.0:0.0	.	.	.	.	X	575	.	ENSP00000317578:Q575X	Q	+	1	0	ADRBK2	24444280	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.984000	0.76186	2.635000	0.89317	0.655000	0.94253	CAG		PASS	0.463	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		4	154	4	154	---	---	---	---
SEC14L4	284904	broad.mit.edu	37	22	30891954	30891954	+	Silent	SNP	T	T	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:30891954T>A	ENST00000255858.7	-	3	218	c.135A>T	c.(133-135)cgA>cgT	p.R45R	SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000381982.3_Silent_p.R45R|SEC14L4_ENST00000540456.1_Missense_Mutation_p.E14V	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	45						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.R45R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGTCAAAGTTTCGAGCTGCAA	0.507																																						uc003aid.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(133-135)CGA>CGT		SEC14p-like protein TAP3 isoform a	Vitamin E(DB00163)						74.0	58.0	63.0					22																	30891954		2203	4300	6503	SO:0001819	synonymous_variant	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30891954T>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.135A>T	22.37:g.30891954T>A						SEC14L4_uc011akz.1_Silent_p.R45R|SEC14L4_uc003aie.2_Missense_Mutation_p.E14V|SEC14L4_uc003aif.2_5'UTR	p.R45R	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN			3	235	-			45					A5D6W7|A6NCV4	Silent	SNP	ENST00000255858.7	37	c.135A>T	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	t	15.23	2.771651	0.49680	.	.	ENSG00000133488	ENST00000540456	T	0.70045	-0.45	4.51	-6.58	0.01836	.	.	.	.	.	T	0.50667	0.1629	.	.	.	0.80722	D	1	B	0.25667	0.131	B	0.28232	0.087	T	0.34950	-0.9808	8	0.72032	D	0.01	0.022	6.0837	0.19954	0.0:0.292:0.3442:0.3637	.	14	G3V1L4	.	V	14	ENSP00000440848:E14V	ENSP00000440848:E14V	E	-	2	0	SEC14L4	29221954	0.001000	0.12720	0.808000	0.32385	0.793000	0.44817	-0.898000	0.04105	-0.788000	0.04504	-0.408000	0.06270	GAA		PASS	0.507	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		20	31	20	31	---	---	---	---
PLA2G3	50487	broad.mit.edu	37	22	31535854	31535854	+	Missense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:31535854C>T	ENST00000215885.3	-	1	739	c.487G>A	c.(487-489)Gat>Aat	p.D163N		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	163	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)	p.D163N(2)		large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCAGCAGAATCTCCAACTCCA	0.617																																						uc003aka.2																			2	Substitution - Missense(2)		lung(2)		0						c.(487-489)GAT>AAT		phospholipase A2, group III precursor							96.0	85.0	88.0					22																	31535854		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31535854C>T	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.487G>A	22.37:g.31535854C>T	ENSP00000215885:p.Asp163Asn						p.D163N	NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN			1	616	-			163			Phospholipase A2-like.		O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.487G>A	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	C	0.321	-0.961920	0.02249	.	.	ENSG00000100078	ENST00000215885	T	0.26067	1.76	5.17	0.682	0.17992	Phospholipase A2 (3);	0.347316	0.34362	N	0.004026	T	0.06416	0.0165	N	0.02286	-0.61	0.25531	N	0.987275	B	0.25235	0.121	B	0.22601	0.04	T	0.38178	-0.9673	10	0.02654	T	1	-18.5221	4.8273	0.13423	0.0:0.4994:0.1482:0.3524	.	163	Q9NZ20	PA2G3_HUMAN	N	163	ENSP00000215885:D163N	ENSP00000215885:D163N	D	-	1	0	PLA2G3	29865854	0.656000	0.27385	0.476000	0.27291	0.120000	0.20174	0.702000	0.25631	0.199000	0.20427	-0.469000	0.05056	GAT		PASS	0.617	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		9	99	9	99	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	32010810	32010810	+	Missense_Mutation	SNP	G	G	T	rs371195366		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:32010810G>T	ENST00000400288.2	+	28	3137	c.3032G>T	c.(3031-3033)cGc>cTc	p.R1011L	SFI1_ENST00000432498.1_Missense_Mutation_p.R980L|SFI1_ENST00000540643.1_Missense_Mutation_p.R956L|SFI1_ENST00000443326.1_Missense_Mutation_p.R929L|SFI1_ENST00000400289.1_Missense_Mutation_p.R929L|SFI1_ENST00000443011.1_Missense_Mutation_p.R858L|SFI1_ENST00000414585.1_Missense_Mutation_p.R858L|SFI1_ENST00000474741.1_3'UTR	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1011					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.R1011L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGCCGCGACGCCCACACTTC	0.662																																						uc003ale.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(3031-3033)CGC>CTC		spindle assembly associated Sfi1 homolog isoform							34.0	42.0	39.0					22																	32010810		2007	4177	6184	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32010810G>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3032G>T	22.37:g.32010810G>T	ENSP00000383145:p.Arg1011Leu					SFI1_uc003alf.2_Missense_Mutation_p.R980L|SFI1_uc003alg.2_Missense_Mutation_p.R929L|SFI1_uc011alp.1_Missense_Mutation_p.R917L|SFI1_uc011alq.1_Missense_Mutation_p.R956L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Missense_Mutation_p.R103L|SFI1_uc003alj.2_Missense_Mutation_p.A83S	p.R1011L	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			28	3425	+			1011					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.3032G>T	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094478	0.56075	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	T;T;T;T;T;T;T;T	0.16597	2.83;2.83;2.66;2.62;2.66;2.66;2.84;2.33	4.9	4.9	0.64082	.	0.261694	0.34245	N	0.004126	T	0.16171	0.0389	N	0.08118	0	0.29681	N	0.841668	P;P;P;P;P;B	0.46064	0.837;0.725;0.743;0.872;0.569;0.327	P;B;B;B;B;B	0.51016	0.656;0.253;0.421;0.437;0.34;0.138	T	0.04268	-1.0964	10	0.66056	D	0.02	.	14.8181	0.70050	0.0:0.0:1.0:0.0	.	956;917;594;929;980;1011	A8K8P3-9;A8K8P3-10;B7ZBE1;A8K8P3-3;A8K8P3-2;A8K8P3	.;.;.;.;.;SFI1_HUMAN	L	980;956;929;760;858;858;929;1011;594	ENSP00000402679:R980L;ENSP00000443025:R956L;ENSP00000416469:R929L;ENSP00000397148:R858L;ENSP00000401199:R858L;ENSP00000383146:R929L;ENSP00000383145:R1011L;ENSP00000398871:R594L	ENSP00000383145:R1011L	R	+	2	0	SFI1	30340810	0.881000	0.30235	0.977000	0.42913	0.419000	0.31324	2.524000	0.45589	2.264000	0.75181	0.561000	0.74099	CGC		PASS	0.662	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		69	48	69	48	---	---	---	---
