#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
CLCN6	1185	broad.mit.edu	37	1	11882784	11882784	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:11882784G>T	ENST00000346436.6	+	6	431	c.379G>T	c.(379-381)Gct>Tct	p.A127S	CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.A127S|CLCN6_ENST00000312413.6_Missense_Mutation_p.A127S|CLCN6_ENST00000376487.3_Missense_Mutation_p.A105S	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	127					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.A127S(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCTGCCTCGCTCTGTCTCT	0.542																																						uc001ate.3																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GCT>TCT		chloride channel 6 isoform ClC-6a							147.0	134.0	139.0					1																	11882784		2203	4300	6503	SO:0001583	missense	1185				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr1:11882784G>T	X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.379G>T	1.37:g.11882784G>T	ENSP00000234488:p.Ala127Ser					CLCN6_uc009vnf.1_Missense_Mutation_p.A127S|CLCN6_uc009vng.1_Missense_Mutation_p.A127S|CLCN6_uc009vnh.1_Missense_Mutation_p.A127S|CLCN6_uc010oat.1_5'UTR|CLCN6_uc010oau.1_Missense_Mutation_p.A105S	p.A127S	NM_001286	NP_001277	P51797	CLCN6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	6	492	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	127					A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	c.379G>T	CCDS138.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.643974	0.47258	.	.	ENSG00000011021	ENST00000312413;ENST00000346436;ENST00000376487;ENST00000376496;ENST00000376490;ENST00000376491;ENST00000376492	D;D;D;D	0.92446	-3.04;-2.91;-2.89;-2.91	5.26	5.26	0.73747	Chloride channel, core (2);	0.391771	0.31041	N	0.008367	D	0.83801	0.5333	N	0.10733	0.035	0.40043	D	0.97567	B;B;B;B;B	0.31040	0.026;0.047;0.305;0.305;0.015	B;B;B;B;B	0.32928	0.009;0.013;0.155;0.155;0.004	T	0.81892	-0.0724	10	0.21540	T	0.41	-25.6302	16.399	0.83632	0.0:0.0:1.0:0.0	.	105;127;127;127;127	F8W9R3;P51797-3;P51797-4;P51797-2;P51797	.;.;.;.;CLCN6_HUMAN	S	127;127;105;127;127;127;127	ENSP00000308367:A127S;ENSP00000234488:A127S;ENSP00000365670:A105S;ENSP00000365679:A127S	ENSP00000308367:A127S	A	+	1	0	CLCN6	11805371	1.000000	0.71417	0.989000	0.46669	0.961000	0.63080	4.886000	0.63149	2.614000	0.88457	0.561000	0.74099	GCT		PASS	0.542	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2	NM_001286		41	100	41	100	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12402955	12402955	+	Splice_Site	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:12402955G>A	ENST00000358136.3	+	42	8862		c.e42-1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.?(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)		TTTGGTTCCAGAGCTGCACTC	0.507																																						uc001atv.2																			1	Unknown(1)		lung(1)	ovary(4)|pancreas(1)	5						c.e42-1		vacuolar protein sorting 13D isoform 1							109.0	93.0	98.0					1																	12402955		2203	4300	6503	SO:0001630	splice_region_variant	55187				protein localization			g.chr1:12402955G>A	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.8733-1G>A	1.37:g.12402955G>A						VPS13D_uc001atw.2_Splice_Site_p.R2886_splice|VPS13D_uc001atx.2_Splice_Site_p.R2098_splice	p.R2911_splice	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)	42	8874	+	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)							Splice_Site	SNP	ENST00000358136.3	37	c.8733_splice	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272412	0.80580	.	.	ENSG00000048707	ENST00000356315;ENST00000358136;ENST00000011700	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4553	0.94884	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VPS13D	12325542	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	9.384000	0.97219	2.619000	0.88677	0.650000	0.86243	.		PASS	0.507	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378	Intron	18	38	18	38	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14142933	14142933	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:14142933G>A	ENST00000235372.7	+	9	5904	c.5048G>A	c.(5047-5049)cGc>cAc	p.R1683H	PRDM2_ENST00000376048.5_Missense_Mutation_p.A175T|PRDM2_ENST00000505823.1_Missense_Mutation_p.A11T|PRDM2_ENST00000503842.1_Missense_Mutation_p.A11T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1683					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R1683H(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TACAGCCTCCGCTTGGCGTCC	0.597																																						uc001avi.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(5047-5049)CGC>CAC		retinoblastoma protein-binding zinc finger							85.0	82.0	83.0					1																	14142933		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14142933G>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.5048G>A	1.37:g.14142933G>A	ENSP00000235372:p.Arg1683His					PRDM2_uc001avg.2_Missense_Mutation_p.A175T|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA	p.R1683H	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	9	5904	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1683					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.5048G>A	CCDS150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.578359|3.578359	0.65878|0.65878	.|.	.|.	ENSG00000116731|ENSG00000116731	ENST00000376048;ENST00000503842;ENST00000505823|ENST00000235372	T|T	0.56611|0.01647	0.45|4.71	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.64402	.|D	.|0.000018	T|T	0.03608|0.03608	0.0103|0.0103	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D|D	0.76494|0.76494	0.999|0.999	D|D	0.75020|0.76071	0.985|0.987	T|T	0.63857|0.63857	-0.6542|-0.6542	9|10	0.14252|0.72032	T|D	0.57|0.01	.|.	13.8205|13.8205	0.63318|0.63318	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175|1683	B1AJZ4|Q13029	.|PRDM2_HUMAN	T|H	175;11;11|1683	ENSP00000365216:A175T|ENSP00000235372:R1683H	ENSP00000365216:A175T|ENSP00000235372:R1683H	A|R	+|+	1|2	0|0	PRDM2|PRDM2	14015520|14015520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.414000|4.414000	0.59802|0.59802	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GCT|CGC		PASS	0.597	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		23	97	23	97	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27875979	27875979	+	Missense_Mutation	SNP	C	C	T	rs202145401		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:27875979C>T	ENST00000247087.5	-	5	3244	c.2648G>A	c.(2647-2649)cGg>cAg	p.R883Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.R883Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	883							DNA binding (GO:0003677)	p.R883Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCCAGGCCCCGCTGGGCAGG	0.692													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14363	0.0		0.0	False		,,,				2504	0.0					uc009vsy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2647-2649)CGG>CAG		AT hook, DNA binding motif, containing 1							20.0	24.0	23.0					1																	27875979		2200	4293	6493	SO:0001583	missense	27245						DNA binding	g.chr1:27875979C>T	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.2648G>A	1.37:g.27875979C>T	ENSP00000247087:p.Arg883Gln					AHDC1_uc009vsz.1_Missense_Mutation_p.R883Q	p.R883Q	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	3617	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	883					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.2648G>A	CCDS30652.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	20.9	4.066447	0.76187	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.63580	-0.05;-0.05	5.77	5.77	0.91146	.	0.000000	0.49305	D	0.000150	T	0.64080	0.2566	N	0.24115	0.695	0.50171	D	0.999854	D	0.67145	0.996	P	0.56612	0.802	T	0.67738	-0.5593	10	0.72032	D	0.01	-11.45	16.9005	0.86112	0.0:1.0:0.0:0.0	.	883	Q5TGY3	AHDC1_HUMAN	Q	883	ENSP00000247087:R883Q;ENSP00000363123:R883Q	ENSP00000247087:R883Q	R	-	2	0	AHDC1	27748566	1.000000	0.71417	1.000000	0.80357	0.462000	0.32619	3.991000	0.56973	2.723000	0.93209	0.655000	0.94253	CGG		PASS	0.692	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			13	31	13	31	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36205130	36205130	+	Splice_Site	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:36205130C>G	ENST00000318121.3	-	19	3201	c.3144G>C	c.(3142-3144)atG>atC	p.M1048I	CLSPN_ENST00000520551.1_Splice_Site_p.M995I|CLSPN_ENST00000373220.3_Splice_Site_p.M984I|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000251195.5_Splice_Site_p.M1048I	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1048					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.M1048I(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTCAACCTCCTAGAAAGCA	0.383																																						uc001bzi.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(3142-3144)ATG>ATC		claspin							157.0	148.0	151.0					1																	36205130		2203	4300	6503	SO:0001630	splice_region_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36205130C>G	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3144-1G>C	1.37:g.36205130C>G						CLSPN_uc009vux.2_Missense_Mutation_p.M984I	p.M1048I	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			19	3224	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1048					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.3144G>C	CCDS396.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.807096	0.31961	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.21361	2.01;2.01;2.01;2.02	5.6	5.6	0.85130	.	0.203234	0.49305	D	0.000147	T	0.10423	0.0255	N	0.05441	-0.05	0.47862	D	0.999531	B;B	0.22346	0.068;0.029	B;B	0.19391	0.025;0.019	T	0.25222	-1.0138	10	0.23891	T	0.37	.	9.7413	0.40420	0.0:0.776:0.1442:0.0798	.	984;1048	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	I	1048;1048;984;995	ENSP00000251195:M1048I;ENSP00000312995:M1048I;ENSP00000362317:M984I;ENSP00000428848:M995I	ENSP00000251195:M1048I	M	-	3	0	CLSPN	35977717	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	2.575000	0.46025	2.828000	0.97474	0.650000	0.86243	ATG		PASS	0.383	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	Missense_Mutation	60	185	60	185	---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46093979	46093979	+	Silent	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:46093979T>A	ENST00000290795.3	-	12	2595	c.1374A>T	c.(1372-1374)tcA>tcT	p.S458S	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000355105.3_Silent_p.S458S			Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	458					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S458S(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TTTCGGTGTCTGAGTCCTCAA	0.458																																						uc001coq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1372-1374)TCA>TCT		GC-rich promoter binding protein 1-like 1							179.0	172.0	174.0					1																	46093979		2203	4300	6503	SO:0001819	synonymous_variant	60313				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:46093979T>A		CCDS528.1	1p34.1	2008-02-05			ENSG00000159592	ENSG00000159592			28843	protein-coding gene	gene with protein product						12477932	Standard	NM_021639		Approved	SP192	uc001coq.3	Q9HC44	OTTHUMG00000040990	ENST00000290795.3:c.1374A>T	1.37:g.46093979T>A						GPBP1L1_uc001coo.2_Silent_p.S202S	p.S458S	NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN			13	2735	-	Acute lymphoblastic leukemia(166;0.155)		458					D3DQ10|Q9H751	Silent	SNP	ENST00000290795.3	37	c.1374A>T	CCDS528.1																																																																																				PASS	0.458	GPBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098375.1	NM_021639		113	289	113	289	---	---	---	---
TAL1	6886	broad.mit.edu	37	1	47691494	47691494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:47691494C>A	ENST00000294339.3	-	2	643	c.67G>T	c.(67-69)Gag>Tag	p.E23*	RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000371883.3_Nonsense_Mutation_p.E23*|TAL1_ENST00000371884.2_Nonsense_Mutation_p.E23*|TAL1_ENST00000459729.1_5'Flank	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	23					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.E23*(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ATGCTGGCCTCGGCCGCGTCC	0.731			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2				Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(67-69)GAG>TAG		T-cell acute lymphocytic leukemia 1							17.0	19.0	18.0					1																	47691494		1416	2830	4246	SO:0001587	stop_gained	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47691494C>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.67G>T	1.37:g.47691494C>A	ENSP00000294339:p.Glu23*					TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Nonsense_Mutation_p.E23*|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron	p.E23*	NM_003189	NP_003180	P17542	TAL1_HUMAN			2	644	-			23					D3DQ24	Nonsense_Mutation	SNP	ENST00000294339.3	37	c.67G>T	CCDS547.1	.	.	.	.	.	.	.	.	.	.	C	43	10.001643	0.99314	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	.	.	.	4.33	3.41	0.39046	.	0.370112	0.27100	N	0.020921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	8.6525	0.34044	0.0:0.8919:0.0:0.1081	.	.	.	.	X	23	.	ENSP00000294339:E23X	E	-	1	0	TAL1	47464081	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.219000	0.65262	1.956000	0.56807	0.555000	0.69702	GAG		PASS	0.731	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		7	32	7	32	---	---	---	---
DIO1	1733	broad.mit.edu	37	1	54371967	54371967	+	Splice_Site	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:54371967G>A	ENST00000361921.3	+	3	705	c.681G>A	c.(679-681)aaG>aaA	p.K227K	DIO1_ENST00000388876.3_Splice_Site_p.K179K|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Splice_Site_p.K163K|DIO1_ENST00000524406.1_Splice_Site_p.K98K|DIO1_ENST00000322679.6_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	227					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)	p.K227K(1)|p.K179K(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						TCCTCTACAAGGTGGTGACCT	0.592																																						uc010onx.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(679-681)AAG>AAA		deiodinase, iodothyronine, type I isoform a							23.0	22.0	22.0					1																	54371967		2203	4300	6503	SO:0001630	splice_region_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54371967G>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.681+1G>A	1.37:g.54371967G>A						DIO1_uc010onw.1_Silent_p.K163K|DIO1_uc009vzl.2_Intron|DIO1_uc001cwb.2_Silent_p.K179K|DIO1_uc010ony.1_Intron|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_Intron	p.K227K	NM_000792	NP_000783	P49895	IOD1_HUMAN			4	704	+			227					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	c.681G>A	CCDS41339.1																																																																																				PASS	0.592	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3		Silent	5	23	5	23	---	---	---	---
DAB1	1600	broad.mit.edu	37	1	57476433	57476433	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:57476433C>T	ENST00000371231.1	-	15	1736	c.1702G>A	c.(1702-1704)Gat>Aat	p.D568N	DAB1_ENST00000439789.2_Missense_Mutation_p.D449N|DAB1_ENST00000414851.2_Missense_Mutation_p.D517N|DAB1_ENST00000371234.4_Missense_Mutation_p.D535N|DAB1_ENST00000420954.2_Missense_Mutation_p.D533N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.D535N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	568					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)		p.D535N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CCAAATGGATCACTGTTGGAT	0.438																																						uc001cys.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1603-1605)GAT>AAT		disabled homolog 1							104.0	103.0	104.0					1																	57476433		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57476433C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1702G>A	1.37:g.57476433C>T	ENSP00000360275:p.Asp568Asn					DAB1_uc001cyt.1_Missense_Mutation_p.D533N|DAB1_uc001cyq.1_Missense_Mutation_p.D533N|DAB1_uc001cyr.1_Missense_Mutation_p.D449N|DAB1_uc009vzw.1_Missense_Mutation_p.D517N|DAB1_uc009vzx.1_Missense_Mutation_p.D535N	p.D535N	NM_021080	NP_066566	O75553	DAB1_HUMAN			16	2277	-			568					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.1603G>A		.	.	.	.	.	.	.	.	.	.	C	27.7	4.850835	0.91277	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231	T;T;T;T;T;T	0.58210	0.35;0.35;0.37;0.4;1.52;0.41	4.96	4.96	0.65561	.	0.221672	0.47093	D	0.000260	T	0.71005	0.3289	L	0.61218	1.895	0.53688	D	0.999977	P;P;P;D;D	0.67145	0.921;0.947;0.9;0.996;0.982	B;P;B;D;P	0.77557	0.311;0.507;0.295;0.99;0.763	T	0.72924	-0.4144	10	0.66056	D	0.02	-15.1535	18.7658	0.91871	0.0:1.0:0.0:0.0	.	517;568;535;449;533	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	N	535;535;535;533;517;449;568	ENSP00000360280:D535N;ENSP00000360278:D535N;ENSP00000395296:D533N;ENSP00000387581:D517N;ENSP00000409328:D449N;ENSP00000360275:D568N	ENSP00000360275:D568N	D	-	1	0	DAB1	57249021	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.534000	0.67167	2.728000	0.93425	0.561000	0.74099	GAT		PASS	0.438	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		70	122	70	122	---	---	---	---
INADL	10207	broad.mit.edu	37	1	62288639	62288639	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:62288639G>T	ENST00000371158.2	+	15	1820	c.1706G>T	c.(1705-1707)aGg>aTg	p.R569M	INADL_ENST00000316485.6_Missense_Mutation_p.R569M	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	569	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.R569M(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CACACTCTGAGGCTTGGTGTG	0.438																																						uc001dab.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1705-1707)AGG>ATG		InaD-like							229.0	208.0	215.0					1																	62288639		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62288639G>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1706G>T	1.37:g.62288639G>T	ENSP00000360200:p.Arg569Met					INADL_uc009waf.1_Missense_Mutation_p.R569M|INADL_uc001daa.2_Missense_Mutation_p.R569M|INADL_uc001dad.3_Missense_Mutation_p.R266M|INADL_uc001dac.2_RNA	p.R569M	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			15	1820	+			569			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.1706G>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297049	0.81025	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.39997	1.05;1.05	4.99	4.99	0.66335	PDZ/DHR/GLGF (3);	0.000000	0.64402	D	0.000002	T	0.62332	0.2419	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	T	0.64356	-0.6427	10	0.56958	D	0.05	.	17.8838	0.88849	0.0:0.0:1.0:0.0	.	569;569;569	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	M	569	ENSP00000360200:R569M;ENSP00000326199:R569M	ENSP00000255202:R569M	R	+	2	0	INADL	62061227	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.336000	0.90033	2.322000	0.78497	0.561000	0.74099	AGG		PASS	0.438	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		82	233	82	233	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66067114	66067114	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:66067114G>T	ENST00000349533.6	+	9	1219	c.1034G>T	c.(1033-1035)gGg>gTg	p.G345V	LEPR_ENST00000371058.1_Missense_Mutation_p.G345V|LEPR_ENST00000371059.3_Missense_Mutation_p.G345V|LEPR_ENST00000371060.3_Missense_Mutation_p.G345V|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.G345V	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					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.G345V(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)		ACAAGTGTTGGGTCTAATGTT	0.343																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1033-1035)GGG>GTG		leptin receptor isoform 1							116.0	112.0	113.0					1																	66067114		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66067114G>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	ENST00000349533.6:c.1034G>T	1.37:g.66067114G>T	ENSP00000330393:p.Gly345Val					LEPR_uc001dcg.2_Missense_Mutation_p.G345V|LEPR_uc001dch.2_Missense_Mutation_p.G345V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.G345V|LEPR_uc001dck.2_Missense_Mutation_p.G345V	p.G345V	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	9	1236	+			345			Extracellular (Potential).|Ig-like.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1034G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629377	0.46944	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	5.18	4.27	0.50696	Immunoglobulin-like (1);Immunoglobulin C2-set-like, ligand-binding (1);Immunoglobulin-like fold (1);	0.143214	0.64402	D	0.000006	D	0.88481	0.6448	M	0.77103	2.36	0.80722	D	1	D;D;D	0.61697	0.987;0.984;0.99	D;D;D	0.78314	0.991;0.961;0.947	D	0.90384	0.4390	10	0.87932	D	0	-16.4991	14.0509	0.64736	0.0725:0.0:0.9275:0.0	.	345;345;345	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	V	345	ENSP00000340884:G345V;ENSP00000330393:G345V;ENSP00000360099:G345V;ENSP00000360098:G345V;ENSP00000360097:G345V	ENSP00000340884:G345V	G	+	2	0	LEPR	65839702	1.000000	0.71417	0.119000	0.21687	0.574000	0.36063	5.215000	0.65241	1.416000	0.47057	-0.137000	0.14449	GGG		PASS	0.343	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		38	128	38	128	---	---	---	---
FPGT	8790	broad.mit.edu	37	1	74670301	74670301	+	Silent	SNP	T	T	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:74670301T>G	ENST00000609362.1	+	4	607	c.570T>G	c.(568-570)gcT>gcG	p.A190A	FPGT_ENST00000370894.5_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Silent_p.A203A	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	190					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.A190A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GCTTTACTGCTTTAGCTCATC	0.353																																						uc001dgb.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(568-570)GCT>GCG		fucose-1-phosphate guanyltransferase							115.0	112.0	113.0					1																	74670301		2203	4300	6503	SO:0001819	synonymous_variant	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670301T>G	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.570T>G	1.37:g.74670301T>G						TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.A190A	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	607	+			190					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.570T>G	CCDS663.1																																																																																				PASS	0.353	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				54	192	54	192	---	---	---	---
IFI44	10561	broad.mit.edu	37	1	79116279	79116279	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:79116279T>C	ENST00000370747.4	+	2	484	c.399T>C	c.(397-399)ctT>ctC	p.L133L	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	133					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.L133L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGGAAAATCTTGGACTTGCTC	0.333																																						uc001dip.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(397-399)CTT>CTC		interferon-induced, hepatitis C-associated							58.0	63.0	61.0					1																	79116279		2202	4299	6501	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79116279T>C	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.399T>C	1.37:g.79116279T>C						IFI44_uc010orr.1_Silent_p.L133L|IFI44_uc010ors.1_Intron	p.L133L	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			2	523	+			133					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.399T>C	CCDS688.1																																																																																				PASS	0.333	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		49	135	49	135	---	---	---	---
CDC7	8317	broad.mit.edu	37	1	91985764	91985764	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:91985764G>A	ENST00000428239.1	+	11	1517	c.1258G>A	c.(1258-1260)Gat>Aat	p.D420N	CDC7_ENST00000430031.2_Missense_Mutation_p.D392N|CDC7_ENST00000234626.6_Missense_Mutation_p.D420N	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D420N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGCAAGTGATGATTTAACTGC	0.353																																						uc001doe.2																			1	Substitution - Missense(1)		lung(1)	stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(1258-1260)GAT>AAT		cell division cycle 7							115.0	115.0	115.0					1																	91985764		2203	4300	6503	SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91985764G>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.1258G>A	1.37:g.91985764G>A	ENSP00000393139:p.Asp420Asn					CDC7_uc001dof.2_Missense_Mutation_p.D420N|CDC7_uc010osw.1_Missense_Mutation_p.D392N|CDC7_uc009wdc.2_Missense_Mutation_p.D420N|CDC7_uc009wdd.2_Intron	p.D420N	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	11	1423	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	420			Protein kinase.		D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	c.1258G>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.560524	0.96527	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239	T;T;T	0.64618	-0.11;-0.11;-0.11	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088799	0.85682	D	0.000000	T	0.67192	0.2867	L	0.33668	1.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67673	-0.5610	10	0.51188	T	0.08	-12.9074	19.8176	0.96576	0.0:0.0:1.0:0.0	.	392;420	B7Z5H7;O00311	.;CDC7_HUMAN	N	392;420;420	ENSP00000407477:D392N;ENSP00000234626:D420N;ENSP00000393139:D420N	ENSP00000234626:D420N	D	+	1	0	CDC7	91758352	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.594000	0.98254	2.690000	0.91761	0.455000	0.32223	GAT		PASS	0.353	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		46	107	46	107	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117576660	117576660	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:117576660G>C	ENST00000256652.4	+	9	3061	c.3003G>C	c.(3001-3003)ttG>ttC	p.L1001F	CD101_ENST00000369470.1_Missense_Mutation_p.L1001F|RP11-27K13.3_ENST00000421254.1_RNA|CD101_ENST00000467588.1_3'UTR|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	1001					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L1001F(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGGTGGACTTGAAAGAGGCTG	0.522																																						uc010oxb.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3001-3003)TTG>TTC		immunoglobulin superfamily, member 2 precursor							90.0	83.0	85.0					1																	117576660		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117576660G>C	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.3003G>C	1.37:g.117576660G>C	ENSP00000256652:p.Leu1001Phe					CD101_uc009whd.2_Missense_Mutation_p.L1001F|CD101_uc010oxc.1_Missense_Mutation_p.L1001F|CD101_uc010oxd.1_Missense_Mutation_p.L939F	p.L1001F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			9	3061	+			1001			Cytoplasmic (Potential).		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.3003G>C	CCDS891.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270748	0.80469	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.03920	3.76;3.76	5.31	5.31	0.75309	.	0.623356	0.13311	N	0.397448	T	0.03608	0.0103	N	0.24115	0.695	0.27226	N	0.959522	D	0.54047	0.964	P	0.51101	0.659	T	0.37731	-0.9693	10	0.66056	D	0.02	-2.3202	14.351	0.66702	0.0:0.0:1.0:0.0	.	1001	Q93033	IGSF2_HUMAN	F	1001	ENSP00000256652:L1001F;ENSP00000358482:L1001F	ENSP00000256652:L1001F	L	+	3	2	CD101	117378183	0.995000	0.38212	0.320000	0.25306	0.581000	0.36288	3.269000	0.51592	2.763000	0.94921	0.563000	0.77884	TTG		PASS	0.522	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		40	117	40	117	---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151107754	151107754	+	Nonsense_Mutation	SNP	G	G	A	rs199674348		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:151107754G>A	ENST00000341697.3	-	15	3156	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	489	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R489*(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGATCCGTCGTGCTGTTTGG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		21359	0.0		0.001	False		,,,				2504	0.0					uc001ewu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1465-1467)CGA>TGA		semaphorin Y precursor							150.0	137.0	141.0					1																	151107754		2203	4300	6503	SO:0001587	stop_gained	10500					integral to membrane	receptor activity	g.chr1:151107754G>A	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1465C>T	1.37:g.151107754G>A	ENSP00000344148:p.Arg489*					SEMA6C_uc001ewv.2_Nonsense_Mutation_p.R489*|SEMA6C_uc001eww.2_Nonsense_Mutation_p.R449*|SEMA6C_uc010pcq.1_Nonsense_Mutation_p.R489*	p.R489*	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		15	1765	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		489			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Nonsense_Mutation	SNP	ENST00000341697.3	37	c.1465C>T	CCDS984.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	40	8.515675	0.98845	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	.	.	.	4.82	2.91	0.33838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6051	0.28097	0.0:0.1636:0.4985:0.3378	.	.	.	.	X	489;449;489;489	.	ENSP00000344148:R489X	R	-	1	2	SEMA6C	149374378	.	.	0.979000	0.43373	0.994000	0.84299	.	.	0.623000	0.30267	0.561000	0.74099	CGA		PASS	0.562	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		52	100	52	100	---	---	---	---
FLAD1	80308	broad.mit.edu	37	1	154961012	154961012	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:154961012G>A	ENST00000292180.3	+	2	1126	c.804G>A	c.(802-804)atG>atA	p.M268I	FLAD1_ENST00000368432.1_Missense_Mutation_p.M171I|FLAD1_ENST00000315144.10_Missense_Mutation_p.M171I|FLAD1_ENST00000405236.2_Missense_Mutation_p.M169I|FLAD1_ENST00000368431.3_Missense_Mutation_p.M169I|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368433.1_Missense_Mutation_p.M268I|FLAD1_ENST00000295530.2_Start_Codon_SNP_p.M1I	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	268					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.M268I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGAGGGGATGAAGGGACTAT	0.567																																						uc001fgf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(802-804)ATG>ATA		flavin adenine dinucleotide synthetase isoform							41.0	39.0	40.0					1																	154961012		2203	4300	6503	SO:0001583	missense	80308				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	g.chr1:154961012G>A		CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.804G>A	1.37:g.154961012G>A	ENSP00000292180:p.Met268Ile					FLAD1_uc001fgc.2_Missense_Mutation_p.M169I|FLAD1_uc001fgd.1_Missense_Mutation_p.M268I|FLAD1_uc001fge.1_Missense_Mutation_p.M171I|FLAD1_uc001fgg.1_Missense_Mutation_p.M171I|FLAD1_uc001fgh.1_Missense_Mutation_p.M1I	p.M268I	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		2	1158	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		268					Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	c.804G>A	CCDS1078.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429260	0.25726	.	.	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236;ENST00000295530	T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.51	0.306	0.15806	Molybdopterin binding (3);	0.079225	0.52532	D	0.000073	T	0.13243	0.0321	N	0.00811	-1.165	0.09310	N	1	B;B;B	0.10296	0.001;0.001;0.003	B;B;B	0.01281	0.0;0.0;0.0	T	0.34378	-0.9831	10	0.38643	T	0.18	-8.8862	3.253	0.06822	0.2592:0.1065:0.5251:0.1092	.	1;268;169	Q5T191;Q8NFF5;Q8NFF5-4	.;FAD1_HUMAN;.	I	268;171;171;169;268;169;1	ENSP00000357418:M268I;ENSP00000317296:M171I;ENSP00000357417:M171I;ENSP00000357416:M169I;ENSP00000292180:M268I;ENSP00000384323:M169I	ENSP00000292180:M268I	M	+	3	0	FLAD1	153227636	0.000000	0.05858	0.788000	0.31933	0.788000	0.44548	-0.831000	0.04405	0.140000	0.18849	-0.258000	0.10820	ATG		PASS	0.567	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1	NM_025207		29	44	29	44	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157803066	157803066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:157803066C>A	ENST00000368174.4	-	5	1051	c.955G>T	c.(955-957)Gag>Tag	p.E319*	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	319	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.E319*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGGACTGCTCCTCCCCTGAG	0.582																																						uc001frk.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(955-957)GAG>TAG		CD5 molecule-like precursor							97.0	94.0	95.0					1																	157803066		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803066C>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.955G>T	1.37:g.157803066C>A	ENSP00000357156:p.Glu319*						p.E319*	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1098	-	all_hematologic(112;0.0378)		319			SRCR 3.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.955G>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788551	0.90367	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.56	0.76237	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000357156:E319X	E	-	1	0	CD5L	156069690	1.000000	0.71417	0.121000	0.21740	0.359000	0.29487	7.378000	0.79679	2.513000	0.84729	0.655000	0.94253	GAG		PASS	0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		46	116	46	116	---	---	---	---
OR10K2	391107	broad.mit.edu	37	1	158390312	158390312	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:158390312C>T	ENST00000314902.2	-	1	344	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CCATGACTGCCAGCAGAAAGG	0.512																																						uc010pii.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(343-345)CTG>CTA		olfactory receptor, family 10, subfamily K,							171.0	168.0	169.0					1																	158390312		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390312C>T	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.345G>A	1.37:g.158390312C>T							p.L115L	NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN			1	345	-	all_hematologic(112;0.0378)		115			Helical; Name=3; (Potential).			Silent	SNP	ENST00000314902.2	37	c.345G>A	CCDS30896.1																																																																																				PASS	0.512	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		50	168	50	168	---	---	---	---
IGSF8	93185	broad.mit.edu	37	1	160063105	160063105	+	Silent	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:160063105C>G	ENST00000368086.1	-	4	1137	c.921G>C	c.(919-921)gtG>gtC	p.V307V	IGSF8_ENST00000460351.1_5'Flank|IGSF8_ENST00000314485.7_Silent_p.V307V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	307	Ig-like C2-type 3.				cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V307V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCCCACTGTCACTGCCAGCT	0.612																																						uc001fva.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(919-921)GTG>GTC		immunoglobulin superfamily, member 8							39.0	38.0	38.0					1																	160063105		2203	4299	6502	SO:0001819	synonymous_variant	93185				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	g.chr1:160063105C>G	AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.921G>C	1.37:g.160063105C>G						IGSF8_uc001fuz.2_Silent_p.V307V|IGSF8_uc009wtf.2_Silent_p.V307V	p.V307V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		4	966	-	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		307			Ig-like C2-type 3.|Extracellular (Potential).		Q8NG09|Q96DP4|Q9BTG9	Silent	SNP	ENST00000368086.1	37	c.921G>C	CCDS1195.1																																																																																				PASS	0.612	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1	NM_052868		17	44	17	44	---	---	---	---
RC3H1	149041	broad.mit.edu	37	1	173931144	173931144	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:173931144G>A	ENST00000367696.2	-	12	2272	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.H641Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.H641Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	641	Pro-rich.				B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H641Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGTGGATAATGATCCAAGTAG	0.502																																						uc001gju.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1921-1923)CAT>TAT		roquin							160.0	150.0	153.0					1																	173931144		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173931144G>A	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.1921C>T	1.37:g.173931144G>A	ENSP00000356669:p.His641Tyr					RC3H1_uc010pms.1_Missense_Mutation_p.H641Y|RC3H1_uc001gjv.2_Missense_Mutation_p.H641Y|RC3H1_uc010pmt.1_Missense_Mutation_p.H641Y	p.H641Y	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			11	2008	-			641			Pro-rich.		B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.1921C>T	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316782	0.81469	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.46819	0.86;0.86;0.86	5.61	5.61	0.85477	.	0.047816	0.85682	D	0.000000	T	0.39226	0.1070	L	0.53249	1.67	0.48087	D	0.999587	P;P;D;P	0.53745	0.936;0.936;0.962;0.936	B;B;P;B	0.45681	0.295;0.295;0.49;0.295	T	0.11991	-1.0565	10	0.23891	T	0.37	-18.6841	19.6436	0.95767	0.0:0.0:1.0:0.0	.	641;641;641;641	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	Y	641	ENSP00000356669:H641Y;ENSP00000258349:H641Y;ENSP00000356667:H641Y	ENSP00000258349:H641Y	H	-	1	0	RC3H1	172197767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.177000	0.77650	2.621000	0.88768	0.650000	0.86243	CAT		PASS	0.502	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		37	108	37	108	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177226393	177226393	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:177226393G>T	ENST00000361539.4	+	4	854	c.542G>T	c.(541-543)gGg>gTg	p.G181V	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	181	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.G181V(1)									TCTATAATCGGGGGCAGTGGG	0.557																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(541-543)GGG>GTG		family with sequence similarity 5, member B							68.0	67.0	67.0					1																	177226393		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177226393G>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.542G>T	1.37:g.177226393G>T	ENSP00000354481:p.Gly181Val					FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.2_Missense_Mutation_p.G76V	p.G181V	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			4	854	+			181					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.542G>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	9.051	0.992127	0.18966	.	.	ENSG00000198797	ENST00000361539	T	0.14516	2.5	5.35	3.42	0.39159	Membrane attack complex component/perforin (MACPF) domain (1);	0.125510	0.35805	N	0.002961	T	0.10766	0.0263	L	0.40543	1.245	0.51482	D	0.999923	P;B	0.39282	0.666;0.001	B;B	0.36845	0.234;0.003	T	0.11179	-1.0598	10	0.41790	T	0.15	-12.9241	8.1449	0.31106	0.0:0.1549:0.6431:0.202	.	76;181	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	V	181	ENSP00000354481:G181V	ENSP00000354481:G181V	G	+	2	0	FAM5B	175493016	0.992000	0.36948	0.896000	0.35187	0.058000	0.15608	2.321000	0.43805	0.575000	0.29434	-0.165000	0.13383	GGG		PASS	0.557	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		14	55	14	55	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178252763	178252763	+	Silent	SNP	G	G	C	rs368634100	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:178252763G>C	ENST00000367649.3	+	2	619	c.267G>C	c.(265-267)acG>acC	p.T89T	RASAL2_ENST00000448150.3_Silent_p.T71T|RASAL2_ENST00000465723.1_3'UTR			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.T71T(1)|p.T89T(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGACAACAACGTGGGAGCGGA	0.463																																						uc001glq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|large_intestine(1)	5						c.(265-267)ACG>ACC		RAS protein activator like 2 isoform 2		G		1,4405	2.1+/-5.4	0,1,2202	191.0	160.0	170.0		267	-3.0	1.0	1		170	0,8600		0,0,4300	no	coding-synonymous	RASAL2	NM_170692.2		0,1,6502	CC,CG,GG		0.0,0.0227,0.0077		89/1281	178252763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178252763G>C	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.267G>C	1.37:g.178252763G>C						RASAL2_uc009wxb.2_Silent_p.T89T	p.T89T	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN			2	1031	+			Error:Variant_position_missing_in_Q9UJF2_after_alignment					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000367649.3	37	c.267G>C	CCDS1321.2																																																																																				PASS	0.463	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352415.1	NM_170692		83	198	83	198	---	---	---	---
LPGAT1	9926	broad.mit.edu	37	1	211952357	211952357	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:211952357T>A	ENST00000366997.4	-	6	983	c.757A>T	c.(757-759)Ata>Tta	p.I253L	LPGAT1_ENST00000366996.1_Missense_Mutation_p.I253L	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	253					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)	p.I253L(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GTTGTATCTATTATCCACTGG	0.338																																						uc001hiu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(757-759)ATA>TTA		lysophosphatidylglycerol acyltransferase 1							149.0	153.0	151.0					1																	211952357		2203	4300	6503	SO:0001583	missense	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211952357T>A	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.757A>T	1.37:g.211952357T>A	ENSP00000355964:p.Ile253Leu					LPGAT1_uc001hiv.2_Missense_Mutation_p.I253L	p.I253L	NM_014873	NP_055688	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	6	1570	-			253					Q53YL2	Missense_Mutation	SNP	ENST00000366997.4	37	c.757A>T	CCDS31018.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933062	0.34096	.	.	ENSG00000123684	ENST00000366997;ENST00000366996	T;T	0.28454	1.61;1.61	5.89	5.89	0.94794	.	0.036291	0.85682	D	0.000000	T	0.26521	0.0648	L	0.31845	0.965	0.80722	D	1	B	0.32918	0.39	B	0.31290	0.127	T	0.03068	-1.1076	10	0.39692	T	0.17	-29.7876	16.3625	0.83273	0.0:0.0:0.0:1.0	.	253	Q92604	LGAT1_HUMAN	L	253	ENSP00000355964:I253L;ENSP00000355963:I253L	ENSP00000355963:I253L	I	-	1	0	LPGAT1	210018980	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.892000	0.48625	2.265000	0.75225	0.449000	0.29647	ATA		PASS	0.338	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		93	253	93	253	---	---	---	---
TMEM206	55248	broad.mit.edu	37	1	212583816	212583816	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:212583816G>A	ENST00000261455.4	-	2	221	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TMEM206_ENST00000471937.1_5'UTR|TMEM206_ENST00000535273.1_Silent_p.D89D	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	28						cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D28D(1)		breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGTCCTGCTCGTCTGCCAGCT	0.542																																						uc001hjc.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(82-84)GAC>GAT		transmembrane protein 206							339.0	290.0	306.0					1																	212583816		2203	4300	6503	SO:0001819	synonymous_variant	55248					integral to membrane		g.chr1:212583816G>A	AK024066	CCDS1504.1, CCDS55687.1	1q32.3	2008-02-05	2008-01-17	2008-01-17	ENSG00000065600	ENSG00000065600			25593	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 75"""	C1orf75		12477932	Standard	NM_018252		Approved	FLJ10874	uc010pte.2	Q9H813	OTTHUMG00000036751	ENST00000261455.4:c.84C>T	1.37:g.212583816G>A						TMEM206_uc010pte.1_Silent_p.D89D	p.D28D	NM_018252	NP_060722	Q9H813	TM206_HUMAN		all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)	2	252	-			28			Cytoplasmic (Potential).		B7Z4D6|Q6IA87|Q9NV85	Silent	SNP	ENST00000261455.4	37	c.84C>T	CCDS1504.1																																																																																				PASS	0.542	TMEM206-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089306.1	NM_018252		149	400	149	400	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215793754	215793754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:215793754G>T	ENST00000259154.4	+	18	2536	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	748					protein homooligomerization (GO:0051260)			p.E748*(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGATGAAAATGAAAATAAAAT	0.368																																						uc001hks.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(2242-2244)GAA>TAA		potassium channel tetramerisation domain							64.0	69.0	67.0					1																	215793754		2199	4294	6493	SO:0001587	stop_gained	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793754G>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2242G>T	1.37:g.215793754G>T	ENSP00000259154:p.Glu748*					KCTD3_uc001hkt.2_Nonsense_Mutation_p.E746*|KCTD3_uc010pub.1_Nonsense_Mutation_p.E646*|KCTD3_uc009xdn.2_Nonsense_Mutation_p.E472*	p.E748*	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2536	+			748					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Nonsense_Mutation	SNP	ENST00000259154.4	37	c.2242G>T	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	41	9.026917	0.99040	.	.	ENSG00000136636	ENST00000259154	.	.	.	5.81	5.81	0.92471	.	0.483826	0.24547	N	0.037585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-27.2081	20.073	0.97731	0.0:0.0:1.0:0.0	.	.	.	.	X	748	.	ENSP00000259154:E748X	E	+	1	0	KCTD3	213860377	1.000000	0.71417	0.902000	0.35471	0.994000	0.84299	6.248000	0.72418	2.750000	0.94351	0.655000	0.94253	GAA		PASS	0.368	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		43	115	43	115	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215847890	215847890	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:215847890T>C	ENST00000307340.3	-	63	13749	c.13363A>G	c.(13363-13365)Aca>Gca	p.T4455A	USH2A_ENST00000366943.2_Missense_Mutation_p.T4455A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4455	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4455A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGAGCCTGTGACTTGCAAT	0.468										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13363-13365)ACA>GCA		usherin isoform B							102.0	101.0	101.0					1																	215847890		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847890T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13363A>G	1.37:g.215847890T>C	ENSP00000305941:p.Thr4455Ala	HNSCC(13;0.011)					p.T4455A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13750	-			4455			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13363A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.394649	0.62066	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56941	0.43;0.43	4.41	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.422384	0.17550	U	0.170207	T	0.57475	0.2056	L	0.46157	1.445	0.46927	D	0.999257	D	0.56746	0.977	P	0.55011	0.766	T	0.51172	-0.8739	10	0.21540	T	0.41	.	13.9406	0.64052	0.0:0.0:0.0:1.0	.	4455	O75445	USH2A_HUMAN	A	4455	ENSP00000305941:T4455A;ENSP00000355910:T4455A	ENSP00000305941:T4455A	T	-	1	0	USH2A	213914513	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	7.685000	0.84117	1.754000	0.51921	0.383000	0.25322	ACA		PASS	0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		54	167	54	167	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222800953	222800953	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:222800953G>A	ENST00000344922.5	+	4	416	c.391G>A	c.(391-393)Gat>Aat	p.D131N	MIA3_ENST00000344441.6_Missense_Mutation_p.D131N|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.D131N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	131					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D131N(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGGAAGAGATGATTTTCATAA	0.348																																						uc001hnl.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(391-393)GAT>AAT		melanoma inhibitory activity family, member 3							135.0	132.0	133.0					1																	222800953		1816	4074	5890	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222800953G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.391G>A	1.37:g.222800953G>A	ENSP00000340900:p.Asp131Asn					MIA3_uc009xea.1_5'UTR	p.D131N	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	400	+			131			Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.391G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704117	0.48412	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	D;D;D	0.89196	-2.48;-2.48;-2.48	5.47	4.56	0.56223	.	.	.	.	.	D	0.83613	0.5292	L	0.45137	1.4	0.30086	N	0.808714	P	0.49253	0.921	B	0.38880	0.284	T	0.81495	-0.0907	9	0.66056	D	0.02	.	10.7295	0.46087	0.1469:0.0:0.8531:0.0	.	131	Q5JRA6	MIA3_HUMAN	N	131	ENSP00000340900:D131N;ENSP00000340587:D131N;ENSP00000341348:D131N	ENSP00000325973:D131N	D	+	1	0	MIA3	220867576	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.515000	0.35845	1.441000	0.47550	0.585000	0.79938	GAT		PASS	0.348	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		94	320	94	320	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226923839	226923839	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:226923839C>T	ENST00000272117.3	-	1	1320	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	ITPKB_ENST00000366784.1_Missense_Mutation_p.D441N|ITPKB_ENST00000429204.1_Missense_Mutation_p.D441N			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	441					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.D441N(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TCCACTCTGTCGGAGAGCTGC	0.711																																					Colon(84;110 1851 5306 33547)	uc010pvo.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1321-1323)GAC>AAC		1D-myo-inositol-trisphosphate 3-kinase B							16.0	21.0	19.0					1																	226923839		2151	4253	6404	SO:0001583	missense	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226923839C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.1321G>A	1.37:g.226923839C>T	ENSP00000272117:p.Asp441Asn					ITPKB_uc001hqh.2_Missense_Mutation_p.D441N	p.D441N	NM_002221	NP_002212	P27987	IP3KB_HUMAN			2	1661	-		Prostate(94;0.0773)	441					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	ENST00000272117.3	37	c.1321G>A	CCDS1555.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.128034	0.56721	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.24723	1.85;1.85;1.84	4.7	-1.37	0.09056	.	1.727610	0.02713	N	0.113097	T	0.13586	0.0329	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18178	-1.0345	10	0.15952	T	0.53	-1.1974	6.188	0.20508	0.0:0.3953:0.3808:0.2239	.	441	P27987	IP3KB_HUMAN	N	441	ENSP00000272117:D441N;ENSP00000411152:D441N;ENSP00000355748:D441N	ENSP00000272117:D441N	D	-	1	0	ITPKB	224990462	0.000000	0.05858	0.000000	0.03702	0.799000	0.45148	-3.153000	0.00581	-0.337000	0.08426	0.484000	0.47621	GAC		PASS	0.711	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		9	30	9	30	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370892	240370892	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr1:240370892C>A	ENST00000319653.9	+	5	3010	c.2780C>A	c.(2779-2781)cCc>cAc	p.P927H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	927	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1070H(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGCCTCTACCCGGAGCAGGC	0.677																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2779-2781)CCC>CAC		formin 2							41.0	48.0	45.0					1																	240370892		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370892C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2780C>A	1.37:g.240370892C>A	ENSP00000318884:p.Pro927His					FMN2_uc010pye.1_Missense_Mutation_p.P931H	p.P927H	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3005	+	Ovarian(103;0.127)	all_cancers(173;0.013)	927			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2780C>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800828	0.31869	.	.	ENSG00000155816	ENST00000319653	T	0.57273	0.41	3.5	3.5	0.40072	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.101886	0.42420	D	0.000711	T	0.75384	0.3842	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.81782	-0.0775	9	.	.	.	.	15.5208	0.75866	0.0:1.0:0.0:0.0	.	927	Q9NZ56	FMN2_HUMAN	H	927	ENSP00000318884:P927H	.	P	+	2	0	FMN2	238437515	0.000000	0.05858	0.020000	0.16555	0.004000	0.04260	-3.582000	0.00424	1.945000	0.56424	0.484000	0.47621	CCC		PASS	0.677	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		23	78	23	78	---	---	---	---