SLC5A4	6527	broad.mit.edu	37	22	32644773	32644773	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:32644773A>G	ENST00000266086.4	-	4	340	c.329T>C	c.(328-330)cTg>cCg	p.L110P	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	110					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L110P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCAAGAATCAGCAACATTAC	0.463																																						uc003ami.2																			1	Substitution - Missense(1)		lung(1)		0						c.(328-330)CTG>CCG		solute carrier family 5 (low affinity glucose							188.0	167.0	174.0					22																	32644773		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32644773A>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.329T>C	22.37:g.32644773A>G	ENSP00000266086:p.Leu110Pro						p.L110P	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			4	331	-			110			Helical; (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.329T>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	a	8.454	0.853835	0.17106	.	.	ENSG00000100191	ENST00000266086	D	0.89050	-2.46	4.88	1.28	0.21552	.	0.539636	0.19225	N	0.119577	D	0.89687	0.6787	M	0.90759	3.145	0.09310	N	1	B	0.15930	0.015	B	0.14578	0.011	T	0.81529	-0.0891	10	0.62326	D	0.03	.	11.1302	0.48343	0.8207:0.0:0.1793:0.0	.	110	Q9NY91	SC5A4_HUMAN	P	110	ENSP00000266086:L110P	ENSP00000266086:L110P	L	-	2	0	SLC5A4	30974773	0.294000	0.24380	0.000000	0.03702	0.000000	0.00434	2.896000	0.48656	-0.253000	0.09514	-2.070000	0.00385	CTG		PASS	0.463	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		72	107	72	107	---	---	---	---
C1QTNF6	114904	broad.mit.edu	37	22	37578345	37578345	+	Nonsense_Mutation	SNP	G	G	T	rs144359957	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:37578345G>T	ENST00000337843.2	-	3	795	c.720C>A	c.(718-720)taC>taA	p.Y240*	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Nonsense_Mutation_p.Y240*|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Nonsense_Mutation_p.Y116*	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	221	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.Y240*(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CGCGGTCCCCGTAGGCCAGGT	0.592																																						uc003aqw.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(661-663)TAC>TAA		C1q and tumor necrosis factor related protein 6							78.0	62.0	68.0					22																	37578345		2203	4300	6503	SO:0001587	stop_gained	114904					collagen		g.chr22:37578345G>T	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.720C>A	22.37:g.37578345G>T	ENSP00000338812:p.Tyr240*					C1QTNF6_uc003aqx.1_Nonsense_Mutation_p.Y240*|C1QTNF6_uc003aqy.1_Nonsense_Mutation_p.Y240*|C1QTNF6_uc003aqz.1_RNA	p.Y221*	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	1168	-			221			C1q.		Q5H9G8|Q6ZRM7	Nonsense_Mutation	SNP	ENST00000337843.2	37	c.663C>A	CCDS13943.1	.	.	.	.	.	.	.	.	.	.	G	5.996	0.367701	0.11352	.	.	ENSG00000133466	ENST00000397110;ENST00000337843;ENST00000255836	.	.	.	4.94	-7.71	0.01254	.	0.948371	0.08851	N	0.884471	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	2.5084	0.04651	0.3001:0.3858:0.1444:0.1697	.	.	.	.	X	240;240;116	.	ENSP00000255836:Y116X	Y	-	3	2	C1QTNF6	35908291	0.001000	0.12720	0.122000	0.21767	0.008000	0.06430	-0.381000	0.07417	-1.173000	0.02758	-1.036000	0.02392	TAC		PASS	0.592	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		18	8	18	8	---	---	---	---
C1QTNF6	114904	broad.mit.edu	37	22	37578618	37578618	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:37578618G>A	ENST00000337843.2	-	3	522	c.447C>T	c.(445-447)ggC>ggT	p.G149G	C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000397110.2_Silent_p.G149G|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.G25G	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	130	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.G149G(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						CCGTCTTGCGGCCCACTGAGA	0.652																																						uc003aqw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(388-390)GGC>GGT		C1q and tumor necrosis factor related protein 6							40.0	44.0	43.0					22																	37578618		2203	4300	6503	SO:0001819	synonymous_variant	114904					collagen		g.chr22:37578618G>A	AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.447C>T	22.37:g.37578618G>A						C1QTNF6_uc003aqx.1_Silent_p.G149G|C1QTNF6_uc003aqy.1_Silent_p.G149G|C1QTNF6_uc003aqz.1_RNA	p.G130G	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN			2	895	-			130			C1q.		Q5H9G8|Q6ZRM7	Silent	SNP	ENST00000337843.2	37	c.390C>T	CCDS13943.1																																																																																				PASS	0.652	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318807.1	NM_182486		35	33	35	33	---	---	---	---
GCAT	23464	broad.mit.edu	37	22	38212584	38212584	+	Silent	SNP	C	C	G	rs149775052		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:38212584C>G	ENST00000248924.6	+	9	1175	c.1119C>G	c.(1117-1119)gtC>gtG	p.V373V	GCAT_ENST00000323205.6_Silent_p.V399V	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	373					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)	p.V373V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	GCATCTTTGTCATCGGGTTCA	0.602																																						uc003atz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1117-1119)GTC>GTG		glycine C-acetyltransferase precursor	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						83.0	77.0	79.0					22																	38212584		2203	4300	6503	SO:0001819	synonymous_variant	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38212584C>G	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.1119C>G	22.37:g.38212584C>G						GCAT_uc003aua.1_Silent_p.V399V	p.V373V	NM_014291	NP_055106	O75600	KBL_HUMAN			9	1139	+	Melanoma(58;0.045)		373					E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	ENST00000248924.6	37	c.1119C>G	CCDS13957.1																																																																																				PASS	0.602	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2		45	66	45	66	---	---	---	---
ADSL	158	broad.mit.edu	37	22	40754992	40754992	+	Missense_Mutation	SNP	G	G	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:40754992G>T	ENST00000216194.7	+	5	663	c.607G>T	c.(607-609)Ggc>Tgc	p.G203C	ADSL_ENST00000342312.6_Missense_Mutation_p.G203C|ADSL_ENST00000454266.2_Missense_Mutation_p.G217C|ADSL_ENST00000480775.1_3'UTR	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	203					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)	p.G203C(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GGGTACCACTGGCACTCAGGC	0.507																																					Colon(4;65 130 1097 1516)	uc003ayp.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(607-609)GGC>TGC		adenylosuccinate lyase isoform a							79.0	73.0	75.0					22																	40754992		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40754992G>T	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.607G>T	22.37:g.40754992G>T	ENSP00000216194:p.Gly203Cys					ADSL_uc003ays.3_Missense_Mutation_p.G203C|ADSL_uc003ayq.3_Missense_Mutation_p.G203C|ADSL_uc003ayr.3_5'UTR|ADSL_uc003ayt.3_Missense_Mutation_p.G188C|ADSL_uc010gyb.1_RNA	p.G203C	NM_000026	NP_000017	P30566	PUR8_HUMAN			5	666	+			203					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.607G>T	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117574	0.94385	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.99422	-4.38;-4.38;-5.88	6.05	6.05	0.98169	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.98542	4.26	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97103	0.9799	10	0.87932	D	0	-29.4252	20.6087	0.99469	0.0:0.0:1.0:0.0	.	217;203;203;203	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	C	203;217;23;203	ENSP00000216194:G203C;ENSP00000390107:G217C;ENSP00000341429:G203C	ENSP00000216194:G203C	G	+	1	0	ADSL	39084938	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.972000	0.93424	2.866000	0.98385	0.650000	0.86243	GGC		PASS	0.507	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		23	22	23	22	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	43936136	43936136	+	Missense_Mutation	SNP	C	C	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr22:43936136C>A	ENST00000262726.7	-	28	4003	c.3750G>T	c.(3748-3750)atG>atT	p.M1250I	EFCAB6_ENST00000396231.2_Missense_Mutation_p.M1098I|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.M1250I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CACCAGTGGCCATTGGTGTGG	0.592																																						uc003bdy.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(3748-3750)ATG>ATT		CAP-binding protein complex interacting protein							94.0	77.0	83.0					22																	43936136		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43936136C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3750G>T	22.37:g.43936136C>A	ENSP00000262726:p.Met1250Ile					EFCAB6_uc003bdz.1_Missense_Mutation_p.M1098I|EFCAB6_uc010gzi.1_Missense_Mutation_p.M1098I|EFCAB6_uc010gzj.1_3'UTR	p.M1250I	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			28	3965	-		Ovarian(80;0.0247)|all_neural(38;0.025)	1250					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.3750G>T	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	5.328	0.245787	0.10077	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13196	2.61;2.61	5.49	-11.0	0.00169	EF-hand calcium-binding domain-containing protein 6 (1);	0.937763	0.08903	N	0.876918	T	0.05547	0.0146	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.21690	-1.0238	10	0.22706	T	0.39	-2.2141	5.2241	0.15385	0.0712:0.182:0.3704:0.3764	.	1250	Q5THR3	EFCB6_HUMAN	I	1098;1250	ENSP00000379533:M1098I;ENSP00000262726:M1250I	ENSP00000262726:M1250I	M	-	3	0	EFCAB6	42267469	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.234000	0.00546	-2.492000	0.00516	-1.884000	0.00543	ATG		PASS	0.592	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		18	57	18	57	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29935678	29935678	+	Silent	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:29935678T>C	ENST00000378993.1	+	7	1549	c.876T>C	c.(874-876)gaT>gaC	p.D292D	IL1RAPL1_ENST00000302196.4_Silent_p.D292D	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	292	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.D292D(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTATTGAAGATCTGGATGAAA	0.353																																						uc004dby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(874-876)GAT>GAC		interleukin 1 receptor accessory protein-like 1							61.0	60.0	60.0					X																	29935678		2202	4300	6502	SO:0001819	synonymous_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29935678T>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.876T>C	X.37:g.29935678T>C							p.D292D	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			7	1384	+			292			Extracellular (Potential).|Ig-like C2-type 3.		A0AVG4|Q9UJ53	Silent	SNP	ENST00000378993.1	37	c.876T>C	CCDS14218.1																																																																																				PASS	0.353	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		4	40	4	40	---	---	---	---