GREB1	9687	broad.mit.edu	37	2	11751043	11751043	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:11751043C>T	ENST00000381486.2	+	18	3196	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	GREB1_ENST00000396123.1_5'Flank|GREB1_ENST00000234142.5_Missense_Mutation_p.R966W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	966						integral component of membrane (GO:0016021)		p.R966W(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCTATGAGCGGCTGGCCCA	0.677																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2896-2898)CGG>TGG		growth regulation by estrogen in breast cancer 1							14.0	17.0	16.0					2																	11751043		2012	4147	6159	SO:0001583	missense	9687					integral to membrane		g.chr2:11751043C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2896C>T	2.37:g.11751043C>T	ENSP00000370896:p.Arg966Trp					GREB1_uc002rbo.1_Missense_Mutation_p.R600W|GREB1_uc002rbp.1_5'Flank	p.R966W	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	18	3196	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		966					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.2896C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009340	0.93346	.	.	ENSG00000196208	ENST00000381486;ENST00000234142	T;T	0.54071	0.59;0.59	5.17	5.17	0.71159	.	0.081621	0.49916	D	0.000126	T	0.73071	0.3540	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76457	-0.2952	10	0.87932	D	0	-40.3101	18.6683	0.91501	0.0:1.0:0.0:0.0	.	966	Q4ZG55	GREB1_HUMAN	W	966	ENSP00000370896:R966W;ENSP00000234142:R966W	ENSP00000234142:R966W	R	+	1	2	GREB1	11668494	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	4.565000	0.60836	2.410000	0.81850	0.563000	0.77884	CGG		PASS	0.677	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		16	33	16	33	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24524030	24524030	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:24524030T>A	ENST00000355123.4	-	11	1517	c.1074A>T	c.(1072-1074)aaA>aaT	p.K358N	ITSN2_ENST00000406921.3_Missense_Mutation_p.K358N|ITSN2_ENST00000361999.3_Missense_Mutation_p.K358N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	358					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.K357N(1)|p.K358N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTGGTAATTTCTTCTGAG	0.294																																						uc002rfe.2																			2	Substitution - Missense(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(1072-1074)AAA>AAT		intersectin 2 isoform 1							87.0	85.0	86.0					2																	24524030		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24524030T>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1074A>T	2.37:g.24524030T>A	ENSP00000347244:p.Lys358Asn					ITSN2_uc002rff.2_Missense_Mutation_p.K358N|ITSN2_uc002rfg.2_Missense_Mutation_p.K358N|ITSN2_uc010eyd.2_Missense_Mutation_p.K383N	p.K358N	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			11	1332	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		358					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1074A>T	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	T	19.12	3.765790	0.69878	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;T	0.81247	0.19;0.22;0.19;0.65;-1.47	5.36	2.92	0.33932	.	0.000000	0.36034	U	0.002830	D	0.86356	0.5913	M	0.72894	2.215	0.39137	D	0.961979	D;D;D;P	0.76494	0.999;0.999;0.999;0.602	D;D;D;P	0.75020	0.971;0.971;0.985;0.7	D	0.86296	0.1677	10	0.56958	D	0.05	.	8.837	0.35117	0.0:0.2202:0.0:0.7798	.	358;358;358;358	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	N	358;358;358;382;358;383	ENSP00000354561:K358N;ENSP00000347244:K358N;ENSP00000370250:K358N;ENSP00000384499:K358N;ENSP00000391224:K383N	ENSP00000347244:K358N	K	-	3	2	ITSN2	24377534	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	2.294000	0.43567	0.976000	0.38417	0.402000	0.26972	AAA		PASS	0.294	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		44	141	44	141	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27803210	27803210	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:27803210T>C	ENST00000408964.2	+	1	3822	c.3771T>C	c.(3769-3771)acT>acC	p.T1257T	ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1257						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.T1257T(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATGAATTCACTCAAGTTCACA	0.448																																						uc002rkz.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(3769-3771)ACT>ACC		hypothetical protein LOC84226							103.0	102.0	102.0					2																	27803210		1866	4121	5987	SO:0001819	synonymous_variant	84226							g.chr2:27803210T>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3771T>C	2.37:g.27803210T>C						ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.T1257T	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3822	+	Acute lymphoblastic leukemia(172;0.155)		1257					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.3771T>C	CCDS42666.1																																																																																				PASS	0.448	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		71	184	71	184	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31588976	31588976	+	Splice_Site	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:31588976C>G	ENST00000379416.3	-	22	2371		c.e22-1			NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAACAAAGCTCTGTGAGTGAA	0.493																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Unknown(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.e22-1		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						123.0	118.0	120.0					2																	31588976		2203	4300	6503	SO:0001630	splice_region_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31588976C>G	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2323-1G>C	2.37:g.31588976C>G							p.S775_splice	NM_000379	NP_000370	P47989	XDH_HUMAN			22	2402	-	Acute lymphoblastic leukemia(172;0.155)							Q16681|Q16712|Q4PJ16	Splice_Site	SNP	ENST00000379416.3	37	c.2323_splice	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509968	0.64522	.	.	ENSG00000158125	ENST00000379416	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7034	0.96065	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XDH	31442480	1.000000	0.71417	0.091000	0.20842	0.609000	0.37215	7.431000	0.80335	2.756000	0.94617	0.561000	0.74099	.		PASS	0.493	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	Intron	47	142	47	142	---	---	---	---
EFEMP1	2202	broad.mit.edu	37	2	56102098	56102098	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:56102098C>G	ENST00000394555.2	-	8	1418	c.983G>C	c.(982-984)aGa>aCa	p.R328T	EFEMP1_ENST00000355426.3_Missense_Mutation_p.R328T|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R328T|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R190T	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	328	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)	p.R328T(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGTTCTACTTCTCACCACTTG	0.378																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(982-984)AGA>ACA		EGF-containing fibulin-like extracellular matrix							125.0	113.0	117.0					2																	56102098		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56102098C>G	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.983G>C	2.37:g.56102098C>G	ENSP00000378058:p.Arg328Thr					EFEMP1_uc002rzi.2_Missense_Mutation_p.R328T|EFEMP1_uc002rzj.2_Missense_Mutation_p.R328T|EFEMP1_uc010ypc.1_Missense_Mutation_p.R190T	p.R328T	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		8	1313	-			328			EGF-like 5; calcium-binding (Potential).|Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.983G>C	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227813	0.58777	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.94576	-3.46;-3.46;-1.53;-3.46	5.5	5.5	0.81552	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.276975	0.30593	N	0.009292	D	0.92922	0.7748	N	0.17474	0.49	0.43338	D	0.99538	D;B	0.54601	0.967;0.053	P;B	0.52554	0.702;0.035	D	0.93809	0.7108	10	0.56958	D	0.05	.	19.4513	0.94869	0.0:1.0:0.0:0.0	.	190;328	B4DW75;Q12805	.;FBLN3_HUMAN	T	328;328;184;190;328	ENSP00000378058:R328T;ENSP00000378057:R328T;ENSP00000399145:R190T;ENSP00000347596:R328T	ENSP00000347596:R328T	R	-	2	0	EFEMP1	55955602	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.100000	0.57762	2.604000	0.88044	0.478000	0.44815	AGA		PASS	0.378	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			40	104	40	104	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688727	60688727	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:60688727G>A	ENST00000335712.6	-	4	1547	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	BCL11A_ENST00000358510.4_Silent_p.D406D|BCL11A_ENST00000356842.4_Silent_p.D440D|BCL11A_ENST00000538214.1_Silent_p.D406D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.D109D|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	440					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.D440D(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGAGAGACCGTCGTCGGACT	0.647			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - coding silent(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1318-1320)GAC>GAT		B-cell CLL/lymphoma 11A isoform 1							72.0	67.0	69.0					2																	60688727		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688727G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1320C>T	2.37:g.60688727G>A						BCL11A_uc002sab.2_Silent_p.D440D|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Silent_p.D109D|BCL11A_uc010ypj.1_Silent_p.D406D|BCL11A_uc002sad.1_Silent_p.D288D|BCL11A_uc002saf.1_Silent_p.D406D	p.D440D	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1548	-			440					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.1320C>T	CCDS1862.1																																																																																				PASS	0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		31	62	31	62	---	---	---	---
TMEM17	200728	broad.mit.edu	37	2	62728573	62728573	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:62728573G>T	ENST00000335390.5	-	4	579	c.368C>A	c.(367-369)cCt>cAt	p.P123H		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	123					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.P123H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AAGAATTAAAGGTAACTGCAA	0.373																																						uc002sbt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(367-369)CCT>CAT		transmembrane protein 17							73.0	81.0	78.0					2																	62728573		2203	4300	6503	SO:0001583	missense	200728					integral to membrane		g.chr2:62728573G>T		CCDS1871.1	2p15	2008-02-05			ENSG00000186889	ENSG00000186889			26623	protein-coding gene	gene with protein product		614950				12477932	Standard	NM_198276		Approved	FLJ34583	uc002sbt.2	Q86X19	OTTHUMG00000129455	ENST00000335390.5:c.368C>A	2.37:g.62728573G>T	ENSP00000335094:p.Pro123His					TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	p.P123H	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)		4	708	-	Lung NSC(7;0.0274)|all_lung(7;0.0568)		123			Helical; (Potential).		Q53QP7|Q53R98	Missense_Mutation	SNP	ENST00000335390.5	37	c.368C>A	CCDS1871.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218526	0.79464	.	.	ENSG00000186889	ENST00000335390	D	0.89810	-2.57	5.8	5.8	0.92144	.	0.045868	0.85682	D	0.000000	D	0.95686	0.8597	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95691	0.8740	10	0.72032	D	0.01	-14.7024	20.0567	0.97653	0.0:0.0:1.0:0.0	.	123	Q86X19	TMM17_HUMAN	H	123	ENSP00000335094:P123H	ENSP00000335094:P123H	P	-	2	0	TMEM17	62582077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.240000	0.78192	2.752000	0.94435	0.650000	0.86243	CCT		PASS	0.373	TMEM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251618.3	NM_198276		42	105	42	105	---	---	---	---
THNSL2	55258	broad.mit.edu	37	2	88478390	88478390	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:88478390G>A	ENST00000324166.5	+	4	2351	c.660G>A	c.(658-660)ctG>ctA	p.L220L	THNSL2_ENST00000358591.2_Silent_p.L220L|THNSL2_ENST00000343544.4_Silent_p.L220L|THNSL2_ENST00000449349.1_Silent_p.L188L|THNSL2_ENST00000402102.1_Silent_p.L220L|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Silent_p.L220L	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	220					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)	p.L220L(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TGATGAGCCTGAATTCGATCA	0.547																																						uc002ssz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(658-660)CTG>CTA		threonine synthase-like 2							250.0	221.0	231.0					2																	88478390		2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88478390G>A		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.660G>A	2.37:g.88478390G>A						THNSL2_uc002ssv.2_RNA|THNSL2_uc002ssw.3_Silent_p.L220L|THNSL2_uc002ssx.3_Silent_p.L188L|THNSL2_uc002sta.3_Silent_p.L62L|THNSL2_uc002ssy.3_Silent_p.L220L|THNSL2_uc010fhe.2_Silent_p.L62L	p.L220L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN			5	813	+			220					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.660G>A	CCDS2002.2																																																																																				PASS	0.547	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		123	277	123	277	---	---	---	---
IGKV1D-43	28891	broad.mit.edu	37	2	90249305	90249305	+	RNA	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:90249305T>A	ENST00000468879.1	+	0	442									immunoglobulin kappa variable 1D-43																		TCAGCGGCAGTGGATCTGGGA	0.468																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							179.0	172.0	174.0					2																	90249305		1896	4109	6005			0							g.chr2:90249305T>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249305T>A														28		+									RNA	SNP	ENST00000468879.1	37	c.3848T>A																																																																																					PASS	0.468	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		97	234	97	234	---	---	---	---
STARD7-AS1	285033	broad.mit.edu	37	2	96906104	96906104	+	RNA	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:96906104G>A	ENST00000446816.1	+	0	564																											TCCTCAGTATGTGAGACTGTT	0.393																																						uc002svp.1																			0					0						c.(43-45)GTG>ATG		hypothetical protein LOC285033							74.0	71.0	72.0					2																	96906104		1860	4097	5957			285033							g.chr2:96906104G>A																													2.37:g.96906104G>A						LOC285033_uc002svn.2_RNA|LOC285033_uc002svo.2_Intron	p.V15M	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN			1	128	+			15						Missense_Mutation	SNP	ENST00000446816.1	37	c.43G>A																																																																																					PASS	0.393	AC012307.3-001	KNOWN	basic|exp_conf	antisense	processed_transcript	OTTHUMT00000338796.1			27	74	27	74	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520132	131520132	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:131520132C>T	ENST00000423981.1	+	2	597	c.487C>T	c.(487-489)Cta>Tta	p.L163L	AMER3_ENST00000321420.4_Silent_p.L163L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	163					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.L163L(1)									CTTTCGGAACCTATTCCACAT	0.617																																						uc002trw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(487-489)CTA>TTA		hypothetical protein LOC205147							59.0	61.0	60.0					2																	131520132		2193	4294	6487	SO:0001819	synonymous_variant	205147							g.chr2:131520132C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.487C>T	2.37:g.131520132C>T						FAM123C_uc010fmv.2_Silent_p.L163L|FAM123C_uc010fms.1_Silent_p.L163L|FAM123C_uc010fmt.1_Silent_p.L163L|FAM123C_uc010fmu.1_Silent_p.L163L	p.L163L	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	677	+	Colorectal(110;0.1)		163					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.487C>T	CCDS2164.1																																																																																				PASS	0.617	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		25	94	25	94	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152483674	152483674	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:152483674C>A	ENST00000172853.10	-	66	9607	c.9460G>T	c.(9460-9462)Gtc>Ttc	p.V3154F	NEB_ENST00000409198.1_Missense_Mutation_p.V3154F|NEB_ENST00000603639.1_Missense_Mutation_p.V3397F|NEB_ENST00000604864.1_Missense_Mutation_p.V3397F|NEB_ENST00000427231.2_Missense_Mutation_p.V3397F|NEB_ENST00000397345.3_Missense_Mutation_p.V3397F			P20929	NEBU_HUMAN	nebulin	3154					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V3154F(1)|p.V3397F(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAATGGGGACCCAGCCAATG	0.443																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(9460-9462)GTC>TTC		nebulin isoform 3							83.0	87.0	86.0					2																	152483674		1985	4150	6135	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152483674C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9460G>T	2.37:g.152483674C>A	ENSP00000172853:p.Val3154Phe						p.V3154F	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	66	9651	-			3154			Nebulin 86.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9460G>T		.	.	.	.	.	.	.	.	.	.	C	19.56	3.851224	0.71719	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10288	2.9;3.01;2.98;2.89	5.39	5.39	0.77823	.	0.056963	0.64402	D	0.000001	T	0.33990	0.0882	M	0.82630	2.6	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.06250	-1.0837	10	0.72032	D	0.01	.	13.6443	0.62272	0.2721:0.7279:0.0:0.0	.	3154	P20929	NEBU_HUMAN	F	3154;3397;3397;3154	ENSP00000386259:V3154F;ENSP00000380505:V3397F;ENSP00000416578:V3397F;ENSP00000172853:V3154F	ENSP00000172853:V3154F	V	-	1	0	NEB	152191920	0.441000	0.25626	1.000000	0.80357	0.984000	0.73092	0.390000	0.20768	2.687000	0.91594	0.655000	0.94253	GTC		PASS	0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		18	59	18	59	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165952021	165952021	+	Splice_Site	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:165952021C>G	ENST00000360093.3	-	25	4922	c.4431G>C	c.(4429-4431)aaG>aaC	p.K1477N	SCN3A_ENST00000409101.3_Splice_Site_p.K1428N|SCN3A_ENST00000540861.1_5'Flank|SCN3A_ENST00000283254.7_Splice_Site_p.K1477N|SCN3A_ENST00000465043.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1477					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.K1477N(1)|p.K1428N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAATACTTATCTTCTTTTTCT	0.338																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(4429-4431)AAG>AAC		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						94.0	93.0	93.0					2																	165952021		2203	4300	6503	SO:0001630	splice_region_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165952021C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4431+1G>C	2.37:g.165952021C>G						SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.K1428N|SCN3A_uc002ucz.2_Missense_Mutation_p.K1428N	p.K1477N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			25	4923	-			1477					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.4431G>C		.	.	.	.	.	.	.	.	.	.	C	21.3	4.135311	0.77662	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101	D;D;D	0.96940	-4.18;-4.18;-4.11	5.25	5.25	0.73442	.	0.287110	0.31102	N	0.008242	D	0.98826	0.9604	H	0.96398	3.815	0.80722	D	1	D;B;D	0.76494	0.999;0.225;0.957	D;B;P	0.80764	0.994;0.047;0.691	D	0.99246	1.0886	9	.	.	.	.	19.4069	0.94651	0.0:1.0:0.0:0.0	.	1428;1428;1477	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	N	1477;1477;1428	ENSP00000353206:K1477N;ENSP00000283254:K1477N;ENSP00000386726:K1428N	.	K	-	3	2	SCN3A	165660267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.609000	0.82925	2.894000	0.99253	0.591000	0.81541	AAG		PASS	0.338	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	Missense_Mutation	40	89	40	89	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167266365	167266365	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:167266365T>C	ENST00000409855.1	-	24	3918	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1264					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.Q1264Q(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)	TGGCTATTGCTTGGAAACATA	0.358																																						uc002udu.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(3790-3792)CAA>CAG		sodium channel, voltage-gated, type VII, alpha							48.0	47.0	47.0					2																	167266365		1861	4094	5955	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167266365T>C	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.3792A>G	2.37:g.167266365T>C							p.Q1264Q	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			24	3919	-			1264			Helical; Name=S1 of repeat IV; (By similarity).			Silent	SNP	ENST00000409855.1	37	c.3792A>G	CCDS46442.1																																																																																				PASS	0.358	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	21	4	21	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168097228	168097228	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:168097228C>G	ENST00000409728.1	+	8	1212	c.1123C>G	c.(1123-1125)Caa>Gaa	p.Q375E	XIRP2_ENST00000295237.9_Missense_Mutation_p.Q342E|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q120E|XIRP2_ENST00000420519.1_Missense_Mutation_p.Q375E|XIRP2_ENST00000409043.1_Missense_Mutation_p.Q342E|XIRP2_ENST00000409195.1_Missense_Mutation_p.Q342E|XIRP2_ENST00000409605.1_Missense_Mutation_p.Q120E|XIRP2_ENST00000409756.2_Missense_Mutation_p.Q342E	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	167					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q375E(1)|p.Q342E(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGTTTCATCAATATGTTCA	0.338																																						uc002udx.2																			2	Substitution - Missense(2)		lung(2)	skin(7)|ovary(6)|pancreas(1)	14						c.(1024-1026)CAA>GAA		xin actin-binding repeat containing 2 isoform 1							122.0	117.0	119.0					2																	168097228		1850	4077	5927	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168097228C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.1123C>G	2.37:g.168097228C>G	ENSP00000386619:p.Gln375Glu					XIRP2_uc010fpn.2_Missense_Mutation_p.Q375E|XIRP2_uc010fpo.2_Missense_Mutation_p.Q342E|XIRP2_uc010fpp.2_Missense_Mutation_p.Q342E|XIRP2_uc002udy.2_Missense_Mutation_p.Q167E|XIRP2_uc010fpq.2_Missense_Mutation_p.Q120E|XIRP2_uc010fpr.2_Missense_Mutation_p.Q120E	p.Q342E	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			6	1042	+			167					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.1024C>G	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128272	0.77549	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237;ENST00000409273;ENST00000409605	T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;4.2;-1.13;-1.13;4.2;4.22;-1.13	5.81	5.81	0.92471	.	0.305307	0.30999	N	0.008459	D	0.86822	0.6025	M	0.65975	2.015	0.41241	D	0.98664	P;D;D;D;P	0.69078	0.816;0.982;0.986;0.997;0.607	B;D;D;D;B	0.77557	0.194;0.968;0.977;0.99;0.146	D	0.85423	0.1144	10	0.39692	T	0.17	-16.321	17.5701	0.87933	0.0:1.0:0.0:0.0	.	167;342;375;167;120	A4UGR9;A4UGR9-4;A4UGR9-6;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.;.;.	E	342;375;342;342;375;342;120;120	ENSP00000386454:Q342E;ENSP00000386619:Q375E;ENSP00000386840:Q342E;ENSP00000386724:Q342E;ENSP00000415541:Q375E;ENSP00000295237:Q342E;ENSP00000387255:Q120E;ENSP00000386981:Q120E	ENSP00000295237:Q342E	Q	+	1	0	XIRP2	167805474	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	4.574000	0.60900	2.756000	0.94617	0.655000	0.94253	CAA		PASS	0.338	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		37	142	37	142	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168103057	168103057	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:168103057A>T	ENST00000409195.1	+	9	5244	c.5155A>T	c.(5155-5157)Aat>Tat	p.N1719Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.N1719Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1497Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1544					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.N1719Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACCATTCATAATTTATTGTC	0.348																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(5155-5157)AAT>TAT		xin actin-binding repeat containing 2 isoform 1							123.0	118.0	119.0					2																	168103057		1858	4093	5951	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103057A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5155A>T	2.37:g.168103057A>T	ENSP00000386840:p.Asn1719Tyr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.N1544Y|XIRP2_uc010fpq.2_Missense_Mutation_p.N1497Y|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.N1719Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	5173	+			1544					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5155A>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.986282	0.53934	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03413	3.94;3.94;3.94	5.59	5.59	0.84812	.	0.097704	0.64402	D	0.000001	T	0.17662	0.0424	M	0.73962	2.25	0.46774	D	0.999192	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.972;0.999;0.988	T	0.00225	-1.1901	10	0.48119	T	0.1	-19.5473	14.7546	0.69554	1.0:0.0:0.0:0.0	.	1544;1544;1497	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	1719;1719;1497	ENSP00000386840:N1719Y;ENSP00000295237:N1719Y;ENSP00000387255:N1497Y	ENSP00000295237:N1719Y	N	+	1	0	XIRP2	167811303	0.809000	0.29036	0.980000	0.43619	0.641000	0.38312	4.133000	0.57983	2.134000	0.65973	0.528000	0.53228	AAT		PASS	0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		39	101	39	101	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179515497	179515497	+	Silent	SNP	C	C	G	rs528832388	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:179515497C>G	ENST00000591111.1	-	164	35393	c.35169G>C	c.(35167-35169)gcG>gcC	p.A11723A	TTN_ENST00000342992.6_Silent_p.A10796A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A13230A|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11723	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.A10796A(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)			GAGGAGACTCCGCTCTTTCTG	0.418																																						uc010zfg.1																			1	Substitution - coding silent(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.(32386-32388)GCG>GCC		titin isoform N2-A							50.0	55.0	54.0					2																	179515497		1902	4101	6003	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179515497C>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.35169G>C	2.37:g.179515497C>G						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_RNA|TTN_uc002umx.1_5'UTR	p.A10796A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		163	32612	-			11723					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	Silent	SNP	ENST00000591111.1	37	c.32388G>C		.	.	.	.	.	.	.	.	.	.	C	4.319	0.058561	0.08339	.	.	ENSG00000155657	ENST00000426232	.	.	.	4.91	-0.39	0.12450	.	.	.	.	.	T	0.21590	0.0520	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24977	-1.0145	4	.	.	.	.	3.2249	0.06729	0.1053:0.448:0.1037:0.343	.	.	.	.	R	71	.	.	G	-	1	0	TTN	179223742	0.000000	0.05858	0.004000	0.12327	0.169000	0.22640	-0.977000	0.03782	-0.057000	0.13199	0.655000	0.94253	GGA		PASS	0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	24	10	24	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179616708	179616708	+	Intron	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:179616708T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000360870.5_Silent_p.S3473S|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			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)			CTTCAGAATCTGAAAAGGCGT	0.358																																						uc002unb.2																			0				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.(10417-10419)TCA>TCG		titin isoform novex-3							146.0	162.0	157.0					2																	179616708		2203	4298	6501	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179616708T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1142A>G	2.37:g.179616708T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S3473S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	10643	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.10419A>G																																																																																					PASS	0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		165	416	165	416	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183595823	183595823	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:183595823C>G	ENST00000264065.7	+	9	1209	c.794C>G	c.(793-795)tCa>tGa	p.S265*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.S265*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	265	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)	p.S265*(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTTTTGTTCAAAAGGAGGA	0.299																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(793-795)TCA>TGA		DnaJ (Hsp40) homolog, subfamily C, member 10							78.0	81.0	80.0					2																	183595823		2203	4299	6502	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183595823C>G		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.794C>G	2.37:g.183595823C>G	ENSP00000264065:p.Ser265*					DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.S265*|DNAJC10_uc010fro.1_RNA	p.S265*	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		9	1209	+			265					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.794C>G	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111149	0.77210	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	.	.	.	5.62	2.8	0.32819	.	0.625902	0.17098	N	0.187107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.0065	0.30327	0.0:0.6223:0.2444:0.1333	.	.	.	.	X	265	.	ENSP00000264065:S265X	S	+	2	0	DNAJC10	183304068	0.964000	0.33143	0.396000	0.26296	0.971000	0.66376	1.689000	0.37700	0.383000	0.24910	0.561000	0.74099	TCA		PASS	0.299	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		21	86	21	86	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196834815	196834815	+	Missense_Mutation	SNP	G	G	A	rs368478133		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:196834815G>A	ENST00000312428.6	-	17	2162	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	688	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R688W(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGTTCACACCGTAACTAATAA	0.303																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(2062-2064)CGG>TGG		dynein, axonemal, heavy chain 7		G	TRP/ARG	1,3603		0,1,1801	77.0	71.0	73.0		2062	5.5	1.0	2		73	0,8112		0,0,4056	no	missense	DNAH7	NM_018897.2	101	0,1,5857	AA,AG,GG		0.0,0.0277,0.0085	probably-damaging	688/4025	196834815	1,11715	1802	4056	5858	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196834815G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2062C>T	2.37:g.196834815G>A	ENSP00000311273:p.Arg688Trp						p.R688W	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			17	2163	-			688			Stem (By similarity).|Potential.		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2062C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885139	0.72410	2.77E-4	0.0	ENSG00000118997	ENST00000312428	T	0.24908	1.83	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.58736	0.2143	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.63747	-0.6567	10	0.62326	D	0.03	.	19.3732	0.94498	0.0:0.0:1.0:0.0	.	688	Q8WXX0	DYH7_HUMAN	W	688	ENSP00000311273:R688W	ENSP00000311273:R688W	R	-	1	2	DNAH7	196543060	1.000000	0.71417	0.978000	0.43139	0.543000	0.35085	5.563000	0.67352	2.759000	0.94783	0.591000	0.81541	CGG		PASS	0.303	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		41	124	41	124	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207176266	207176266	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:207176266G>C	ENST00000374423.3	+	5	7400	c.7014G>C	c.(7012-7014)gaG>gaC	p.E2338D		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2338							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E2338D(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAACGTGAGAGAATGATGA	0.423																																						uc002vbp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(7012-7014)GAG>GAC		zinc finger, DBF-type containing 2							47.0	48.0	48.0					2																	207176266		1923	4140	6063	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176266G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.7014G>C	2.37:g.207176266G>C	ENSP00000363545:p.Glu2338Asp						p.E2338D	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7264	+			2338					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.7014G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	0.246	-1.010197	0.02095	.	.	ENSG00000204186	ENST00000374423	T	0.39056	1.1	4.89	-5.75	0.02384	.	.	.	.	.	T	0.17023	0.0409	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36866	-0.9730	9	0.02654	T	1	.	2.8648	0.05597	0.1099:0.1579:0.4056:0.3266	.	2338	Q9HCK1	ZDBF2_HUMAN	D	2338	ENSP00000363545:E2338D	ENSP00000363545:E2338D	E	+	3	2	ZDBF2	206884511	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.718000	0.01875	-0.562000	0.06086	-2.232000	0.00291	GAG		PASS	0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		11	32	11	32	---	---	---	---
IGFBP2	3485	broad.mit.edu	37	2	217498633	217498633	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:217498633C>T	ENST00000233809.4	+	1	516	c.387C>T	c.(385-387)ggC>ggT	p.G129G		NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	129	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of activated T cell proliferation (GO:0042104)|regulation of cell growth (GO:0001558)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)	p.G129G(1)		endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		TGGGCGAGGGCACTTGTGAGA	0.687																																						uc010zjt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)GGC>GGT		insulin-like growth factor binding protein 2,							6.0	7.0	7.0					2																	217498633		1794	3817	5611	SO:0001819	synonymous_variant	3485				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding	g.chr2:217498633C>T		CCDS42815.1	2q35	2014-09-16	2002-08-29		ENSG00000115457	ENSG00000115457			5471	protein-coding gene	gene with protein product		146731	"""insulin-like growth factor binding protein 2 (36kD)"""	IBP2		1697583	Standard	NM_000597		Approved		uc021vwn.1	P18065	OTTHUMG00000155341	ENST00000233809.4:c.387C>T	2.37:g.217498633C>T						IGFBP2_uc010zju.1_Silent_p.G57G	p.G122G	NM_000597	NP_000588	P18065	IBP2_HUMAN		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)	3	516	+		Renal(323;0.0458)	129			IGFBP N-terminal.		Q14619|Q9UCL3	Silent	SNP	ENST00000233809.4	37	c.366C>T	CCDS42815.1																																																																																				PASS	0.687	IGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339540.1	NM_000597		9	19	9	19	---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	231934768	231934768	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:231934768C>A	ENST00000308696.6	+	6	702	c.540C>A	c.(538-540)agC>agA	p.S180R	PSMD1_ENST00000373635.4_Missense_Mutation_p.S180R|PSMD1_ENST00000409643.1_Missense_Mutation_p.S180R	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.S180R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TAGCTTATAGCCTTAAGCTCT	0.308																																						uc002vrn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(538-540)AGC>AGA		proteasome 26S non-ATPase subunit 1	Bortezomib(DB00188)						75.0	78.0	77.0					2																	231934768		2203	4298	6501	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231934768C>A	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.540C>A	2.37:g.231934768C>A	ENSP00000309474:p.Ser180Arg					PSMD1_uc002vrm.1_Missense_Mutation_p.S180R|PSMD1_uc010fxu.1_Missense_Mutation_p.S44R	p.S180R	NM_002807	NP_002798	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	6	671	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	180					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.540C>A	CCDS2482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.308259|4.308259	0.81247|0.81247	.|.	.|.	ENSG00000173692|ENSG00000173692	ENST00000444007|ENST00000308696;ENST00000373635;ENST00000440838;ENST00000409643	.|T;T;T	.|0.32272	.|1.46;1.46;1.46	5.84|5.84	4.96|4.96	0.65561|0.65561	.|Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.43634|0.43634	0.1256|0.1256	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|P;D	.|0.57257	.|0.847;0.979	.|B;P	.|0.51324	.|0.396;0.666	T|T	0.44967|0.44967	-0.9293|-0.9293	5|10	.|0.62326	.|D	.|0.03	-15.2609|-15.2609	15.2364|15.2364	0.73436|0.73436	0.0:0.9321:0.0:0.0679|0.0:0.9321:0.0:0.0679	.|.	.|180;180	.|Q99460;Q99460-2	.|PSMD1_HUMAN;.	T|R	80|180;180;186;180	.|ENSP00000309474:S180R;ENSP00000362738:S180R;ENSP00000386932:S180R	.|ENSP00000309474:S180R	P|S	+|+	1|3	0|2	PSMD1|PSMD1	231643012|231643012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	2.715000|2.715000	0.47210|0.47210	1.463000|1.463000	0.47967|0.47967	0.591000|0.591000	0.81541|0.81541	CCT|AGC		PASS	0.308	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			23	133	23	133	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242045998	242045998	+	Missense_Mutation	SNP	G	G	A	rs367872189		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:242045998G>A	ENST00000405260.1	-	18	4653	c.3955C>T	c.(3955-3957)Cgt>Tgt	p.R1319C	PASK_ENST00000234040.4_Missense_Mutation_p.R1319C|PASK_ENST00000475666.1_5'Flank|PASK_ENST00000358649.4_Missense_Mutation_p.R1326C|PASK_ENST00000544142.1_Missense_Mutation_p.R1133C|PASK_ENST00000539818.1_Missense_Mutation_p.R1103C	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1319					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.R1319C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTCAGCAGACGGGGATCCCCG	0.532																																						uc002wao.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(3955-3957)CGT>TGT		PAS domain containing serine/threonine kinase		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	129.0	147.0	141.0		3955	-0.6	0.0	2		141	1,8599	1.2+/-3.3	0,1,4299	no	missense	PASK	NM_015148.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1319/1324	242045998	2,13004	2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242045998G>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3955C>T	2.37:g.242045998G>A	ENSP00000384016:p.Arg1319Cys					PASK_uc010zol.1_Missense_Mutation_p.R1133C|PASK_uc010zom.1_Missense_Mutation_p.R1284C|PASK_uc010fzl.1_Missense_Mutation_p.R1326C|PASK_uc010zon.1_Missense_Mutation_p.R1100C	p.R1319C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	18	4047	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1319					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3955C>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882627	0.33255	2.27E-4	1.16E-4	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818	T;T;T;T;T	0.68624	-0.33;-0.34;-0.33;-0.29;-0.33	3.0	-0.641	0.11490	.	.	.	.	.	T	0.48132	0.1483	L	0.29908	0.895	0.09310	N	1	D;D;D;D	0.56521	0.958;0.976;0.976;0.958	B;B;B;B	0.41571	0.197;0.36;0.36;0.197	T	0.42699	-0.9436	9	0.62326	D	0.03	.	4.3044	0.10940	0.4174:0.4364:0.1462:0.0	.	1284;1133;1326;1319	B7Z7R6;F5GYW7;Q96RG2-2;Q96RG2	.;.;.;PASK_HUMAN	C	1319;1133;1319;1326;1103	ENSP00000234040:R1319C;ENSP00000441374:R1133C;ENSP00000384016:R1319C;ENSP00000351475:R1326C;ENSP00000443083:R1103C	ENSP00000234040:R1319C	R	-	1	0	PASK	241694671	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.021000	0.12504	-0.142000	0.11354	-0.312000	0.09012	CGT		PASS	0.532	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		65	208	65	208	---	---	---	---