CCDC22	28952	broad.mit.edu	37	X	49099760	49099760	+	Silent	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:49099760G>A	ENST00000376227.3	+	6	716	c.546G>A	c.(544-546)gaG>gaA	p.E182E	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	182								p.E182E(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						AGCCACGGGAGTTCCAGGCGA	0.657																																						uc004dnd.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(544-546)GAG>GAA		coiled-coil domain containing 22							33.0	24.0	27.0					X																	49099760		2201	4299	6500	SO:0001819	synonymous_variant	28952							g.chrX:49099760G>A	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.546G>A	X.37:g.49099760G>A						CCDC22_uc011mna.1_Silent_p.E182E|CCDC22_uc004dnc.1_RNA	p.E182E	NM_014008	NP_054727	O60826	CCD22_HUMAN			6	702	+			182					A8K7G1	Silent	SNP	ENST00000376227.3	37	c.546G>A	CCDS14322.1																																																																																				PASS	0.657	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		10	1	10	1	---	---	---	---
HUWE1	10075	broad.mit.edu	37	X	53578044	53578044	+	Missense_Mutation	SNP	T	T	C			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:53578044T>C	ENST00000342160.3	-	64	9660	c.9203A>G	c.(9202-9204)gAc>gGc	p.D3068G	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3068G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3068					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D3068G(1)|p.D2958G(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACGGCGCAGGTCTGAGGGCAG	0.562																																						uc004dsp.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(9202-9204)GAC>GGC		HECT, UBA and WWE domain containing 1							113.0	98.0	103.0					X																	53578044		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53578044T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9203A>G	X.37:g.53578044T>C	ENSP00000340648:p.Asp3068Gly					HUWE1_uc004dsn.2_Missense_Mutation_p.D1876G	p.D3068G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			65	9605	-			3068					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.9203A>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.315000	0.60524	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.36878	1.23;1.23	5.88	5.88	0.94601	.	0.057129	0.64402	D	0.000002	T	0.37100	0.0991	L	0.35644	1.08	0.53005	D	0.999961	P;P	0.45348	0.856;0.827	P;P	0.47864	0.559;0.52	T	0.06954	-1.0798	10	0.27785	T	0.31	.	14.1505	0.65381	0.0:0.0:0.0:1.0	.	3068;3052	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	G	3068	ENSP00000340648:D3068G;ENSP00000262854:D3068G	ENSP00000262854:D3068G	D	-	2	0	HUWE1	53594769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.306000	0.78905	1.987000	0.57996	0.486000	0.48141	GAC		PASS	0.562	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		6	27	6	27	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123514841	123514841	+	Missense_Mutation	SNP	A	A	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:123514841A>G	ENST00000371130.3	-	31	7786	c.7723T>C	c.(7723-7725)Ttc>Ctc	p.F2575L	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.F2582L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2575					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.F2577L(1)									AGCTTAATGAAGTAGTGAGTG	0.498																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(7723-7725)TTC>CTC		odz, odd Oz/ten-m homolog 1 isoform 3							99.0	77.0	84.0					X																	123514841		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123514841A>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7723T>C	X.37:g.123514841A>G	ENSP00000360171:p.Phe2575Leu					ODZ1_uc011muj.1_Missense_Mutation_p.F2581L|ODZ1_uc010nqy.2_Missense_Mutation_p.F2582L	p.F2575L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			31	7787	-			2575			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7723T>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999291	0.74818	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.89270	-2.49;-2.46	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.93099	0.7803	M	0.64567	1.98	0.80722	D	1	D;B;P	0.58268	0.982;0.274;0.816	D;B;B	0.67548	0.952;0.081;0.263	D	0.93744	0.7053	10	0.87932	D	0	.	15.1686	0.72850	1.0:0.0:0.0:0.0	.	2581;2582;2575	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	2575;2582	ENSP00000360171:F2575L;ENSP00000403954:F2582L	ENSP00000360171:F2575L	F	-	1	0	ODZ1	123342522	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.518000	0.81795	1.965000	0.57142	0.486000	0.48141	TTC		PASS	0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		69	7	69	7	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128599711	128599711	+	Splice_Site	SNP	T	T	G			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:128599711T>G	ENST00000371122.4	-	23	2947		c.e23-2		SMARCA1_ENST00000371121.3_Splice_Site|SMARCA1_ENST00000371123.1_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.?(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TCTTGCAATCTGTGTATTTAA	0.323																																						uc004eun.3																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e23-1		SWI/SNF-related matrix-associated							91.0	78.0	82.0					X																	128599711		2203	4300	6503	SO:0001630	splice_region_variant	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128599711T>G	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2818-2A>C	X.37:g.128599711T>G						SMARCA1_uc004eup.3_Splice_Site_p.I928_splice|SMARCA1_uc011muk.1_Splice_Site_p.I940_splice|SMARCA1_uc011mul.1_Splice_Site_p.I928_splice	p.I940_splice	NM_003069	NP_003060	P28370	SMCA1_HUMAN			23	2931	-								Q5JV41|Q5JV42	Splice_Site	SNP	ENST00000371122.4	37	c.2818_splice	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.211081	0.79240	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9847	0.71339	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCA1	128427392	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	7.989000	0.88205	1.921000	0.55644	0.486000	0.48141	.		PASS	0.323	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	Intron	39	7	39	7	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150911633	150911633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:150911633C>T	ENST00000329903.4	+	6	691	c.658C>T	c.