BOK	666	broad.mit.edu	37	2	242511735	242511735	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr2:242511735C>T	ENST00000318407.3	+	5	839	c.537C>T	c.(535-537)gtC>gtT	p.V179V		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	179					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.V179V(1)		large_intestine(1)|lung(3)|ovary(1)	5		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;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		AGTGTGTGGTCAGCACAGACC	0.647																																						uc002wbq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(535-537)GTC>GTT		BCL2-related ovarian killer							68.0	53.0	58.0					2																	242511735		2203	4300	6503	SO:0001819	synonymous_variant	666				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		g.chr2:242511735C>T	AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.537C>T	2.37:g.242511735C>T						BOK_uc002wbr.2_5'Flank	p.V179V	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	5	783	+		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)	179						Silent	SNP	ENST00000318407.3	37	c.537C>T	CCDS2550.1																																																																																				PASS	0.647	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257268.2	NM_032515		4	22	4	22	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36756941	36756941	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:36756941G>A	ENST00000416516.2	-	5	2315	c.1825C>T	c.(1825-1827)Cag>Tag	p.Q609*	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Q609*(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGGGTGCTGAAGAACCTGA	0.542																																						uc003cgi.2																			1	Substitution - Nonsense(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1825-1827)CAG>TAG		doublecortin-like kinase 3							97.0	98.0	98.0					3																	36756941		2015	4169	6184	SO:0001587	stop_gained	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36756941G>A	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1825C>T	3.37:g.36756941G>A	ENSP00000394484:p.Gln609*						p.Q609*	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			5	2316	-			609			Protein kinase.			Nonsense_Mutation	SNP	ENST00000416516.2	37	c.1825C>T	CCDS43064.1	.	.	.	.	.	.	.	.	.	.	G	43	10.328304	0.99384	.	.	ENSG00000163673	ENST00000416516	.	.	.	5.75	3.85	0.44370	.	0.580562	0.13126	N	0.411841	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	13.5873	0.61940	0.0:0.119:0.7575:0.1235	.	.	.	.	X	609	.	ENSP00000394484:Q609X	Q	-	1	0	DCLK3	36731945	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	4.019000	0.57181	1.546000	0.49388	0.655000	0.94253	CAG		PASS	0.542	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		23	53	23	53	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230687	39230687	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:39230687C>T	ENST00000340369.3	-	2	478	c.250G>A	c.(250-252)Gag>Aag	p.E84K	XIRP1_ENST00000396251.1_Missense_Mutation_p.E84K|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	84					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.E84K(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTGGGTTCCTCAGAGCCCAGG	0.607																																						uc003cjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(250-252)GAG>AAG		xin actin-binding repeat containing 1							60.0	59.0	59.0					3																	39230687		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230687C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.250G>A	3.37:g.39230687C>T	ENSP00000343140:p.Glu84Lys					XIRP1_uc003cji.2_Missense_Mutation_p.E84K|XIRP1_uc003cjj.2_Intron	p.E84K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	471	-			84					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.250G>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679647	0.88542	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05786	3.39;3.76	4.54	4.54	0.55810	.	0.116123	0.56097	U	0.000031	T	0.18676	0.0448	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.66716	0.946;0.778	T	0.00373	-1.1781	10	0.72032	D	0.01	.	15.1889	0.73028	0.0:1.0:0.0:0.0	.	84;84	Q702N8;Q702N8-2	XIRP1_HUMAN;.	K	84	ENSP00000379550:E84K;ENSP00000343140:E84K	ENSP00000343140:E84K	E	-	1	0	XIRP1	39205691	1.000000	0.71417	0.948000	0.38648	0.994000	0.84299	6.981000	0.76166	2.250000	0.74265	0.655000	0.94253	GAG		PASS	0.607	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		26	41	26	41	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46487958	46487958	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:46487958G>T	ENST00000231751.4	-	11	1625	c.1330C>A	c.(1330-1332)Cct>Act	p.P444T	LTF_ENST00000426532.2_Missense_Mutation_p.P400T|LTF_ENST00000417439.1_Missense_Mutation_p.P442T	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	444	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.P444T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ACACAGTTAGGATCAGGGTCA	0.438																																						uc003cpq.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1330-1332)CCT>ACT		lactotransferrin precursor	Pefloxacin(DB00487)						120.0	104.0	110.0					3																	46487958		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46487958G>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1330C>A	3.37:g.46487958G>T	ENSP00000231751:p.Pro444Thr					LTF_uc003fzr.2_Missense_Mutation_p.P400T|LTF_uc010hjh.2_Missense_Mutation_p.P442T|LTF_uc003cpr.2_Missense_Mutation_p.P431T	p.P444T	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	11	1368	-			444			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1330C>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	G	0.596	-0.831000	0.02713	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	0.427	0.427	0.16489	.	2.265300	0.01194	N	0.007404	T	0.04815	0.0130	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.0;0.008;0.01	B;B;B	0.17098	0.008;0.005;0.017	T	0.36553	-0.9743	9	0.27785	T	0.31	.	.	.	.	.	442;431;444	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	T	444;400;442;431	ENSP00000231751:P444T;ENSP00000405719:P400T;ENSP00000405546:P442T;ENSP00000397427:P431T	ENSP00000231751:P444T	P	-	1	0	LTF	46462962	0.005000	0.15991	0.087000	0.20705	0.058000	0.15608	0.364000	0.20325	0.458000	0.26988	0.467000	0.42956	CCT		PASS	0.438	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		31	57	31	57	---	---	---	---
SLC25A20	788	broad.mit.edu	37	3	48900089	48900089	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:48900089G>C	ENST00000319017.4	-	5	619	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	SLC25A20_ENST00000544097.1_Missense_Mutation_p.Q91E|SLC25A20_ENST00000430379.1_Missense_Mutation_p.Q68E	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	141					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.Q141E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GAAGAAGCCTGAATCTGGGAG	0.473																																						uc003cva.3																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CAG>GAG		carnitine/acylcarnitine translocase	L-Carnitine(DB00583)						84.0	78.0	80.0					3																	48900089		2203	4300	6503	SO:0001583	missense	788				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	g.chr3:48900089G>C	Y10319	CCDS2779.1	3p21.31	2013-05-22			ENSG00000178537	ENSG00000178537		"""Solute carriers"""	1421	protein-coding gene	gene with protein product	"""carnitine-acylcarnitine carrier"", ""carnitine/acylcarnitine translocase"""	613698		CACT		9399886, 9533014	Standard	NM_000387		Approved	CAC	uc003cva.4	O43772	OTTHUMG00000133538	ENST00000319017.4:c.421C>G	3.37:g.48900089G>C	ENSP00000326305:p.Gln141Glu					SLC25A20_uc011bbw.1_Missense_Mutation_p.Q91E|SLC25A20_uc010hkj.2_Missense_Mutation_p.Q68E	p.Q141E	NM_000387	NP_000378	O43772	MCAT_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	5	596	-			141			Solcar 2.|Mitochondrial matrix (Potential).		B2R7F4|Q9UIQ2	Missense_Mutation	SNP	ENST00000319017.4	37	c.421C>G	CCDS2779.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259059	0.95368	.	.	ENSG00000178537	ENST00000430379;ENST00000319017;ENST00000544097	D;T;T	0.85258	-1.96;-1.35;-1.35	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.000000	0.64402	U	0.000003	D	0.90317	0.6971	M	0.73598	2.24	0.80722	D	1	P;P	0.50272	0.725;0.933	P;P	0.53102	0.679;0.718	D	0.91028	0.4862	10	0.72032	D	0.01	-7.4041	19.2457	0.93901	0.0:0.0:1.0:0.0	.	68;141	C9JPE1;O43772	.;MCAT_HUMAN	E	68;141;91	ENSP00000388986:Q68E;ENSP00000326305:Q141E;ENSP00000438731:Q91E	ENSP00000326305:Q141E	Q	-	1	0	SLC25A20	48875093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.470000	0.97683	2.660000	0.90430	0.650000	0.86243	CAG		PASS	0.473	SLC25A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257516.2	NM_000387		21	27	21	27	---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50256291	50256291	+	RNA	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:50256291G>C	ENST00000420502.1	+	0	1370									solute carrier family 38, member 3									p.R406P(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		AGCTGGCTGCGGCATGTGCTT	0.582																																						uc003cyn.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1216-1218)CGG>CCG		solute carrier family 38, member 3	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)						72.0	74.0	73.0					3																	50256291		2096	4222	6318			10991				cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity	g.chr3:50256291G>C	U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50256291G>C							p.R406P	NM_006841	NP_006832	Q99624	S38A3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	14	1358	+			406						Missense_Mutation	SNP	ENST00000420502.1	37	c.1217G>C																																																																																					PASS	0.582	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000345635.2	NM_006841		24	36	24	36	---	---	---	---
C3orf18	51161	broad.mit.edu	37	3	50602963	50602963	+	Silent	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:50602963C>A	ENST00000357203.3	-	3	707	c.168G>T	c.(166-168)acG>acT	p.T56T	C3orf18_ENST00000449241.1_Silent_p.T56T|C3orf18_ENST00000441239.1_Silent_p.T56T|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Silent_p.T56T	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	56						integral component of membrane (GO:0016021)		p.T56T(1)		lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		CCACGCCGGCCGTGCCACCAG	0.602																																						uc003das.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(166-168)ACG>ACT		hypothetical protein LOC51161							87.0	76.0	80.0					3																	50602963		2202	4300	6502	SO:0001819	synonymous_variant	51161					integral to membrane		g.chr3:50602963C>A	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.168G>T	3.37:g.50602963C>A						C3orf18_uc003dar.2_Silent_p.T56T|C3orf18_uc011bdr.1_Intron|C3orf18_uc010hlo.2_Silent_p.T56T|C3orf18_uc010hlp.2_Intron|C3orf18_uc003dat.2_Silent_p.T56T	p.T56T	NM_016210	NP_057294	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	2	619	-			56					C9JNP0	Silent	SNP	ENST00000357203.3	37	c.168G>T	CCDS2829.1																																																																																				PASS	0.602	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		19	35	19	35	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433565	73433565	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:73433565A>T	ENST00000263666.4	-	10	2266	c.2152T>A	c.(2152-2154)Tcc>Acc	p.S718T	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S435T|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S440T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S375T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S375T|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	718					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S718T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGCATCCAGGACTCGCGGTAC	0.602																																						uc003dpl.1																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(2152-2154)TCC>ACC		PDZ domain containing ring finger 3							47.0	41.0	43.0					3																	73433565		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433565A>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2152T>A	3.37:g.73433565A>T	ENSP00000263666:p.Ser718Thr					PDZRN3_uc011bgh.1_Missense_Mutation_p.S375T|PDZRN3_uc010hoe.1_Missense_Mutation_p.S416T|PDZRN3_uc011bgf.1_Missense_Mutation_p.S435T|PDZRN3_uc011bgg.1_Missense_Mutation_p.S438T	p.S718T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2248	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	718					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.2152T>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	A	11.27	1.588900	0.28357	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.10099	2.91;3.6;3.5;3.5;3.61;3.59	4.92	-1.31	0.09230	.	0.469245	0.24686	N	0.036436	T	0.08358	0.0208	M	0.72479	2.2	0.43385	D	0.995497	B;B;B;B	0.28208	0.051;0.203;0.061;0.031	B;B;B;B	0.29524	0.085;0.103;0.062;0.046	T	0.37502	-0.9703	10	0.06099	T	0.92	.	3.1898	0.06613	0.2907:0.1287:0.4543:0.1263	.	440;435;435;718	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	T	718;440;375;375;435;416	ENSP00000263666:S718T;ENSP00000442026:S440T;ENSP00000418168:S375T;ENSP00000418484:S375T;ENSP00000418624:S435T;ENSP00000419250:S416T	ENSP00000263666:S718T	S	-	1	0	PDZRN3	73516255	0.976000	0.34144	0.990000	0.47175	0.913000	0.54294	0.520000	0.22878	-0.547000	0.06207	0.482000	0.46254	TCC		PASS	0.602	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		13	25	13	25	---	---	---	---
EPHA3	2042	broad.mit.edu	37	3	89448476	89448476	+	Silent	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:89448476A>G	ENST00000336596.2	+	7	1665	c.1440A>G	c.(1438-1440)caA>caG	p.Q480Q	EPHA3_ENST00000494014.1_Silent_p.Q480Q|EPHA3_ENST00000452448.2_Silent_p.Q480Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	480	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Q480Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGCAGGAACAAGAAACAAGTT	0.368										TSP Lung(6;0.00050)																												uc003dqy.2																			2	Substitution - coding silent(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1438-1440)CAA>CAG		ephrin receptor EphA3 isoform a precursor							70.0	72.0	72.0					3																	89448476		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89448476A>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1440A>G	3.37:g.89448476A>G		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Silent_p.Q480Q|EPHA3_uc010hon.1_RNA	p.Q480Q	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	7	1665	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	480			Extracellular (Potential).|Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1440A>G	CCDS2922.1																																																																																				PASS	0.368	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		31	128	31	128	---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100105171	100105171	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:100105171C>T	ENST00000284320.5	-	3	964	c.516G>A	c.(514-516)gtG>gtA	p.V172V		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	172					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.V172V(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AGTCTTGTGCCACTTCTTTCC	0.333																																						uc003dtw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(514-516)GTG>GTA		translocase of outer mitochondrial membrane 70							130.0	124.0	126.0					3																	100105171		2202	4300	6502	SO:0001819	synonymous_variant	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100105171C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.516G>A	3.37:g.100105171C>T							p.V172V	NM_014820	NP_055635	O94826	TOM70_HUMAN			3	948	-			172			Cytoplasmic (Potential).|TPR 2.		D3DN48	Silent	SNP	ENST00000284320.5	37	c.516G>A	CCDS33807.1																																																																																				PASS	0.333	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			41	102	41	102	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108813790	108813790	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:108813790C>T	ENST00000483760.1	-	7	592	c.549G>A	c.(547-549)ttG>ttA	p.L183L	MORC1_ENST00000232603.5_Silent_p.L183L					MORC family CW-type zinc finger 1									p.L183L(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACTGCTGCATCAATTCTGCTT	0.328																																						uc003dxl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(547-549)TTG>TTA		MORC family CW-type zinc finger 1							45.0	47.0	46.0					3																	108813790		2203	4296	6499	SO:0001819	synonymous_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108813790C>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.549G>A	3.37:g.108813790C>T						MORC1_uc011bhn.1_Silent_p.L183L	p.L183L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			7	636	-			183						Silent	SNP	ENST00000483760.1	37	c.549G>A																																																																																					PASS	0.328	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			33	69	33	69	---	---	---	---
SLC9C1	285335	broad.mit.edu	37	3	111999533	111999533	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:111999533T>C	ENST00000305815.5	-	3	438	c.186A>G	c.(184-186)tcA>tcG	p.S62S	SLC9C1_ENST00000487372.1_Silent_p.S62S|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	62					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)	p.S62S(1)									TACACACCTGTGAAGATGTAA	0.328																																						uc003dyu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(184-186)TCA>TCG		sperm-specific sodium proton exchanger							44.0	44.0	44.0					3																	111999533		2203	4298	6501	SO:0001819	synonymous_variant	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999533T>C	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.186A>G	3.37:g.111999533T>C						SLC9A10_uc011bhu.1_5'UTR|SLC9A10_uc010hqc.2_Silent_p.S62S	p.S62S	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			3	408	-			62					Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	c.186A>G	CCDS33817.1																																																																																				PASS	0.328	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061		37	71	37	71	---	---	---	---
C3orf17	25871	broad.mit.edu	37	3	112729979	112729980	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:112729979_112729980TT>AA	ENST00000314400.5	-	6	1016_1017	c.825_826AA>TT	c.(823-828)ggAAtt>ggTTtt	p.I276F	C3orf17_ENST00000393857.2_Missense_Mutation_p.I140F|C3orf17_ENST00000383675.2_Missense_Mutation_p.I206F|C3orf17_ENST00000472762.1_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	276					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.I276F(2)|p.G275G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTTTTTGAAATTCCAAGCAAGG	0.332																																						uc003dzr.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(826-828)ATT>TTT|c.(823-825)GGA>GGT		hypothetical protein LOC25871																																				SO:0001583	missense	25871					integral to membrane		g.chr3:112729979T>A|g.chr3:112729980T>A	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.825_826delinsAA	3.37:g.112729979_112729980delinsAA	ENSP00000320251:p.Ile276Phe					GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_5'Flank|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Missense_Mutation_p.I179F|C3orf17_uc003dzs.2_Missense_Mutation_p.I140F|C3orf17_uc010hqg.2_Missense_Mutation_p.I101F|C3orf17_uc011bia.1_Missense_Mutation_p.I73F|C3orf17_uc003dzu.2_Missense_Mutation_p.I205F|C3orf17_uc011bib.1_Missense_Mutation_p.I165F|C3orf17_uc011bic.1_Missense_Mutation_p.I109F|C3orf17_uc011bid.1_RNA|GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_5'Flank|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Silent_p.G178G|C3orf17_uc003dzs.2_Silent_p.G139G|C3orf17_uc010hqg.2_Silent_p.G100G|C3orf17_uc011bia.1_Silent_p.G72G|C3orf17_uc003dzu.2_Silent_p.G204G|C3orf17_uc011bib.1_Silent_p.G164G|C3orf17_uc011bic.1_Silent_p.G108G|C3orf17_uc011bid.1_RNA	p.I276F|p.G275G	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			6	887|886	-			276|275					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Missense_Mutation|Silent	SNP	ENST00000314400.5	37	c.826A>T|c.825A>T	CCDS33824.1																																																																																				PASS	0.332	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		27|26	145|146	26	145	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126708343	126708343	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:126708343G>T	ENST00000393409.2	+	1	907	c.907G>T	c.(907-909)Gag>Tag	p.E303*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.E280*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	303	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.E280*(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CATTGGCTGCGAGCAGGCGGG	0.657																																						uc003ejg.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(838-840)GAG>TAG		plexin A1							135.0	142.0	140.0					3																	126708343		2202	4300	6502	SO:0001587	stop_gained	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708343G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.907G>T	3.37:g.126708343G>T	ENSP00000377061:p.Glu303*						p.E280*	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	842	+			303			Sema.|Extracellular (Potential).			Nonsense_Mutation	SNP	ENST00000393409.2	37	c.838G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417560	0.83449	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	4.15	2.24	0.28232	.	0.435447	0.21884	N	0.067684	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	7.6414	0.28296	0.0855:0.3211:0.5934:0.0	.	.	.	.	X	303;280	.	ENSP00000251772:E280X	E	+	1	0	PLXNA1	128191033	1.000000	0.71417	0.957000	0.39632	0.331000	0.28603	3.476000	0.53143	0.353000	0.24079	0.491000	0.48974	GAG		PASS	0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		36	183	36	183	---	---	---	---
RPN1	6184	broad.mit.edu	37	3	128350847	128350847	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:128350847G>A	ENST00000296255.3	-	4	835	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	RPN1_ENST00000497289.1_Missense_Mutation_p.R91C	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	263					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)	p.R263fs*3(1)|p.R263C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAATCATAGCGTGAGAAAGGC	0.438			T	EVI1	AML																																	uc003ekr.1				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.R263fs*3(1)	ovary(1)|lung(1)	ovary(2)|central_nervous_system(1)	3						c.(787-789)CGC>TGC		ribophorin I precursor							141.0	126.0	131.0					3																	128350847		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128350847G>A		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.787C>T	3.37:g.128350847G>A	ENSP00000296255:p.Arg263Cys					RPN1_uc011bkq.1_Missense_Mutation_p.R91C	p.R263C	NM_002950	NP_002941	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	863	-			263			Lumenal (Potential).		B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.787C>T	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101685	0.76983	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.93720	3.45	0.80722	D	1	D	0.56746	0.977	P	0.57679	0.825	D	0.84747	0.0754	9	0.72032	D	0.01	-13.983	11.4298	0.50034	0.0:0.0:0.6864:0.3136	.	263	P04843	RPN1_HUMAN	C	263;91;34;237	.	ENSP00000296255:R263C	R	-	1	0	RPN1	129833537	1.000000	0.71417	0.991000	0.47740	0.924000	0.55760	5.584000	0.67490	2.243000	0.73865	0.491000	0.48974	CGC		PASS	0.438	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		64	151	64	151	---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129290379	129290379	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:129290379G>A	ENST00000324093.4	-	17	3487	c.3309C>T	c.(3307-3309)gcC>gcT	p.A1103A	PLXND1_ENST00000393239.1_Silent_p.A1103A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1103	IPT/TIG 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1103A(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGTGGTGGACGGCCATGGACA	0.647																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(3307-3309)GCC>GCT		plexin D1 precursor							52.0	54.0	53.0					3																	129290379		2203	4300	6503	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290379G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3309C>T	3.37:g.129290379G>A							p.A1103A	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			17	3409	-			1103			Extracellular (Potential).|IPT/TIG 3.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3309C>T	CCDS33854.1																																																																																				PASS	0.647	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		35	68	35	68	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136016889	136016889	+	Missense_Mutation	SNP	C	C	G	rs2228310		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:136016889C>G	ENST00000251654.4	+	8	929	c.859C>G	c.(859-861)Ccc>Gcc	p.P287A	PCCB_ENST00000471595.1_Missense_Mutation_p.P287A|PCCB_ENST00000483687.1_Missense_Mutation_p.P268A|PCCB_ENST00000482086.1_Missense_Mutation_p.P171A|PCCB_ENST00000466072.1_Missense_Mutation_p.P287A|PCCB_ENST00000478469.1_Missense_Mutation_p.P287A|PCCB_ENST00000469217.1_Missense_Mutation_p.P307A|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000462637.1_Missense_Mutation_p.P264A|PCCB_ENST00000468777.1_Missense_Mutation_p.P318A|PCCB_ENST00000490504.1_Missense_Mutation_p.P230A	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	287	Carboxyltransferase.		P -> S (in dbSNP:rs2228310). {ECO:0000269|PubMed:8188292}.		biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.P287A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGACCCGGCTCCCGTCCGTGA	0.557																																						uc003eqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)CCC>GCC		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						156.0	163.0	161.0					3																	136016889		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136016889C>G		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.859C>G	3.37:g.136016889C>G	ENSP00000251654:p.Pro287Ala					PCCB_uc003eqz.1_Missense_Mutation_p.P287A|PCCB_uc011bmc.1_Missense_Mutation_p.P307A|PCCB_uc011bmd.1_Missense_Mutation_p.P204A	p.P287A	NM_000532	NP_000523	P05166	PCCB_HUMAN			8	910	+			287			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.859C>G	CCDS3089.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307333	0.40795	.	.	ENSG00000114054	ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469	D;D;D;D;D;D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1;-5.1	5.24	5.24	0.73138	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.98112	0.9377	M	0.80028	2.48	0.80722	D	1	P;B;P;B	0.40578	0.722;0.388;0.593;0.364	B;B;B;B	0.39379	0.298;0.189;0.147;0.147	D	0.99875	1.1102	10	0.72032	D	0.01	.	18.4669	0.90758	0.0:1.0:0.0:0.0	.	204;307;287;287	B7Z7U9;B7Z2Z4;E9PDR0;P05166	.;.;.;PCCB_HUMAN	A	287;230;268;318;264;287;171;287;307;287	ENSP00000251654:P287A;ENSP00000418307:P230A;ENSP00000420639:P268A;ENSP00000419129:P318A;ENSP00000420391:P264A;ENSP00000420158:P287A;ENSP00000417253:P171A;ENSP00000417549:P287A;ENSP00000419027:P307A;ENSP00000420759:P287A	ENSP00000251654:P287A	P	+	1	0	PCCB	137499579	1.000000	0.71417	0.836000	0.33094	0.046000	0.14306	7.081000	0.76844	2.445000	0.82738	0.655000	0.94253	CCC		PASS	0.557	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			72	327	72	327	---	---	---	---
SOX14	8403	broad.mit.edu	37	3	137484266	137484266	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:137484266C>G	ENST00000306087.1	+	1	688	c.640C>G	c.(640-642)Ccc>Gcc	p.P214A		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	214					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.P214A(1)		large_intestine(2)|lung(12)	14						CACCCTGCAGCCCCCCGTCGC	0.662																																						uc003erm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CCC>GCC		SRY-box 14							44.0	33.0	37.0					3																	137484266		2202	4293	6495	SO:0001583	missense	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137484266C>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.640C>G	3.37:g.137484266C>G	ENSP00000305343:p.Pro214Ala						p.P214A	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	688	+			214					B2RAC0|Q3KPH7	Missense_Mutation	SNP	ENST00000306087.1	37	c.640C>G	CCDS3094.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373175	0.24857	.	.	ENSG00000168875	ENST00000306087	D	0.96554	-4.05	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	N	0.19112	0.55	0.58432	D	0.999994	P	0.41597	0.756	B	0.42062	0.374	D	0.91191	0.4984	10	0.16420	T	0.52	.	17.8201	0.88648	0.0:1.0:0.0:0.0	.	214	O95416	SOX14_HUMAN	A	214	ENSP00000305343:P214A	ENSP00000305343:P214A	P	+	1	0	SOX14	138966956	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.716000	0.68437	2.449000	0.82847	0.511000	0.50034	CCC		PASS	0.662	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		11	39	11	39	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148552344	148552344	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:148552344C>T	ENST00000491148.1	+	4	541	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CPB1_ENST00000282957.4_Silent_p.F69F			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	69						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.F69F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAGTTGACTTCCGTGTTAAAG	0.328																																						uc003ewl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(205-207)TTC>TTT		pancreatic carboxypeptidase B1 preproprotein							108.0	102.0	104.0					3																	148552344		2203	4300	6503	SO:0001819	synonymous_variant	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148552344C>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.207C>T	3.37:g.148552344C>T							p.F69F	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		3	230	+			69					O60834|Q53XJ0|Q96BQ8	Silent	SNP	ENST00000491148.1	37	c.207C>T	CCDS33874.1																																																																																				PASS	0.328	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		53	213	53	213	---	---	---	---
MME	4311	broad.mit.edu	37	3	154860077	154860078	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:154860077_154860078CC>AA	ENST00000460393.1	+	12	1266_1267	c.1146_1147CC>AA	c.(1144-1149)agCCtc>agAAtc	p.382_383SL>RI	MME_ENST00000462745.1_Missense_Mutation_p.382_383SL>RI|MME_ENST00000492661.1_Missense_Mutation_p.382_383SL>RI|MME_ENST00000493237.1_Missense_Mutation_p.382_383SL>RI|MME_ENST00000360490.2_Missense_Mutation_p.382_383SL>RI	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	382					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.L383I(1)|p.S382R(1)|p.S382_L383>RI(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTGTAAGCAGCCTCAGCCGAAC	0.386																																						uc010hvr.1																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(1144-1146)AGC>AGA|c.(1147-1149)CTC>ATC		membrane metallo-endopeptidase	Candoxatril(DB00616)																																			SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154860077C>A|g.chr3:154860078C>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	Exception_encountered	3.37:g.154860077_154860078delinsAA	ENSP00000418525:p.S382_L383delinsRI					MME_uc003fab.1_Missense_Mutation_p.S382R|MME_uc003fac.1_Missense_Mutation_p.S382R|MME_uc003fad.1_Missense_Mutation_p.S382R|MME_uc003fae.1_Missense_Mutation_p.S382R|MME_uc003fab.1_Missense_Mutation_p.L383I|MME_uc003fac.1_Missense_Mutation_p.L383I|MME_uc003fad.1_Missense_Mutation_p.L383I|MME_uc003fae.1_Missense_Mutation_p.L383I	p.S382R|p.L383I	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		12	1357|1358	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	382|383			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1146C>A|c.1147C>A	CCDS3172.1																																																																																				PASS	0.386	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		41|40	234	40	234	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155199743	155199743	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:155199743A>C	ENST00000340059.7	-	23	4095	c.4096T>G	c.(4096-4098)Tca>Gca	p.S1366A	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1328A|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1328A|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1328A|PLCH1_ENST00000447496.2_3'UTR	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1366					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S1328A(1)|p.S1366A(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATTTTCTGATTCTCCATCA	0.448																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(4096-4098)TCA>GCA		phospholipase C eta 1 isoform a							43.0	46.0	45.0					3																	155199743		2202	4300	6502	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155199743A>C	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4096T>G	3.37:g.155199743A>C	ENSP00000345988:p.Ser1366Ala					PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.S1328A	p.S1366A	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	4373	-			1366					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.4096T>G	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	6.939	0.542968	0.13250	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	5.47	3.08	0.35506	.	2.254600	0.01608	N	0.022419	T	0.65386	0.2686	L	0.34521	1.04	0.09310	N	1	B;B	0.34015	0.021;0.435	B;B	0.27887	0.013;0.084	T	0.53746	-0.8395	10	0.49607	T	0.09	.	7.9531	0.30027	0.6752:0.2569:0.0679:0.0	.	1328;1366	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	A	1328;1366;1328;1328	ENSP00000417502:S1328A;ENSP00000345988:S1366A;ENSP00000335469:S1328A;ENSP00000412977:S1328A	ENSP00000335469:S1328A	S	-	1	0	PLCH1	156682437	0.016000	0.18221	0.001000	0.08648	0.362000	0.29581	1.182000	0.32029	0.367000	0.24454	0.477000	0.44152	TCA		PASS	0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		17	198	17	198	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155203198	155203198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:155203198G>T	ENST00000340059.7	-	22	2944	c.2945C>A	c.(2944-2946)tCg>tAg	p.S982*	PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.S962*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.S944*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.S944*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.S944*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.S982*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	982					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S944*(1)|p.S982*(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACAGGCAGCGACAAAGCTCC	0.468																																						uc011bok.1																			2	Substitution - Nonsense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2944-2946)TCG>TAG		phospholipase C eta 1 isoform a							116.0	115.0	115.0					3																	155203198		2203	4300	6503	SO:0001587	stop_gained	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203198G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2945C>A	3.37:g.155203198G>T	ENSP00000345988:p.Ser982*					PLCH1_uc011boj.1_Nonsense_Mutation_p.S982*|PLCH1_uc011bol.1_Nonsense_Mutation_p.S944*	p.S982*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	3222	-			982					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	ENST00000340059.7	37	c.2945C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	39	7.697576	0.98438	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.88	5.88	0.94601	.	1.037440	0.07631	N	0.928642	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9959	0.71431	0.0:0.0:0.8575:0.1425	.	.	.	.	X	962;944;982;982;944;944	.	ENSP00000335469:S944X	S	-	2	0	PLCH1	156685892	0.994000	0.37717	0.038000	0.18304	0.483000	0.33249	2.977000	0.49297	2.789000	0.95967	0.655000	0.94253	TCG		PASS	0.468	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		84	196	84	196	---	---	---	---
SLC33A1	9197	broad.mit.edu	37	3	155571554	155571554	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:155571554A>T	ENST00000392845.3	-	1	613	c.233T>A	c.(232-234)cTa>cAa	p.L78Q	SLC33A1_ENST00000460729.1_5'Flank|SLC33A1_ENST00000359479.3_Missense_Mutation_p.L78Q			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	78					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)	p.L78Q(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAGAAAGAGTAGTAGCAAAAT	0.512																																						uc003fan.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(232-234)CTA>CAA		acetyl-coenzyme A transporter							58.0	61.0	60.0					3																	155571554		2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571554A>T	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.233T>A	3.37:g.155571554A>T	ENSP00000376587:p.Leu78Gln					SLC33A1_uc003fao.1_Missense_Mutation_p.L78Q	p.L78Q	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	614	-			78			Helical; (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.233T>A	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525466	0.85600	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80304	-1.36;-1.36	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.92786	0.7706	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94809	0.7977	10	0.87932	D	0	-11.1089	16.0862	0.81056	1.0:0.0:0.0:0.0	.	78	O00400	ACATN_HUMAN	Q	78	ENSP00000376587:L78Q;ENSP00000352456:L78Q	ENSP00000352456:L78Q	L	-	2	0	SLC33A1	157054248	1.000000	0.71417	0.468000	0.27192	0.801000	0.45260	7.235000	0.78143	2.251000	0.74343	0.529000	0.55759	CTA		PASS	0.512	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		114	168	114	168	---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160003629	160003629	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:160003629C>A	ENST00000326448.7	-	13	1775	c.1343G>T	c.(1342-1344)gGa>gTa	p.G448V	IFT80_ENST00000483465.1_Missense_Mutation_p.G311V|IFT80_ENST00000496589.1_Missense_Mutation_p.G311V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.G619V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	448					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.G448V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAACGGCTTTCCGGTTGATGC	0.284																																						uc011boy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1342-1344)GGA>GTA		WD repeat domain 56							44.0	45.0	44.0					3																	160003629		2203	4293	6496	SO:0001583	missense	57560					cilium axoneme|microtubule basal body		g.chr3:160003629C>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1343G>T	3.37:g.160003629C>A	ENSP00000312778:p.Gly448Val					IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.G311V|IFT80_uc003fdd.1_Missense_Mutation_p.G131V|IFT80_uc003fde.1_Missense_Mutation_p.G311V	p.G448V	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		13	1776	-			448					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Missense_Mutation	SNP	ENST00000326448.7	37	c.1343G>T	CCDS3188.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215462	0.79352	.	.	ENSG00000068885	ENST00000326448;ENST00000483465;ENST00000496589	T;T;T	0.73789	1.95;-0.78;-0.78	5.15	5.15	0.70609	WD40 repeat-like-containing domain (1);	0.000000	0.64402	U	0.000019	D	0.86385	0.5920	M	0.75150	2.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87571	0.2478	10	0.62326	D	0.03	.	18.6276	0.91347	0.0:1.0:0.0:0.0	.	448	Q9P2H3	IFT80_HUMAN	V	448;311;311	ENSP00000312778:G448V;ENSP00000418196:G311V;ENSP00000420646:G311V	ENSP00000312778:G448V	G	-	2	0	IFT80	161486323	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.829000	0.75314	2.404000	0.81709	0.467000	0.42956	GGA		PASS	0.284	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		21	139	21	139	---	---	---	---
GPR160	26996	broad.mit.edu	37	3	169802048	169802048	+	Silent	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:169802048A>T	ENST00000355897.5	+	4	896	c.288A>T	c.(286-288)ctA>ctT	p.L96L		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L96L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ACATCTGCCTATTTACTCAAA	0.313																																						uc003fgi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(286-288)CTA>CTT		G protein-coupled receptor 160							66.0	69.0	68.0					3																	169802048		2203	4297	6500	SO:0001819	synonymous_variant	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802048A>T	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.288A>T	3.37:g.169802048A>T						GPR160_uc010hwq.2_Silent_p.L96L	p.L96L	NM_014373	NP_055188	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	878	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		96			Helical; Name=3; (Potential).		D3DNQ2	Silent	SNP	ENST00000355897.5	37	c.288A>T	CCDS3211.1																																																																																				PASS	0.313	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		52	226	52	226	---	---	---	---
NLGN1	22871	broad.mit.edu	37	3	173996720	173996720	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:173996720C>T	ENST00000457714.1	+	6	1358	c.929C>T	c.(928-930)gCa>gTa	p.A310V	NLGN1_ENST00000545397.1_Missense_Mutation_p.A310V|NLGN1_ENST00000361589.4_Missense_Mutation_p.A310V|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.A350V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	327					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.A310V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTCAACCTGCAAAATATGCT	0.393																																						uc003fio.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(928-930)GCA>GTA		neuroligin 1							91.0	90.0	90.0					3																	173996720		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173996720C>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.929C>T	3.37:g.173996720C>T	ENSP00000392500:p.Ala310Val					NLGN1_uc010hww.1_Missense_Mutation_p.A350V|NLGN1_uc003fip.1_Missense_Mutation_p.A310V	p.A310V	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1352	+	Ovarian(172;0.0025)		327			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.929C>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	6.376	0.437544	0.12104	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.59	5.59	0.84812	.	0.111715	0.64402	D	0.000012	T	0.53318	0.1789	N	0.16368	0.405	0.80722	D	1	B;B	0.20261	0.043;0.005	B;B	0.16289	0.015;0.006	T	0.44544	-0.9321	10	0.23302	T	0.38	.	19.9595	0.97236	0.0:1.0:0.0:0.0	.	350;310	D2X2H5;Q8N2Q7-2	.;.	V	310;310;350;310;350	ENSP00000392500:A310V;ENSP00000354541:A310V;ENSP00000410374:A350V;ENSP00000441108:A310V;ENSP00000385750:A350V	ENSP00000354541:A310V	A	+	2	0	NLGN1	175479414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.920000	0.63390	2.797000	0.96272	0.563000	0.77884	GCA		PASS	0.393	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		116	196	116	196	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184100882	184100882	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:184100882G>T	ENST00000204604.1	+	10	1390	c.1144G>T	c.(1144-1146)Gcc>Tcc	p.A382S	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.A12S|CHRD_ENST00000348986.3_Missense_Mutation_p.A382S|CHRD_ENST00000450923.1_Missense_Mutation_p.A382S	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	382	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.A95S(1)|p.A382S(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTGCAGATGGCCCTGGAGTG	0.677																																						uc003fov.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1144-1146)GCC>TCC		chordin precursor							17.0	17.0	17.0					3																	184100882		2201	4300	6501	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184100882G>T	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1144G>T	3.37:g.184100882G>T	ENSP00000204604:p.Ala382Ser					CHRD_uc003fow.2_Missense_Mutation_p.A12S|CHRD_uc003fox.2_Missense_Mutation_p.A382S|CHRD_uc003foy.2_Missense_Mutation_p.A12S|CHRD_uc010hyc.2_Missense_Mutation_p.A12S|CHRD_uc011brr.1_Missense_Mutation_p.A12S	p.A382S	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1390	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		382			CHRD 2.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1144G>T	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	3.999	-0.002949	0.07773	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.41758	1.02;1.02;1.02;0.99	4.46	2.52	0.30459	CHRD (3);	0.679053	0.14821	N	0.296462	T	0.19525	0.0469	N	0.08118	0	0.24826	N	0.992558	B;B;B;B	0.25048	0.002;0.042;0.001;0.117	B;B;B;B	0.26614	0.004;0.028;0.012;0.071	T	0.23297	-1.0192	10	0.14656	T	0.56	-2.1314	6.8535	0.24028	0.0905:0.0:0.6324:0.2771	.	12;382;382;382	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	S	382;382;382;12;95	ENSP00000204604:A382S;ENSP00000408972:A382S;ENSP00000334036:A382S;ENSP00000442948:A12S	ENSP00000204604:A382S	A	+	1	0	CHRD	185583576	0.350000	0.24878	0.994000	0.49952	0.913000	0.54294	0.857000	0.27831	1.009000	0.39289	0.462000	0.41574	GCC		PASS	0.677	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		4	18	4	18	---	---	---	---
LIPH	200879	broad.mit.edu	37	3	185232237	185232237	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:185232237C>G	ENST00000296252.4	-	8	1196	c.1055G>C	c.(1054-1056)aGa>aCa	p.R352T	LIPH_ENST00000424591.2_Missense_Mutation_p.R318T	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	352					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.R352T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGCTTTGTCTCTCAATTTGAT	0.363																																						uc003fpm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1054-1056)AGA>ACA		lipase, member H precursor							332.0	284.0	300.0					3																	185232237		2203	4299	6502	SO:0001583	missense	200879				lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	g.chr3:185232237C>G	AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.1055G>C	3.37:g.185232237C>G	ENSP00000296252:p.Arg352Thr					LIPH_uc010hyh.2_Missense_Mutation_p.R318T	p.R352T	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)		8	1165	-	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		352					A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	c.1055G>C	CCDS3272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.76|10.76	1.442504|1.442504	0.25987|0.25987	.|.	.|.	ENSG00000163898|ENSG00000163898	ENST00000435679|ENST00000296252;ENST00000424591	.|D;D	.|0.87650	.|-2.28;-2.07	4.87|4.87	-8.91|-8.91	0.00778|0.00778	.|.	.|0.816743	.|0.11838	.|N	.|0.524597	T|T	0.60534|0.60534	0.2276|0.2276	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.06405	.|0.001;0.002	T|T	0.55121|0.55121	-0.8190|-0.8190	5|10	.|0.22109	.|T	.|0.4	-2.0705|-2.0705	9.4157|9.4157	0.38519|0.38519	0.0:0.1552:0.3647:0.4801|0.0:0.1552:0.3647:0.4801	.|.	.|318;352	.|A2IBA6;Q8WWY8	.|.;LIPH_HUMAN	Q|T	30|352;318	.|ENSP00000296252:R352T;ENSP00000396384:R318T	.|ENSP00000296252:R352T	E|R	-|-	1|2	0|0	LIPH|LIPH	186714931|186714931	0.073000|0.073000	0.21202|0.21202	0.349000|0.349000	0.25694|0.25694	0.982000|0.982000	0.71751|0.71751	-0.811000|-0.811000	0.04500|0.04500	-1.724000|-1.724000	0.01373|0.01373	0.462000|0.462000	0.41574|0.41574	GAG|AGA		PASS	0.363	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1			83	379	83	379	---	---	---	---
PIGZ	80235	broad.mit.edu	37	3	196678730	196678730	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:196678730T>C	ENST00000412723.1	-	2	319	c.173A>G	c.(172-174)cAc>cGc	p.H58R	PIGZ_ENST00000443835.1_Missense_Mutation_p.H58R	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	58					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)	p.H58R(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		CTCATCTGGGTGCACATAGCC	0.572																																						uc003fxh.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(172-174)CAC>CGC		phosphatidylinositol glycan anchor biosynthesis,							94.0	82.0	86.0					3																	196678730		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678730T>C	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.173A>G	3.37:g.196678730T>C	ENSP00000413405:p.His58Arg						p.H58R	NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	320	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		58					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.173A>G	CCDS3324.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030217	0.75504	.	.	ENSG00000119227	ENST00000412723;ENST00000443835	T;T	0.64260	-0.09;-0.09	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000028	D	0.83635	0.5297	H	0.94183	3.505	0.34403	D	0.695484	D	0.89917	1.0	D	0.81914	0.995	D	0.91628	0.5316	10	0.87932	D	0	-19.9096	13.3201	0.60428	0.0:0.0:0.0:1.0	.	58	Q86VD9	PIGZ_HUMAN	R	58	ENSP00000413405:H58R;ENSP00000389327:H58R	ENSP00000413405:H58R	H	-	2	0	PIGZ	198163127	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.003000	0.63959	1.900000	0.55004	0.459000	0.35465	CAC		PASS	0.572	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		24	83	24	83	---	---	---	---
PIGG	54872	broad.mit.edu	37	4	517344	517344	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:517344G>A	ENST00000453061.2	+	9	1817	c.1711G>A	c.(1711-1713)Gtg>Atg	p.V571M	PIGG_ENST00000504346.1_Missense_Mutation_p.V482M|PIGG_ENST00000310340.5_Missense_Mutation_p.V563M|PIGG_ENST00000383028.4_Missense_Mutation_p.V438M|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	571					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.V563M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAGCAGCTTCGTGGAGGAGGA	0.557																																						uc003gak.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1711-1713)GTG>ATG		phosphatidylinositol glycan anchor biosynthesis,							148.0	146.0	147.0					4																	517344		2203	4300	6503	SO:0001583	missense	54872				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity	g.chr4:517344G>A		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1711G>A	4.37:g.517344G>A	ENSP00000415203:p.Val571Met					PIGG_uc003gaj.3_Missense_Mutation_p.V563M|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Missense_Mutation_p.V438M|PIGG_uc003gal.3_Missense_Mutation_p.V482M	p.V571M	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN			9	1847	+			571			Helical; (Potential).		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	c.1711G>A	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695055	0.68386	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.17370	2.63;2.61;2.29;2.28	5.67	4.66	0.58398	.	0.153249	0.56097	D	0.000038	T	0.26304	0.0642	M	0.62723	1.935	0.80722	D	1	D;D;D	0.57899	0.978;0.968;0.981	P;P;P	0.54965	0.682;0.706;0.765	T	0.06356	-1.0831	10	0.72032	D	0.01	.	3.7746	0.08654	0.7269:0.0:0.2731:0.0	.	438;571;563	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	M	563;571;482;438	ENSP00000311750:V563M;ENSP00000415203:V571M;ENSP00000424800:V482M;ENSP00000372494:V438M	ENSP00000311750:V563M	V	+	1	0	PIGG	507344	0.994000	0.37717	0.998000	0.56505	0.996000	0.88848	1.451000	0.35145	1.314000	0.45095	0.655000	0.94253	GTG		PASS	0.557	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1	NM_017733		82	207	82	207	---	---	---	---
GAK	2580	broad.mit.edu	37	4	860951	860951	+	Missense_Mutation	SNP	C	C	T	rs150706546		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:860951C>T	ENST00000314167.4	-	21	2775	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.E810K	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	889					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E889K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCGCCCACCTCGGAGTGCAGG	0.687																																						uc003gbm.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(1)|skin(1)	4						c.(2665-2667)GAG>AAG		cyclin G associated kinase		C	LYS/GLU	1,4405		0,1,2202	21.0	25.0	24.0		2665	4.7	0.4	4	dbSNP_134	24	0,8596		0,0,4298	no	missense	GAK	NM_005255.2	56	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	889/1312	860951	1,13001	2203	4298	6501	SO:0001583	missense	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860951C>T	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2665G>A	4.37:g.860951C>T	ENSP00000314499:p.Glu889Lys					GAK_uc003gbn.3_Missense_Mutation_p.E810K|GAK_uc010ibk.1_Missense_Mutation_p.E783K|GAK_uc010ibi.2_Missense_Mutation_p.E70K|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.E753K	p.E889K	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	2864	-			889					Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	c.2665G>A	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.54|18.54	3.645705|3.645705	0.67358|0.67358	2.27E-4|2.27E-4	0.0|0.0	ENSG00000178950|ENSG00000178950	ENST00000398567;ENST00000314167;ENST00000511163|ENST00000510799	T;T|.	0.78707|.	-0.7;-1.2|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.060291|.	0.64402|.	D|.	0.000004|.	T|T	0.60534|0.60534	0.2276|0.2276	L|L	0.46157|0.46157	1.445|1.445	0.39685|0.39685	D|D	0.970956|0.970956	P;P;P;P;P|.	0.50528|.	0.892;0.892;0.936;0.602;0.867|.	B;B;B;B;B|.	0.39660|.	0.173;0.173;0.306;0.121;0.121|.	T|T	0.60000|0.60000	-0.7348|-0.7348	10|5	0.39692|.	T|.	0.17|.	-26.527|-26.527	13.4035|13.4035	0.60898|0.60898	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	810;791;810;889;785|.	Q5U4P5;B4DS37;E9PGR2;O14976;Q59HA5|.	.;.;.;GAK_HUMAN;.|.	K|Q	165;889;810|19	ENSP00000314499:E889K;ENSP00000421361:E810K|.	ENSP00000314499:E889K|.	E|R	-|-	1|2	0|0	GAK|GAK	850951|850951	0.999000|0.999000	0.42202|0.42202	0.409000|0.409000	0.26459|0.26459	0.542000|0.542000	0.35054|0.35054	3.704000|3.704000	0.54815|0.54815	2.295000|2.295000	0.77249|0.77249	0.561000|0.561000	0.74099|0.74099	GAG|CGA		PASS	0.687	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255		19	32	19	32	---	---	---	---
ABLIM2	84448	broad.mit.edu	37	4	8089962	8089962	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:8089962T>A	ENST00000341937.5	-	4	452	c.388A>T	c.(388-390)Atg>Ttg	p.M130L	ABLIM2_ENST00000296372.8_Missense_Mutation_p.M130L|ABLIM2_ENST00000428004.2_Missense_Mutation_p.M130L|ABLIM2_ENST00000545242.1_Missense_Mutation_p.M130L|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361581.5_Missense_Mutation_p.M130L|ABLIM2_ENST00000546334.1_Missense_Mutation_p.M130L|ABLIM2_ENST00000447017.2_Missense_Mutation_p.M130L|ABLIM2_ENST00000407564.3_Missense_Mutation_p.M130L|ABLIM2_ENST00000361737.5_Missense_Mutation_p.M130L|ABLIM2_ENST00000505872.1_Missense_Mutation_p.M130L	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	130	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)	p.M130L(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTCTGGCACATGCATTCCTTC	0.632																																						uc003gko.2																			1	Substitution - Missense(1)		lung(1)	pancreas(3)	3						c.(388-390)ATG>TTG		actin binding LIM protein family, member 2							48.0	55.0	52.0					4																	8089962		2050	4173	6223	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8089962T>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.388A>T	4.37:g.8089962T>A	ENSP00000342813:p.Met130Leu					ABLIM2_uc003gkj.3_Missense_Mutation_p.M130L|ABLIM2_uc003gkm.3_Missense_Mutation_p.M130L|ABLIM2_uc003gkp.2_Missense_Mutation_p.M130L|ABLIM2_uc003gkq.2_Missense_Mutation_p.M130L|ABLIM2_uc003gkr.2_Missense_Mutation_p.M130L|ABLIM2_uc003gks.3_Missense_Mutation_p.M130L|ABLIM2_uc011bwl.1_Missense_Mutation_p.M135L	p.M130L	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			4	531	-			130			LIM zinc-binding 2.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.388A>T	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	T	2.028	-0.423088	0.04734	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.02	-5.73	0.02398	Zinc finger, LIM-type (4);	0.590473	0.18126	N	0.150882	T	0.41236	0.1150	N	0.00119	-2.075	0.80722	D	1	B;B;B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.0;0.0;0.002;0.0	B;B;B;B;B;B;B;B	0.11329	0.002;0.002;0.002;0.001;0.001;0.001;0.006;0.002	T	0.51442	-0.8705	10	0.02654	T	1	.	8.3625	0.32367	0.0:0.4681:0.1269:0.4051	.	135;130;130;130;130;130;130;130	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	L	130	ENSP00000354887:M130L;ENSP00000296372:M130L;ENSP00000441255:M130L;ENSP00000444365:M130L;ENSP00000393511:M130L;ENSP00000342813:M130L;ENSP00000355003:M130L;ENSP00000384658:M130L;ENSP00000421283:M130L;ENSP00000389410:M130L	ENSP00000296372:M130L	M	-	1	0	ABLIM2	8140862	0.000000	0.05858	0.828000	0.32881	0.948000	0.59901	-2.558000	0.00923	-1.354000	0.02188	0.454000	0.30748	ATG		PASS	0.632	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		12	34	12	34	---	---	---	---
RAB28	9364	broad.mit.edu	37	4	13370215	13370215	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:13370215G>A	ENST00000330852.5	-	7	847	c.633C>T	c.(631-633)aaC>aaT	p.N211N	RAB28_ENST00000288723.4_3'UTR|RAB28_ENST00000338176.4_3'UTR	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	211					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N211N(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTCTAGGAGGGTTAACAGTCC	0.443																																						uc003gmu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(631-633)AAC>AAT		RAB28, member RAS oncogene family isoform 1							170.0	151.0	158.0					4																	13370215		2203	4300	6503	SO:0001819	synonymous_variant	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13370215G>A	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.633C>T	4.37:g.13370215G>A						RAB28_uc003gmt.2_3'UTR|RAB28_uc011bwz.1_3'UTR|RAB28_uc003gmv.2_RNA	p.N211N	NM_001017979	NP_001017979	P51157	RAB28_HUMAN			7	848	-			211					G8JLC5|Q8IYR8|Q8NI05	Silent	SNP	ENST00000330852.5	37	c.633C>T	CCDS33961.1																																																																																				PASS	0.443	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979		39	98	39	98	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13602889	13602889	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:13602889C>T	ENST00000040738.5	-	10	5770	c.5635G>A	c.(5635-5637)Gaa>Aaa	p.E1879K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1879						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E1879K(1)									TGCCCAATTTCATTTCCTCTT	0.473																																						uc003gmz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(5635-5637)GAA>AAA		biorientation of chromosomes in cell division							177.0	178.0	178.0					4																	13602889		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13602889C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5635G>A	4.37:g.13602889C>T	ENSP00000040738:p.Glu1879Lys					BOD1L_uc010idr.1_Missense_Mutation_p.E1216K	p.E1879K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5752	-			1879					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5635G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638569	0.87760	.	.	ENSG00000038219	ENST00000040738	T	0.18657	2.2	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000031	T	0.36663	0.0975	L	0.32530	0.975	0.38972	D	0.95877	D	0.89917	1.0	D	0.80764	0.994	T	0.19353	-1.0308	10	0.44086	T	0.13	-8.1536	17.9523	0.89057	0.0:1.0:0.0:0.0	.	1879	Q8NFC6	BOD1L_HUMAN	K	1879	ENSP00000040738:E1879K	ENSP00000040738:E1879K	E	-	1	0	BOD1L	13211987	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.069000	0.64370	2.239000	0.73571	0.561000	0.74099	GAA		PASS	0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		55	159	55	159	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17824747	17824747	+	Splice_Site	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:17824747G>C	ENST00000251496.2	+	8	1435		c.e8+1			NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G						mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.?(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AAGGAGGAAGGTATGTCTAAA	0.289																																						uc003gpp.2																			1	Unknown(1)		lung(1)	large_intestine(1)	1						c.e8+1		chromosome condensation protein G							61.0	64.0	63.0					4																	17824747		2198	4291	6489	SO:0001630	splice_region_variant	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17824747G>C	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1259+1G>C	4.37:g.17824747G>C						NCAPG_uc011bxj.1_Splice_Site	p.R420_splice	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	8	1435	+								Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Splice_Site	SNP	ENST00000251496.2	37	c.1259_splice	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701827	0.68501	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1868	0.93647	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPG	17433845	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	8.652000	0.91083	2.838000	0.97847	0.591000	0.81541	.		PASS	0.289	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	Intron	40	89	40	89	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39083642	39083642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:39083642C>T	ENST00000504108.1	+	4	1184	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	KLHL5_ENST00000381930.3_Nonsense_Mutation_p.Q301*|KLHL5_ENST00000359687.2_Nonsense_Mutation_p.Q301*|KLHL5_ENST00000261425.3_Nonsense_Mutation_p.Q255*|KLHL5_ENST00000261426.5_Nonsense_Mutation_p.Q240*|KLHL5_ENST00000508137.2_Nonsense_Mutation_p.Q114*	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	301						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q301*(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTGCCTTCTTCAGCTTTCACA	0.383																																						uc003gts.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(901-903)CAG>TAG		kelch-like 5 isoform 1							128.0	120.0	122.0					4																	39083642		2203	4300	6503	SO:0001587	stop_gained	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39083642C>T	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.901C>T	4.37:g.39083642C>T	ENSP00000423897:p.Gln301*					KLHL5_uc003gtp.2_Nonsense_Mutation_p.Q255*|KLHL5_uc003gtq.2_Nonsense_Mutation_p.Q114*|KLHL5_uc003gtr.1_Nonsense_Mutation_p.Q301*|KLHL5_uc003gtt.2_Nonsense_Mutation_p.Q240*	p.Q301*	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN			4	976	+			301					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Nonsense_Mutation	SNP	ENST00000504108.1	37	c.901C>T	CCDS33974.1	.	.	.	.	.	.	.	.	.	.	C	38	7.175967	0.98114	.	.	ENSG00000109790	ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426	.	.	.	5.45	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9494	0.79820	0.1361:0.8639:0.0:0.0	.	.	.	.	X	335;255;114;301;301;301;240	.	ENSP00000261425:Q255X	Q	+	1	0	KLHL5	38760037	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	1.428000	0.47296	0.460000	0.39030	CAG		PASS	0.383	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			87	190	87	190	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85594031	85594031	+	Missense_Mutation	SNP	C	C	T	rs199672909		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:85594031C>T	ENST00000295888.4	-	68	10978	c.10571G>A	c.(10570-10572)cGa>cAa	p.R3524Q	WDFY3_ENST00000322366.6_Missense_Mutation_p.R3507Q	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3524	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.R3524Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAACAATTTCGAGGCCCATC	0.458																																						uc003hpd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(10570-10572)CGA>CAA		WD repeat and FYVE domain containing 3 isoform		C	GLN/ARG	0,4406		0,0,2203	137.0	131.0	133.0		10571	3.6	1.0	4		133	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDFY3	NM_014991.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3524/3527	85594031	1,13005	2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85594031C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.10571G>A	4.37:g.85594031C>T	ENSP00000295888:p.Arg3524Gln					WDFY3_uc003hpc.2_Missense_Mutation_p.R279Q	p.R3524Q	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	68	10979	-		Hepatocellular(203;0.114)	3524					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.10571G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124146	0.56613	0.0	1.16E-4	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.67865	-0.29;-0.29	5.76	3.64	0.41730	.	0.060203	0.64402	D	0.000005	T	0.52468	0.1736	N	0.22421	0.69	0.41127	D	0.985856	B	0.10296	0.003	B	0.04013	0.001	T	0.54207	-0.8328	10	0.66056	D	0.02	.	13.157	0.59522	0.0:0.8554:0.0:0.1446	.	3524	Q8IZQ1	WDFY3_HUMAN	Q	3507;3524	ENSP00000318466:R3507Q;ENSP00000295888:R3524Q	ENSP00000295888:R3524Q	R	-	2	0	WDFY3	85813055	1.000000	0.71417	0.954000	0.39281	0.995000	0.86356	3.497000	0.53295	1.366000	0.46076	0.655000	0.94253	CGA		PASS	0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		76	236	76	236	---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88535180	88535180	+	Missense_Mutation	SNP	G	G	C	rs79488787		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:88535180G>C	ENST00000282478.7	+	4	1399	c.1366G>C	c.(1366-1368)Gat>Cat	p.D456H	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D456H			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	456	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D456H(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TTATGATTTTGATGATAAGTC	0.403																																						uc003hqu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1366-1368)GAT>CAT		dentin sialophosphoprotein preproprotein							144.0	137.0	139.0					4																	88535180		2008	4176	6184	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535180G>C	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1366G>C	4.37:g.88535180G>C	ENSP00000282478:p.Asp456His						p.D456H	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1486	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	456			Asp/Ser-rich.		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1366G>C	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628426	0.28978	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.97831	-4.56;-4.56	4.74	3.9	0.45041	.	0.498030	0.14916	N	0.290942	D	0.98157	0.9391	M	0.66939	2.045	0.33290	D	0.563352	D	0.89917	1.0	D	0.76575	0.988	D	0.98374	1.0555	10	0.72032	D	0.01	-9.8642	10.6447	0.45613	0.096:0.0:0.904:0.0	.	456	Q9NZW4	DSPP_HUMAN	H	456	ENSP00000382213:D456H;ENSP00000282478:D456H	ENSP00000282478:D456H	D	+	1	0	DSPP	88754204	1.000000	0.71417	0.450000	0.26969	0.536000	0.34869	4.221000	0.58574	0.989000	0.38761	0.446000	0.29264	GAT		PASS	0.403	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		26	104	26	104	---	---	---	---
DSPP	1834	broad.mit.edu	37	4	88535201	88535201	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:88535201G>A	ENST00000282478.7	+	4	1420	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D463N			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	463	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.D463N(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		CATGCAAGGAGATGATCCCAA	0.388																																						uc003hqu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1387-1389)GAT>AAT		dentin sialophosphoprotein preproprotein							142.0	135.0	137.0					4																	88535201		2019	4184	6203	SO:0001583	missense	1834				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	g.chr4:88535201G>A	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1387G>A	4.37:g.88535201G>A	ENSP00000282478:p.Asp463Asn						p.D463N	NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000508)	5	1507	+		Hepatocellular(203;0.114)|all_hematologic(202;0.236)	463			Asp/Ser-rich.		A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	c.1387G>A	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553724	0.45487	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.97791	-4.54;-4.54	4.59	4.59	0.56863	.	0.000000	0.33834	N	0.004506	D	0.98485	0.9495	M	0.79123	2.44	0.34056	D	0.65676	D	0.89917	1.0	D	0.91635	0.999	D	0.99973	1.2084	10	0.59425	D	0.04	-11.7052	14.882	0.70540	0.0:0.0:1.0:0.0	.	463	Q9NZW4	DSPP_HUMAN	N	463	ENSP00000382213:D463N;ENSP00000282478:D463N	ENSP00000282478:D463N	D	+	1	0	DSPP	88754225	1.000000	0.71417	0.996000	0.52242	0.387000	0.30353	5.234000	0.65343	2.083000	0.62718	0.446000	0.29264	GAT		PASS	0.388	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208		26	111	26	111	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89400515	89400515	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:89400515G>A	ENST00000264350.3	+	13	1747	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	HERC5_ENST00000508159.1_Missense_Mutation_p.A170T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	532					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.A532T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AGAGTATTGGGCAACTCTGCA	0.378																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.(1594-1596)GCA>ACA		hect domain and RLD 5							89.0	91.0	90.0					4																	89400515		2203	4300	6503	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89400515G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1594G>A	4.37:g.89400515G>A	ENSP00000264350:p.Ala532Thr					HERC5_uc011cdm.1_Missense_Mutation_p.A170T	p.A532T	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	13	1747	+		Hepatocellular(203;0.114)	532					B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.1594G>A	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830091	0.32329	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.37411	1.2;1.25	4.82	2.14	0.27477	.	1.051720	0.07477	N	0.903128	T	0.33294	0.0858	L	0.54323	1.7	0.20764	N	0.999857	B	0.13145	0.007	B	0.12156	0.007	T	0.30031	-0.9992	10	0.40728	T	0.16	.	6.5446	0.22398	0.301:0.0:0.699:0.0	.	532	Q9UII4	HERC5_HUMAN	T	532;170	ENSP00000264350:A532T;ENSP00000424129:A170T	ENSP00000264350:A532T	A	+	1	0	HERC5	89619538	0.923000	0.31300	0.805000	0.32314	0.610000	0.37248	0.763000	0.26517	0.245000	0.21373	0.585000	0.79938	GCA		PASS	0.378	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		41	121	41	121	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104640740	104640740	+	Silent	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:104640740C>A	ENST00000304883.2	-	1	233	c.93G>T	c.(91-93)ggG>ggT	p.G31G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	31					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.G31G(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)		CCGTGGCCGCCCCGGCAGCTA	0.682																																						uc003hxe.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(1)|skin(1)	7						c.(91-93)GGG>GGT		tachykinin receptor 3							33.0	40.0	38.0					4																	104640740		2202	4297	6499	SO:0001819	synonymous_variant	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104640740C>A	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.93G>T	4.37:g.104640740C>A							p.G31G	NM_001059	NP_001050	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	1	236	-		Hepatocellular(203;0.217)	31			Extracellular (Potential).		Q0P510	Silent	SNP	ENST00000304883.2	37	c.93G>T	CCDS3664.1																																																																																				PASS	0.682	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		6	57	6	57	---	---	---	---
USP53	54532	broad.mit.edu	37	4	120192475	120192475	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:120192475A>T	ENST00000274030.6	+	16	2639	c.1460A>T	c.(1459-1461)cAt>cTt	p.H487L	USP53_ENST00000450251.1_Missense_Mutation_p.H487L	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53									p.H486L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GACCTTTCACATTTCCAATCT	0.363																																						uc003ics.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(1459-1461)CAT>CTT		ubiquitin specific protease 53							59.0	57.0	57.0					4																	120192475		1836	4086	5922	SO:0001583	missense	54532				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr4:120192475A>T	BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1460A>T	4.37:g.120192475A>T	ENSP00000274030:p.His487Leu					USP53_uc003icr.3_Missense_Mutation_p.H487L|USP53_uc003icu.3_Missense_Mutation_p.H110L|USP53_uc003ict.2_Missense_Mutation_p.H110L	p.H487L	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN			15	2526	+			487						Missense_Mutation	SNP	ENST00000274030.6	37	c.1460A>T	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190865	0.38707	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.21734	1.99;1.99	5.84	-0.703	0.11261	.	0.869188	0.10498	N	0.667563	T	0.13670	0.0331	L	0.47716	1.5	0.09310	N	1	B	0.29716	0.255	B	0.24394	0.053	T	0.26326	-1.0106	10	0.35671	T	0.21	-2.7974	2.244	0.04026	0.5179:0.1234:0.2447:0.114	.	487	Q70EK8	UBP53_HUMAN	L	487	ENSP00000274030:H487L;ENSP00000409906:H487L	ENSP00000274030:H487L	H	+	2	0	USP53	120411923	0.028000	0.19301	0.083000	0.20561	0.851000	0.48451	0.433000	0.21477	0.103000	0.17682	0.528000	0.53228	CAT		PASS	0.363	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		49	120	49	120	---	---	---	---
MMAA	166785	broad.mit.edu	37	4	146576485	146576485	+	Missense_Mutation	SNP	C	C	T	rs374622922		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:146576485C>T	ENST00000281317.5	+	7	2366	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	MMAA_ENST00000541599.1_Missense_Mutation_p.R105W	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	386					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.R386W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCACAGTCCGGGAACAGAT	0.483																																						uc003ikh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1156-1158)CGG>TGG		methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	83.0	81.0	82.0		1156	4.8	0.0	4		82	0,8600		0,0,4300	no	missense	MMAA	NM_172250.2	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	386/419	146576485	2,13004	2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146576485C>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.1156C>T	4.37:g.146576485C>T	ENSP00000281317:p.Arg386Trp					MMAA_uc010iow.2_RNA	p.R386W	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			7	1241	+	all_hematologic(180;0.151)		386					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.1156C>T	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650478	0.47362	4.54E-4	0.0	ENSG00000151611	ENST00000281317;ENST00000537246;ENST00000541599	D;D	0.91996	-2.95;-2.95	5.67	4.75	0.60458	.	0.377447	0.30437	N	0.009636	D	0.90721	0.7088	L	0.59436	1.845	0.30030	N	0.813562	D	0.69078	0.997	P	0.46452	0.517	D	0.89320	0.3639	10	0.87932	D	0	-5.7552	11.2775	0.49176	0.3992:0.6008:0.0:0.0	.	386	Q8IVH4	MMAA_HUMAN	W	386;386;105	ENSP00000281317:R386W;ENSP00000442284:R105W	ENSP00000281317:R386W	R	+	1	2	MMAA	146795935	0.995000	0.38212	0.021000	0.16686	0.124000	0.20399	3.209000	0.51122	2.692000	0.91855	0.655000	0.94253	CGG		PASS	0.483	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			57	152	57	152	---	---	---	---
NPY1R	4886	broad.mit.edu	37	4	164247497	164247497	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:164247497C>T	ENST00000296533.2	-	2	741	c.210G>A	c.(208-210)gaG>gaA	p.E70E	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	70					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.E70E(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATTTCTCATCTCCTTTTGTT	0.408																																						uc003iqm.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|pancreas(1)	2						c.(208-210)GAG>GAA		neuropeptide Y receptor Y1							125.0	109.0	114.0					4																	164247497		2203	4300	6503	SO:0001819	synonymous_variant	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247497C>T		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.210G>A	4.37:g.164247497C>T						NPY1R_uc011cjj.1_Intron	p.E70E	NM_000909	NP_000900	P25929	NPY1R_HUMAN			2	476	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	70			Cytoplasmic (Potential).		B2R6H5	Silent	SNP	ENST00000296533.2	37	c.210G>A	CCDS34089.1																																																																																				PASS	0.408	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			43	123	43	123	---	---	---	---
NEK1	4750	broad.mit.edu	37	4	170322914	170322914	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:170322914C>T	ENST00000439128.2	-	31	4028	c.3388G>A	c.(3388-3390)Gag>Aag	p.E1130K	NEK1_ENST00000511633.1_Missense_Mutation_p.E1114K|NEK1_ENST00000507142.1_Missense_Mutation_p.E1158K|NEK1_ENST00000512193.1_Missense_Mutation_p.E1061K|NEK1_ENST00000510533.1_Missense_Mutation_p.E1086K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1130					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E1158K(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAGACTGACTCTTCTTCTTCA	0.458																																						uc003isb.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|large_intestine(1)	6						c.(3388-3390)GAG>AAG		NIMA-related kinase 1							282.0	271.0	275.0					4																	170322914		2064	4213	6277	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170322914C>T	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3388G>A	4.37:g.170322914C>T	ENSP00000408020:p.Glu1130Lys					NEK1_uc003isc.1_Missense_Mutation_p.E1086K|NEK1_uc003isd.1_Missense_Mutation_p.E1158K|NEK1_uc003ise.1_Missense_Mutation_p.E1114K|NEK1_uc003isf.1_Missense_Mutation_p.E1061K	p.E1130K	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	31	3880	-		Prostate(90;0.00601)|Renal(120;0.0183)	1130					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.3388G>A	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053095	0.75960	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.70254	0.3203	M	0.62723	1.935	0.46609	D	0.999129	P;D;D;D;P	0.67145	0.939;0.996;0.965;0.996;0.941	P;D;P;D;P	0.65140	0.676;0.932;0.758;0.932;0.577	T	0.70285	-0.4914	10	0.54805	T	0.06	.	19.6956	0.96023	0.0:1.0:0.0:0.0	.	1061;1114;1158;1086;1130	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	K	1130;1114;1086;1158;1061	ENSP00000408020:E1130K;ENSP00000423332:E1114K;ENSP00000427653:E1086K;ENSP00000424757:E1158K;ENSP00000424938:E1061K	ENSP00000408020:E1130K	E	-	1	0	NEK1	170559489	0.850000	0.29656	0.849000	0.33467	0.008000	0.06430	3.179000	0.50887	2.652000	0.90054	0.637000	0.83480	GAG		PASS	0.458	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3			115	329	115	329	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177190073	177190073	+	Missense_Mutation	SNP	G	G	C	rs143631688		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:177190073G>C	ENST00000296525.3	-	1	300	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	63					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.Q63E(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CCTTGTCCTTGGGTTACTCCA	0.393																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(187-189)CAA>GAA		ankyrin repeat and SOCS box-containing protein		G	GLU/GLN	0,4406		0,0,2203	102.0	89.0	93.0		187	5.8	1.0	4	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB5	NM_080874.3	29	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	63/330	177190073	1,13005	2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190073G>C	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.187C>G	4.37:g.177190073G>C	ENSP00000296525:p.Gln63Glu						p.Q63E	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	203	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	63					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.187C>G	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671879	0.67928	0.0	1.16E-4	ENSG00000164122	ENST00000296525	T	0.39787	1.06	5.83	5.83	0.93111	Ankyrin repeat-containing domain (1);	0.175249	0.51477	D	0.000095	T	0.32556	0.0833	N	0.08118	0	0.80722	D	1	B	0.28713	0.22	B	0.37422	0.249	T	0.14392	-1.0474	10	0.23891	T	0.37	-16.5736	20.127	0.97984	0.0:0.0:1.0:0.0	.	63	Q8WWX0	ASB5_HUMAN	E	63	ENSP00000296525:Q63E	ENSP00000296525:Q63E	Q	-	1	0	ASB5	177427067	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.666000	0.54540	2.775000	0.95449	0.585000	0.79938	CAA		PASS	0.393	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			31	90	31	90	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	187004694	187004694	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr4:187004694G>A	ENST00000296795.3	+	4	1958	c.1854G>A	c.(1852-1854)caG>caA	p.Q618Q	TLR3_ENST00000504367.1_Silent_p.Q341Q	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	618					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Q618Q(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGAACCTTCAGAAGAATCTCA	0.378																																						uc003iyq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(1852-1854)CAG>CAA		toll-like receptor 3 precursor							72.0	75.0	74.0					4																	187004694		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004694G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1854G>A	4.37:g.187004694G>A						TLR3_uc011ckz.1_Silent_p.Q341Q|TLR3_uc003iyr.2_Silent_p.Q341Q	p.Q618Q	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1955	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	618			LRR 22.|Lumenal (Potential).		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1854G>A	CCDS3846.1																																																																																				PASS	0.378	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			68	186	68	186	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34823168	34823168	+	Silent	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:34823168A>G	ENST00000265109.3	+	15	1508	c.1221A>G	c.(1219-1221)ccA>ccG	p.P407P	RAI14_ENST00000506376.1_Silent_p.P399P|RAI14_ENST00000503673.1_Silent_p.P407P|RAI14_ENST00000397449.1_Silent_p.P400P|RAI14_ENST00000512629.1_Silent_p.P378P|RAI14_ENST00000515799.1_Silent_p.P410P|RAI14_ENST00000428746.2_Silent_p.P407P	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	407						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.P407P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCTCTCCCCCAGACTCCAAAT	0.463																																						uc003jir.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1219-1221)CCA>CCG		retinoic acid induced 14 isoform a							84.0	87.0	86.0					5																	34823168		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823168A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1221A>G	5.37:g.34823168A>G						RAI14_uc010iur.2_Silent_p.P378P|RAI14_uc011coj.1_Silent_p.P407P|RAI14_uc003jis.2_Silent_p.P410P|RAI14_uc003jit.2_Silent_p.P407P|RAI14_uc011cok.1_Silent_p.P399P	p.P407P	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			15	1417	+	all_lung(31;0.000191)		407					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.1221A>G	CCDS34142.1																																																																																				PASS	0.463	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		56	170	56	170	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43704376	43704376	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:43704376C>G	ENST00000264663.5	+	22	3352	c.3131C>G	c.(3130-3132)tCt>tGt	p.S1044C	NNT_ENST00000344920.4_Missense_Mutation_p.S1044C|NNT_ENST00000512996.2_Missense_Mutation_p.S913C	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	1044					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)	p.S1044C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATGAAGAGGTCTTTGGGTGTT	0.443																																						uc003joe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3130-3132)TCT>TGT		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						212.0	184.0	193.0					5																	43704376		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43704376C>G	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.3131C>G	5.37:g.43704376C>G	ENSP00000264663:p.Ser1044Cys					NNT_uc003jof.2_Missense_Mutation_p.S1044C	p.S1044C	NM_012343	NP_036475	Q13423	NNTM_HUMAN			22	3386	+	Lung NSC(6;2.58e-06)		1044			Mitochondrial matrix.|NADP.		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.3131C>G	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457443	0.84317	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.94457	-3.43;-3.43;-3.43	5.18	5.18	0.71444	.	0.054548	0.85682	D	0.000000	D	0.98102	0.9374	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.99402	1.0928	10	0.87932	D	0	-9.968	18.7239	0.91705	0.0:1.0:0.0:0.0	.	1044	Q13423	NNTM_HUMAN	C	559;1044;1044;913	ENSP00000264663:S1044C;ENSP00000343873:S1044C;ENSP00000426343:S913C	ENSP00000264663:S1044C	S	+	2	0	NNT	43740133	0.987000	0.35691	0.985000	0.45067	0.994000	0.84299	7.487000	0.81328	2.426000	0.82243	0.650000	0.86243	TCT		PASS	0.443	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		98	347	98	347	---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76728962	76728962	+	Nonstop_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:76728962A>G	ENST00000296679.4	-	13	1753	c.1378T>C	c.(1378-1380)Tag>Cag	p.*460Q	WDR41_ENST00000507029.1_Nonstop_Mutation_p.*405Q|WDR41_ENST00000414719.2_Nonstop_Mutation_p.*206Q|WDR41_ENST00000512033.1_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	0						lysosomal membrane (GO:0005765)		p.*460Q(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCCTTAAACTAGACAGCAAGG	0.318																																						uc003kff.1																			2	Nonstop extension(2)		lung(1)|kidney(1)		0						c.(1378-1380)TAG>CAG		WD repeat domain 41							108.0	112.0	111.0					5																	76728962		2202	4300	6502	SO:0001578	stop_lost	55255							g.chr5:76728962A>G	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1378T>C	5.37:g.76728962A>G	ENSP00000296679:p.*460Gluext*12					WDR41_uc011csy.1_Nonstop_Mutation_p.*402Q|WDR41_uc011csz.1_Nonstop_Mutation_p.*405Q	p.*460Q	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	13	1665	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	460					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Nonstop_Mutation	SNP	ENST00000296679.4	37	c.1378T>C	CCDS4038.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917529	0.52546	.	.	ENSG00000164253	ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029	.	.	.	5.45	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8479	0.41039	0.9219:0.0:0.0781:0.0	.	.	.	.	Q	460;206;395;405	.	.	X	-	1	0	WDR41	76764718	0.653000	0.27358	0.002000	0.10522	0.904000	0.53231	2.659000	0.46741	0.906000	0.36621	0.397000	0.26171	TAG		PASS	0.318	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		72	98	72	98	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82816285	82816285	+	Silent	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:82816285C>A	ENST00000265077.3	+	7	2725	c.2160C>A	c.(2158-2160)gtC>gtA	p.V720V	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.V720V|VCAN_ENST00000512590.2_Silent_p.V672V|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	720	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|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 organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.V720V(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AAGAAGAAGTCTTCTCTGGGA	0.363																																						uc003kii.3																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(2158-2160)GTC>GTA		versican isoform 1 precursor							70.0	72.0	71.0					5																	82816285		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816285C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2160C>A	5.37:g.82816285C>A						VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.V720V|VCAN_uc003kik.3_Intron	p.V720V	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	2516	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	720			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.2160C>A	CCDS4060.1																																																																																				PASS	0.363	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		47	76	47	76	---	---	---	---
TMEM161B	153396	broad.mit.edu	37	5	87494810	87494810	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:87494810C>T	ENST00000296595.6	-	10	1196	c.1072G>A	c.(1072-1074)Gtt>Att	p.V358I	TMEM161B_ENST00000512429.1_Missense_Mutation_p.V347I|TMEM161B_ENST00000506536.1_Missense_Mutation_p.V176I|TMEM161B_ENST00000511218.1_Missense_Mutation_p.V149I|TMEM161B_ENST00000514135.1_Missense_Mutation_p.V358I|TMEM161B_ENST00000515293.1_5'Flank	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	358						integral component of membrane (GO:0016021)		p.V358I(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TGTAGCTCAACCGTGCTTATT	0.368																																						uc003kjc.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1072-1074)GTT>ATT		transmembrane protein 161B							50.0	51.0	51.0					5																	87494810		2203	4299	6502	SO:0001583	missense	153396					integral to membrane		g.chr5:87494810C>T	BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1072G>A	5.37:g.87494810C>T	ENSP00000296595:p.Val358Ile					TMEM161B_uc011cty.1_Missense_Mutation_p.V347I|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.V149I	p.V358I	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)	10	1197	-		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)	358					Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	ENST00000296595.6	37	c.1072G>A	CCDS4065.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.697777	0.30142	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000506536;ENST00000511218;ENST00000512429	.	.	.	5.65	3.55	0.40652	.	0.167634	0.52532	N	0.000071	T	0.41719	0.1171	L	0.31476	0.935	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.21348	-1.0248	9	0.19147	T	0.46	-17.4719	10.6698	0.45751	0.0:0.7735:0.0:0.2265	.	149;358	B7Z6A5;Q8NDZ6	.;T161B_HUMAN	I	358;358;176;149;347	.	ENSP00000296595:V358I	V	-	1	0	TMEM161B	87530566	0.954000	0.32549	0.993000	0.49108	0.972000	0.66771	2.178000	0.42519	1.387000	0.46486	0.467000	0.42956	GTT		PASS	0.368	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254094.1	NM_153354		30	70	30	70	---	---	---	---
LNPEP	4012	broad.mit.edu	37	5	96332123	96332123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:96332123G>A	ENST00000231368.5	+	7	2129	c.1437G>A	c.(1435-1437)tgG>tgA	p.W479*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.W465*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	479					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-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.W479*(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CAATGAAGTGGTGGAATGACC	0.378																																						uc003kmv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1435-1437)TGG>TGA		leucyl/cystinyl aminopeptidase isoform 1							115.0	114.0	114.0					5																	96332123		2203	4300	6503	SO:0001587	stop_gained	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96332123G>A	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1437G>A	5.37:g.96332123G>A	ENSP00000231368:p.Trp479*					LNPEP_uc003kmw.1_Nonsense_Mutation_p.W465*	p.W479*	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	7	1951	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	479			Extracellular (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	ENST00000231368.5	37	c.1437G>A	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	G	43	9.849342	0.99279	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7851	0.91951	0.0:0.0:1.0:0.0	.	.	.	.	X	479;465	.	ENSP00000231368:W479X	W	+	3	0	LNPEP	96357879	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.729000	0.98795	2.598000	0.87819	0.563000	0.77884	TGG		PASS	0.378	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		30	64	30	64	---	---	---	---
VDAC1	7416	broad.mit.edu	37	5	133316532	133316532	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:133316532C>T	ENST00000265333.3	-	6	683	c.439G>A	c.(439-441)Gag>Aag	p.E147K	VDAC1_ENST00000395044.3_Missense_Mutation_p.E147K|VDAC1_ENST00000395047.2_Missense_Mutation_p.E147K	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	147					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)	p.E147K(1)		endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AGCCAGCCCTCGTAACCTAGC	0.532																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAG>AAG		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						60.0	63.0	62.0					5																	133316532		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133316532C>T		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.439G>A	5.37:g.133316532C>T	ENSP00000265333:p.Glu147Lys					VDAC1_uc003kyq.1_Missense_Mutation_p.E147K|VDAC1_uc003kyr.1_Missense_Mutation_p.E147K	p.E147K	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		6	538	-			147					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.439G>A	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901233	0.72754	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.27	5.27	0.74061	.	0.097526	0.64402	D	0.000001	T	0.32406	0.0828	N	0.21282	0.65	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.07539	-1.0767	10	0.19590	T	0.45	.	19.2582	0.93955	0.0:1.0:0.0:0.0	.	147	P21796	VDAC1_HUMAN	K	147	ENSP00000265333:E147K;ENSP00000378484:E147K;ENSP00000378487:E147K;ENSP00000390129:E147K	ENSP00000265333:E147K	E	-	1	0	VDAC1	133344431	1.000000	0.71417	0.971000	0.41717	0.900000	0.52787	7.776000	0.85560	2.622000	0.88805	0.655000	0.94253	GAG		PASS	0.532	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1			37	87	37	87	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481893	140481893	+	Missense_Mutation	SNP	G	G	A	rs138158842		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:140481893G>A	ENST00000231130.2	+	1	1660	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A554T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711																																						uc003lio.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1660-1662)GCC>ACC		protocadherin beta 3 precursor		G	THR/ALA	0,4300		0,0,2150	17.0	19.0	18.0		1660	3.3	1.0	5	dbSNP_134	18	1,8433		0,1,4216	no	missense	PCDHB3	NM_018937.2	58	0,1,6366	AA,AG,GG		0.0119,0.0,0.0079	benign	554/797	140481893	1,12733	2150	4217	6367	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481893G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1660G>A	5.37:g.140481893G>A	ENSP00000231130:p.Ala554Thr					uc003lin.2_5'Flank	p.A554T	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1660	+			554			Extracellular (Potential).|Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1660G>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799517	0.31869	0.0	1.19E-4	ENSG00000113205	ENST00000231130	T	0.03181	4.02	4.24	3.35	0.38373	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02688	0.0081	N	0.13003	0.285	0.23076	N	0.998338	B	0.22080	0.064	B	0.15870	0.014	T	0.38628	-0.9652	9	0.42905	T	0.14	.	8.5429	0.33404	0.0896:0.1558:0.7546:0.0	.	554	Q9Y5E6	PCDB3_HUMAN	T	554	ENSP00000231130:A554T	ENSP00000231130:A554T	A	+	1	0	PCDHB3	140462077	0.000000	0.05858	0.992000	0.48379	0.775000	0.43874	0.196000	0.17176	2.078000	0.62432	0.556000	0.70494	GCC		PASS	0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		33	26	33	26	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140811628	140811628	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:140811628G>A	ENST00000252085.3	+	1	1444	c.1302G>A	c.(1300-1302)acG>acA	p.T434T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	434	Cadherin 4. {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.T434T(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTATCCACGGAAACTCATA	0.532																																						uc003lkt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1300-1302)ACG>ACA		protocadherin gamma subfamily A, 12 isoform 1							57.0	62.0	60.0					5																	140811628		2203	4300	6503	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811628G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1302G>A	5.37:g.140811628G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.T434T	p.T434T	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1471	+			434			Cadherin 4.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.1302G>A	CCDS4260.1																																																																																				PASS	0.532	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		39	31	39	31	---	---	---	---