(658-660)Cag>Tag	p.Q220*		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	220					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q220*(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCACACCCTGCAGTTCAAGCT	0.522																																						uc004fey.1																			1	Substitution - Nonsense(1)		lung(1)	breast(3)	3						c.(658-660)CAG>TAG		cyclic nucleotide gated channel alpha 2							138.0	99.0	112.0					X																	150911633		2203	4300	6503	SO:0001587	stop_gained	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911633C>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.658C>T	X.37:g.150911633C>T	ENSP00000328478:p.Gln220*						p.Q220*	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			7	882	+	Acute lymphoblastic leukemia(192;6.56e-05)		220			Cytoplasmic (Potential).		A0AVD0	Nonsense_Mutation	SNP	ENST00000329903.4	37	c.658C>T	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722179	0.89298	.	.	ENSG00000183862	ENST00000329903	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.6554	0.77129	0.0:1.0:0.0:0.0	.	.	.	.	X	220	.	ENSP00000328478:Q220X	Q	+	1	0	CNGA2	150662289	1.000000	0.71417	0.957000	0.39632	0.799000	0.45148	7.487000	0.81328	2.293000	0.77203	0.600000	0.82982	CAG		PASS	0.522	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		45	5	45	5	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151124015	151124015	+	Missense_Mutation	SNP	G	G	A			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:151124015G>A	ENST00000370328.3	-	8	1015	c.962C>T	c.(961-963)aCc>aTc	p.T321I	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.T321I|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	321					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T321I(1)|p.T208I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCCAACGTGGTCATGGTCAG	0.498																																						uc004ffi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(961-963)ACC>ATC		gamma-aminobutyric acid (GABA) A receptor,							108.0	92.0	98.0					X																	151124015		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151124015G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.962C>T	X.37:g.151124015G>A	ENSP00000359353:p.Thr321Ile					GABRE_uc011myd.1_RNA	p.T321I	NM_004961	NP_004952	P78334	GBRE_HUMAN			8	1016	-	Acute lymphoblastic leukemia(192;6.56e-05)		321					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.962C>T	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793592	0.70452	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	D;D	0.93763	-3.28;-3.28	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000020	D	0.94751	0.8306	L	0.41415	1.275	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.95260	0.8368	10	0.87932	D	0	.	16.4778	0.84137	0.0:0.0:1.0:0.0	.	321	P78334	GBRE_HUMAN	I	321	ENSP00000359353:T321I;ENSP00000359350:T321I	ENSP00000359350:T321I	T	-	2	0	GABRE	150874671	1.000000	0.71417	0.999000	0.59377	0.215000	0.24574	9.869000	0.99810	2.498000	0.84270	0.600000	0.82982	ACC		PASS	0.498	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		42	8	42	8	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs56352724|rs3831942|rs367921715|rs58327065		TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.4	-	1	556_557	c.241_242insAGCAGC	c.(241-243)cca>cAGCAGCca	p.80_81insQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.		Missing.		potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGGATGCGGTGgctgctgctgc	0.698																																						uc001ffp.2																			2	Insertion - In frame(2)		prostate(2)	lung(1)	1						c.(241-243)CCA>CAGCAGCCA		small conductance calcium-activated potassium																																				SO:0001652	inframe_insertion	3782					integral to membrane	calmodulin binding	g.chr1:154842199_154842200insGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241dupAGCAGC	1.37:g.154842200_154842205dupGCTGCT	ENSP00000271915:p.Gln79_Gln80dup					KCNN3_uc009wox.1_In_Frame_Ins_p.80_81insQQ	p.80_81insQQ	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	555_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80_86					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	c.241_242insAGCAGC	CCDS30880.1																																																																																					0.698	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		10	8	10	8	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73613263	73613263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:73613263delT	ENST00000264448.6	+	1	378	c.267delT	c.(265-267)cctfs	p.P90fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.P90fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.P90fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	90					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGATTTTGCCTCCGCTGTCGC	0.697																																						uc002sje.1																			0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(268-270)CCTfs		Alstrom syndrome 1							9.0	13.0	11.0					2																	73613263		1902	4077	5979	SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73613263delT	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.267delT	2.37:g.73613263delT	ENSP00000264448:p.Pro90fs					ALMS1_uc002sjf.1_Frame_Shift_Del_p.P89fs	p.P90fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			2	381	+			89					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.270delT	CCDS42697.1																																																																																					0.697	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		4	2	4	2	---	---	---	---