RELL2	285613	broad.mit.edu	37	5	141019182	141019182	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:141019182C>T	ENST00000297164.3	+	4	1669	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	RELL2_ENST00000521367.1_Missense_Mutation_p.R91W|FCHSD1_ENST00000435817.2_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R91W|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_Missense_Mutation_p.R157W	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	157					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R157R(1)|p.R157W(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCGCCCCCGGACAGGGGA	0.652																																						uc003lli.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		upper_aerodigestive_tract(1)|lung(1)		0						c.(469-471)CGG>TGG		RELT-like 2							31.0	36.0	35.0					5																	141019182		2202	4300	6502	SO:0001583	missense	285613					integral to membrane|plasma membrane		g.chr5:141019182C>T	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.469C>T	5.37:g.141019182C>T	ENSP00000297164:p.Arg157Trp					HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.2_Missense_Mutation_p.R157W|RELL2_uc003llg.2_Missense_Mutation_p.R91W|RELL2_uc010jgf.2_Missense_Mutation_p.R91W|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	p.R157W	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	1317	+			157					D3DQE2|Q6P4E7|Q6UXY2	Missense_Mutation	SNP	ENST00000297164.3	37	c.469C>T	CCDS4265.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303297	0.60195	.	.	ENSG00000164620	ENST00000444782;ENST00000521367;ENST00000297164;ENST00000518856	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.38	2.04	0.26737	.	0.082765	0.46442	D	0.000293	T	0.64746	0.2626	M	0.67397	2.05	0.28711	N	0.903522	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.948	T	0.65001	-0.6274	10	0.87932	D	0	-12.5587	14.8668	0.70422	0.3933:0.6067:0.0:0.0	.	91;157	E5RHA7;Q8NC24	.;RELL2_HUMAN	W	157;91;157;91	ENSP00000409443:R157W;ENSP00000430948:R91W;ENSP00000297164:R157W;ENSP00000427992:R91W	ENSP00000297164:R157W	R	+	1	2	RELL2	140999366	0.877000	0.30153	0.565000	0.28409	0.998000	0.95712	2.013000	0.40942	0.551000	0.29008	0.655000	0.94253	CGG		PASS	0.652	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		33	37	33	37	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150945543	150945543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:150945543C>A	ENST00000261800.5	-	1	2962	c.2950G>T	c.(2950-2952)Gag>Tag	p.E984*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	984	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E984*(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)			AGCTCTCTCTCCAGAATGAGC	0.612																																						uc003lue.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(2950-2952)GAG>TAG		FAT tumor suppressor 2 precursor							37.0	38.0	37.0					5																	150945543		2203	4300	6503	SO:0001587	stop_gained	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945543C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.2950G>T	5.37:g.150945543C>A	ENSP00000261800:p.Glu984*					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Nonsense_Mutation_p.E984*	p.E984*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	2963	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	984			Extracellular (Potential).|Cadherin 8.		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	c.2950G>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	41	9.134284	0.99077	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	12.5041	0.55972	0.0:0.9236:0.0:0.0764	.	.	.	.	X	984	.	ENSP00000261800:E984X	E	-	1	0	FAT2	150925736	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.833000	0.62766	2.523000	0.85059	0.561000	0.74099	GAG		PASS	0.612	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		37	27	37	27	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171488194	171488194	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr5:171488194T>A	ENST00000176763.5	-	14	2504	c.2161A>T	c.(2161-2163)Atc>Ttc	p.I721F		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	721					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.I721F(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGTCACAGATCTCCCGCCTG	0.612																																						uc003mbo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2161-2163)ATC>TTC		serine/threonine kinase 10							170.0	146.0	154.0					5																	171488194		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488194T>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2161A>T	5.37:g.171488194T>A	ENSP00000176763:p.Ile721Phe						p.I721F	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2461	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	721			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2161A>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215320	0.79352	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.35789	1.29	4.99	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.79258	2.445	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.57963	-0.7720	10	0.72032	D	0.01	.	8.7989	0.34896	0.0:0.0906:0.0:0.9094	.	721	O94804	STK10_HUMAN	F	721	ENSP00000176763:I721F	ENSP00000176763:I721F	I	-	1	0	STK10	171420799	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.541000	0.82084	0.747000	0.32809	0.374000	0.22700	ATC		PASS	0.612	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		154	130	154	130	---	---	---	---
EXOC2	55770	broad.mit.edu	37	6	562784	562784	+	Splice_Site	SNP	T	T	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:562784T>G	ENST00000230449.4	-	17	1986	c.1851A>C	c.(1849-1851)ctA>ctC	p.L617L	EXOC2_ENST00000448181.3_Splice_Site_p.L212L	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	617					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L617L(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTAAACTTACTAGAGAAGTCA	0.294																																						uc003mtd.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|pancreas(1)	7						c.(1849-1851)CTA>CTC		Sec5 protein							51.0	54.0	53.0					6																	562784		2197	4290	6487	SO:0001630	splice_region_variant	55770				exocytosis|protein transport			g.chr6:562784T>G	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1851+1A>C	6.37:g.562784T>G						EXOC2_uc003mte.2_Silent_p.L617L|EXOC2_uc011dho.1_Silent_p.L212L	p.L617L	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	17	1985	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	617					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	ENST00000230449.4	37	c.1851A>C	CCDS34327.1																																																																																				PASS	0.294	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303	Silent	21	42	21	42	---	---	---	---
NUP153	9972	broad.mit.edu	37	6	17648069	17648069	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:17648069G>T	ENST00000262077.2	-	13	1600	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y	NUP153_ENST00000537253.1_Missense_Mutation_p.S565Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	534					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.S534Y(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGCCTCAGTAGATTTTACGAT	0.333																																						uc003ncd.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1600-1602)TCT>TAT		nucleoporin 153kDa							141.0	143.0	142.0					6																	17648069		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17648069G>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1601C>A	6.37:g.17648069G>T	ENSP00000262077:p.Ser534Tyr					NUP153_uc011dje.1_Missense_Mutation_p.S565Y|NUP153_uc010jpl.1_Missense_Mutation_p.S534Y	p.S534Y	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		13	1801	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	534					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1601C>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.480223	0.84747	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.42131	0.98;0.98	5.91	5.91	0.95273	Nucleoporin, Nup153-like (1);	0.000000	0.48767	D	0.000162	T	0.60038	0.2238	M	0.71581	2.175	0.47584	D	0.999469	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.78314	0.991;0.988;0.961	T	0.61589	-0.7032	10	0.87932	D	0	-21.2025	18.4761	0.90793	0.0:0.0:1.0:0.0	.	565;556;534	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	Y	534;556;565	ENSP00000262077:S534Y;ENSP00000444029:S565Y	ENSP00000262077:S534Y	S	-	2	0	NUP153	17756048	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.332000	0.72934	2.805000	0.96524	0.551000	0.68910	TCT		PASS	0.333	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			62	155	62	155	---	---	---	---
OR2W1	26692	broad.mit.edu	37	6	29012825	29012825	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:29012825G>C	ENST00000377175.1	-	1	192	c.128C>G	c.(127-129)aCa>aGa	p.T43R		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T43R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AATGATGGCTGTGTTACCCAC	0.408																																						uc003nlw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(127-129)ACA>AGA		olfactory receptor, family 2, subfamily W,							116.0	125.0	122.0					6																	29012825		1508	2709	4217	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012825G>C	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.128C>G	6.37:g.29012825G>C	ENSP00000366380:p.Thr43Arg						p.T43R	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN			1	128	-			43			Helical; Name=1; (Potential).		B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.128C>G	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	G	6.293	0.422173	0.11928	.	.	ENSG00000204704	ENST00000377175	T	0.00441	7.41	4.78	2.95	0.34219	GPCR, rhodopsin-like superfamily (1);	0.121832	0.37437	N	0.002097	T	0.00210	0.0006	M	0.84773	2.715	0.21105	N	0.999782	B	0.32526	0.374	B	0.32393	0.145	T	0.44817	-0.9303	10	0.48119	T	0.1	.	4.2377	0.10634	0.2483:0.1884:0.5632:0.0	.	43	Q9Y3N9	OR2W1_HUMAN	R	43	ENSP00000366380:T43R	ENSP00000366380:T43R	T	-	2	0	OR2W1	29120804	0.022000	0.18835	1.000000	0.80357	0.194000	0.23727	2.791000	0.47829	2.171000	0.68590	0.585000	0.79938	ACA		PASS	0.408	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			52	168	52	168	---	---	---	---
CMTR1	23070	broad.mit.edu	37	6	37442397	37442397	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:37442397A>G	ENST00000373451.4	+	18	2083	c.1919A>G	c.(1918-1920)gAa>gGa	p.E640G		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	640					7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.E640G(1)									CTATCTGTGGAAATTGTGCAT	0.567																																						uc003ons.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(1918-1920)GAA>GGA		FtsJ methyltransferase domain containing 2							105.0	101.0	102.0					6																	37442397		2203	4300	6503	SO:0001583	missense	23070				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	g.chr6:37442397A>G	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1919A>G	6.37:g.37442397A>G	ENSP00000362550:p.Glu640Gly						p.E640G	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN			18	2172	+			640					A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	c.1919A>G	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	A	32	5.175871	0.94807	.	.	ENSG00000137200	ENST00000373451;ENST00000373420	D	0.96365	-3.99	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.97929	0.9319	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.98897	1.0775	10	0.87932	D	0	-28.0952	15.2399	0.73461	1.0:0.0:0.0:0.0	.	640	Q8N1G2	MTR1_HUMAN	G	640;47	ENSP00000362550:E640G	ENSP00000362519:E47G	E	+	2	0	FTSJD2	37550375	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	2.279000	0.76181	0.533000	0.62120	GAA		PASS	0.567	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050		43	94	43	94	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43188302	43188302	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:43188302C>A	ENST00000252050.4	+	32	6472	c.6388C>A	c.(6388-6390)Cgt>Agt	p.R2130S	CUL9_ENST00000372647.2_Missense_Mutation_p.R2102S|CUL9_ENST00000354495.3_Missense_Mutation_p.R2020S|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2130					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.R2130S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCTTCATTCGTGCCATCGT	0.597																																						uc003ouk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(6388-6390)CGT>AGT		p53-associated parkin-like cytoplasmic protein							126.0	126.0	126.0					6																	43188302		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43188302C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6388C>A	6.37:g.43188302C>A	ENSP00000252050:p.Arg2130Ser					CUL9_uc003oul.2_Missense_Mutation_p.R2102S|CUL9_uc010jyk.2_Missense_Mutation_p.R1282S|CUL9_uc003oun.2_5'UTR	p.R2130S	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			32	6463	+			2130					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.6388C>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916800	0.52546	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73681	-0.77;-0.77;-0.65	5.44	5.44	0.79542	.	0.126281	0.53938	D	0.000041	T	0.43322	0.1242	L	0.35723	1.085	0.31635	N	0.648523	B;B;B	0.34372	0.451;0.322;0.322	B;B;B	0.29785	0.107;0.05;0.05	T	0.36480	-0.9746	10	0.24483	T	0.36	-14.7364	8.123	0.30982	0.1586:0.7564:0.0:0.085	.	2020;2102;2130	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	S	2130;2020;2102	ENSP00000252050:R2130S;ENSP00000346490:R2020S;ENSP00000361730:R2102S	ENSP00000252050:R2130S	R	+	1	0	CUL9	43296280	0.950000	0.32346	0.385000	0.26158	0.994000	0.84299	2.504000	0.45416	2.561000	0.86390	0.555000	0.69702	CGT		PASS	0.597	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		67	196	67	196	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46108002	46108002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:46108002G>T	ENST00000321037.4	+	2	912	c.682G>T	c.(682-684)Gaa>Taa	p.E228*		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	228					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.E228*(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						AGGGCTATGGGAAAATCTTAA	0.393																																						uc003oxy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(682-684)GAA>TAA		ectonucleotide pyrophosphatase/phosphodiesterase							120.0	113.0	115.0					6																	46108002		2203	4300	6503	SO:0001587	stop_gained	22875					integral to membrane	hydrolase activity	g.chr6:46108002G>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.682G>T	6.37:g.46108002G>T	ENSP00000318066:p.Glu228*						p.E228*	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	941	+			228			Extracellular (Potential).		A8K5G1|Q7L2N1	Nonsense_Mutation	SNP	ENST00000321037.4	37	c.682G>T	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	38	6.888029	0.97912	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	.	.	.	5.91	5.04	0.67666	.	0.194180	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.1982	14.8207	0.70070	0.0683:0.0:0.9317:0.0	.	.	.	.	X	228	.	ENSP00000318066:E228X	E	+	1	0	ENPP4	46215961	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.825000	0.55730	1.503000	0.48686	0.655000	0.94253	GAA		PASS	0.393	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			48	152	48	152	---	---	---	---
HTR1B	3351	broad.mit.edu	37	6	78172034	78172034	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:78172034G>C	ENST00000369947.2	-	1	1456	c.1087C>G	c.(1087-1089)Ctc>Gtc	p.L363V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	363					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.L363V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGGTTGATGAGGGAGTTGAGA	0.443																																						uc003pil.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1087-1089)CTC>GTC		5-hydroxytryptamine (serotonin) receptor 1B	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						139.0	130.0	133.0					6																	78172034		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172034G>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.1087C>G	6.37:g.78172034G>C	ENSP00000358963:p.Leu363Val						p.L363V	NM_000863	NP_000854	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1087	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	363			Helical; Name=7; (By similarity).		Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.1087C>G	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011852	0.54468	.	.	ENSG00000135312	ENST00000369947	T	0.37058	1.22	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.51210	0.1661	M	0.78223	2.4	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.51865	-0.8651	9	.	.	.	.	11.5547	0.50741	0.0807:0.0:0.9193:0.0	.	363	P28222	5HT1B_HUMAN	V	363	ENSP00000358963:L363V	.	L	-	1	0	HTR1B	78228753	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.211000	0.42825	2.767000	0.95098	0.561000	0.74099	CTC		PASS	0.443	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		46	136	46	136	---	---	---	---
TBC1D32	221322	broad.mit.edu	37	6	121638707	121638707	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:121638707G>C	ENST00000398212.2	-	3	478	c.429C>G	c.(427-429)atC>atG	p.I143M	TBC1D32_ENST00000275159.6_Missense_Mutation_p.I143M	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	143					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)	p.I143M(1)									TCTCCTTTTGGATTTTTTTCT	0.363																																						uc003pyo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(427-429)ATC>ATG		hypothetical protein LOC221322							316.0	285.0	295.0					6																	121638707		1873	4099	5972	SO:0001583	missense	221322				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	g.chr6:121638707G>C	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.429C>G	6.37:g.121638707G>C	ENSP00000381270:p.Ile143Met					C6orf170_uc003pyq.1_RNA	p.I143M	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN		GBM - Glioblastoma multiforme(226;0.00521)	3	497	-			143					Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	c.429C>G	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	G	5.415	0.261658	0.10239	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.25414	1.8;1.8;1.8	5.02	-3.78	0.04333	.	0.724429	0.13850	N	0.358384	T	0.04137	0.0115	N	0.21448	0.665	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.36529	-0.9744	10	0.40728	T	0.16	-12.9211	4.7215	0.12920	0.2155:0.4107:0.2848:0.089	.	143	Q96NH3	BROMI_HUMAN	M	143	ENSP00000275159:I143M;ENSP00000381270:I143M;ENSP00000397993:I143M	ENSP00000275159:I143M	I	-	3	3	C6orf170	121680406	0.000000	0.05858	0.013000	0.15412	0.836000	0.47400	-0.929000	0.03976	-0.610000	0.05716	-1.268000	0.01426	ATC		PASS	0.363	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730		67	178	67	178	---	---	---	---
TAAR5	9038	broad.mit.edu	37	6	132909846	132909846	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:132909846G>T	ENST00000258034.2	-	1	1031	c.980C>A	c.(979-981)cCg>cAg	p.P327Q		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	327					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.P327Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCGTGTCTGCGGTGAGAAGAC	0.483																																						uc003qdk.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(979-981)CCG>CAG		trace amine associated receptor 5							100.0	93.0	96.0					6																	132909846		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132909846G>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.980C>A	6.37:g.132909846G>T	ENSP00000258034:p.Pro327Gln						p.P327Q	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	1032	-	Breast(56;0.112)		327			Cytoplasmic (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.980C>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	G	1.027	-0.683159	0.03353	.	.	ENSG00000135569	ENST00000258034	T	0.36520	1.25	5.47	1.51	0.23008	.	0.543580	0.17832	N	0.160518	T	0.11024	0.0269	L	0.59436	1.845	0.09310	N	1	B	0.23377	0.084	B	0.17722	0.019	T	0.24225	-1.0166	10	0.22706	T	0.39	-2.596	3.8412	0.08915	0.1345:0.2348:0.5097:0.121	.	327	O14804	TAAR5_HUMAN	Q	327	ENSP00000258034:P327Q	ENSP00000258034:P327Q	P	-	2	0	TAAR5	132951539	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.375000	0.20518	0.421000	0.25980	-0.126000	0.14955	CCG		PASS	0.483	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		15	72	15	72	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599455	136599455	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:136599455T>C	ENST00000531224.1	-	4	816	c.564A>G	c.(562-564)aaA>aaG	p.K188K	BCLAF1_ENST00000530767.1_Silent_p.K188K|BCLAF1_ENST00000527759.1_Silent_p.K186K|BCLAF1_ENST00000392348.2_Silent_p.K186K|BCLAF1_ENST00000353331.4_Silent_p.K186K|BCLAF1_ENST00000527536.1_Silent_p.K188K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	188					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K188K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAAATGTATCTTTCGGTTCCT	0.408																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(562-564)AAA>AAG		BCL2-associated transcription factor 1 isoform							255.0	250.0	251.0					6																	136599455		2203	4300	6503	SO:0001819	synonymous_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599455T>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.564A>G	6.37:g.136599455T>C						BCLAF1_uc003qgw.1_Silent_p.K188K|BCLAF1_uc003qgy.1_Silent_p.K186K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K186K	p.K188K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	817	-	Colorectal(23;0.24)		188					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	c.564A>G	CCDS5177.1																																																																																				PASS	0.408	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		63	501	63	501	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152476141	152476141	+	Silent	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:152476141C>G	ENST00000367255.5	-	133	24616	c.24015G>C	c.(24013-24015)ctG>ctC	p.L8005L	SYNE1_ENST00000341594.5_Silent_p.L7617L|SYNE1_ENST00000265368.4_Silent_p.L8005L|SYNE1_ENST00000423061.1_Silent_p.L7934L|SYNE1_ENST00000356820.4_Silent_p.L2529L|SYNE1_ENST00000539504.1_Silent_p.L160L|SYNE1_ENST00000448038.1_Silent_p.L7934L|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Silent_p.L160L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8005					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.L8005L(2)|p.L7934L(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)		AATAGTCATCCAGAAATTTCT	0.458										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.(24013-24015)CTG>CTC		spectrin repeat containing, nuclear envelope 1							101.0	107.0	105.0					6																	152476141		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.chr6:152476141C>G	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.24015G>C	6.37:g.152476141C>G		HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Silent_p.L2529L|SYNE1_uc003qos.3_Silent_p.L2529L|SYNE1_uc003qot.3_Silent_p.L7934L|SYNE1_uc003qou.3_Silent_p.L8005L|SYNE1_uc003qop.3_Silent_p.L167L|SYNE1_uc011eez.1_Silent_p.L207L|SYNE1_uc003qoq.3_Silent_p.L207L|SYNE1_uc003qor.3_Silent_p.L905L	p.L8005L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	133	24617	-		Ovarian(120;0.0955)	8005			Spectrin 29.|Cytoplasmic (Potential).|HAT 12.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.24015G>C	CCDS5236.2																																																																																				PASS	0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		60	187	60	187	---	---	---	---
SLC22A1	6580	broad.mit.edu	37	6	160557644	160557644	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr6:160557644G>A	ENST00000366963.4	+	6	1170	c.1023G>A	c.(1021-1023)ccG>ccA	p.P341P	SLC22A1_ENST00000457470.2_Silent_p.P341P|SLC22A1_ENST00000324965.4_Silent_p.P341P	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	341			P -> L (reduction of the MPP uptake. Reduction of the MPP uptake; when associated with V-408. Partly reduction of TEA uptake. Largely localized in the plasma membrane; dbSNP:rs2282143). {ECO:0000269|PubMed:12719534, ECO:0000269|PubMed:14697261, ECO:0000269|PubMed:15499200}.		dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.P341P(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	TCCGCACGCCGCGCCTGAGGA	0.592																																						uc003qtc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1021-1023)CCG>CCA		solute carrier family 22 member 1 isoform a							154.0	125.0	135.0					6																	160557644		2203	4300	6503	SO:0001819	synonymous_variant	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160557644G>A	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1023G>A	6.37:g.160557644G>A						SLC22A1_uc003qtd.2_Silent_p.P341P	p.P341P	NM_003057	NP_003048	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	6	1128	+		Breast(66;0.000776)|Ovarian(120;0.00556)	341			Cytoplasmic (Potential).		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Silent	SNP	ENST00000366963.4	37	c.1023G>A	CCDS5274.1																																																																																				PASS	0.592	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			28	111	28	111	---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31018817	31018817	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:31018817G>A	ENST00000326139.2	+	13	1276	c.1230G>A	c.(1228-1230)acG>acA	p.T410T	GHRHR_ENST00000461424.1_Intron|GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.T346T	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	410					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.T410T(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	AGTGGACCACGCCTTCCCGCT	0.597																																						uc003tbx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(1228-1230)ACG>ACA		growth hormone releasing hormone receptor	Sermorelin(DB00010)						121.0	89.0	100.0					7																	31018817		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31018817G>A		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1230G>A	7.37:g.31018817G>A						GHRHR_uc003tby.2_Silent_p.T346T|GHRHR_uc003tbz.2_3'UTR	p.T410T	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			13	1278	+			410			Cytoplasmic (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.1230G>A	CCDS5432.1																																																																																				PASS	0.597	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			22	74	22	74	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38431468	38431468	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:38431468C>G	ENST00000356264.2	-	19	1974	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	AMPH_ENST00000428293.2_Missense_Mutation_p.E545Q|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000325590.5_Missense_Mutation_p.E545Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	587					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.E587Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCTTCTGCTCCGTAGCCAGC	0.622																																						uc003tgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(1759-1761)GAG>CAG		amphiphysin isoform 1							55.0	50.0	52.0					7																	38431468		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38431468C>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1759G>C	7.37:g.38431468C>G	ENSP00000348602:p.Glu587Gln					AMPH_uc003tgv.2_Missense_Mutation_p.E545Q|AMPH_uc003tgt.2_Missense_Mutation_p.E472Q|AMPH_uc003tgw.1_Missense_Mutation_p.E610Q|AMPH_uc010kxl.1_RNA	p.E587Q	NM_001635	NP_001626	P49418	AMPH_HUMAN			19	1828	-			587					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1759G>C	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.56|17.56	3.420247|3.420247	0.62622|0.62622	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|.	0.63096|.	0.02;0.04;-0.02|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.191758|.	0.44688|.	D|.	0.000436|.	T|T	0.55257|0.55257	0.1909|0.1909	L|L	0.32530|0.32530	0.975|0.975	0.40822|0.40822	D|D	0.983511|0.983511	P;P;D|.	0.65815|.	0.554;0.732;0.995|.	B;B;P|.	0.58721|.	0.33;0.38;0.844|.	T|T	0.51934|0.51934	-0.8642|-0.8642	10|5	0.40728|.	T|.	0.16|.	-14.3822|-14.3822	13.169|13.169	0.59587|0.59587	0.0:0.9272:0.0:0.0728|0.0:0.9272:0.0:0.0728	.|.	545;587;475|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	Q|A	545;587;545;489|469	ENSP00000317441:E545Q;ENSP00000348602:E587Q;ENSP00000390734:E545Q|.	ENSP00000317441:E545Q|.	E|G	-|-	1|2	0|0	AMPH|AMPH	38397993|38397993	0.997000|0.997000	0.39634|0.39634	0.161000|0.161000	0.22692|0.22692	0.028000|0.028000	0.11728|0.11728	3.910000|3.910000	0.56371|0.56371	2.718000|2.718000	0.92993|0.92993	0.591000|0.591000	0.81541|0.81541	GAG|GGA		PASS	0.622	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		23	48	23	48	---	---	---	---
ZNF273	10793	broad.mit.edu	37	7	64388241	64388241	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:64388241C>G	ENST00000476120.1	+	4	606	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E	ZNF273_ENST00000319636.5_Missense_Mutation_p.Q114E|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	179					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.Q179E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CAAAATATTTCAATGTGATAA	0.313																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	uc003tto.2																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)CAA>GAA		zinc finger protein 273							57.0	62.0	60.0					7																	64388241		2202	4296	6498	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388241C>G	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.535C>G	7.37:g.64388241C>G	ENSP00000418719:p.Gln179Glu					ZNF273_uc003ttl.2_Missense_Mutation_p.Q114E|ZNF273_uc003ttn.2_Missense_Mutation_p.Q114E	p.Q179E	NM_021148	NP_066971	Q14593	ZN273_HUMAN			4	611	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	179					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.535C>G	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	2.944	-0.218300	0.06101	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.07216	3.35;3.21	1.16	-2.32	0.06745	.	.	.	.	.	T	0.11281	0.0275	M	0.87269	2.87	0.09310	N	1	B	0.27416	0.178	B	0.29524	0.103	T	0.37079	-0.9721	9	0.31617	T	0.26	.	2.6843	0.05103	0.4734:0.2815:0.2451:0.0	.	179	Q14593	ZN273_HUMAN	E	179;114	ENSP00000418719:Q179E;ENSP00000324518:Q114E	ENSP00000324518:Q114E	Q	+	1	0	ZNF273	64025676	0.004000	0.15560	0.024000	0.17045	0.024000	0.10985	-0.392000	0.07314	0.202000	0.20498	0.205000	0.17691	CAA		PASS	0.313	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			44	117	44	117	---	---	---	---
CALN1	83698	broad.mit.edu	37	7	71743750	71743750	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:71743750C>A	ENST00000329008.5	-	2	337	c.39G>T	c.(37-39)aaG>aaT	p.K13N	CALN1_ENST00000431984.1_Missense_Mutation_p.K13N|CALN1_ENST00000405452.2_Missense_Mutation_p.K13N|CALN1_ENST00000395276.2_Missense_Mutation_p.K13N|CALN1_ENST00000395275.2_Missense_Mutation_p.K55N|CALN1_ENST00000412588.1_Missense_Mutation_p.K55N	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.K55N(1)|p.K13N(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GGTAATTCCCCTTGTACAACA	0.527																																						uc003twa.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(37-39)AAG>AAT		calneuron 1 isoform 2							89.0	66.0	74.0					7																	71743750		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71743750C>A	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.39G>T	7.37:g.71743750C>A	ENSP00000332498:p.Lys13Asn					CALN1_uc003twb.3_Missense_Mutation_p.K55N|CALN1_uc003twc.3_Missense_Mutation_p.K13N	p.K13N	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			2	566	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	13			Cytoplasmic (Potential).		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.39G>T	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032734	0.54790	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.74526	-0.42;-0.53;-0.42;-0.42;-0.53;-0.42;-0.85	5.94	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	N	0.14661	0.345	0.38186	D	0.939778	B;B	0.32245	0.361;0.361	B;B	0.24006	0.05;0.05	T	0.60161	-0.7317	10	0.56958	D	0.05	-2.1553	8.9757	0.35935	0.0:0.7934:0.0:0.2066	.	13;13	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	N	13;55;13;13;55;13;13	ENSP00000332498:K13N;ENSP00000378690:K55N;ENSP00000378691:K13N;ENSP00000410704:K13N;ENSP00000391882:K55N;ENSP00000384354:K13N;ENSP00000411806:K13N	ENSP00000332498:K13N	K	-	3	2	CALN1	71381686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.537000	0.36083	2.816000	0.96949	0.563000	0.77884	AAG		PASS	0.527	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		23	56	23	56	---	---	---	---
BAZ1B	9031	broad.mit.edu	37	7	72857134	72857134	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:72857134G>A	ENST00000339594.4	-	18	4353	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R1339W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1339					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.R1339W(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTTTGCCTCCGGGAGCTCCGC	0.502																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	uc003tyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	7						c.(4015-4017)CGG>TGG		bromodomain adjacent to zinc finger domain, 1B							64.0	62.0	63.0					7																	72857134		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72857134G>A	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4015C>T	7.37:g.72857134G>A	ENSP00000342434:p.Arg1339Trp						p.R1339W	NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN			18	4360	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	1339					B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.4015C>T	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933043	0.73442	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.19938	2.11;2.11	5.91	2.8	0.32819	Bromodomain (3);	0.051035	0.85682	D	0.000000	T	0.33789	0.0875	L	0.29908	0.895	0.53005	D	0.999964	D	0.89917	1.0	D	0.73708	0.981	T	0.06427	-1.0827	10	0.87932	D	0	-18.9843	15.5077	0.75753	0.0:0.0:0.6968:0.3032	.	1339	Q9UIG0	BAZ1B_HUMAN	W	1339	ENSP00000342434:R1339W;ENSP00000385442:R1339W	ENSP00000342434:R1339W	R	-	1	2	BAZ1B	72495070	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	1.810000	0.38932	0.237000	0.21200	0.655000	0.94253	CGG		PASS	0.502	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		22	73	22	73	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87150183	87150183	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:87150183C>T	ENST00000265724.3	-	23	3112	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E835K|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	899	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E899K(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTATTGCTTCAGTAGCGATC	0.373																																						uc003uiz.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2695-2697)GAA>AAA		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						97.0	87.0	90.0					7																	87150183		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87150183C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2695G>A	7.37:g.87150183C>T	ENSP00000265724:p.Glu899Lys					ABCB1_uc011khc.1_Missense_Mutation_p.E835K	p.E899K	NM_000927	NP_000918	P08183	MDR1_HUMAN			23	3113	-	Esophageal squamous(14;0.00164)		899			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2695G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	34	5.378193	0.95945	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.95690	-3.78;-3.78	5.28	5.28	0.74379	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047563	0.85682	D	0.000000	D	0.98707	0.9566	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.992	D	0.99694	1.1002	10	0.87932	D	0	-28.1942	18.9356	0.92584	0.0:1.0:0.0:0.0	.	835;899	B5AK60;P08183	.;MDR1_HUMAN	K	680;899;835	ENSP00000265724:E899K;ENSP00000444095:E835K	ENSP00000265724:E899K	E	-	1	0	ABCB1	86988119	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.334000	0.65923	2.467000	0.83353	0.655000	0.94253	GAA		PASS	0.373	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		40	103	40	103	---	---	---	---
AZGP1	563	broad.mit.edu	37	7	99569369	99569369	+	Splice_Site	SNP	C	C	T	rs377632165		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:99569369C>T	ENST00000292401.4	-	2	473	c.337G>A	c.(337-339)Ggg>Agg	p.G113R	AZGP1_ENST00000411734.1_Splice_Site_p.G110R	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	113					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.G113R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ATTCACTGACCGTTACTGTCG	0.517																																						uc003ush.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|central_nervous_system(1)	2						c.(337-339)GGG>AGG		alpha-2-glycoprotein 1, zinc		C	ARG/GLY	0,4406		0,0,2203	139.0	114.0	122.0		337	1.5	0.1	7		122	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	AZGP1	NM_001185.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	113/299	99569369	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99569369C>T	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.337+1G>A	7.37:g.99569369C>T							p.G113R	NM_001185	NP_001176	P25311	ZA2G_HUMAN			2	381	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		113					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	c.337G>A	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161102	0.38119	0.0	1.16E-4	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.92199	-2.99;-2.99	1.51	1.51	0.23008	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.32687	U	0.005769	D	0.95146	0.8427	M	0.88704	2.975	0.09310	N	1	D	0.89917	1.0	D	0.71184	0.972	D	0.87186	0.2231	10	0.87932	D	0	.	6.4356	0.21821	0.0:1.0:0.0:0.0	.	113	P25311	ZA2G_HUMAN	R	113;110	ENSP00000292401:G113R;ENSP00000396093:G110R	ENSP00000292401:G113R	G	-	1	0	AZGP1	99407305	0.986000	0.35501	0.052000	0.19188	0.003000	0.03518	3.536000	0.53582	1.130000	0.42092	0.313000	0.20887	GGG		PASS	0.517	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	Missense_Mutation	40	126	40	126	---	---	---	---
CPA2	1358	broad.mit.edu	37	7	129914999	129914999	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:129914999G>T	ENST00000222481.4	+	6	552	c.497G>T	c.(496-498)gGa>gTa	p.G166V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	166					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.G164V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTCAGCACCGGAGGAGACAAG	0.537																																						uc003vpq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)GGA>GTA		carboxypeptidase A2 (pancreatic) precursor							138.0	116.0	124.0					7																	129914999		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129914999G>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.497G>T	7.37:g.129914999G>T	ENSP00000222481:p.Gly166Val					CPA2_uc011kpc.1_Missense_Mutation_p.G166V	p.G166V	NM_001869	NP_001860	P48052	CBPA2_HUMAN			6	516	+	Melanoma(18;0.0435)		166					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.497G>T	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618176	0.87359	.	.	ENSG00000158516	ENST00000222481	T	0.04083	3.71	5.14	5.14	0.70334	Peptidase M14, carboxypeptidase A (2);	0.224876	0.40640	N	0.001058	T	0.32133	0.0819	H	0.94925	3.6	0.80722	D	1	D;D	0.65815	0.995;0.965	D;P	0.71184	0.972;0.901	T	0.43327	-0.9398	10	0.87932	D	0	.	17.7844	0.88533	0.0:0.0:1.0:0.0	.	164;166	B4DDX9;P48052	.;CBPA2_HUMAN	V	166	ENSP00000222481:G166V	ENSP00000222481:G166V	G	+	2	0	CPA2	129702235	1.000000	0.71417	0.980000	0.43619	0.959000	0.62525	9.263000	0.95617	2.687000	0.91594	0.655000	0.94253	GGA		PASS	0.537	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		27	61	27	61	---	---	---	---
SLC4A2	6522	broad.mit.edu	37	7	150769147	150769147	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:150769147C>T	ENST00000485713.1	+	16	3499	c.2459C>T	c.(2458-2460)tCc>tTc	p.S820F	SLC4A2_ENST00000413384.2_Missense_Mutation_p.S820F|SLC4A2_ENST00000310317.5_Missense_Mutation_p.S738F|SLC4A2_ENST00000392826.2_Missense_Mutation_p.S811F|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.S806F	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	820	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)	p.S820F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTTCGTCTCCCGCTTCACC	0.602																																						uc003wit.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2458-2460)TCC>TTC		solute carrier family 4, anion exchanger, member							180.0	179.0	180.0					7																	150769147		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150769147C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2459C>T	7.37:g.150769147C>T	ENSP00000419412:p.Ser820Phe					SLC4A2_uc011kve.1_Missense_Mutation_p.S811F|SLC4A2_uc003wiu.3_Missense_Mutation_p.S806F|SLC4A2_uc003wiv.3_Missense_Mutation_p.S14F	p.S820F	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	16	2715	+			820			Membrane (anion exchange).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.2459C>T	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281208	0.80692	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43	4.85	4.85	0.62838	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	M	0.91561	3.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.996;0.997	D	0.93212	0.6601	10	0.87932	D	0	.	15.534	0.75986	0.0:1.0:0.0:0.0	.	811;806;820	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	F	820;820;738;811;806	ENSP00000419412:S820F;ENSP00000405600:S820F;ENSP00000311402:S738F;ENSP00000376571:S811F;ENSP00000419164:S806F	ENSP00000311402:S738F	S	+	2	0	SLC4A2	150400080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.524000	0.85096	0.561000	0.74099	TCC		PASS	0.602	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		89	226	89	226	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158718960	158718960	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr7:158718960C>T	ENST00000407559.3	+	18	2498	c.2340C>T	c.(2338-2340)agC>agT	p.S780S		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	780					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S780S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAAGCAGAGCTTTGTGCTTT	0.413																																						uc003woe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2338-2340)AGC>AGT		WD repeat domain 60							76.0	72.0	73.0					7																	158718960		1883	4122	6005	SO:0001819	synonymous_variant	55112							g.chr7:158718960C>T		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2340C>T	7.37:g.158718960C>T						WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.S412S	p.S780S	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	18	2498	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	780			WD 2.		Q9NW58	Silent	SNP	ENST00000407559.3	37	c.2340C>T	CCDS47757.1																																																																																				PASS	0.413	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		5	28	5	28	---	---	---	---
ERI1	90459	broad.mit.edu	37	8	8887521	8887521	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:8887521C>A	ENST00000523898.1	+	8	1706	c.1027C>A	c.(1027-1029)Caa>Aaa	p.Q343K	ERI1_ENST00000519292.1_Missense_Mutation_p.Q343K|ERI1_ENST00000250263.7_Missense_Mutation_p.Q343K|ERI1_ENST00000520332.1_Intron			Q8IV48	ERI1_HUMAN	exoribonuclease 1	343					gene silencing by RNA (GO:0031047)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|rRNA 3'-end processing (GO:0031125)	cytoplasm (GO:0005737)|histone pre-mRNA 3'end processing complex (GO:0071204)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|histone pre-mRNA stem-loop binding (GO:0071207)|metal ion binding (GO:0046872)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)	p.Q343K(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						TCCACCACCACAAATGCCACA	0.428																																						uc011kwu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)CAA>AAA		three prime histone mRNA exonuclease 1	Adenosine monophosphate(DB00131)						94.0	82.0	86.0					8																	8887521		2203	4300	6503	SO:0001583	missense	90459				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding	g.chr8:8887521C>A	BC035279	CCDS5972.1	8p23.1	2008-12-16	2008-12-16	2008-12-16	ENSG00000104626	ENSG00000104626		"""Enhanced RNAi three prime mRNA exonucleases"""	23994	protein-coding gene	gene with protein product	"""exoribonuclease 1"", ""enhanced RNAi three prime mRNA exonuclease homolog 1 (C.elegans)"""	608739	"""three prime histone mRNA exonuclease 1"""	THEX1		14536070	Standard	NM_153332		Approved	3'HEXO	uc003wsk.2	Q8IV48	OTTHUMG00000129328	ENST00000523898.1:c.1027C>A	8.37:g.8887521C>A	ENSP00000429615:p.Gln343Lys					ERI1_uc003wsk.2_Missense_Mutation_p.Q343K	p.Q343K	NM_153332	NP_699163	Q8IV48	ERI1_HUMAN			7	1287	+			343					A8K4U7|Q9NSX3	Missense_Mutation	SNP	ENST00000523898.1	37	c.1027C>A	CCDS5972.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084139	0.55861	.	.	ENSG00000104626	ENST00000523898;ENST00000250263;ENST00000519292	T;T;T	0.43688	0.94;0.94;0.94	5.98	5.06	0.68205	.	0.148333	0.64402	D	0.000007	T	0.38188	0.1031	L	0.53249	1.67	0.58432	D	0.999997	B	0.30236	0.274	B	0.18871	0.023	T	0.28618	-1.0038	10	0.54805	T	0.06	-17.4764	15.1441	0.72637	0.1416:0.8584:0.0:0.0	.	343	Q8IV48	ERI1_HUMAN	K	343	ENSP00000429615:Q343K;ENSP00000250263:Q343K;ENSP00000430190:Q343K	ENSP00000250263:Q343K	Q	+	1	0	ERI1	8924931	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.325000	0.65869	2.835000	0.97688	0.650000	0.86243	CAA		PASS	0.428	ERI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251471.2	NM_153332		41	70	41	70	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12947965	12947965	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:12947965C>A	ENST00000276297.4	-	15	4279	c.3870G>T	c.(3868-3870)atG>atT	p.M1290I	DLC1_ENST00000358919.2_Missense_Mutation_p.M853I|DLC1_ENST00000520226.1_Missense_Mutation_p.M779I|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Missense_Mutation_p.M887I	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1290					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.M1290I(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GACATCGGCTCATTTCCTCGG	0.512																																						uc003wwm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(3868-3870)ATG>ATT		deleted in liver cancer 1 isoform 1							84.0	74.0	78.0					8																	12947965		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12947965C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3870G>T	8.37:g.12947965C>A	ENSP00000276297:p.Met1290Ile					DLC1_uc003wwk.1_Missense_Mutation_p.M853I|DLC1_uc003wwl.1_Missense_Mutation_p.M887I|DLC1_uc011kxx.1_Missense_Mutation_p.M779I	p.M1290I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			15	4314	-			1290					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3870G>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720261	0.89205	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.06294	3.57;3.34;3.33;3.32	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.19406	0.0466	L	0.52206	1.635	0.80722	D	1	B;B;D	0.57257	0.067;0.349;0.979	B;B;P	0.61477	0.04;0.222;0.889	T	0.00034	-1.2264	10	0.56958	D	0.05	.	19.2561	0.93947	0.0:1.0:0.0:0.0	.	1290;887;853	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	I	1290;853;229;887;779	ENSP00000276297:M1290I;ENSP00000351797:M853I;ENSP00000422595:M887I;ENSP00000428028:M779I	ENSP00000276297:M1290I	M	-	3	0	DLC1	12992336	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.462000	0.80851	2.861000	0.98227	0.655000	0.94253	ATG		PASS	0.512	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		35	52	35	52	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18457934	18457934	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:18457934T>C	ENST00000327040.8	-	12	2523	c.2421A>G	c.(2419-2421)ggA>ggG	p.G807G	PSD3_ENST00000428502.2_Silent_p.G136G|PSD3_ENST00000440756.2_Silent_p.G809G|PSD3_ENST00000523619.1_Silent_p.G742G|PSD3_ENST00000286485.8_Silent_p.G273G	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	808	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.G273G(1)|p.G809G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATCCTCGTTTTCCTCTTGGAG	0.338																																						uc003wza.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2419-2421)GGA>GGG		ADP-ribosylation factor guanine nucleotide							125.0	124.0	124.0					8																	18457934		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18457934T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2421A>G	8.37:g.18457934T>C						PSD3_uc003wyx.3_Silent_p.G136G|PSD3_uc003wyy.2_Silent_p.G273G|PSD3_uc003wyz.2_Silent_p.G108G	p.G807G	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	12	2524	-			808			PH.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.2421A>G	CCDS43720.1																																																																																				PASS	0.338	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		65	86	65	86	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205569	38205569	+	Missense_Mutation	SNP	C	C	T	rs149593190	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:38205569C>T	ENST00000317025.8	-	2	638	c.121G>A	c.(121-123)Gct>Act	p.A41T	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A41T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A41T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A41T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	41					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.A41T(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCATCTTCAGCAATGTCACTG	0.478			T	NUP98	AML								C|||	16	0.00319489	0.0113	0.0014	5008	,	,		20937	0.0		0.0	False		,,,				2504	0.0					uc003xli.2				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(121-123)GCT>ACT		WHSC1L1 protein isoform long		C	THR/ALA,THR/ALA	33,4373	37.6+/-69.7	0,33,2170	189.0	167.0	174.0		121,121	5.6	1.0	8	dbSNP_134	174	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	WHSC1L1	NM_017778.2,NM_023034.1	58,58	0,34,6469	TT,TC,CC		0.0116,0.749,0.2614	benign,benign	41/646,41/1438	38205569	34,12972	2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205569C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.121G>A	8.37:g.38205569C>T	ENSP00000313983:p.Ala41Thr					WHSC1L1_uc011lbm.1_Missense_Mutation_p.A41T|WHSC1L1_uc010lwe.2_Missense_Mutation_p.A41T|WHSC1L1_uc003xlj.2_Missense_Mutation_p.A41T	p.A41T	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	639	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	41					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.121G>A	CCDS43729.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	C	16.85	3.236153	0.58886	0.00749	1.16E-4	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95238	-3.64;-3.65;-3.65;-0.15;0.86	5.56	5.56	0.83823	.	0.324591	0.21506	U	0.073453	D	0.87637	0.6227	L	0.29908	0.895	0.36448	D	0.865881	B;B;B;B	0.09022	0.0;0.0;0.002;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	D	0.86795	0.1988	10	0.51188	T	0.08	.	14.1143	0.65142	0.0:0.9279:0.0:0.0721	.	41;41;41;41	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	T	41	ENSP00000393284:A41T;ENSP00000313983:A41T;ENSP00000434730:A41T;ENSP00000313410:A41T;ENSP00000435422:A41T	ENSP00000313410:A41T	A	-	1	0	WHSC1L1	38324726	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.731000	0.68554	2.765000	0.95021	0.655000	0.94253	GCT		PASS	0.478	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		30	262	30	262	---	---	---	---
ABRA	137735	broad.mit.edu	37	8	107773549	107773549	+	Missense_Mutation	SNP	G	G	A	rs200193774		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:107773549G>A	ENST00000311955.3	-	2	916	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.R288C(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCTTTGGGGCGGCCATAGCCC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		18766	0.001		0.0	False		,,,				2504	0.0					uc003ymm.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(862-864)CGC>TGC		actin-binding Rho activating protein							119.0	97.0	104.0					8																	107773549		2203	4300	6503	SO:0001583	missense	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107773549G>A	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.862C>T	8.37:g.107773549G>A	ENSP00000311436:p.Arg288Cys						p.R288C	NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		2	916	-			288						Missense_Mutation	SNP	ENST00000311955.3	37	c.862C>T	CCDS6305.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	16.22	3.060672	0.55432	.	.	ENSG00000174429	ENST00000311955	.	.	.	6.06	5.16	0.70880	.	0.152817	0.64402	D	0.000019	T	0.80210	0.4581	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82212	-0.0569	9	0.87932	D	0	-14.5469	16.8247	0.85927	0.0:0.0:0.8709:0.1291	.	288	Q8N0Z2	ABRA_HUMAN	C	288	.	ENSP00000311436:R288C	R	-	1	0	ABRA	107842725	0.389000	0.25205	0.989000	0.46669	0.175000	0.22909	3.086000	0.50159	2.882000	0.98803	0.655000	0.94253	CGC		PASS	0.498	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		34	79	34	79	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113243773	113243773	+	Splice_Site	SNP	C	C	A	rs148762244		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:113243773C>A	ENST00000297405.5	-	69	11073		c.e69+1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		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						GAATACATTACCCAGTCTTTG	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Unknown(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.e69+1		CUB and Sushi multiple domains 3 isoform 1							125.0	133.0	130.0					8																	113243773		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113243773C>A	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.10828+1G>T	8.37:g.113243773C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Splice_Site_p.G2812_splice|CSMD3_uc003ynt.2_Splice_Site_p.G3570_splice|CSMD3_uc011lhx.1_Splice_Site_p.G3441_splice	p.G3610_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			69	10987	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10828_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196702	0.79015	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1411	0.86754	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113312949	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.510000	0.81708	2.890000	0.99128	0.585000	0.79938	.		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	42	202	42	202	---	---	---	---
MTSS1	9788	broad.mit.edu	37	8	125711824	125711824	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:125711824C>A	ENST00000518547.1	-	3	624	c.151G>T	c.(151-153)Gca>Tca	p.A51S	MTSS1_ENST00000325064.5_Missense_Mutation_p.A51S|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.A51S	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	51	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.A51S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGCAGCTGCTGCTACTACT	0.468																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	uc003yrk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)GCA>TCA		metastasis suppressor 1							142.0	105.0	118.0					8																	125711824		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125711824C>A	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.151G>T	8.37:g.125711824C>A	ENSP00000429064:p.Ala51Ser					MTSS1_uc003yrj.2_Missense_Mutation_p.A51S|MTSS1_uc003yrl.2_Missense_Mutation_p.A51S	p.A51S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	685	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		51			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.151G>T	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.60|18.60	3.658150|3.658150	0.67586|0.67586	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064|ENST00000522162	T;T;T|.	0.33216|.	1.42;1.45;1.45|.	5.58|5.58	5.58|5.58	0.84498|0.84498	IRSp53/MIM homology domain (IMD) (3);|.	0.059439|.	0.64402|.	D|.	0.000003|.	T|T	0.68220|0.68220	0.2977|0.2977	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	P;B;B|.	0.46020|.	0.871;0.009;0.08|.	P;B;B|.	0.50270|.	0.636;0.299;0.142|.	T|T	0.63373|0.63373	-0.6652|-0.6652	10|5	0.30854|.	T|.	0.27|.	-10.2211|-10.2211	19.1748|19.1748	0.93600|0.93600	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	51;51;51|.	A5YM41;O43312;O43312-4|.	.;MTSS1_HUMAN;.|.	S|H	51|45	ENSP00000367256:A51S;ENSP00000429064:A51S;ENSP00000322804:A51S|.	ENSP00000322804:A51S|.	A|Q	-|-	1|3	0|2	MTSS1|MTSS1	125781005|125781005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.475000|6.475000	0.73582|0.73582	2.623000|2.623000	0.88846|0.88846	0.650000|0.650000	0.86243|0.86243	GCA|CAG		PASS	0.468	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		23	69	23	69	---	---	---	---
KCNK9	51305	broad.mit.edu	37	8	140630994	140630994	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:140630994T>G	ENST00000520439.1	-	2	695	c.632A>C	c.(631-633)aAg>aCg	p.K211T	KCNK9_ENST00000303015.1_Missense_Mutation_p.K211T|KCNK9_ENST00000523477.1_5'Flank	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	211					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.K211T(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CAGGGCACCCTTGGTCTGCAG	0.567																																						uc003yvf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(631-633)AAG>ACG		potassium channel, subfamily K, member 9							64.0	67.0	66.0					8																	140630994		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630994T>G	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.632A>C	8.37:g.140630994T>G	ENSP00000430676:p.Lys211Thr					KCNK9_uc003yvg.1_Missense_Mutation_p.K211T|KCNK9_uc003yve.1_RNA	p.K211T	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	696	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	211			Extracellular (Potential).		Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.632A>C	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.445921	0.25987	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.29397	1.57;1.57;1.57	5.85	4.69	0.59074	Ion transport 2 (1);	0.053261	0.64402	D	0.000001	T	0.22475	0.0542	N	0.25789	0.76	0.40285	D	0.978442	B	0.15473	0.013	B	0.16722	0.016	T	0.03695	-1.1012	10	0.41790	T	0.15	.	11.2398	0.48962	0.0:0.0713:0.0:0.9287	.	211	Q9NPC2	KCNK9_HUMAN	T	211	ENSP00000429847:K211T;ENSP00000302166:K211T;ENSP00000430676:K211T	ENSP00000302166:K211T	K	-	2	0	KCNK9	140700176	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	6.112000	0.71547	1.025000	0.39708	-0.290000	0.09829	AAG		PASS	0.567	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		18	78	18	78	---	---	---	---
ZNF250	58500	broad.mit.edu	37	8	146107675	146107675	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr8:146107675C>A	ENST00000292579.7	-	6	1024	c.908G>T	c.(907-909)cGg>cTg	p.R303L	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.R298L	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R303L(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CGTGTGGATCCGCTGGTGCTG	0.522																																					NSCLC(16;520 556 24096 40084 43446)	uc003zeq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(907-909)CGG>CTG		zinc finger protein 250 isoform a							62.0	55.0	57.0					8																	146107675		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107675C>A	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.908G>T	8.37:g.146107675C>A	ENSP00000292579:p.Arg303Leu					COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.3_Missense_Mutation_p.R298L|ZNF250_uc010mgg.2_Missense_Mutation_p.R298L	p.R303L	NM_021061	NP_066405	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1025	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		303			C2H2-type 4.		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.908G>T	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.804801	0.50315	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.25085	1.82;1.82	3.94	3.94	0.45596	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45126	D	0.000395	T	0.34803	0.0910	L	0.37507	1.11	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.85130	0.997;0.843	T	0.09862	-1.0655	10	0.87932	D	0	-43.1388	5.7964	0.18389	0.0:0.6966:0.1986:0.1048	.	298;303	D3DWP1;P15622	.;ZN250_HUMAN	L	303;298;298	ENSP00000292579:R303L;ENSP00000393442:R298L	ENSP00000292579:R303L	R	-	2	0	ZNF250	146078479	0.000000	0.05858	0.996000	0.52242	0.506000	0.33950	0.174000	0.16743	2.511000	0.84671	0.313000	0.20887	CGG		PASS	0.522	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		9	26	9	26	---	---	---	---
CHMP5	51510	broad.mit.edu	37	9	33270692	33270692	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:33270692C>G	ENST00000223500.8	+	4	430	c.293C>G	c.(292-294)tCt>tGt	p.S98C	CHMP5_ENST00000419016.2_Missense_Mutation_p.S98C	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	98					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S98C(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			ACCATCCAGTCTTTGAAGGAC	0.393																																						uc003zsl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)TCT>TGT		chromatin modifying protein 5							115.0	106.0	109.0					9																	33270692		2203	4300	6503	SO:0001583	missense	51510				cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding	g.chr9:33270692C>G	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765	ENST00000223500.8:c.293C>G	9.37:g.33270692C>G	ENSP00000223500:p.Ser98Cys					SUGT1P1_uc010mjq.1_Intron|CHMP5_uc003zsm.3_Missense_Mutation_p.S98C|CHMP5_uc011lnv.1_Missense_Mutation_p.S98C|CHMP5_uc003zsn.2_5'Flank	p.S98C	NM_016410	NP_057494	Q9NZZ3	CHMP5_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		5	648	+			98			Potential.		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Missense_Mutation	SNP	ENST00000223500.8	37	c.293C>G	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983878	0.93044	.	.	ENSG00000086065	ENST00000223500;ENST00000419016	T;T	0.74002	-0.8;-0.8	5.62	5.62	0.85841	.	0.173534	0.52532	D	0.000069	D	0.86188	0.5873	M	0.88105	2.93	0.50313	D	0.999869	P;P	0.52463	0.953;0.752	P;P	0.55785	0.784;0.759	D	0.88288	0.2941	10	0.72032	D	0.01	-11.1863	17.5138	0.87767	0.0:1.0:0.0:0.0	.	98;98	B4DIR6;Q9NZZ3	.;CHMP5_HUMAN	C	98	ENSP00000223500:S98C;ENSP00000442725:S98C	ENSP00000223500:S98C	S	+	2	0	CHMP5	33260692	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	4.594000	0.61041	2.804000	0.96469	0.655000	0.94253	TCT		PASS	0.393	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		56	69	56	69	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35793036	35793036	+	Nonsense_Mutation	SNP	G	G	T	rs201027721		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:35793036G>T	ENST00000342694.2	+	1	886	c.631G>T	c.(631-633)Gag>Tag	p.E211*		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	211					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E211*(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGGGGGCCCCGAGCAGGCCAC	0.642																																						uc003zyd.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|stomach(1)	3						c.(631-633)GAG>TAG		natriuretic peptide receptor B precursor	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)						19.0	21.0	21.0					9																	35793036		2201	4296	6497	SO:0001587	stop_gained	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35793036G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.631G>T	9.37:g.35793036G>T	ENSP00000341083:p.Glu211*					NPR2_uc010mlb.2_Nonsense_Mutation_p.E211*	p.E211*	NM_003995	NP_003986	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		1	631	+	all_epithelial(49;0.161)		211			Extracellular (Potential).		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	ENST00000342694.2	37	c.631G>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	37	6.467123	0.97590	.	.	ENSG00000159899	ENST00000342694	.	.	.	4.11	4.11	0.48088	.	0.000000	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	14.0232	0.64571	0.0:0.0:1.0:0.0	.	.	.	.	X	211	.	ENSP00000341083:E211X	E	+	1	0	NPR2	35783036	0.999000	0.42202	0.999000	0.59377	0.983000	0.72400	1.618000	0.36954	2.265000	0.75225	0.462000	0.41574	GAG		PASS	0.642	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			15	24	15	24	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90296478	90296478	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:90296478C>T	ENST00000408954.3	+	20	2496	c.2161C>T	c.(2161-2163)Ccc>Tcc	p.P721S	DAPK1_ENST00000491893.1_Missense_Mutation_p.P721S|DAPK1_ENST00000469640.2_Missense_Mutation_p.P721S|DAPK1_ENST00000472284.1_Missense_Mutation_p.P721S|DAPK1_ENST00000358077.5_Missense_Mutation_p.P721S	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	721					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P721S(2)|p.P722S(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAGGCGTCGGCCCAGACTGTC	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(1)|breast(1)	2						c.(2161-2163)CCC>TCC		death-associated protein kinase 1							52.0	55.0	54.0					9																	90296478		1926	4103	6029	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90296478C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.2161C>T	9.37:g.90296478C>T	ENSP00000386135:p.Pro721Ser					DAPK1_uc004apd.2_Missense_Mutation_p.P721S|DAPK1_uc011ltg.1_Missense_Mutation_p.P721S|DAPK1_uc011lth.1_Missense_Mutation_p.P458S|DAPK1_uc004apf.1_Missense_Mutation_p.P275S	p.P721S	NM_004938	NP_004929	P53355	DAPK1_HUMAN			20	2299	+			721					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.2161C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	1.889	-0.455889	0.04540	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.63913	-0.07;-0.07;-0.06;-0.07;-0.05	5.17	5.17	0.71159	.	0.000000	0.49916	D	0.000122	T	0.48978	0.1530	N	0.25647	0.755	0.45427	D	0.998409	P;P;P	0.38729	0.58;0.644;0.58	B;B;B	0.38985	0.196;0.287;0.196	T	0.46803	-0.9165	10	0.05833	T	0.94	.	18.529	0.90984	0.0:1.0:0.0:0.0	.	721;275;721	B7ZLE7;P53355-2;P53355	.;.;DAPK1_HUMAN	S	721	ENSP00000350785:P721S;ENSP00000417076:P721S;ENSP00000418885:P721S;ENSP00000386135:P721S;ENSP00000419026:P721S	ENSP00000350785:P721S	P	+	1	0	DAPK1	89486298	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	5.813000	0.69201	2.712000	0.92718	0.556000	0.70494	CCC		PASS	0.567	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		23	78	23	78	---	---	---	---
RP13-60M5.2	0	broad.mit.edu	37	9	91262338	91262338	+	lincRNA	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:91262338G>T	ENST00000418343.2	-	0	413																											CTTTTCTCTGGACACATGGAG	0.443																																						uc010mql.1																			0					0						c.(304-306)TCC>TAC		hypothetical protein LOC286238							63.0	66.0	65.0					9																	91262338		1933	4150	6083			286238							g.chr9:91262338G>T																													9.37:g.91262338G>T							p.S102Y	NM_001100111	NP_001093581					2	438	-									Missense_Mutation	SNP	ENST00000418343.2	37	c.305C>A																																																																																					PASS	0.443	RP13-60M5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052976.2			20	70	20	70	---	---	---	---
CENPP	401541	broad.mit.edu	37	9	95094543	95094543	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:95094543C>G	ENST00000375587.3	+	2	714	c.199C>G	c.(199-201)Ctt>Gtt	p.L67V		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	67					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.L67V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AGAATCAGAACTTTCATTTCT	0.358																																						uc004arz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(199-201)CTT>GTT		centromere protein P							67.0	65.0	66.0					9																	95094543		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95094543C>G	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.199C>G	9.37:g.95094543C>G	ENSP00000364737:p.Leu67Val					CENPP_uc010mqx.2_Intron|CENPP_uc004ary.1_Missense_Mutation_p.L67V	p.L67V	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN			2	739	+			67			Potential.		B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.199C>G	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068194	0.36470	.	.	ENSG00000188312	ENST00000375587	.	.	.	5.16	3.29	0.37713	.	0.263996	0.30723	N	0.009013	T	0.50548	0.1622	L	0.54323	1.7	0.80722	D	1	P	0.36768	0.569	B	0.34779	0.189	T	0.53809	-0.8386	9	0.66056	D	0.02	-5.0759	11.3051	0.49329	0.331:0.669:0.0:0.0	.	67	Q6IPU0	CENPP_HUMAN	V	67	.	ENSP00000364737:L67V	L	+	1	0	CENPP	94134364	0.919000	0.31177	0.995000	0.50966	0.885000	0.51271	0.753000	0.26376	0.812000	0.34326	0.551000	0.68910	CTT		PASS	0.358	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		34	76	34	76	---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101216305	101216305	+	Silent	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:101216305G>T	ENST00000259455.2	-	7	1653	c.1194C>A	c.(1192-1194)atC>atA	p.I398I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	398					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.I398I(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CATTGAGGATGATCCTGCCCA	0.557																																						uc004ays.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1192-1194)ATC>ATA		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						208.0	177.0	188.0					9																	101216305		2203	4300	6503	SO:0001819	synonymous_variant	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216305G>T	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1194C>A	9.37:g.101216305G>T							p.I398I	NM_005458	NP_005449	O75899	GABR2_HUMAN			7	1350	-		Acute lymphoblastic leukemia(62;0.0527)	398			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Silent	SNP	ENST00000259455.2	37	c.1194C>A	CCDS6736.1																																																																																				PASS	0.557	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			21	94	21	94	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117836043	117836043	+	Missense_Mutation	SNP	T	T	C	rs61729548		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:117836043T>C	ENST00000350763.4	-	10	3464	c.3053A>G	c.(3052-3054)aAt>aGt	p.N1018S	TNC_ENST00000423613.2_Missense_Mutation_p.N1018S|TNC_ENST00000340094.3_Missense_Mutation_p.N1018S|TNC_ENST00000341037.4_Missense_Mutation_p.N1018S|TNC_ENST00000537320.1_Missense_Mutation_p.N1018S|TNC_ENST00000346706.3_Missense_Mutation_p.N1018S|TNC_ENST00000535648.1_Missense_Mutation_p.N1018S|TNC_ENST00000345230.3_Missense_Mutation_p.N1018S|TNC_ENST00000542877.1_Missense_Mutation_p.N1018S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1018	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.N1018S(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGACTGTAATTGAGGCGGTA	0.552																																						uc004bjj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(3052-3054)AAT>AGT		tenascin C precursor							92.0	90.0	91.0					9																	117836043		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117836043T>C		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.3053A>G	9.37:g.117836043T>C	ENSP00000265131:p.Asn1018Ser					TNC_uc010mvf.2_Missense_Mutation_p.N1018S	p.N1018S	NM_002160	NP_002151	P24821	TENA_HUMAN			10	3415	-			1018			Fibronectin type-III 5.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.3053A>G	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	T	11.92	1.783576	0.31593	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	5.85	2.25	0.28309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.331984	0.36815	N	0.002400	T	0.36468	0.0968	N	0.16037	0.36	0.27735	N	0.944672	B;B	0.34290	0.447;0.013	B;B	0.44044	0.439;0.017	T	0.20338	-1.0278	10	0.44086	T	0.13	.	3.1097	0.06353	0.1033:0.1554:0.4446:0.2966	.	1018;1018	E9PC84;P24821	.;TENA_HUMAN	S	1018	ENSP00000344400:N1018S;ENSP00000438152:N1018S;ENSP00000344555:N1018S;ENSP00000345861:N1018S;ENSP00000265131:N1018S;ENSP00000339553:N1018S;ENSP00000411406:N1018S;ENSP00000443478:N1018S;ENSP00000442242:N1018S	ENSP00000344400:N1018S	N	-	2	0	TNC	116875864	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.490000	0.35573	0.461000	0.27071	-0.379000	0.06801	AAT		PASS	0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		36	85	36	85	---	---	---	---
BRINP1	1620	broad.mit.edu	37	9	121971119	121971119	+	Silent	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:121971119G>T	ENST00000265922.3	-	7	1484	c.1023C>A	c.(1021-1023)cgC>cgA	p.R341R	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	341					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.R341R(1)									GGAGCTTGTAGCGGTTCTGCA	0.547																																						uc004bkc.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1021-1023)CGC>CGA		deleted in bladder cancer 1 precursor							157.0	135.0	142.0					9																	121971119		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121971119G>T	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.1023C>A	9.37:g.121971119G>T							p.R341R	NM_014618	NP_055433	O60477	DBC1_HUMAN			7	1479	-			341					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1023C>A	CCDS6822.1																																																																																				PASS	0.547	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		33	75	33	75	---	---	---	---
STKLD1	169436	broad.mit.edu	37	9	136255349	136255349	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:136255349G>C	ENST00000371957.3	+	6	543	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.E146Q(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGACGCGCTGGAATACCTGCA	0.627																																						uc004cdk.2																			2	Substitution - Missense(2)		lung(2)	stomach(2)|central_nervous_system(2)	4						c.(436-438)GAA>CAA		hypothetical protein LOC169436							103.0	79.0	87.0					9																	136255349		2201	4300	6501	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136255349G>C																												ENST00000371957.3:c.436G>C	9.37:g.136255349G>C	ENSP00000361025:p.Glu146Gln					C9orf96_uc004cdl.2_RNA	p.E146Q	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	6	497	+			146			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.436G>C	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281196	0.23392	.	.	ENSG00000198870	ENST00000371957	T	0.66815	-0.23	4.89	3.98	0.46160	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.247540	0.05455	N	0.550213	T	0.55705	0.1937	N	0.25957	0.775	0.32517	N	0.536837	B	0.26902	0.163	B	0.27076	0.076	T	0.46331	-0.9199	10	0.13853	T	0.58	-2.5786	11.7358	0.51765	0.0:0.1777:0.8223:0.0	.	146	Q8NE28	SGK71_HUMAN	Q	146	ENSP00000361025:E146Q	ENSP00000361025:E146Q	E	+	1	0	C9orf96	135245170	0.967000	0.33354	0.186000	0.23195	0.949000	0.60115	1.631000	0.37092	1.166000	0.42689	0.644000	0.83932	GAA		PASS	0.627	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			6	37	6	37	---	---	---	---
PHPT1	29085	broad.mit.edu	37	9	139748260	139748260	+	IGR	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr9:139748260T>C	ENST00000247665.10	+	0	890				MAMDC4_ENST00000445819.1_Silent_p.H162H|MAMDC4_ENST00000317446.2_Silent_p.H162H|MAMDC4_ENST00000485732.1_3'UTR	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)	p.H162H(2)		NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGCTGACCCATGGCGCAGAGA	0.687																																						uc004cjs.2																			2	Substitution - coding silent(2)		lung(2)	breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1)	7						c.(484-486)CAT>CAC		apical early endosomal glycoprotein precursor							21.0	26.0	24.0					9																	139748260		2195	4296	6491	SO:0001628	intergenic_variant	158056				protein transport	integral to membrane		g.chr9:139748260T>C	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950		9.37:g.139748260T>C						MAMDC4_uc011mej.1_5'UTR	p.H162H	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	5	536	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	162			Extracellular (Potential).|MAM 1.		B1AMX0|B1AMX1|Q9H0Y3	Silent	SNP	ENST00000247665.10	37	c.486T>C	CCDS7009.1	.	.	.	.	.	.	.	.	.	.	.	0.109	-1.141590	0.01728	.	.	ENSG00000177943	ENST00000413647	.	.	.	4.69	-4.88	0.03113	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.38610	D	0.950872	.	.	.	.	.	.	T	0.58498	-0.7626	4	.	.	.	-20.5009	13.117	0.59305	0.0:0.6288:0.0:0.3712	.	.	.	.	R	144	.	.	W	+	1	0	MAMDC4	138868081	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.846000	0.04336	-1.356000	0.02183	-0.537000	0.04273	TGG		PASS	0.687	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055150.1	NM_014172		14	30	14	30	---	---	---	---
GTPBP4	23560	broad.mit.edu	37	10	1061808	1061808	+	Missense_Mutation	SNP	G	G	C	rs369165113		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:1061808G>C	ENST00000360803.4	+	16	1806	c.1724G>C	c.(1723-1725)cGt>cCt	p.R575P	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R528P|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R459P	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	575					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.R575P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CGAACTCCACGTGACGTTTCT	0.507																																						uc001ift.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1723-1725)CGT>CCT		G protein-binding protein CRFG							191.0	170.0	177.0					10																	1061808		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1061808G>C	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1724G>C	10.37:g.1061808G>C	ENSP00000354040:p.Arg575Pro					GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Missense_Mutation_p.R459P|GTPBP4_uc010qae.1_Missense_Mutation_p.R528P	p.R575P	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	16	1795	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	575					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1724G>C	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361575	0.61403	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.35236	1.32;1.33;1.33	5.67	5.67	0.87782	.	0.102587	0.64402	D	0.000002	T	0.65780	0.2724	M	0.82323	2.585	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.69731	-0.5066	10	0.87932	D	0	-6.3703	19.7591	0.96306	0.0:0.0:1.0:0.0	.	575	Q9BZE4	NOG1_HUMAN	P	575;459;528	ENSP00000354040:R575P;ENSP00000444277:R459P;ENSP00000445473:R528P	ENSP00000354040:R575P	R	+	2	0	GTPBP4	1051808	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.991000	0.88244	2.671000	0.90904	0.591000	0.81541	CGT		PASS	0.507	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		95	272	95	272	---	---	---	---
UPF2	26019	broad.mit.edu	37	10	12071426	12071426	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:12071426G>A	ENST00000356352.2	-	2	936	c.463C>T	c.(463-465)Cga>Tga	p.R155*	UPF2_ENST00000357604.5_Nonsense_Mutation_p.R155*|UPF2_ENST00000397053.2_Nonsense_Mutation_p.R155*			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	155					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R155*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCCTCTGGTCGGCTGTCCGGA	0.403																																						uc001ila.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(463-465)CGA>TGA		UPF2 regulator of nonsense transcripts homolog							96.0	107.0	103.0					10																	12071426		2203	4299	6502	SO:0001587	stop_gained	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:12071426G>A	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.463C>T	10.37:g.12071426G>A	ENSP00000348708:p.Arg155*					UPF2_uc001ilb.2_Nonsense_Mutation_p.R155*|UPF2_uc001ilc.2_Nonsense_Mutation_p.R155*|UPF2_uc009xiz.1_Nonsense_Mutation_p.R155*	p.R155*	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN			2	937	-		Renal(717;0.228)	155					A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Nonsense_Mutation	SNP	ENST00000356352.2	37	c.463C>T	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	37	6.516055	0.97629	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	.	.	.	5.59	4.67	0.58626	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9472	0.79803	0.0:0.0:0.8639:0.1361	.	.	.	.	X	155;155;125;155;125	.	ENSP00000313617:R125X	R	-	1	2	UPF2	12111432	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.428000	0.66489	1.457000	0.47850	0.563000	0.77884	CGA		PASS	0.403	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			123	262	123	262	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17024556	17024556	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:17024556C>A	ENST00000377833.4	-	31	4687	c.4622G>T	c.(4621-4623)cGg>cTg	p.R1541L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1541	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R1541L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGTCAACCCGAATGACCCA	0.428																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4621-4623)CGG>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						132.0	108.0	116.0					10																	17024556		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17024556C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4622G>T	10.37:g.17024556C>A	ENSP00000367064:p.Arg1541Leu						p.R1541L	NM_001081	NP_001072	O60494	CUBN_HUMAN			31	4674	-			1541			CUB 10.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4622G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728872	0.30684	.	.	ENSG00000107611	ENST00000377833;ENST00000438254	T;T	0.19105	2.17;2.17	5.3	-2.51	0.06365	CUB (5);	0.954766	0.08533	N	0.931784	T	0.21145	0.0509	L	0.52573	1.65	0.09310	N	1	P	0.41102	0.738	B	0.39419	0.299	T	0.33111	-0.9881	10	0.46703	T	0.11	.	13.6745	0.62445	0.0:0.5616:0.0:0.4384	.	1541	O60494	CUBN_HUMAN	L	1541;63	ENSP00000367064:R1541L;ENSP00000391830:R63L	ENSP00000367064:R1541L	R	-	2	0	CUBN	17064562	0.016000	0.18221	0.117000	0.21633	0.046000	0.14306	0.119000	0.15626	-0.296000	0.08947	-0.218000	0.12543	CGG		PASS	0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		19	93	19	93	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17024567	17024567	+	Silent	SNP	A	A	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:17024567A>C	ENST00000377833.4	-	31	4676	c.4611T>G	c.(4609-4611)tcT>tcG	p.S1537S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1537	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S1537S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATGACCCAAGAACAGTCTG	0.438																																						uc001ioo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4609-4611)TCT>TCG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						125.0	102.0	110.0					10																	17024567		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17024567A>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4611T>G	10.37:g.17024567A>C							p.S1537S	NM_001081	NP_001072	O60494	CUBN_HUMAN			31	4663	-			1537			CUB 10.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.4611T>G	CCDS7113.1																																																																																				PASS	0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	82	22	82	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43089465	43089465	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:43089465C>A	ENST00000359467.3	-	5	1047	c.933G>T	c.(931-933)agG>agT	p.R311S	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R311S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ACAATTTCCTCCTGAAATTAT	0.403																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)AGG>AGT		zinc finger protein 33B							120.0	118.0	118.0					10																	43089465		2203	4299	6502	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43089465C>A	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.933G>T	10.37:g.43089465C>A	ENSP00000352444:p.Arg311Ser					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.R199S|ZNF33B_uc001jad.2_Intron	p.R311S	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	1048	-			311					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.933G>T	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.365565	0.00212	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.13901	2.55	2.28	1.33	0.21861	.	0.452872	0.16772	N	0.200154	T	0.04679	0.0127	N	0.05383	-0.06	0.09310	N	1	B	0.24483	0.104	B	0.19148	0.024	T	0.42616	-0.9441	10	0.02654	T	1	.	6.7547	0.23507	0.5051:0.4949:0.0:0.0	.	311	Q06732	ZN33B_HUMAN	S	311;277	ENSP00000352444:R311S	ENSP00000352444:R311S	R	-	3	2	ZNF33B	42409471	0.000000	0.05858	0.737000	0.30932	0.577000	0.36160	-3.400000	0.00484	0.521000	0.28445	0.416000	0.27883	AGG		PASS	0.403	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		105	227	105	227	---	---	---	---
C10orf107	219621	broad.mit.edu	37	10	63519928	63519928	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:63519928A>G	ENST00000330194.2	+	5	705	c.400A>G	c.(400-402)Acg>Gcg	p.T134A		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	134								p.T134A(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					AATATTGGATACGGAAATGAA	0.388																																						uc010qik.1																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)ACG>GCG		hypothetical protein LOC219621							89.0	86.0	87.0					10																	63519928		2203	4300	6503	SO:0001583	missense	219621							g.chr10:63519928A>G	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.400A>G	10.37:g.63519928A>G	ENSP00000328698:p.Thr134Ala						p.T134A	NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN			5	705	+	Prostate(12;0.016)		134					Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	c.400A>G	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	A	4.034	0.003910	0.07866	.	.	ENSG00000183346	ENST00000330194	.	.	.	5.58	3.08	0.35506	.	1.392880	0.04577	N	0.394371	T	0.45337	0.1337	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.27400	-1.0075	9	0.33940	T	0.23	1.9652	6.4104	0.21688	0.6925:0.1469:0.1606:0.0	.	134	Q8IVU9	CJ107_HUMAN	A	134	.	ENSP00000328698:T134A	T	+	1	0	C10orf107	63189934	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.372000	0.07504	0.936000	0.37367	0.533000	0.62120	ACG		PASS	0.388	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		36	117	36	117	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69881341	69881341	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:69881341G>T	ENST00000358913.5	+	2	634	c.146G>T	c.(145-147)gGg>gTg	p.G49V	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.G49V|MYPN_ENST00000373675.3_Missense_Mutation_p.G49V	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	49	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.G49V(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGTCCTTCTGGGGCCGCTGAA	0.527																																						uc001jnm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(145-147)GGG>GTG		myopalladin							54.0	53.0	53.0					10																	69881341		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881341G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.146G>T	10.37:g.69881341G>T	ENSP00000351790:p.Gly49Val					MYPN_uc001jnl.1_Missense_Mutation_p.G49V|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.G49V|MYPN_uc001jnp.1_Missense_Mutation_p.G49V|MYPN_uc009xps.2_Missense_Mutation_p.G49V|MYPN_uc009xpt.2_Missense_Mutation_p.G49V|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.G49V	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	331	+			49			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.146G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551028	0.65311	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.64991	0.28;0.26;-0.13	6.03	4.16	0.48862	.	0.231260	0.44097	D	0.000484	T	0.57140	0.2033	L	0.47716	1.5	0.80722	D	1	B;B	0.29955	0.263;0.172	B;B	0.36922	0.236;0.119	T	0.50491	-0.8822	9	.	.	.	.	11.5578	0.50759	0.0644:0.0:0.8104:0.1252	.	49;49	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	V	49	ENSP00000351790:G49V;ENSP00000441668:G49V;ENSP00000362779:G49V	.	G	+	2	0	MYPN	69551347	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.491000	0.45303	0.854000	0.35336	-0.126000	0.14955	GGG		PASS	0.527	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		34	121	34	121	---	---	---	---
PBLD	64081	broad.mit.edu	37	10	70043999	70043999	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:70043999G>T	ENST00000358769.2	-	10	1004	c.802C>A	c.(802-804)Cca>Aca	p.P268T	PBLD_ENST00000309049.4_Missense_Mutation_p.P268T|PBLD_ENST00000336578.1_Missense_Mutation_p.P235T	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	268					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.P268T(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTTCCGTCTGGACGAAGGGAA	0.458																																						uc001jns.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(802-804)CCA>ACA		MAWD binding protein isoform a							189.0	156.0	167.0					10																	70043999		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70043999G>T	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.802C>A	10.37:g.70043999G>T	ENSP00000351619:p.Pro268Thr					PBLD_uc001jnr.1_Missense_Mutation_p.P235T|PBLD_uc001jnt.1_Missense_Mutation_p.P268T	p.P268T	NM_022129	NP_071412	P30039	PBLD_HUMAN			10	1005	-			268					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.802C>A	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	G	9.407	1.079590	0.20309	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049	T;T;T	0.28666	1.6;1.6;1.6	6.03	-1.25	0.09405	.	0.508381	0.19328	N	0.116968	T	0.24275	0.0588	L	0.46819	1.47	0.09310	N	0.999996	B	0.19817	0.039	B	0.27380	0.079	T	0.24297	-1.0164	10	0.44086	T	0.13	-2.2228	8.3497	0.32295	0.2657:0.4237:0.3106:0.0	.	268	P30039	PBLD_HUMAN	T	235;268;268	ENSP00000338041:P235T;ENSP00000351619:P268T;ENSP00000308466:P268T	ENSP00000308466:P268T	P	-	1	0	PBLD	69714005	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.287000	0.08388	-0.169000	0.10834	0.655000	0.94253	CCA		PASS	0.458	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		43	188	43	188	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84498359	84498359	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:84498359G>C	ENST00000404547.1	+	3	980	c.980G>C	c.(979-981)cGt>cCt	p.R327P	NRG3_ENST00000372142.2_Missense_Mutation_p.R106P|NRG3_ENST00000556918.1_Missense_Mutation_p.R157P|NRG3_ENST00000372141.2_Missense_Mutation_p.R327P|NRG3_ENST00000404576.2_Missense_Mutation_p.R131P			P56975	NRG3_HUMAN	neuregulin 3	327	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R106P(1)|p.R327P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAAGGAGTCCGTTGTGATCAA	0.388																																						uc001kco.2																			2	Substitution - Missense(2)		lung(2)	lung(5)|breast(1)	6						c.(979-981)CGT>CCT		neuregulin 3 isoform 1							160.0	140.0	147.0					10																	84498359		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84498359G>C	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.980G>C	10.37:g.84498359G>C	ENSP00000384796:p.Arg327Pro					NRG3_uc010qlz.1_Missense_Mutation_p.R327P|NRG3_uc001kcp.2_Missense_Mutation_p.R106P|NRG3_uc001kcq.2_5'UTR	p.R327P	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	3	1007	+			327			EGF-like.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.980G>C	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815022	0.90790	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.84	5.84	0.93424	.	0.157867	0.41396	N	0.000888	T	0.69378	0.3104	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75803	-0.3189	10	0.87932	D	0	-8.8687	17.6318	0.88111	0.0:0.0:1.0:0.0	.	327;106;327	B9EGV5;P56975-3;P56975-4	.;.;.	P	327;327;327;106;131;157	ENSP00000361214:R327P;ENSP00000384796:R327P;ENSP00000361215:R106P;ENSP00000385804:R131P;ENSP00000451376:R157P	ENSP00000361214:R327P	R	+	2	0	NRG3	84488339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.221000	0.95188	2.779000	0.95612	0.655000	0.94253	CGT		PASS	0.388	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		37	148	37	148	---	---	---	---
IFIT2	3433	broad.mit.edu	37	10	91066005	91066005	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:91066005G>A	ENST00000371826.3	+	2	461	c.292G>A	c.(292-294)Gga>Aga	p.G98R	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	98					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)	p.G98R(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGTCACCTGGGGAAACTATGC	0.483																																						uc009xts.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(292-294)GGA>AGA		interferon-induced protein with							78.0	82.0	80.0					10																	91066005		2199	4299	6498	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066005G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.292G>A	10.37:g.91066005G>A	ENSP00000360891:p.Gly98Arg					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.G98R	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	467	+		Colorectal(252;0.0161)	98					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.292G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704418	0.68615	.	.	ENSG00000119922	ENST00000371826	T	0.73469	-0.75	4.58	4.58	0.56647	Tetratricopeptide-like helical (1);	0.069862	0.56097	U	0.000022	D	0.86243	0.5886	M	0.89414	3.03	0.47009	D	0.99928	D	0.89917	1.0	D	0.68192	0.956	D	0.87633	0.2517	10	0.87932	D	0	-6.4851	11.0926	0.48125	0.0853:0.0:0.9147:0.0	.	98	P09913	IFIT2_HUMAN	R	98	ENSP00000360891:G98R	ENSP00000360891:G98R	G	+	1	0	IFIT2	91055985	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.257000	0.65473	2.832000	0.97577	0.655000	0.94253	GGA		PASS	0.483	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		27	76	27	76	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92508608	92508608	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:92508608G>C	ENST00000336152.3	-	2	1309	c.1283C>G	c.(1282-1284)cCt>cGt	p.P428R	HTR7_ENST00000371721.3_Missense_Mutation_p.P428R|HTR7_ENST00000371719.2_Missense_Mutation_p.P428R|HTR7_ENST00000277874.6_Missense_Mutation_p.P428R	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	428					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.P428R(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CACAAACTCAGGTCTCTCTGG	0.488																																						uc001kha.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1282-1284)CCT>CGT		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						97.0	104.0	102.0					10																	92508608		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508608G>C	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1283C>G	10.37:g.92508608G>C	ENSP00000337949:p.Pro428Arg					HTR7_uc001kgz.2_Missense_Mutation_p.P428R|HTR7_uc001khb.2_Missense_Mutation_p.P428R	p.P428R	NM_019859	NP_062873	P34969	5HT7R_HUMAN			2	1526	-			428			Cytoplasmic (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1283C>G	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	1.779	-0.482498	0.04383	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.64803	-0.12;-0.07;-0.06;-0.06	4.26	3.34	0.38264	.	1.222160	0.05631	N	0.581780	T	0.46112	0.1376	N	0.14661	0.345	0.09310	N	1	B;B	0.29085	0.232;0.126	B;B	0.31751	0.07;0.135	T	0.27088	-1.0084	10	0.09843	T	0.71	.	10.4814	0.44695	0.0:0.1954:0.8046:0.0	.	428;428	P34969;P34969-2	5HT7R_HUMAN;.	R	428	ENSP00000337949:P428R;ENSP00000277874:P428R;ENSP00000360784:P428R;ENSP00000360786:P428R	ENSP00000277874:P428R	P	-	2	0	HTR7	92498588	0.000000	0.05858	0.009000	0.14445	0.142000	0.21351	0.390000	0.20768	1.364000	0.46038	0.650000	0.86243	CCT		PASS	0.488	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		66	198	66	198	---	---	---	---