INHA	3623	broad.mit.edu	37	2	220439825	220439826	+	Frame_Shift_Ins	INS	-	-	G	rs12720061	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr2:220439825_220439826insG	ENST00000243786.2	+	2	858_859	c.678_679insG	c.(679-681)gggfs	p.G227fs		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	227			G -> R (in dbSNP:rs12720061).		cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CACCCAGTGGAGGGGAGAGAGC	0.683																																						uc002vmk.1																			0				ovary(1)	1	GRCh37	CM041026	INHA	M	rs12720061	c.(676-681)GGAGGGfs		inhibin alpha subunit precursor																																				SO:0001589	frameshift_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439825_220439826insG		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.682dupG	2.37:g.220439829_220439829dupG	ENSP00000243786:p.Gly227fs						p.G226fs	NM_002191	NP_002182	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	822_823	+		Renal(207;0.0183)	226_227					A8K8H5	Frame_Shift_Ins	INS	ENST00000243786.2	37	c.678_679insG	CCDS2444.1																																																																																					0.683	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			10	48	10	48	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111887848	111887849	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr3:111887848_111887849delCT	ENST00000305815.5	-	25	3364_3365	c.3112_3113delAG	c.(3112-3114)agtfs	p.S1038fs	SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.S990fs	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1038					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGTTTTGGTACTCATTGGTATA	0.302																																						uc003dyu.2																			0				ovary(3)|breast(2)	5						c.(3112-3114)AGTfs		sperm-specific sodium proton exchanger																																				SO:0001589	frameshift_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111887848_111887849delCT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3112_3113delAG	3.37:g.111887848_111887849delCT	ENSP00000306627:p.Ser1038fs					SLC9A10_uc011bhu.1_Frame_Shift_Del_p.S301fs|SLC9A10_uc010hqc.2_Frame_Shift_Del_p.S990fs	p.S1038fs	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			25	3334_3335	-			1038					Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	ENST00000305815.5	37	c.3112_3113delAG	CCDS33817.1																																																																																					0.302	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		58	48	58	48	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146720553	146720553	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:146720553delC	ENST00000282753.1	+	7	2613	c.2378delC	c.(2377-2379)accfs	p.T794fs	GRM1_ENST00000361719.2_Frame_Shift_Del_p.T794fs|GRM1_ENST00000507907.1_Frame_Shift_Del_p.T794fs|GRM1_ENST00000492807.2_Frame_Shift_Del_p.T794fs|GRM1_ENST00000392299.2_Frame_Shift_Del_p.T794fs|GRM1_ENST00000355289.4_Frame_Shift_Del_p.T794fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	794					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		ACCATGTACACCACCTGTATC	0.478																																						uc010khw.1																			0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2377-2379)ACCfs		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						186.0	155.0	166.0					6																	146720553		2203	4300	6503	SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720553delC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2378delC	6.37:g.146720553delC	ENSP00000282753:p.Thr794fs					GRM1_uc010khv.1_Frame_Shift_Del_p.T793fs|GRM1_uc003qll.2_Frame_Shift_Del_p.T793fs|GRM1_uc011edz.1_Frame_Shift_Del_p.T793fs|GRM1_uc011eea.1_Frame_Shift_Del_p.T793fs	p.T793fs	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2848	+		Ovarian(120;0.0387)	793			Helical; Name=6; (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Del	DEL	ENST00000282753.1	37	c.2378delC	CCDS5209.1																																																																																					0.478	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		59	35	59	35	---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159651036	159651036	+	Splice_Site	DEL	G	G	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr6:159651036delG	ENST00000297267.9	+	10	1569		c.e10+1		FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1						cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ATGCCAACAAGTAAGCATTAT	0.488																																						uc010kjv.2																			0				large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.e10+1		fibronectin type III domain containing 1							141.0	148.0	146.0					6																	159651036		1974	4164	6138	SO:0001630	splice_region_variant	84624					extracellular region		g.chr6:159651036delG	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1369+1G>-	6.37:g.159651036delG						FNDC1_uc010kjw.1_Intron	p.T457_splice	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	1569	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)						A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Splice_Site	DEL	ENST00000297267.9	37	c.1369_splice	CCDS47512.1																																																																																					0.488	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	Intron	89	61	89	61	---	---	---	---
SPAM1	6677	broad.mit.edu	37	7	123599605	123599605	+	Frame_Shift_Del	DEL	T	T	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr7:123599605delT	ENST00000439500.1	+	6	1725	c.1112delT	c.(1111-1113)ctafs	p.L371fs	SPAM1_ENST00000340011.5_Frame_Shift_Del_p.L371fs|SPAM1_ENST00000223028.7_Frame_Shift_Del_p.L371fs|SPAM1_ENST00000460182.1_Frame_Shift_Del_p.L371fs|SPAM1_ENST00000402183.2_Frame_Shift_Del_p.L371fs	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	371					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACGTCACACTAGCAGCCAAA	0.378																																						uc003vld.2																			0				ovary(3)|kidney(1)	4						c.(1111-1113)CTAfs		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)						105.0	97.0	100.0					7																	123599605		2203	4300	6503	SO:0001589	frameshift_variant	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123599605delT	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1112delT	7.37:g.123599605delT	ENSP00000402123:p.Leu371fs					SPAM1_uc003vle.2_Frame_Shift_Del_p.L371fs|SPAM1_uc011koa.1_Frame_Shift_Del_p.L27fs|SPAM1_uc003vlf.3_Frame_Shift_Del_p.L371fs|SPAM1_uc010lku.2_Frame_Shift_Del_p.L371fs	p.L371fs	NM_153189	NP_694859	P38567	HYALP_HUMAN			6	1514	+			371					Q8TC30	Frame_Shift_Del	DEL	ENST00000439500.1	37	c.1112delT	CCDS5791.1																																																																																					0.378	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			41	48	41	48	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10480382	10480382	+	Frame_Shift_Del	DEL	G	G	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr8:10480382delG	ENST00000382483.3	-	2	553	c.330delC	c.(328-330)cccfs	p.P110fs	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	110	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGGGGTCTTGGGGGGCTTCT	0.652																																						uc003wtc.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(328-330)CCCfs		retinitis pigmentosa 1-like 1							15.0	17.0	16.0					8																	10480382		1927	4128	6055	SO:0001589	frameshift_variant	94137				intracellular signal transduction			g.chr8:10480382delG	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.330delC	8.37:g.10480382delG	ENSP00000371923:p.Pro110fs						p.P110fs	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	559	-			110					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	ENST00000382483.3	37	c.330delC	CCDS43708.1																																																																																					0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	21	9	21	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81058846	81058847	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr10:81058846_81058847delGG	ENST00000334512.5	+	16	2278_2279	c.1706_1707delGG	c.(1705-1707)cggfs	p.R569fs		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	569					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TTCCCTGTGCGGGATGGCGTGG	0.649																																						uc001kaf.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(1705-1707)CGGfs		retinoic acid induced 17																																				SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058846_81058847delGG	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1706_1707delGG	10.37:g.81058846_81058847delGG	ENSP00000334474:p.Arg569fs					ZMIZ1_uc001kag.2_Frame_Shift_Del_p.R445fs	p.R569fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		16	2278_2279	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		569					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.1706_1707delGG	CCDS7357.1																																																																																					0.649	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		14	23	14	23	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48947589	48947593	+	Frame_Shift_Del	DEL	AAGTG	AAGTG	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr13:48947589_48947593delAAGTG	ENST00000267163.4	+	12	1314_1318	c.1176_1180delAAGTG	c.(1174-1182)gcaagtgatfs	p.SD393fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	393	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TAAATTCAGCAAGTGATCAACCTTC	0.283		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CD952119	RB1	D		c.(1174-1182)GCAAGTGATfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48947589_48947593delAAGTG	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1176_1180delAAGTG	13.37:g.48947589_48947593delAAGTG	ENSP00000267163:p.Ser393fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.A93fs	p.A392fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	12	1342_1346	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	392_394			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1176_1180delAAGTG	CCDS31973.1																																																																																					0.283	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			28	51	28	51	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34146970	34146970	+	Frame_Shift_Del	DEL	T	T	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:34146970delT	ENST00000389232.4	+	98	13934	c.13864delT	c.(13864-13866)tttfs	p.F4622fs	RYR3_ENST00000415757.3_Frame_Shift_Del_p.F4617fs|RYR3_ENST00000559917.1_3'UTR|RP11-3D4.3_ENST00000560404.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4622					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)			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)		TTCCCAGTCCTTTCTCTACCT	0.423																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13864-13866)TTTfs		ryanodine receptor 3							250.0	235.0	240.0					15																	34146970		1948	4156	6104	SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34146970delT		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.13864delT	15.37:g.34146970delT	ENSP00000373884:p.Phe4622fs					RYR3_uc010bar.2_Frame_Shift_Del_p.F4617fs	p.F4622fs	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)	98	13934	+		all_lung(180;7.18e-09)	4622			Helical; Name=M7; (Potential).		O15175|Q15412	Frame_Shift_Del	DEL	ENST00000389232.4	37	c.13864delT	CCDS45210.1																																																																																					0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			183	132	183	132	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42034848	42034848	+	Frame_Shift_Del	DEL	G	G	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr15:42034848delG	ENST00000570161.1	+	14	4690	c.4690delG	c.