SORBS1	10580	broad.mit.edu	37	10	97192217	97192217	+	Missense_Mutation	SNP	C	C	T	rs201169599		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:97192217C>T	ENST00000361941.3	-	4	315	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	SORBS1_ENST00000371227.4_Missense_Mutation_p.E97K|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000607232.1_Missense_Mutation_p.E65K|SORBS1_ENST00000371246.2_Missense_Mutation_p.E97K|SORBS1_ENST00000393949.1_Missense_Mutation_p.E97K|SORBS1_ENST00000306402.6_Missense_Mutation_p.E97K|SORBS1_ENST00000347291.4_Missense_Mutation_p.E97K|SORBS1_ENST00000371239.1_Missense_Mutation_p.E65K|SORBS1_ENST00000371249.2_Missense_Mutation_p.E65K|SORBS1_ENST00000371245.3_Missense_Mutation_p.E97K|SORBS1_ENST00000353505.5_Missense_Mutation_p.E97K|SORBS1_ENST00000277982.5_Missense_Mutation_p.E97K|SORBS1_ENST00000354106.3_Missense_Mutation_p.E97K|SORBS1_ENST00000371247.2_Missense_Mutation_p.E97K|SORBS1_ENST00000371241.1_Missense_Mutation_p.E65K	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.E97K(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGTTTGCTTTCGTGTTGCCGG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17580	0.0		0.0	False		,,,				2504	0.0					uc001kkp.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(289-291)GAA>AAA		sorbin and SH3 domain containing 1 isoform 3							113.0	116.0	115.0					10																	97192217		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97192217C>T	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.289G>A	10.37:g.97192217C>T	ENSP00000355136:p.Glu97Lys					SORBS1_uc001kkn.2_Missense_Mutation_p.E53K|SORBS1_uc001kkm.2_Missense_Mutation_p.E85K|SORBS1_uc001kko.2_Missense_Mutation_p.E97K|SORBS1_uc001kkq.2_Missense_Mutation_p.E97K|SORBS1_uc001kkr.2_Missense_Mutation_p.E65K|SORBS1_uc001kks.2_Missense_Mutation_p.E65K|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.E97K|SORBS1_uc001kkv.2_Missense_Mutation_p.E65K|SORBS1_uc001kkw.2_Missense_Mutation_p.E97K|SORBS1_uc010qoe.1_Missense_Mutation_p.E65K|SORBS1_uc010qof.1_Missense_Mutation_p.E65K|SORBS1_uc001kkx.1_Missense_Mutation_p.E65K	p.E97K	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	4	334	-		Colorectal(252;0.0429)	97						Missense_Mutation	SNP	ENST00000361941.3	37	c.289G>A	CCDS31255.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.71	3.878188	0.72294	.	.	ENSG00000095637	ENST00000371245;ENST00000306402;ENST00000371249;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000371241;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28666	3.2;2.64;2.56;2.92;2.83;3.21;2.82;3.2;2.77;2.92;3.21;1.6;2.82;2.69	5.75	5.75	0.90469	.	0.639884	0.12941	N	0.426573	T	0.47322	0.1439	L	0.29908	0.895	0.09310	N	0.999992	P;P;D;D;D;P;D;D;D;D;D;D	0.89917	0.871;0.509;1.0;1.0;1.0;0.943;1.0;1.0;0.994;1.0;1.0;0.971	B;B;D;D;D;P;D;D;P;D;D;P	0.85130	0.148;0.054;0.996;0.997;0.997;0.725;0.997;0.997;0.589;0.994;0.997;0.725	T	0.44937	-0.9295	10	0.72032	D	0.01	-3.0216	17.1049	0.86659	0.0:1.0:0.0:0.0	.	65;65;65;97;65;97;65;65;97;97;97;97	B7Z9B7;B4DTX5;F2Z2S3;Q9BX66-11;Q9BX66-10;Q9BX66-9;Q9BX66-4;Q9BX66-8;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6	.;.;.;.;.;.;.;.;.;SRBS1_HUMAN;.;.	K	97;97;65;97;97;97;97;97;97;97;97;65;97;65	ENSP00000360291:E97K;ENSP00000302556:E97K;ENSP00000360295:E65K;ENSP00000360293:E97K;ENSP00000360271:E97K;ENSP00000360292:E97K;ENSP00000377521:E97K;ENSP00000343998:E97K;ENSP00000277985:E97K;ENSP00000355136:E97K;ENSP00000277982:E97K;ENSP00000360285:E65K;ENSP00000277984:E97K;ENSP00000360283:E65K	ENSP00000277982:E97K	E	-	1	0	SORBS1	97182207	0.994000	0.37717	0.029000	0.17559	0.613000	0.37349	4.535000	0.60629	2.706000	0.92434	0.655000	0.94253	GAA		PASS	0.597	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			50	140	50	140	---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114724335	114724335	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr10:114724335C>T	ENST00000355995.4	+	4	909	c.402C>T	c.(400-402)agC>agT	p.S134S	TCF7L2_ENST00000542695.1_Intron|TCF7L2_ENST00000536810.1_Silent_p.S134S|TCF7L2_ENST00000349937.2_Silent_p.S134S|TCF7L2_ENST00000369397.4_Intron|TCF7L2_ENST00000352065.5_Intron|TCF7L2_ENST00000545257.1_Silent_p.S134S|TCF7L2_ENST00000538897.1_Silent_p.S134S|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000534894.1_Silent_p.S134S|TCF7L2_ENST00000543371.1_Silent_p.S134S|TCF7L2_ENST00000369395.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	134					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S134S(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGTCCGGCAGCACACATTACT	0.393			T	VTI1A	colorectal																																	uc001lae.3				Dom	yes		10	10q25.3	6934		transcription factor 7-like 2			E					1	Substitution - coding silent(1)		lung(1)	large_intestine(3)|ovary(1)	4						c.(400-402)AGC>AGT		transcription factor 7-like 2 isoform 1							142.0	124.0	129.0					10																	114724335		1568	3582	5150	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114724335C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.402C>T	10.37:g.114724335C>T						TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Silent_p.S134S|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron	p.S134S	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	4	909	+		Breast(234;0.058)|Colorectal(252;0.0615)	134					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	ENST00000355995.4	37	c.402C>T																																																																																					PASS	0.393	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		24	75	24	75	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1256637	1256637	+	Silent	SNP	C	C	T	rs557407716		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:1256637C>T	ENST00000529681.1	+	23	2932	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	MUC5B_ENST00000447027.1_Silent_p.F961F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	958	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.F958F(1)|p.F961F(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAAGCTCTTCGTGGAGGTGA	0.647													c|||	1	0.000199681	0.0	0.0	5008	,	,		15836	0.0		0.0	False		,,,				2504	0.001					uc009ycr.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(4849-4851)TTC>TTT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							41.0	45.0	43.0					11																	1256637		2085	4190	6275	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1256637C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2874C>T	11.37:g.1256637C>T						MUC5B_uc009yct.1_Silent_p.F958F|MUC5B_uc001ltb.2_Silent_p.F961F|MUC5B_uc001lta.2_Silent_p.F626F	p.F1617F	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	39	4977	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	958			VWFD 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.4851C>T	CCDS44515.2																																																																																				PASS	0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		7	4	7	4	---	---	---	---
MRGPRE	116534	broad.mit.edu	37	11	3249629	3249629	+	Missense_Mutation	SNP	C	C	T	rs199984224	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:3249629C>T	ENST00000389832.5	-	2	707	c.401G>A	c.(400-402)cGc>cAc	p.R134H	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.R133H			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R133H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCGTGGGCGGCGGCACGAGTA	0.692													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15712	0.0		0.0	False		,,,				2504	0.0					uc001lxq.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(397-399)CGC>CAC		MAS-related GPR, member E		C	HIS/ARG	6,4328		0,6,2161	13.0	20.0	18.0		398	1.5	0.8	11		18	0,8524		0,0,4262	no	missense	MRGPRE	NM_001039165.2	29	0,6,6423	TT,TC,CC		0.0,0.1384,0.0467	possibly-damaging	133/312	3249629	6,12852	2167	4262	6429	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249629C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.401G>A	11.37:g.3249629C>T	ENSP00000374482:p.Arg134His						p.R133H	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	708	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	133			Cytoplasmic (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.398G>A		.	.	.	.	.	.	.	.	.	.	c	14.71	2.616693	0.46736	0.001384	0.0	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.39787	1.06	3.61	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.324845	0.21946	U	0.066817	T	0.21062	0.0507	N	0.11698	0.16	0.28981	N	0.888653	P	0.38788	0.647	B	0.43838	0.433	T	0.30238	-0.9985	10	0.02654	T	1	-18.8999	5.5363	0.17013	0.0:0.5692:0.0:0.4308	.	133	Q86SM8	MRGRE_HUMAN	H	134;133	ENSP00000393251:R134H	ENSP00000374482:R133H	R	-	2	0	MRGPRE	3206205	0.001000	0.12720	0.848000	0.33437	0.759000	0.43091	-0.513000	0.06305	0.146000	0.19002	0.484000	0.47621	CGC		PASS	0.692	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		3	7	3	7	---	---	---	---
OR51D1	390038	broad.mit.edu	37	11	4661505	4661505	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:4661505T>C	ENST00000357605.2	+	1	561	c.485T>C	c.(484-486)cTg>cCg	p.L162P		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L162P(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATCTGCCCTGACCAGGGGG	0.527																																						uc010qyk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(484-486)CTG>CCG		olfactory receptor, family 51, subfamily D,							220.0	191.0	201.0					11																	4661505		2201	4298	6499	SO:0001583	missense	390038				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4661505T>C	AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.485T>C	11.37:g.4661505T>C	ENSP00000350222:p.Leu162Pro						p.L162P	NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	485	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	162			Helical; Name=4; (Potential).		B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	c.485T>C	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683177	0.29872	.	.	ENSG00000197428	ENST00000357605	T	0.38887	1.11	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35772	N	0.002987	T	0.64681	0.2620	M	0.81614	2.55	0.32054	N	0.596531	D	0.76494	0.999	D	0.77557	0.99	T	0.74417	-0.3672	10	0.87932	D	0	.	12.9235	0.58245	0.0:0.0:0.0:1.0	.	162	Q8NGF3	O51D1_HUMAN	P	162	ENSP00000350222:L162P	ENSP00000350222:L162P	L	+	2	0	OR51D1	4618081	0.135000	0.22499	0.003000	0.11579	0.002000	0.02628	3.066000	0.50002	1.967000	0.57214	0.456000	0.33151	CTG		PASS	0.527	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1	NM_001004751		70	137	70	137	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5968872	5968872	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:5968872C>T	ENST00000329564.6	+	1	303	c.296C>T	c.(295-297)cCt>cTt	p.P99L	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P99H(1)|p.P99L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGCTTCCCTGCCTGCTTC	0.532																																						uc010qzt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(295-297)CCT>CTT		olfactory receptor, family 56, subfamily A,							162.0	154.0	157.0					11																	5968872		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968872C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.296C>T	11.37:g.5968872C>T	ENSP00000331572:p.Pro99Leu						p.P99L	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	296	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	99			Extracellular (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.296C>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	C	4.018	0.000776	0.07819	.	.	ENSG00000184478	ENST00000329564	T	0.02944	4.1	5.13	-0.273	0.12915	GPCR, rhodopsin-like superfamily (1);	2.257440	0.05116	U	0.489706	T	0.03011	0.0089	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46555	-0.9183	10	0.38643	T	0.18	0.1543	4.9574	0.14048	0.3181:0.4619:0.0:0.22	.	99	Q8NH54	O56A3_HUMAN	L	99	ENSP00000331572:P99L	ENSP00000331572:P99L	P	+	2	0	OR56A3	5925448	0.000000	0.05858	0.016000	0.15963	0.148000	0.21650	-3.753000	0.00375	0.022000	0.15160	0.650000	0.86243	CCT		PASS	0.532	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		99	163	99	163	---	---	---	---
OR56B4	196335	broad.mit.edu	37	11	6129459	6129459	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:6129459A>G	ENST00000316529.3	+	1	546	c.451A>G	c.(451-453)Aca>Gca	p.T151A	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T151A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCAAAGCCACAGGGTTCAT	0.502																																						uc010qzx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(451-453)ACA>GCA		olfactory receptor, family 56, subfamily B,							119.0	106.0	111.0					11																	6129459		2201	4296	6497	SO:0001583	missense	196335				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6129459A>G	AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.451A>G	11.37:g.6129459A>G	ENSP00000321196:p.Thr151Ala						p.T151A	NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	451	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	151			Helical; Name=4; (Potential).		Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	c.451A>G	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	A	1.987	-0.432759	0.04669	.	.	ENSG00000180919	ENST00000316529	T	0.35973	1.28	4.06	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.443771	0.16333	N	0.219028	T	0.13713	0.0332	N	0.01438	-0.865	0.09310	N	1	B	0.20052	0.041	B	0.28991	0.097	T	0.26395	-1.0104	10	0.28530	T	0.3	.	5.9579	0.19283	0.6786:0.0:0.3214:0.0	.	151	Q8NH76	O56B4_HUMAN	A	151	ENSP00000321196:T151A	ENSP00000321196:T151A	T	+	1	0	OR56B4	6086035	0.000000	0.05858	0.375000	0.26029	0.070000	0.16714	1.082000	0.30803	0.689000	0.31550	0.454000	0.30748	ACA		PASS	0.502	OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181		67	108	67	108	---	---	---	---
ACP2	53	broad.mit.edu	37	11	47267352	47267352	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:47267352G>C	ENST00000256997.3	-	4	447	c.331C>G	c.(331-333)Ctc>Gtc	p.L111V	ACP2_ENST00000530453.1_Missense_Mutation_p.L111V|ACP2_ENST00000533929.1_Missense_Mutation_p.L83V|ACP2_ENST00000444355.2_Missense_Mutation_p.L111V|ACP2_ENST00000527256.1_Missense_Mutation_p.L79V|ACP2_ENST00000529444.1_Missense_Mutation_p.L111V|ACP2_ENST00000537863.1_5'UTR|ACP2_ENST00000525230.1_5'Flank	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	111					dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)	p.L111V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GCACTCATGAGAGTCCGGTCA	0.542																																					Melanoma(90;262 1440 11488 44828 48531)	uc001nei.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(331-333)CTC>GTC		acid phosphatase 2, lysosomal isoform 1							92.0	79.0	83.0					11																	47267352		2201	4298	6499	SO:0001583	missense	53					integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity	g.chr11:47267352G>C	X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.331C>G	11.37:g.47267352G>C	ENSP00000256997:p.Leu111Val					ACP2_uc010rhe.1_Missense_Mutation_p.L83V|ACP2_uc009ylj.2_Missense_Mutation_p.L39V|ACP2_uc010rhf.1_Missense_Mutation_p.L79V|ACP2_uc010rhg.1_Missense_Mutation_p.L111V|ACP2_uc010rhh.1_5'UTR|ACP2_uc010rhi.1_5'UTR|ACP2_uc009ylk.2_Missense_Mutation_p.L111V|ACP2_uc010rhj.1_Missense_Mutation_p.L111V|NR1H3_uc009yll.1_5'Flank|NR1H3_uc010rhk.1_5'Flank	p.L111V	NM_001610	NP_001601	P11117	PPAL_HUMAN			4	448	-			111			Lumenal (Potential).		E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	ENST00000256997.3	37	c.331C>G	CCDS7928.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070171	0.76301	.	.	ENSG00000134575	ENST00000256997;ENST00000529444;ENST00000527256;ENST00000540414;ENST00000533929;ENST00000529663;ENST00000530453;ENST00000444355	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.81112	2.525	0.80722	D	1	D;P;D;D;D;D	0.76494	0.992;0.902;0.999;0.998;0.999;0.999	P;D;D;D;D;D	0.79108	0.875;0.955;0.992;0.988;0.987;0.992	T	0.59621	-0.7420	10	0.87932	D	0	.	11.7003	0.51567	0.1361:0.0:0.8639:0.0	.	111;111;79;83;101;111	E9PCI1;E9PHY0;B7Z7D2;E9PQY3;F5H1S6;P11117	.;.;.;.;.;PPAL_HUMAN	V	111;111;79;101;83;111;111;111	ENSP00000256997:L111V;ENSP00000436658:L111V;ENSP00000432205:L79V;ENSP00000432439:L83V;ENSP00000436487:L111V;ENSP00000434205:L111V;ENSP00000414911:L111V	ENSP00000256997:L111V	L	-	1	0	ACP2	47223928	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	5.906000	0.69900	2.837000	0.97791	0.655000	0.94253	CTC		PASS	0.542	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392022.2	NM_001610		38	75	38	75	---	---	---	---
FOLH1	2346	broad.mit.edu	37	11	49179593	49179593	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:49179593C>T	ENST00000256999.2	-	14	1703	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	FOLH1_ENST00000356696.3_Silent_p.L481L|FOLH1_ENST00000533034.1_Silent_p.L466L|FOLH1_ENST00000343844.4_Silent_p.L173L|FOLH1_ENST00000340334.7_Silent_p.L466L	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	481	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.L481L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CAGGGCTTTTCAGCTACACAA	0.353																																						uc001ngy.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1441-1443)CTG>CTA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						40.0	41.0	40.0					11																	49179593		2200	4286	6486	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49179593C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1443G>A	11.37:g.49179593C>T						FOLH1_uc001ngz.2_Silent_p.L481L|FOLH1_uc009yly.2_Silent_p.L466L|FOLH1_uc009ylz.2_Silent_p.L466L|FOLH1_uc009yma.2_Silent_p.L173L	p.L481L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			14	1704	-			481			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1443G>A	CCDS7946.1																																																																																				PASS	0.353	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		33	102	33	102	---	---	---	---
OR4P4	81300	broad.mit.edu	37	11	55406751	55406751	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:55406751G>A	ENST00000314612.2	+	1	918	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L306L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398																																						uc010rij.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(916-918)CTG>CTA		olfactory receptor, family 4, subfamily P,							117.0	116.0	116.0					11																	55406751		2177	3987	6164	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406751G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.918G>A	11.37:g.55406751G>A							p.L306L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	918	+			306			Cytoplasmic (Potential).			Silent	SNP	ENST00000314612.2	37	c.918G>A	CCDS31504.1																																																																																				PASS	0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		27	79	27	79	---	---	---	---
OR8I2	120586	broad.mit.edu	37	11	55861472	55861472	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:55861472C>A	ENST00000302124.2	+	1	720	c.689C>A	c.(688-690)gCa>gAa	p.A230E		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A230E(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCCAGTCAGCAGCAGGCAGG	0.468																																						uc010rix.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(688-690)GCA>GAA		olfactory receptor, family 8, subfamily I,							148.0	133.0	138.0					11																	55861472		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861472C>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.689C>A	11.37:g.55861472C>A	ENSP00000303864:p.Ala230Glu						p.A230E	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	689	+	Esophageal squamous(21;0.00693)		230			Cytoplasmic (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.689C>A	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	9.807	1.182048	0.21787	.	.	ENSG00000172154	ENST00000302124	T	0.00107	8.72	4.33	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.410674	0.17770	U	0.162617	T	0.00241	0.0007	M	0.77486	2.375	0.09310	N	1	B	0.22909	0.077	B	0.28553	0.091	T	0.22730	-1.0208	10	0.66056	D	0.02	-0.4958	11.6945	0.51536	0.0:0.9111:0.0:0.0889	.	230	Q8N0Y5	OR8I2_HUMAN	E	230	ENSP00000303864:A230E	ENSP00000303864:A230E	A	+	2	0	OR8I2	55618048	0.000000	0.05858	0.014000	0.15608	0.555000	0.35460	0.408000	0.21065	0.934000	0.37316	0.440000	0.28878	GCA		PASS	0.468	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		46	148	46	148	---	---	---	---
OR5T1	390155	broad.mit.edu	37	11	56043676	56043676	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:56043676C>G	ENST00000313033.2	+	1	648	c.562C>G	c.(562-564)Cat>Gat	p.H188D		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H188D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAAATTAGGCATGTCTTTTG	0.408																																						uc001nio.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(562-564)CAT>GAT		olfactory receptor, family 5, subfamily T,							247.0	230.0	236.0					11																	56043676		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043676C>G	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.562C>G	11.37:g.56043676C>G	ENSP00000323612:p.His188Asp						p.H188D	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	562	+	Esophageal squamous(21;0.00448)		188			Extracellular (Potential).		B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.562C>G	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450846	0.43531	.	.	ENSG00000181698	ENST00000313033	T	0.00174	8.62	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000077	T	0.00666	0.0022	M	0.90425	3.115	0.09310	N	1	D	0.67145	0.996	D	0.74674	0.984	T	0.22487	-1.0215	10	0.87932	D	0	.	14.0573	0.64776	0.0:1.0:0.0:0.0	.	188	Q8NG75	OR5T1_HUMAN	D	188	ENSP00000323612:H188D	ENSP00000323612:H188D	H	+	1	0	OR5T1	55800252	0.962000	0.33011	0.031000	0.17742	0.099000	0.18886	2.611000	0.46334	1.943000	0.56356	0.465000	0.42564	CAT		PASS	0.408	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		106	317	106	317	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128311	56128311	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:56128311A>G	ENST00000303039.3	+	1	621	c.589A>G	c.(589-591)Aca>Gca	p.T197A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T197A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CTTACCAGAAACAGTTGTCTT	0.294																																						uc010rjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(589-591)ACA>GCA		olfactory receptor, family 8, subfamily J,							162.0	151.0	154.0					11																	56128311		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128311A>G	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.589A>G	11.37:g.56128311A>G	ENSP00000304060:p.Thr197Ala						p.T197A	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	589	+	Esophageal squamous(21;0.00448)		197			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.589A>G	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	A	9.628	1.135726	0.21123	.	.	ENSG00000172487	ENST00000303039	T	0.00058	8.79	3.91	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00144	0.0004	N	0.21617	0.685	0.09310	N	1	P	0.39216	0.664	P	0.47430	0.547	T	0.28713	-1.0035	10	0.66056	D	0.02	.	3.2972	0.06970	0.6843:0.0:0.1129:0.2028	.	197	Q8NGP2	OR8J1_HUMAN	A	197	ENSP00000304060:T197A	ENSP00000304060:T197A	T	+	1	0	OR8J1	55884887	0.000000	0.05858	0.730000	0.30809	0.142000	0.21351	-0.151000	0.10175	0.678000	0.31325	0.448000	0.29417	ACA		PASS	0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		40	143	40	143	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59283310	59283310	+	Missense_Mutation	SNP	G	G	C	rs12794170		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:59283310G>C	ENST00000329328.3	+	1	925	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E309Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						AGGACAATCAGAAAGGATTTT	0.383																																						uc010rkv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(925-927)GAA>CAA		olfactory receptor, family 4, subfamily D,							41.0	43.0	43.0					11																	59283310		2198	4293	6491	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59283310G>C	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.925G>C	11.37:g.59283310G>C	ENSP00000328563:p.Glu309Gln						p.E309Q	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	925	+			309			Cytoplasmic (Potential).		Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.925G>C	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	G	7.389	0.630325	0.14257	.	.	ENSG00000172742	ENST00000329328	T	0.15952	2.38	3.16	1.0	0.19881	.	0.840351	0.09851	N	0.747552	T	0.10809	0.0264	L	0.34521	1.04	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.34527	-0.9825	10	0.28530	T	0.3	.	3.1791	0.06578	0.272:0.2282:0.4998:0.0	rs12794170;rs12794170	309	Q8NGE8	OR4D9_HUMAN	Q	309	ENSP00000328563:E309Q	ENSP00000328563:E309Q	E	+	1	0	OR4D9	59039886	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.085000	0.14912	0.637000	0.30526	0.563000	0.77884	GAA		PASS	0.383	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		22	65	22	65	---	---	---	---
TMEM132A	54972	broad.mit.edu	37	11	60699238	60699238	+	Missense_Mutation	SNP	G	G	T	rs567659241		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:60699238G>T	ENST00000453848.2	+	6	1252	c.1094G>T	c.(1093-1095)cGc>cTc	p.R365L	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R366L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	365						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R366L(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGGTCACTCGCCCCGTCACG	0.587																																						uc001nqj.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1093-1095)CGC>CTC		transmembrane protein 132A isoform b							111.0	108.0	109.0					11																	60699238		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60699238G>T	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.1094G>T	11.37:g.60699238G>T	ENSP00000405823:p.Arg365Leu					TMEM132A_uc001nqi.2_Missense_Mutation_p.R366L|TMEM132A_uc001nqk.2_Missense_Mutation_p.R378L|TMEM132A_uc001nql.1_Missense_Mutation_p.R378L|TMEM132A_uc001nqm.2_5'Flank	p.R365L	NM_178031	NP_821174	Q24JP5	T132A_HUMAN			6	1287	+			365			Extracellular (Potential).		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.1094G>T	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596099	0.86953	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.18657	2.2;2.2	4.79	4.79	0.61399	.	0.000000	0.56097	D	0.000021	T	0.45796	0.1360	M	0.64404	1.975	0.46981	D	0.999274	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.91635	0.999;0.994;0.976;0.998	T	0.46484	-0.9188	10	0.87932	D	0	.	17.8578	0.88771	0.0:0.0:1.0:0.0	.	354;116;365;366	Q24JP5-3;Q24JP5-4;Q24JP5;Q24JP5-2	.;.;T132A_HUMAN;.	L	116;365;366	ENSP00000405823:R365L;ENSP00000005286:R366L	ENSP00000005286:R366L	R	+	2	0	TMEM132A	60455814	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.335000	0.72949	2.393000	0.81446	0.455000	0.32223	CGC		PASS	0.587	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		62	111	62	111	---	---	---	---
ATG16L2	89849	broad.mit.edu	37	11	72536436	72536436	+	Silent	SNP	C	C	G	rs552814779		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:72536436C>G	ENST00000321297.5	+	10	1224	c.1086C>G	c.(1084-1086)ctC>ctG	p.L362L	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	362					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L362L(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TGATCCACCTCTGGAATGTTG	0.602																																						uc001otd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1084-1086)CTC>CTG		ATG16 autophagy related 16-like 2							72.0	70.0	70.0					11																	72536436		2200	4293	6493	SO:0001819	synonymous_variant	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72536436C>G	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1086C>G	11.37:g.72536436C>G						ATG16L2_uc001ote.2_Silent_p.L256L|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Silent_p.L117L|ATG16L2_uc001otg.2_Silent_p.L96L|ATG16L2_uc009ytk.2_Silent_p.L117L	p.L362L	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		10	1126	+			362			WD 1.		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Silent	SNP	ENST00000321297.5	37	c.1086C>G	CCDS31634.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074730	0.20227	.	.	ENSG00000168010	ENST00000535830;ENST00000540222	T;T	0.60424	0.19;0.19	5.16	4.23	0.50019	.	0.170666	0.36519	N	0.002542	T	0.65873	0.2733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65772	-0.6087	7	0.44086	T	0.13	.	13.0435	0.58913	0.0:0.8204:0.1796:0.0	.	.	.	.	V	200;140	ENSP00000438474:L200V;ENSP00000441747:L140V	ENSP00000438474:L200V	L	+	1	2	ATG16L2	72214084	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.315000	0.33608	1.147000	0.42369	0.561000	0.74099	CTG		PASS	0.602	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		40	194	40	194	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76371022	76371022	+	Missense_Mutation	SNP	C	C	G	rs564090585		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:76371022C>G	ENST00000407242.2	-	3	1857	c.1615G>C	c.(1615-1617)Gag>Cag	p.E539Q	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.E539Q|LRRC32_ENST00000404995.1_Missense_Mutation_p.E539Q	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	539					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.E539Q(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCCAGCACCTCCAGTGACACA	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18948	0.0		0.0	False		,,,				2504	0.0					uc001oxq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1615-1617)GAG>CAG		leucine rich repeat containing 32 precursor							48.0	46.0	47.0					11																	76371022		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371022C>G	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1615G>C	11.37:g.76371022C>G	ENSP00000384126:p.Glu539Gln					LRRC32_uc001oxr.3_Missense_Mutation_p.E539Q|LRRC32_uc010rsf.1_Missense_Mutation_p.E525Q	p.E539Q	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	1858	-			539			LRR 20.|Extracellular (Potential).		Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.1615G>C	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533731	0.64972	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	T;T;T	0.57595	0.39;0.39;0.39	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59484	-0.7446	10	0.25751	T	0.34	.	16.8423	0.85972	0.0:1.0:0.0:0.0	.	539	Q14392	LRC32_HUMAN	Q	539	ENSP00000260061:E539Q;ENSP00000384126:E539Q;ENSP00000385766:E539Q	ENSP00000260061:E539Q	E	-	1	0	LRRC32	76048670	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.420000	0.80191	2.197000	0.70478	0.491000	0.48974	GAG		PASS	0.642	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		13	136	13	136	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911877	88911877	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:88911877G>A	ENST00000263321.5	+	1	1258	c.756G>A	c.(754-756)atG>atA	p.M252I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	252					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.M252I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	ATGAGTACATGGGAGGTCAGC	0.453																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(754-756)ATG>ATA		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						120.0	101.0	108.0					11																	88911877		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911877G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.756G>A	11.37:g.88911877G>A	ENSP00000263321:p.Met252Ile						p.M252I	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	838	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	252			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.756G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631252	0.46944	.	.	ENSG00000077498	ENST00000263321	D	0.98747	-5.11	6.07	4.14	0.48551	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.268616	0.52532	N	0.000069	D	0.96959	0.9007	L	0.58428	1.81	0.47994	D	0.999566	B	0.10296	0.003	B	0.15052	0.012	D	0.95951	0.8954	9	.	.	.	.	13.5822	0.61909	0.0:0.1197:0.7555:0.1248	.	252	P14679	TYRO_HUMAN	I	252	ENSP00000263321:M252I	.	M	+	3	0	TYR	88551525	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.222000	0.65277	1.565000	0.49641	0.655000	0.94253	ATG		PASS	0.453	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		37	89	37	89	---	---	---	---
CEP164	22897	broad.mit.edu	37	11	117267306	117267306	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:117267306A>G	ENST00000278935.3	+	26	3404	c.3257A>G	c.(3256-3258)aAg>aGg	p.K1086R	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1086					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K1086R(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCCCAGAGCAAGGAGGACTTA	0.493																																						uc001prc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3256-3258)AAG>AGG		centrosomal protein 164kDa							148.0	137.0	141.0					11																	117267306		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117267306A>G	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3257A>G	11.37:g.117267306A>G	ENSP00000278935:p.Lys1086Arg					CEP164_uc001prb.2_Missense_Mutation_p.K1089R|CEP164_uc001prf.2_Intron|CEP164_uc009yzp.1_RNA|CEP164_uc001prg.1_Missense_Mutation_p.K519R	p.K1086R	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	26	3404	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1086					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3257A>G	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	A	8.167	0.790848	0.16258	.	.	ENSG00000110274	ENST00000278935	T	0.42513	0.97	4.3	3.15	0.36227	.	0.717894	0.12596	N	0.455123	T	0.36220	0.0959	N	0.22421	0.69	0.19575	N	0.999962	D;P;D	0.54964	0.969;0.939;0.965	P;P;P	0.50352	0.637;0.541;0.638	T	0.09684	-1.0663	10	0.40728	T	0.16	-32.0361	8.6448	0.33998	0.6193:0.3807:0.0:0.0	.	860;1086;1089	Q9NTH6;Q9UPV0;Q9UPV0-2	.;CE164_HUMAN;.	R	1086	ENSP00000278935:K1086R	ENSP00000278935:K1086R	K	+	2	0	CEP164	116772516	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	1.546000	0.36179	0.773000	0.33404	0.482000	0.46254	AAG		PASS	0.493	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		65	89	65	89	---	---	---	---
SLC37A2	219855	broad.mit.edu	37	11	124954150	124954150	+	Missense_Mutation	SNP	G	G	A	rs200568702		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:124954150G>A	ENST00000403796.2	+	12	1361	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	SLC37A2_ENST00000525837.1_Intron|SLC37A2_ENST00000407458.1_Missense_Mutation_p.V354I|SLC37A2_ENST00000298280.5_Intron|SLC37A2_ENST00000308074.4_Missense_Mutation_p.V354I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	354					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V354I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GGCAGGGCTCGTCTCTGACTA	0.622																																					Melanoma(11;373 620 21213 26083 47768)	uc001qbn.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1060-1062)GTC>ATC		solute carrier family 37 (glycerol-3-phosphate							146.0	107.0	120.0					11																	124954150		2201	4299	6500	SO:0001583	missense	219855				carbohydrate transport|transmembrane transport	integral to membrane		g.chr11:124954150G>A	AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"""Solute carriers"""	20644	protein-coding gene	gene with protein product			"""solute carrier family 37 (glycerol-3-phosphate transporter), member 2"""				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1060G>A	11.37:g.124954150G>A	ENSP00000384407:p.Val354Ile					SLC37A2_uc010sau.1_Missense_Mutation_p.V354I|SLC37A2_uc010sav.1_Intron|SLC37A2_uc001qbp.2_Intron	p.V354I	NM_001145290	NP_001138762	Q8TED4	SPX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)	12	1311	+	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)	354			Helical; (Potential).		A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	ENST00000403796.2	37	c.1060G>A	CCDS44757.1	.	.	.	.	.	.	.	.	.	.	G	2.640	-0.284405	0.05605	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.55052	0.54;0.54;0.54	4.83	2.52	0.30459	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.164045	0.53938	N	0.000051	T	0.19644	0.0472	N	0.01809	-0.71	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.26087	-1.0113	10	0.02654	T	1	-22.8847	9.1448	0.36925	0.7813:0.0:0.2187:0.0	.	354;354	Q8TED4-2;Q8TED4	.;SPX2_HUMAN	I	354	ENSP00000384407:V354I;ENSP00000385126:V354I;ENSP00000311833:V354I	ENSP00000311833:V354I	V	+	1	0	SLC37A2	124459360	0.980000	0.34600	1.000000	0.80357	0.859000	0.49053	1.007000	0.29860	0.345000	0.23873	-0.415000	0.06103	GTC		PASS	0.622	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386837.1	XM_166184		12	14	12	14	---	---	---	---
OPCML	4978	broad.mit.edu	37	11	132307159	132307159	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:132307159A>C	ENST00000331898.7	-	4	1199	c.621T>G	c.(619-621)gaT>gaG	p.D207E	OPCML_ENST00000541867.1_Missense_Mutation_p.D207E|OPCML_ENST00000374778.4_Missense_Mutation_p.D166E|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.D200E	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.D200E(1)|p.D207E(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCGCAGCGACATCGTTCAACG	0.557																																						uc001qgs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(619-621)GAT>GAG		opioid binding protein/cell adhesion							125.0	109.0	114.0					11																	132307159		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307159A>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.621T>G	11.37:g.132307159A>C	ENSP00000330862:p.Asp207Glu					OPCML_uc001qgu.2_Missense_Mutation_p.D200E|OPCML_uc010sck.1_Missense_Mutation_p.D207E|OPCML_uc001qgt.2_Missense_Mutation_p.D206E|OPCML_uc010scl.1_Missense_Mutation_p.D166E	p.D207E	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	671	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	207			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.621T>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	A	14.36	2.512857	0.44660	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.82	-6.66	0.01789	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.000000	0.85682	D	0.000000	T	0.58652	0.2137	N	0.26042	0.785	0.44937	D	0.997951	P;P;P;P	0.49358	0.923;0.923;0.812;0.812	P;P;P;P	0.58266	0.836;0.836;0.759;0.759	T	0.64567	-0.6377	10	0.34782	T	0.22	-25.9119	17.8791	0.88834	0.4232:0.0:0.5768:0.0	.	207;200;206;207	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	E	207;200;166;174;207	ENSP00000330862:D207E;ENSP00000434750:D200E;ENSP00000363910:D166E;ENSP00000445496:D207E	ENSP00000330862:D207E	D	-	3	2	OPCML	131812369	0.053000	0.20554	0.336000	0.25522	0.032000	0.12392	-0.694000	0.05115	-1.100000	0.03030	-1.098000	0.02139	GAT		PASS	0.557	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		38	83	38	83	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	977342	977342	+	Intron	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:977342A>T	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.Q902L|WNK1_ENST00000537687.1_Missense_Mutation_p.Q817L|WNK1_ENST00000574564.1_Missense_Mutation_p.Q116L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.Q817L(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGTGAGATACAGGTCCATCCT	0.463																																					Colon(19;451 567 6672 12618 28860)	uc001qiq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CAG>CTG		hereditary sensory neuropathy, type II							68.0	68.0	68.0					12																	977342		1931	4131	6062	SO:0001627	intron_variant	378465							g.chr12:977342A>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-3089A>T	12.37:g.977342A>T						WNK1_uc001qio.3_Intron|WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.Q116L	NM_213655	NP_998820			OV - Ovarian serous cystadenocarcinoma(31;0.000967)|BRCA - Breast invasive adenocarcinoma(9;0.0178)		1	473	+	all_cancers(10;0.0107)|all_epithelial(11;0.0151)|Ovarian(42;0.0512)|all_lung(10;0.0521)|Lung NSC(10;0.0987)							A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.347A>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089003	0.36855	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.15256	2.44;2.44	5.15	3.98	0.46160	.	.	.	.	.	T	0.27169	0.0666	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.55923	0.787	T	0.02026	-1.1227	8	0.21540	T	0.41	.	12.221	0.54433	0.8574:0.1426:0.0:0.0	.	902	F5H2M7	.	L	817;902	ENSP00000444465:Q817L;ENSP00000433548:Q902L	ENSP00000433548:Q902L	Q	+	2	0	WNK1	847603	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.203000	0.58453	0.949000	0.37715	0.383000	0.25322	CAG		PASS	0.463	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		14	42	14	42	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3662847	3662847	+	Missense_Mutation	SNP	G	G	C	rs17852025		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:3662847G>C	ENST00000382622.3	+	4	838	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.E141Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	150	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			E -> Q (in Ref. 3; AAH22458). {ECO:0000305}.	histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.E150Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGACTACTCAGAGAAGATCAT	0.468																																						uc001qmf.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(448-450)GAG>CAG		HMT1 hnRNP methyltransferase-like 4							124.0	111.0	115.0					12																	3662847		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3662847G>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.448G>C	12.37:g.3662847G>C	ENSP00000372067:p.Glu150Gln					PRMT8_uc009zed.2_Missense_Mutation_p.E141Q|PRMT8_uc009zee.1_RNA	p.E150Q	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		4	815	+			150	E -> Q (in Ref. 3; AAH22458).				B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.448G>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	5.914	0.352714	0.11182	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.21361	2.01;2.01	5.47	4.58	0.56647	.	0.046983	0.85682	D	0.000000	T	0.14356	0.0347	N	0.20304	0.555	0.49299	D	0.999773	B;B	0.15719	0.007;0.014	B;B	0.15052	0.01;0.012	T	0.04961	-1.0915	10	0.35671	T	0.21	.	12.3381	0.55079	0.0819:0.0:0.9181:0.0	rs17852025	141;150	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	Q	141;150	ENSP00000414507:E141Q;ENSP00000372067:E150Q	ENSP00000372067:E150Q	E	+	1	0	PRMT8	3533108	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	7.823000	0.86660	1.312000	0.45043	-0.122000	0.15005	GAG		PASS	0.468	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		47	135	47	135	---	---	---	---
ING4	51147	broad.mit.edu	37	12	6760378	6760378	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:6760378C>G	ENST00000396807.4	-	8	771	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q	ING4_ENST00000486287.1_5'UTR|ING4_ENST00000446105.2_Missense_Mutation_p.E241Q|ING4_ENST00000444704.2_Missense_Mutation_p.E221Q|ING4_ENST00000423703.2_3'UTR|ING4_ENST00000341550.4_Missense_Mutation_p.E244Q|ING4_ENST00000412586.2_Missense_Mutation_p.E242Q	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	245					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E244Q(2)		central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TTCTTCCGTTCTTGGGAGCAG	0.522																																						uc001qpw.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(733-735)GAA>CAA		inhibitor of growth family, member 4 isoform 9							99.0	90.0	93.0					12																	6760378		2203	4300	6503	SO:0001583	missense	51147				apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding	g.chr12:6760378C>G	AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.733G>C	12.37:g.6760378C>G	ENSP00000380024:p.Glu245Gln					ING4_uc001qpv.3_Missense_Mutation_p.E244Q|ING4_uc001qpy.3_Missense_Mutation_p.E241Q|ING4_uc001qpx.3_Missense_Mutation_p.E242Q|ING4_uc009zes.2_3'UTR|ING4_uc009zet.2_Missense_Mutation_p.E221Q|ING4_uc009zeu.2_RNA|ING4_uc009zev.2_RNA	p.E245Q	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN			8	774	-			245			PHD-type.		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	ENST00000396807.4	37	c.733G>C	CCDS44813.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020768	0.75275	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000412586	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	4.93	4.93	0.64822	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.062471	0.64402	D	0.000005	D	0.83004	0.5160	N	0.17248	0.465	0.58432	D	0.999992	D;B;B;P;P	0.53312	0.959;0.435;0.057;0.881;0.49	P;B;B;P;B	0.54100	0.636;0.102;0.062;0.742;0.165	D	0.84718	0.0738	10	0.48119	T	0.1	-4.0752	16.8818	0.86065	0.0:1.0:0.0:0.0	.	221;241;242;245;244	Q9UNL4-3;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;ING4_HUMAN;.	Q	244;245;241;221;242	ENSP00000343396:E244Q;ENSP00000380024:E245Q;ENSP00000415903:E241Q;ENSP00000397343:E221Q;ENSP00000412705:E242Q	ENSP00000343396:E244Q	E	-	1	0	ING4	6630639	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.445000	0.73456	2.556000	0.86216	0.561000	0.74099	GAA		PASS	0.522	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280467.2	NM_198287		22	49	22	49	---	---	---	---
LINC00987	100499405	broad.mit.edu	37	12	9392068	9392068	+	lincRNA	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:9392068A>G	ENST00000427111.3	+	0	0					NR_036466.1				long intergenic non-protein coding RNA 987																		TGGCCTTTTTAACCATCTCAT	0.303																																						hsa-mir-1244-3|MI0015975																			0					0															66.0	60.0	61.0					12																	9392068		1567	3575	5142			100302285							g.chr12:9392068A>G	AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9392068A>G						uc001qvm.1_5'Flank										-									RNA	SNP	ENST00000427111.3	37	c.80A>G																																																																																					PASS	0.303	LINC00987-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399347.1			37	105	37	105	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20787990	20787990	+	Splice_Site	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:20787990G>C	ENST00000359062.3	+	8	2041	c.2001G>C	c.(1999-2001)ctG>ctC	p.L667L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	667					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L667L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TGATGTTTCTGGTAGTCCCAT	0.458																																						uc001reh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1999-2001)CTG>CTC		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						100.0	84.0	90.0					12																	20787990		2203	4300	6503	SO:0001630	splice_region_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20787990G>C		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2001+1G>C	12.37:g.20787990G>C							p.L667L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			8	2023	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	667					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2001G>C	CCDS31754.1																																																																																				PASS	0.458	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Silent	28	57	28	57	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31249833	31249833	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:31249833G>A	ENST00000407793.2	+	17	1922	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.L531L|DDX11_ENST00000545668.1_Silent_p.L557L|DDX11_ENST00000350437.4_Silent_p.L557L|DDX11_ENST00000542838.1_Silent_p.L557L|DDX11_ENST00000539673.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	557					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.L557L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGCACCCTGCGACCAGCTT	0.617										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - coding silent(2)		lung(2)	breast(3)	3						c.(1669-1671)CTG>CTA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							51.0	50.0	51.0					12																	31249833		2203	4300	6503	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31249833G>A	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1671G>A	12.37:g.31249833G>A		Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Silent_p.L557L|DDX11_uc001rjs.1_Silent_p.L557L|DDX11_uc001rju.1_Silent_p.L235L|DDX11_uc001rjv.1_Silent_p.L557L|DDX11_uc001rjw.1_Silent_p.L531L|DDX11_uc009zjn.1_RNA	p.L557L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			17	1922	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		557					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.1671G>A	CCDS44856.1																																																																																				PASS	0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		16	37	16	37	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31255916	31255916	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:31255916G>C	ENST00000407793.2	+	24	2670	c.2419G>C	c.(2419-2421)Gag>Cag	p.E807Q	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.E781Q|DDX11_ENST00000545668.1_Missense_Mutation_p.E807Q|DDX11_ENST00000350437.4_Missense_Mutation_p.E757Q|DDX11_ENST00000542838.1_Missense_Mutation_p.E807Q	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	807					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.E807Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGTCTGCAGAGCTGCAGGA	0.607										Multiple Myeloma(12;0.14)																												uc001rjt.1																			2	Substitution - Missense(2)		lung(2)	breast(3)	3						c.(2419-2421)GAG>CAG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11							67.0	65.0	65.0					12																	31255916		2203	4297	6500	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31255916G>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.2419G>C	12.37:g.31255916G>C	ENSP00000384703:p.Glu807Gln	Multiple Myeloma(12;0.14)				DDX11_uc001rjr.1_Missense_Mutation_p.E807Q|DDX11_uc001rjs.1_Missense_Mutation_p.E757Q|DDX11_uc001rju.1_Missense_Mutation_p.E479Q|DDX11_uc001rjv.1_Missense_Mutation_p.E807Q|DDX11_uc001rjw.1_Missense_Mutation_p.E781Q|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_Intron	p.E807Q	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN			24	2670	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		807					Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.2419G>C	CCDS44856.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.52|18.52	3.641115|3.641115	0.67244|0.67244	.|.	.|.	ENSG00000013573|ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437|ENST00000539702	T;D;T;D;D|.	0.92199|.	-0.58;-2.99;-0.58;-2.99;-2.99|.	3.26|3.26	3.26|3.26	0.37387|0.37387	Helicase, ATP-dependent, c2 type (1);|.	0.101773|.	0.64402|.	D|.	0.000003|.	T|T	0.60235|0.60235	0.2253|0.2253	L|L	0.52206|0.52206	1.635|1.635	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.72625|.	0.963;0.978;0.949;0.963|.	T|T	0.58640|0.58640	-0.7601|-0.7601	10|5	0.41790|.	T|.	0.15|.	.|.	12.0736|12.0736	0.53630|0.53630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	781;807;757;807|.	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2|.	.;DDX11_HUMAN;.;.|.	Q|H	807;807;532;781;807;757|72	ENSP00000443426:E807Q;ENSP00000384703:E807Q;ENSP00000228264:E781Q;ENSP00000440402:E807Q;ENSP00000309965:E757Q|.	ENSP00000228264:E781Q|.	E|Q	+|+	1|3	0|2	DDX11|DDX11	31147183|31147183	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.874000|0.874000	0.50279|0.50279	8.593000|8.593000	0.90832|0.90832	1.651000|1.651000	0.50673|0.50673	0.505000|0.505000	0.49811|0.49811	GAG|CAG		PASS	0.607	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		18	84	18	84	---	---	---	---