(4690-4692)gggfs	p.G1564fs	MGA_ENST00000566586.1_Intron|MGA_ENST00000389936.4_Frame_Shift_Del_p.G1564fs|MGA_ENST00000545763.1_Intron|MGA_ENST00000219905.7_Frame_Shift_Del_p.G1564fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			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)	AACCCTGGCAGGGACACAGAA	0.522																																						uc010ucy.1																			0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(4690-4692)GGGfs		MAX-interacting protein isoform 1							61.0	63.0	62.0					15																	42034848		1990	4171	6161	SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42034848delG	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.4690delG	15.37:g.42034848delG	ENSP00000457035:p.Gly1564fs					MGA_uc010ucz.1_Intron|MGA_uc010uda.1_Frame_Shift_Del_p.G180fs	p.G1564fs	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)	15	4871	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1564					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.4690delG	CCDS55959.1																																																																																					0.522	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		43	34	43	34	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site|POLDIP2_ENST00000003607.4_5'UTR	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						uc002haz.2																			0					0						c.e2+1		DNA polymerase delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_uc010wag.1_RNA|TMEM199_uc002hba.2_5'Flank|SARM1_uc010wah.1_5'Flank	p.W26_splice	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	210	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37	c.78_splice	CCDS11228.1																																																																																					0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		6	3	6	3	---	---	---	---
NHS	4810	broad.mit.edu	37	X	17710497	17710497	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:17710497delC	ENST00000380060.3	+	3	1099	c.761delC	c.(760-762)gccfs	p.A254fs	NHS_ENST00000398097.3_Frame_Shift_Del_p.A77fs	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	254	WAVE homology domain (WHD).				cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAGCAGCTGCCCCCCTTTCC	0.507																																						uc004cxx.2																			0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(760-762)GCCfs		Nance-Horan syndrome protein isoform 1							103.0	89.0	94.0					X																	17710497		2203	4300	6503	SO:0001589	frameshift_variant	4810					nucleus		g.chrX:17710497delC		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.761delC	X.37:g.17710497delC	ENSP00000369400:p.Ala254fs					NHS_uc011mix.1_Frame_Shift_Del_p.A254fs|NHS_uc004cxy.2_Frame_Shift_Del_p.A77fs|NHS_uc004cxz.2_Frame_Shift_Del_p.A77fs|NHS_uc004cya.2_5'UTR	p.A254fs	NM_198270	NP_938011	Q6T4R5	NHS_HUMAN			3	1099	+	Hepatocellular(33;0.183)		254					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Frame_Shift_Del	DEL	ENST00000380060.3	37	c.761delC	CCDS14181.1																																																																																					0.507	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		16	49	16	49	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70472485	70472485	+	Frame_Shift_Del	DEL	C	C	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:70472485delC	ENST00000353904.2	-	2	808	c.621delG	c.(619-621)cagfs	p.Q207fs	ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.Q207fs|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.Q207fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Q207fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Q207fs|ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.Q207fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Q207fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.Q207fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	207					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGTTTGGTCTGAGAACTGT	0.592																																						uc004dzh.1																			0				ovary(1)	1						c.(619-621)CAGfs		zinc finger protein 261							34.0	33.0	33.0					X																	70472485		2203	4299	6502	SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70472485delC	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.621delG	X.37:g.70472485delC	ENSP00000343909:p.Gln207fs					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Frame_Shift_Del_p.Q207fs|ZMYM3_uc004dzj.1_Frame_Shift_Del_p.Q207fs|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Frame_Shift_Del_p.Q207fs|ZMYM3_uc004dzl.3_Frame_Shift_Del_p.Q207fs|ZMYM3_uc004dzm.3_Frame_Shift_Del_p.Q207fs	p.Q207fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			2	708	-	Renal(35;0.156)		207					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.621delG	CCDS14409.1																																																																																					0.592	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		3	15	3	15	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102968474	102968474	+	Frame_Shift_Del	DEL	G	G	-			TCGA-43-6143-01A-11D-1817-08	TCGA-43-6143-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3874253f-7168-4cd6-b1d6-f426fa207313	cddef425-a065-4f10-b5fc-ceea4c287a0f	g.chrX:102968474delG	ENST00000372617.4	-	8	1477	c.1057delC	c.(1057-1059)cgafs	p.R355fs	TMEM31_ENST00000319560.6_Intron	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	355						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGCCTTCTTCGAAGTCGTATG	0.517																																						uc011mse.1																			0					0						c.(1057-1059)CGAfs		glycine receptor, alpha 4 precursor							76.0	74.0	75.0					X																	102968474		2203	4300	6503	SO:0001589	frameshift_variant	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102968474delG	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1057delC	X.37:g.102968474delG	ENSP00000361700:p.Arg355fs					TMEM31_uc004elh.2_Intron	p.R353fs	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			8	1478	-			353			Extracellular (Potential).			Frame_Shift_Del	DEL	ENST00000372617.4	37	c.1057delC	CCDS43980.2																																																																																					0.517	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		6	52	6	52	---	---	---	---