OR8S1	341568	broad.mit.edu	37	12	48919954	48919954	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:48919954G>C	ENST00000310194.1	+	1	540	c.540G>C	c.(538-540)gaG>gaC	p.E180D	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E180D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						ACAGCTATGAGATGCCATCCC	0.512																																						uc010slu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(538-540)GAG>GAC		olfactory receptor, family 8, subfamily S,							194.0	166.0	175.0					12																	48919954		2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919954G>C		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.540G>C	12.37:g.48919954G>C	ENSP00000310632:p.Glu180Asp						p.E180D	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	540	+			180			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.540G>C	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384039	0.25031	.	.	ENSG00000197376	ENST00000310194	T	0.00137	8.68	5.03	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41500	D	0.000865	T	0.00178	0.0005	N	0.20881	0.62	0.19775	N	0.999954	D	0.76494	0.999	D	0.77557	0.99	T	0.43718	-0.9374	10	0.02654	T	1	-46.2261	6.6964	0.23201	0.1084:0.1395:0.7521:0.0	.	180	Q8NH09	OR8S1_HUMAN	D	180	ENSP00000310632:E180D	ENSP00000310632:E180D	E	+	3	2	OR8S1	47206221	0.000000	0.05858	0.924000	0.36721	0.992000	0.81027	-2.650000	0.00858	0.246000	0.21394	0.655000	0.94253	GAG		PASS	0.512	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			43	107	43	107	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49425868	49425868	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:49425868T>C	ENST00000301067.7	-	39	12619	c.12620A>G	c.(12619-12621)aAa>aGa	p.K4207R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4207	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K4207R(1)|p.K3937R(1)									CTGTGGGTTTTTGGCCAGGAC	0.607																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(12619-12621)AAA>AGA		myeloid/lymphoid or mixed-lineage leukemia 2							43.0	44.0	44.0					12																	49425868		2073	4217	6290	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425868T>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.12620A>G	12.37:g.49425868T>C	ENSP00000301067:p.Lys4207Arg	HNSCC(34;0.089)					p.K4207R	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	12620	-			4207			Gln-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.12620A>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	9.379	1.072570	0.20147	.	.	ENSG00000167548	ENST00000301067	T	0.80566	-1.39	4.89	3.76	0.43208	.	0.000000	0.38959	N	0.001517	T	0.62060	0.2397	N	0.08118	0	0.20926	N	0.999821	B	0.13145	0.007	B	0.10450	0.005	T	0.58387	-0.7645	10	0.87932	D	0	.	9.5656	0.39396	0.0:0.0864:0.0:0.9136	.	4207	O14686	MLL2_HUMAN	R	4207	ENSP00000301067:K4207R	ENSP00000301067:K4207R	K	-	2	0	MLL2	47712135	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.198000	0.42705	2.151000	0.67156	0.533000	0.62120	AAA		PASS	0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			15	57	15	57	---	---	---	---
SOAT2	8435	broad.mit.edu	37	12	53499708	53499708	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:53499708A>C	ENST00000301466.3	+	5	413	c.353A>C	c.(352-354)cAg>cCg	p.Q118P		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	118					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)	p.Q118P(1)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ATGGAGGTGCAGCATTTCCGC	0.557																																						uc001sbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)CAG>CCG		acyl-CoA:cholesterol acyltransferase 2							200.0	135.0	157.0					12																	53499708		2203	4300	6503	SO:0001583	missense	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53499708A>C	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.353A>C	12.37:g.53499708A>C	ENSP00000301466:p.Gln118Pro					SOAT2_uc009zms.2_RNA	p.Q118P	NM_003578	NP_003569	O75908	SOAT2_HUMAN			5	441	+			118					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	c.353A>C	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353948	0.41700	.	.	ENSG00000167780	ENST00000551896;ENST00000301466	T;T	0.18657	2.2;2.2	5.35	4.18	0.49190	.	0.401401	0.29660	N	0.011524	T	0.17704	0.0425	L	0.37561	1.115	0.36378	D	0.861761	B	0.06786	0.001	B	0.04013	0.001	T	0.06881	-1.0802	10	0.48119	T	0.1	-16.7549	11.815	0.52204	0.8529:0.1471:0.0:0.0	.	118	O75908	SOAT2_HUMAN	P	98;118	ENSP00000450120:Q98P;ENSP00000301466:Q118P	ENSP00000301466:Q118P	Q	+	2	0	SOAT2	51785975	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	3.139000	0.50577	0.963000	0.38082	0.533000	0.62120	CAG		PASS	0.557	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			42	128	42	128	---	---	---	---
HOXC5	3222	broad.mit.edu	37	12	54427045	54427045	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:54427045A>G	ENST00000312492.2	+	1	409	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron|MIR615_ENST00000384839.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	47					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I47V(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GGACTTAAGCATCACTTTCCC	0.622																																						uc001sew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)ATC>GTC		homeobox C5							71.0	67.0	69.0					12																	54427045		2203	4300	6503	SO:0001583	missense	3222				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54427045A>G		CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.139A>G	12.37:g.54427045A>G	ENSP00000309336:p.Ile47Val					HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron|MIR615_hsa-mir-615|MI0003628_5'Flank	p.I47V	NM_018953	NP_061826	Q00444	HXC5_HUMAN			1	214	+			47						Missense_Mutation	SNP	ENST00000312492.2	37	c.139A>G	CCDS8872.1	.	.	.	.	.	.	.	.	.	.	A	0.331	-0.956011	0.02267	.	.	ENSG00000172789	ENST00000312492	D	0.89050	-2.46	4.85	3.71	0.42584	.	0.133291	0.34828	N	0.003649	T	0.76926	0.4056	N	0.25647	0.755	0.80722	D	1	P	0.39480	0.675	B	0.34138	0.176	T	0.72093	-0.4394	10	0.08837	T	0.75	.	9.624	0.39739	0.9161:0.0:0.0839:0.0	.	47	Q00444	HXC5_HUMAN	V	47	ENSP00000309336:I47V	ENSP00000309336:I47V	I	+	1	0	HOXC5	52713312	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.273000	0.43381	0.995000	0.38917	0.533000	0.62120	ATC		PASS	0.622	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358947.1			23	58	23	58	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72335393	72335393	+	Silent	SNP	C	C	T	rs74510566		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:72335393C>T	ENST00000333850.3	+	2	276	c.135C>T	c.(133-135)gaC>gaT	p.D45D	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	45					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.D45D(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GCAAAAATGACGACAAAGGCA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		6803	0.0		0.001	False		,,,				2504	0.0					uc009zrw.1																			2	Substitution - coding silent(2)	p.D45D(1)	ovary(1)|lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(133-135)GAC>GAT		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						82.0	76.0	78.0					12																	72335393		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72335393C>T	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.135C>T	12.37:g.72335393C>T						TPH2_uc001swy.2_Translation_Start_Site	p.D45D	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			2	276	+			45					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.135C>T	CCDS31859.1																																																																																				PASS	0.393	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		25	91	25	91	---	---	---	---
EIF2B1	1967	broad.mit.edu	37	12	124115076	124115076	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:124115076C>G	ENST00000424014.2	-	3	328	c.120G>C	c.(118-120)gaG>gaC	p.E40D	EIF2B1_ENST00000539951.1_Missense_Mutation_p.E27D|EIF2B1_ENST00000537073.1_Missense_Mutation_p.E40D|EIF2B1_ENST00000543940.1_5'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	40					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.E40D(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CCTGGATTGTCTCCCCTGGAA	0.507																																						uc001ufm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GAG>GAC		eukaryotic translation initiation factor 2B,							92.0	67.0	75.0					12																	124115076		2203	4300	6503	SO:0001583	missense	1967				cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	g.chr12:124115076C>G	X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.120G>C	12.37:g.124115076C>G	ENSP00000416250:p.Glu40Asp					EIF2B1_uc001ufn.2_Missense_Mutation_p.E40D|EIF2B1_uc010tat.1_Missense_Mutation_p.E40D	p.E40D	NM_001414	NP_001405	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	3	263	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		40					A6NLY9|B4DGX0|Q3SXP4	Missense_Mutation	SNP	ENST00000424014.2	37	c.120G>C	CCDS31924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.674065|3.674065	0.67928|0.67928	.|.	.|.	ENSG00000111361|ENSG00000111361	ENST00000424014;ENST00000228958;ENST00000539951;ENST00000537073|ENST00000534960	D;D;D;D|.	0.92647|.	-3.08;-3.08;-3.08;-3.08|.	5.25|5.25	3.38|3.38	0.38709|0.38709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62258|0.62258	0.2413|0.2413	M|M	0.62088|0.62088	1.915|1.915	0.54753|0.54753	D|D	0.999985|0.999985	D;D;B|.	0.61697|.	0.982;0.99;0.004|.	P;P;B|.	0.57425|.	0.82;0.737;0.018|.	T|T	0.60047|0.60047	-0.7339|-0.7339	10|5	0.15952|.	T|.	0.53|.	-33.435|-33.435	9.7726|9.7726	0.40598|0.40598	0.0:0.7818:0.0:0.2182|0.0:0.7818:0.0:0.2182	.|.	40;27;40|.	B4DGX0;F5H0D0;Q14232|.	.;.;EI2BA_HUMAN|.	D|T	40;40;27;40|56	ENSP00000416250:E40D;ENSP00000228958:E40D;ENSP00000438060:E27D;ENSP00000444183:E40D|.	ENSP00000228958:E40D|.	E|R	-|-	3|2	2|0	EIF2B1|EIF2B1	122681029|122681029	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	1.216000|1.216000	0.32443|0.32443	1.187000|1.187000	0.43000|0.43000	0.462000|0.462000	0.41574|0.41574	GAG|AGA		PASS	0.507	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		19	57	19	57	---	---	---	---
GALNT9	50614	broad.mit.edu	37	12	132688080	132688080	+	Silent	SNP	G	G	A	rs139441969	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:132688080G>A	ENST00000328957.8	-	7	1232	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	GALNT9_ENST00000397325.2_Silent_p.H45H|GALNT9_ENST00000535228.1_Silent_p.H162H|GALNT9_ENST00000541995.1_Silent_p.H45H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	411					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.H411H(1)|p.H45H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCATGTACACGTGGGACTTGA	0.647													g|||	2	0.000399361	0.0	0.0014	5008	,	,		16436	0.0		0.001	False		,,,				2504	0.0				Colon(186;2147 2752 13553 41466)	uc001ukc.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1231-1233)CAC>CAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		G	,	0,4306		0,0,2153	69.0	75.0	73.0		156,135	2.0	1.0	12	dbSNP_134	73	5,8503		0,5,4249	no	coding-synonymous,coding-synonymous	GALNT9	NM_001122636.1.dup,NM_021808.3	,	0,5,6402	AA,AG,GG		0.0588,0.0,0.039	,	52/245,45/238	132688080	5,12809	2153	4254	6407	SO:0001819	synonymous_variant	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688080G>A	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1233C>T	12.37:g.132688080G>A						GALNT9_uc009zyr.2_Silent_p.H185H|GALNT9_uc001ukb.2_Silent_p.H268H|GALNT9_uc001uka.2_Silent_p.H45H	p.H411H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1349	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	411			Lumenal (Potential).		Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	ENST00000328957.8	37	c.1233C>T		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	g	9.891	1.204234	0.22205	0.0	5.88E-4	ENSG00000182870	ENST00000411988	.	.	.	3.87	2.0	0.26442	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45366	-0.9266	4	.	.	.	.	7.7417	0.28845	0.4477:0.0:0.5523:0.0	.	.	.	.	C	184	.	.	R	-	1	0	GALNT9	131254033	0.497000	0.26067	1.000000	0.80357	0.995000	0.86356	-0.203000	0.09438	0.233000	0.21120	0.448000	0.29417	CGT		PASS	0.647	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		17	51	17	51	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133349708	133349708	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr12:133349708C>G	ENST00000450791.2	-	23	4663	c.4480G>C	c.(4480-4482)Gaa>Caa	p.E1494Q	GOLGA3_ENST00000204726.3_Missense_Mutation_p.E1494Q			Q08378	GOGA3_HUMAN	golgin A3	1494					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.E1494Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCCGGCCCTTCTTTGGAAGCC	0.622																																						uc001ukz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4480-4482)GAA>CAA		Golgi autoantigen, golgin subfamily a, 3							26.0	28.0	27.0					12																	133349708		2196	4294	6490	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133349708C>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4480G>C	12.37:g.133349708C>G	ENSP00000410378:p.Glu1494Gln						p.E1494Q	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	24	5039	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1494					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.4480G>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.751556	0.89753	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.26957	1.7;1.7	5.38	4.49	0.54785	.	0.290571	0.32120	N	0.006553	T	0.20414	0.0491	L	0.27053	0.805	0.49213	D	0.99976	B	0.20261	0.043	B	0.19391	0.025	T	0.03463	-1.1034	10	0.62326	D	0.03	.	13.749	0.62894	0.0:0.8456:0.1544:0.0	.	1494	Q08378	GOGA3_HUMAN	Q	1494	ENSP00000204726:E1494Q;ENSP00000410378:E1494Q	ENSP00000204726:E1494Q	E	-	1	0	GOLGA3	131859781	0.002000	0.14202	0.002000	0.10522	0.669000	0.39330	1.558000	0.36309	1.378000	0.46305	0.650000	0.86243	GAA		PASS	0.622	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	8	4	8	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32937318	32937318	+	Missense_Mutation	SNP	A	A	G	rs397507950		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr13:32937318A>G	ENST00000380152.3	+	18	8212	c.7979A>G	c.(7978-7980)tAt>tGt	p.Y2660C	BRCA2_ENST00000544455.1_Missense_Mutation_p.Y2660C			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2660					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.Y2660C(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTTTAGATATGATACGGAA	0.323			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(7978-7980)TAT>TGT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							43.0	41.0	42.0					13																	32937318		2203	4299	6502	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32937318A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7979A>G	13.37:g.32937318A>G	ENSP00000369497:p.Tyr2660Cys	TCGA Ovarian(8;0.087)					p.Y2660C	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	18	8206	+		Lung SC(185;0.0262)	2660					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.7979A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876054	0.72180	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.91464	-2.85;-2.85	4.93	4.93	0.64822	DNA recombination/repair protein BRCA2, helical domain (2);	0.128268	0.53938	D	0.000045	D	0.95500	0.8538	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96142	0.9101	10	0.72032	D	0.01	.	14.8785	0.70513	1.0:0.0:0.0:0.0	.	2660	P51587	BRCA2_HUMAN	C	2660	ENSP00000369497:Y2660C;ENSP00000439902:Y2660C	ENSP00000369497:Y2660C	Y	+	2	0	BRCA2	31835318	1.000000	0.71417	0.997000	0.53966	0.941000	0.58515	8.910000	0.92685	1.983000	0.57843	0.383000	0.25322	TAT		PASS	0.323	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		34	48	34	48	---	---	---	---
SUPT20H	55578	broad.mit.edu	37	13	37595737	37595737	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr13:37595737C>T	ENST00000350612.6	-	21	1884	c.1664G>A	c.(1663-1665)gGg>gAg	p.G555E	SUPT20H_ENST00000464744.1_Missense_Mutation_p.G556E|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G556E|SUPT20H_ENST00000360252.4_Missense_Mutation_p.G556E|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G634E	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	555					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.G555E(1)									AGCCTGGGCCCCACTGCAGGA	0.448																																						uc001uwg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1663-1665)GGG>GAG		family with sequence similarity 48, member A							40.0	37.0	38.0					13																	37595737		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37595737C>T	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1664G>A	13.37:g.37595737C>T	ENSP00000218894:p.Gly555Glu					FAM48A_uc010abt.2_Missense_Mutation_p.G556E|FAM48A_uc001uwh.2_Missense_Mutation_p.G556E|FAM48A_uc001uwi.2_Missense_Mutation_p.G555E|FAM48A_uc001uwj.2_Missense_Mutation_p.G556E|FAM48A_uc001uwk.2_Missense_Mutation_p.G634E|FAM48A_uc001uwd.2_Missense_Mutation_p.G42E|FAM48A_uc001uwe.2_Missense_Mutation_p.G39E|FAM48A_uc001uwf.2_Missense_Mutation_p.G133E	p.G555E	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	21	1912	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	555					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.1664G>A	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.405473|4.405473	0.83230|0.83230	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744|ENST00000469488	T;T;T;T;T|.	0.52057|.	0.72;0.68;1.28;0.72;0.72|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.056057|0.056057	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.77785|0.77785	0.4182|0.4182	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	D;P;D;P;D|.	0.60160|.	0.987;0.893;0.962;0.893;0.962|.	P;B;P;B;P|.	0.54544|.	0.755;0.405;0.704;0.405;0.704|.	T|T	0.78107|0.78107	-0.2333|-0.2333	10|7	0.10902|0.52906	T|T	0.67|0.07	-10.4051|-10.4051	19.5655|19.5655	0.95391|0.95391	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	634;556;556;555;555|.	E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46|.	.;.;.;FA48A_HUMAN;.|.	E|R	556;634;555;556;555;556|110	ENSP00000353388:G556E;ENSP00000417510:G634E;ENSP00000218894:G555E;ENSP00000348512:G556E;ENSP00000419754:G556E|.	ENSP00000218894:G555E|ENSP00000419787:G110R	G|G	-|-	2|1	0|0	FAM48A|FAM48A	36493737|36493737	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	6.676000|6.676000	0.74498|0.74498	2.639000|2.639000	0.89480|0.89480	0.591000|0.591000	0.81541|0.81541	GGG|GGG		PASS	0.448	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569		18	23	18	23	---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38158192	38158192	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr13:38158192T>C	ENST00000379747.4	-	9	1274	c.1157A>G	c.(1156-1158)gAt>gGt	p.D386G	POSTN_ENST00000541179.1_Missense_Mutation_p.D386G|POSTN_ENST00000379743.4_Missense_Mutation_p.D386G|POSTN_ENST00000379742.4_Missense_Mutation_p.D386G|POSTN_ENST00000379749.4_Missense_Mutation_p.D386G|POSTN_ENST00000541481.1_Missense_Mutation_p.D386G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	386	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.D386G(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GGCCACAAGATCCGTGAAGGT	0.443																																						uc001uwo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1156-1158)GAT>GGT		periostin, osteoblast specific factor isoform 1							131.0	103.0	113.0					13																	38158192		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38158192T>C	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1157A>G	13.37:g.38158192T>C	ENSP00000369071:p.Asp386Gly					POSTN_uc001uwp.3_Missense_Mutation_p.D386G|POSTN_uc001uwr.2_Missense_Mutation_p.D386G|POSTN_uc001uwq.2_Missense_Mutation_p.D386G|POSTN_uc010teu.1_Missense_Mutation_p.D386G|POSTN_uc010tev.1_Missense_Mutation_p.D386G|POSTN_uc010tew.1_Missense_Mutation_p.D386G|POSTN_uc010tex.1_Missense_Mutation_p.D301G	p.D386G	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	9	1275	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	386			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1157A>G	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.752314	0.89753	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	T;T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	5.81	5.81	0.92471	FAS1 domain (4);	0.000000	0.85682	D	0.000000	T	0.82240	0.4994	L	0.61387	1.9	0.58432	D	0.999994	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.993;0.999;0.999;0.968;0.993	D;D;D;D;D;P;D	0.91635	0.999;0.998;0.95;0.998;0.994;0.644;0.95	T	0.82311	-0.0520	10	0.46703	T	0.11	-18.3817	16.1773	0.81862	0.0:0.0:0.0:1.0	.	386;386;386;386;386;386;386	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	G	386	ENSP00000437959:D386G;ENSP00000369073:D386G;ENSP00000369071:D386G;ENSP00000369067:D386G;ENSP00000369066:D386G;ENSP00000437953:D386G	ENSP00000369066:D386G	D	-	2	0	POSTN	37056192	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.698000	0.84413	2.217000	0.71921	0.482000	0.46254	GAT		PASS	0.443	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		27	42	27	42	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329873	88329873	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr13:88329873C>T	ENST00000325089.6	+	2	2449	c.2230C>T	c.(2230-2232)Ccc>Tcc	p.P744S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P503S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	744					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.P744S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTGAAGACGCCCGCGGGCCA	0.652																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(2230-2232)CCC>TCC		SLIT and NTRK-like family, member 5 precursor							47.0	50.0	49.0					13																	88329873		2200	4295	6495	SO:0001583	missense	26050					integral to membrane		g.chr13:88329873C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2230C>T	13.37:g.88329873C>T	ENSP00000366283:p.Pro744Ser					SLITRK5_uc010tic.1_Missense_Mutation_p.P503S	p.P744S	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	2449	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		744			Cytoplasmic (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.2230C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.233687	0.39498	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59224	0.28;0.63	4.71	4.71	0.59529	.	0.065682	0.64402	D	0.000010	T	0.46151	0.1378	L	0.35341	1.055	0.42120	D	0.991423	B;B	0.17852	0.011;0.024	B;B	0.15870	0.01;0.014	T	0.37126	-0.9719	9	.	.	.	-3.1483	15.1483	0.72677	0.0:1.0:0.0:0.0	.	503;744	B4DSH5;O94991	.;SLIK5_HUMAN	S	744;503	ENSP00000366283:P744S;ENSP00000442244:P503S	.	P	+	1	0	SLITRK5	87127874	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	4.122000	0.57910	2.131000	0.65755	0.555000	0.69702	CCC		PASS	0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			17	26	17	26	---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96599352	96599352	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr13:96599352C>T	ENST00000376747.3	-	15	1686	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	539					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.R539Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTTGAAAGCTCGCCAGAGAGC	0.343																																						uc001vmt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1615-1617)CGA>CAA		UDP-glucose ceramide glucosyltransferase-like 2							72.0	76.0	74.0					13																	96599352		2202	4299	6501	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96599352C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1616G>A	13.37:g.96599352C>T	ENSP00000365938:p.Arg539Gln						p.R539Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			15	1786	-			539					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1616G>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020675	0.75275	.	.	ENSG00000102595	ENST00000376747	T	0.39592	1.07	5.82	4.98	0.66077	.	0.107912	0.64402	N	0.000011	T	0.57140	0.2033	M	0.85197	2.74	0.80722	D	1	D	0.64830	0.994	P	0.52710	0.707	T	0.61530	-0.7044	10	0.39692	T	0.17	-4.0477	11.1049	0.48197	0.0:0.8581:0.0:0.1419	.	539	Q9NYU1	UGGG2_HUMAN	Q	539	ENSP00000365938:R539Q	ENSP00000365938:R539Q	R	-	2	0	UGGT2	95397353	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.062000	0.57492	1.458000	0.47871	0.573000	0.79308	CGA		PASS	0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		64	101	64	101	---	---	---	---
ADPRHL1	113622	broad.mit.edu	37	13	114107615	114107615	+	Silent	SNP	G	G	A	rs148683938		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr13:114107615G>A	ENST00000375418.3	-	1	224	c.138C>T	c.(136-138)ctC>ctT	p.L46L		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	46					protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.L46L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCGAGAGTACGAGGTGGTCCA	0.612																																						uc001vtq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(136-138)CTC>CTT		ADP-ribosylhydrolase like 1 isoform 1		G		1,4405	2.1+/-5.4	0,1,2202	135.0	121.0	126.0		138	-11.0	0.0	13	dbSNP_134	126	0,8600		0,0,4300	no	coding-synonymous	ADPRHL1	NM_138430.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		46/355	114107615	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	113622				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr13:114107615G>A	AJ313429	CCDS9535.1, CCDS9536.1	13q34	2003-06-19			ENSG00000153531	ENSG00000153531			21303	protein-coding gene	gene with protein product		610620				12070318	Standard	NM_138430		Approved	ARH2	uc001vtq.1	Q8NDY3	OTTHUMG00000017386	ENST00000375418.3:c.138C>T	13.37:g.114107615G>A							p.L46L	NM_138430	NP_612439	Q8NDY3	ARHL1_HUMAN	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)		1	225	-	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	46					Q5JUG2|Q96GD1	Silent	SNP	ENST00000375418.3	37	c.138C>T	CCDS9535.1																																																																																				PASS	0.612	ADPRHL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045915.2	NM_138430		34	83	34	83	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20482708	20482708	+	Silent	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:20482708G>C	ENST00000305045.2	-	1	644	c.645C>G	c.(643-645)ctC>ctG	p.L215L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L215L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGGAGATCAGGAGGAGCAGAA	0.498																																						uc010tky.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(643-645)CTC>CTG		olfactory receptor, family 4, subfamily K,							92.0	80.0	84.0					14																	20482708		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482708G>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.645C>G	14.37:g.20482708G>C							p.L215L	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	645	-	all_cancers(95;0.00108)		215			Helical; Name=5; (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.645C>G	CCDS32027.1																																																																																				PASS	0.498	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			11	48	11	48	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24041127	24041127	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:24041127G>T	ENST00000397118.3	-	5	2056	c.1154C>A	c.(1153-1155)gCa>gAa	p.A385E	JPH4_ENST00000356300.4_Missense_Mutation_p.A385E|JPH4_ENST00000544177.1_Missense_Mutation_p.A50E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	385					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A385E(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCGTCTGCTGCCCTGTCGGG	0.607																																						uc001wkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1153-1155)GCA>GAA		junctophilin 4							48.0	45.0	46.0					14																	24041127		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24041127G>T	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1154C>A	14.37:g.24041127G>T	ENSP00000380307:p.Ala385Glu					JPH4_uc010tnr.1_Missense_Mutation_p.A50E|JPH4_uc001wkr.2_Missense_Mutation_p.A385E	p.A385E	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	5	2072	-	all_cancers(95;0.000251)		385			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1154C>A	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718336	0.68844	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.59364	0.27;0.27;0.46	5.24	5.24	0.73138	.	0.000000	0.29956	U	0.010766	T	0.56262	0.1973	L	0.38175	1.15	0.33694	D	0.613737	P;P	0.44139	0.827;0.808	P;B	0.49192	0.602;0.206	T	0.69818	-0.5042	10	0.87932	D	0	.	11.7226	0.51691	0.0:0.0:0.8235:0.1765	.	50;385	F5H1L9;Q96JJ6	.;JPH4_HUMAN	E	385;385;385;386;50	ENSP00000348648:A385E;ENSP00000380307:A385E;ENSP00000439562:A50E	ENSP00000267407:A386E	A	-	2	0	JPH4	23110967	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.796000	0.55507	2.612000	0.88384	0.561000	0.74099	GCA		PASS	0.607	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		12	65	12	65	---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	34204431	34204431	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:34204431A>T	ENST00000356141.4	+	7	745	c.745A>T	c.(745-747)Agc>Tgc	p.S249C	NPAS3_ENST00000346562.2_Missense_Mutation_p.S217C|NPAS3_ENST00000551492.1_Missense_Mutation_p.S254C|NPAS3_ENST00000548645.1_Missense_Mutation_p.S219C|NPAS3_ENST00000357798.5_Missense_Mutation_p.S236C			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	249					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S249C(1)|p.S236C(1)|p.S217C(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGAGTCAACCAGCCCCAGTCT	0.468																																						uc001wru.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(745-747)AGC>TGC		neuronal PAS domain protein 3 isoform 3							145.0	128.0	134.0					14																	34204431		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34204431A>T	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.745A>T	14.37:g.34204431A>T	ENSP00000348460:p.Ser249Cys					NPAS3_uc001wrs.2_Missense_Mutation_p.S236C|NPAS3_uc001wrt.2_Missense_Mutation_p.S217C|NPAS3_uc001wrv.2_Missense_Mutation_p.S219C	p.S249C	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	7	809	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		249					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.745A>T	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.526009	0.85600	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.08370	3.37;3.23;3.24;3.24;3.24;3.1	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	L	0.40543	1.245	0.80722	D	1	D;D;D;P	0.76494	0.999;0.975;0.994;0.896	D;P;D;P	0.67231	0.95;0.594;0.943;0.51	T	0.00198	-1.1929	10	0.72032	D	0.01	.	16.5602	0.84551	1.0:0.0:0.0:0.0	.	219;249;217;236	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	C	226;254;217;219;249;236	ENSP00000448373:S226C;ENSP00000450392:S254C;ENSP00000319610:S217C;ENSP00000448916:S219C;ENSP00000348460:S249C;ENSP00000350446:S236C	ENSP00000319610:S217C	S	+	1	0	NPAS3	33274182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.127000	0.94417	2.367000	0.80283	0.528000	0.53228	AGC		PASS	0.468	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			55	137	55	137	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360493	42360493	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:42360493C>G	ENST00000298119.4	+	4	2615	c.1426C>G	c.(1426-1428)Ctg>Gtg	p.L476V	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	476	Fibronectin type-III.					integral component of membrane (GO:0016021)		p.L476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGTCAATAATCTGGCTGCTGG	0.403										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1426-1428)CTG>GTG		leucine rich repeat and fibronectin type III							155.0	124.0	135.0					14																	42360493		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360493C>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1426C>G	14.37:g.42360493C>G	ENSP00000298119:p.Leu476Val	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.L476V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2624	+			476			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1426C>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825506	0.50739	.	.	ENSG00000165379	ENST00000298119	D	0.82803	-1.65	5.88	4.04	0.47022	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000681	D	0.89434	0.6714	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88833	0.3307	10	0.87932	D	0	.	9.1197	0.36780	0.1471:0.776:0.0:0.0768	.	476	Q96NI6	LRFN5_HUMAN	V	476	ENSP00000298119:L476V	ENSP00000298119:L476V	L	+	1	2	LRFN5	41430243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.360000	0.52299	0.793000	0.33875	0.650000	0.86243	CTG		PASS	0.403	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		43	198	43	198	---	---	---	---
RPL10L	140801	broad.mit.edu	37	14	47120930	47120930	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:47120930G>T	ENST00000298283.3	-	1	98	c.10C>A	c.(10-12)Cgt>Agt	p.R4S		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	4					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)	p.R4S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGAGCTGGACGGCGCCCCATG	0.557																																						uc001wwg.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(10-12)CGT>AGT		ribosomal protein L10-like protein							65.0	69.0	67.0					14																	47120930		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120930G>T	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.10C>A	14.37:g.47120930G>T	ENSP00000298283:p.Arg4Ser						p.R4S	NM_080746	NP_542784	Q96L21	RL10L_HUMAN			1	99	-			4					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.10C>A	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746413	0.49257	.	.	ENSG00000165496	ENST00000298283	T	0.77620	-1.11	4.32	3.42	0.39159	Ribosomal protein L10e/L16 (1);	0.060938	0.64402	D	0.000004	D	0.82323	0.5012	H	0.95504	3.68	0.58432	D	0.999999	P	0.35612	0.512	B	0.34779	0.189	D	0.84942	0.0866	10	0.87932	D	0	-25.8262	9.7961	0.40735	0.0:0.0:0.7953:0.2047	.	4	Q96L21	RL10L_HUMAN	S	4	ENSP00000298283:R4S	ENSP00000298283:R4S	R	-	1	0	RPL10L	46190680	1.000000	0.71417	0.995000	0.50966	0.260000	0.26232	2.572000	0.45999	1.393000	0.46605	0.655000	0.94253	CGT		PASS	0.557	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			24	114	24	114	---	---	---	---
BMP4	652	broad.mit.edu	37	14	54417392	54417392	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:54417392G>A	ENST00000245451.4	-	4	978	c.585C>T	c.(583-585)ctC>ctT	p.L195L	BMP4_ENST00000558984.1_Silent_p.L195L|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000417573.1_Silent_p.L195L|BMP4_ENST00000559087.1_Silent_p.L195L	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	195					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.L195L(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCGTGTGATGAGGTGCCCAG	0.572																																						uc001xal.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(583-585)CTC>CTT		bone morphogenetic protein 4 preproprotein							78.0	76.0	77.0					14																	54417392		2203	4300	6503	SO:0001819	synonymous_variant	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417392G>A	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.585C>T	14.37:g.54417392G>A						BMP4_uc010aoh.2_Silent_p.L195L|BMP4_uc001xao.3_Silent_p.L195L|BMP4_uc001xan.3_Silent_p.L195L	p.L195L	NM_130851	NP_570912	P12644	BMP4_HUMAN			3	772	-			195					Q9UM80	Silent	SNP	ENST00000245451.4	37	c.585C>T	CCDS9715.1																																																																																				PASS	0.572	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		35	126	35	126	---	---	---	---
SLC10A1	6554	broad.mit.edu	37	14	70245164	70245164	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:70245164C>T	ENST00000216540.4	-	4	962	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	277					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)	p.E277K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CCAATGACTTCAGGTGGAAAG	0.473																																						uc001xlr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(829-831)GAA>AAA		solute carrier family 10, member 1							166.0	141.0	149.0					14																	70245164		2203	4300	6503	SO:0001583	missense	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70245164C>T	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.829G>A	14.37:g.70245164C>T	ENSP00000216540:p.Glu277Lys						p.E277K	NM_003049	NP_003040	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	4	963	-			277					B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	37	c.829G>A	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741585	0.69304	.	.	ENSG00000100652	ENST00000216540	T	0.08896	3.04	4.81	3.91	0.45181	.	0.240414	0.41294	D	0.000904	T	0.11793	0.0287	M	0.76727	2.345	0.33129	D	0.542817	P	0.44986	0.847	B	0.41813	0.367	T	0.11494	-1.0585	10	0.06099	T	0.92	-6.9726	15.2132	0.73241	0.0:0.8587:0.1413:0.0	.	277	Q14973	NTCP_HUMAN	K	277	ENSP00000216540:E277K	ENSP00000216540:E277K	E	-	1	0	SLC10A1	69314917	0.992000	0.36948	1.000000	0.80357	0.977000	0.68977	2.436000	0.44819	1.233000	0.43693	0.561000	0.74099	GAA		PASS	0.473	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1			52	150	52	150	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72090948	72090948	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:72090948C>G	ENST00000555818.1	+	4	2161	c.1813C>G	c.(1813-1815)Caa>Gaa	p.Q605E	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.Q80E|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.Q605E|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.Q605E	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	605					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.Q605E(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGGATGAACAAGGGGTGAG	0.483																																						uc001xms.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1813-1815)CAA>GAA		signal-induced proliferation-associated 1 like							122.0	101.0	108.0					14																	72090948		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72090948C>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1813C>G	14.37:g.72090948C>G	ENSP00000450832:p.Gln605Glu					SIPA1L1_uc001xmt.2_Missense_Mutation_p.Q605E|SIPA1L1_uc001xmu.2_Missense_Mutation_p.Q605E|SIPA1L1_uc001xmv.2_Missense_Mutation_p.Q605E|SIPA1L1_uc010ttm.1_Missense_Mutation_p.Q80E	p.Q605E	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	4	2161	+			605					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.1813C>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723313	0.89298	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413;ENST00000555066	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.29	5.29	0.74685	Rap/ran-GAP (1);	0.000000	0.85682	D	0.000000	D	0.97093	0.9050	M	0.85710	2.77	0.80722	D	1	D;B;D;D;P	0.89917	0.998;0.303;1.0;0.999;0.924	D;B;D;D;P	0.91635	0.998;0.394;0.997;0.999;0.9	D	0.97429	1.0014	10	0.87932	D	0	-17.4556	19.12	0.93358	0.0:1.0:0.0:0.0	.	80;605;80;605;605	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	E	605;605;605;80;106	ENSP00000370630:Q605E;ENSP00000450832:Q605E;ENSP00000351352:Q605E;ENSP00000440682:Q80E;ENSP00000452450:Q106E	ENSP00000351352:Q605E	Q	+	1	0	SIPA1L1	71160701	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	7.651000	0.83577	2.752000	0.94435	0.655000	0.94253	CAA		PASS	0.483	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		34	105	34	105	---	---	---	---
LRRC74A	145497	broad.mit.edu	37	14	77318767	77318767	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:77318767G>A	ENST00000393774.3	+	8	911	c.787G>A	c.(787-789)Gct>Act	p.A263T	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2												p.A263T(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CACAAGGGGAGCTGTGGCCTT	0.582																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(787-789)GCT>ACT		hypothetical protein LOC145497							116.0	86.0	96.0					14																	77318767		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77318767G>A																												ENST00000393774.3:c.787G>A	14.37:g.77318767G>A	ENSP00000377369:p.Ala263Thr					C14orf166B_uc010asn.1_Missense_Mutation_p.A23T|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	p.A263T	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	8	901	+			263			LRR 5.			Missense_Mutation	SNP	ENST00000393774.3	37	c.787G>A	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959966	0.53400	.	.	ENSG00000100565	ENST00000393774	T	0.68331	-0.32	5.0	3.16	0.36331	.	0.167174	0.51477	N	0.000081	T	0.69886	0.3161	M	0.78285	2.405	0.80722	D	1	P	0.44309	0.832	P	0.47346	0.544	T	0.67325	-0.5699	10	0.39692	T	0.17	.	9.6847	0.40091	0.2345:0.0:0.7655:0.0	.	263	Q0VAA2	CN16B_HUMAN	T	263	ENSP00000377369:A263T	ENSP00000377369:A263T	A	+	1	0	C14orf166B	76388520	1.000000	0.71417	0.975000	0.42487	0.368000	0.29767	4.605000	0.61119	0.505000	0.28104	0.462000	0.41574	GCT		PASS	0.582	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			9	26	9	26	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86089506	86089506	+	Missense_Mutation	SNP	G	G	A	rs199824822		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr14:86089506G>A	ENST00000330753.4	+	2	2415	c.1648G>A	c.(1648-1650)Gcg>Acg	p.A550T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A550T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	550					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.A550T(1)|p.A550S(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCGGGGGCGCGGTGATATT	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		15289	0.0		0.0	False		,,,				2504	0.001					uc001xvr.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(1648-1650)GCG>ACG		fibronectin leucine rich transmembrane protein 2							75.0	80.0	78.0					14																	86089506		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089506G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1648G>A	14.37:g.86089506G>A	ENSP00000332879:p.Ala550Thr					FLRT2_uc010atd.2_Missense_Mutation_p.A550T	p.A550T	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2415	+			550			Helical; (Potential).		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1648G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937539	0.73557	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.60920	0.15;0.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.53384	0.1793	M	0.64404	1.975	0.80722	D	1	D	0.52996	0.957	B	0.31245	0.126	T	0.63001	-0.6734	10	0.56958	D	0.05	-16.4932	20.8794	0.99867	0.0:0.0:1.0:0.0	.	550	O43155	FLRT2_HUMAN	T	550;550;203	ENSP00000332879:A550T;ENSP00000451050:A550T	ENSP00000332879:A550T	A	+	1	0	FLRT2	85159259	1.000000	0.71417	0.143000	0.22291	0.888000	0.51559	8.061000	0.89467	2.941000	0.99782	0.655000	0.94253	GCG		PASS	0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			46	111	46	111	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811738	23811738	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:23811738G>T	ENST00000314520.3	+	1	1285	c.809G>T	c.(808-810)gGg>gTg	p.G270V	MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	270	Makorin-type Cys-His.				protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G270V(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GACATGTGTGGGCTGCAGACC	0.527																																						uc001ywh.3																			2	Substitution - Missense(2)		lung(2)	lung(6)|large_intestine(2)|ovary(2)	10						c.(808-810)GGG>GTG		makorin ring finger protein 3							103.0	104.0	104.0					15																	23811738		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811738G>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.809G>T	15.37:g.23811738G>T	ENSP00000313881:p.Gly270Val					MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G270V	p.G270V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1285	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	270			Makorin-type Cys-His.			Missense_Mutation	SNP	ENST00000314520.3	37	c.809G>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961918	0.53400	.	.	ENSG00000179455	ENST00000314520	T	0.48836	0.8	4.07	4.07	0.47477	.	0.053120	0.85682	D	0.000000	T	0.73521	0.3597	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.79732	-0.1680	10	0.62326	D	0.03	.	14.5895	0.68354	0.0:0.0:1.0:0.0	.	270	Q13064	MKRN3_HUMAN	V	270	ENSP00000313881:G270V	ENSP00000313881:G270V	G	+	2	0	MKRN3	21362831	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	8.986000	0.93492	2.567000	0.86603	0.655000	0.94253	GGG		PASS	0.527	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		22	65	22	65	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28211956	28211956	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:28211956C>A	ENST00000354638.3	-	15	1671	c.1516G>T	c.(1516-1518)Gcc>Tcc	p.A506S	OCA2_ENST00000382996.2_Missense_Mutation_p.A506S|OCA2_ENST00000353809.5_Missense_Mutation_p.A482S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	506					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.A506S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGAATCCGGCAAAGTCCAGG	0.502									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1516-1518)GCC>TCC		oculocutaneous albinism II							66.0	56.0	59.0					15																	28211956		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211956C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1516G>T	15.37:g.28211956C>A	ENSP00000346659:p.Ala506Ser					OCA2_uc010ayv.2_Missense_Mutation_p.A482S	p.A506S	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1626	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	506			Extracellular (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1516G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443202	0.63067	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	T;T;T	0.80909	-1.43;-1.43;-1.43	5.05	5.05	0.67936	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.78110	0.4232	L	0.36672	1.1	0.58432	D	0.999992	B;B	0.28820	0.196;0.224	B;B	0.38842	0.098;0.283	T	0.76192	-0.3049	10	0.42905	T	0.14	-19.0275	16.249	0.82472	0.0:1.0:0.0:0.0	.	482;506	Q04671-2;Q04671	.;P_HUMAN	S	506;482;506	ENSP00000346659:A506S;ENSP00000261276:A482S;ENSP00000372457:A506S	ENSP00000261276:A482S	A	-	1	0	OCA2	25885551	1.000000	0.71417	0.989000	0.46669	0.484000	0.33280	6.945000	0.75947	2.494000	0.84150	0.555000	0.69702	GCC		PASS	0.502	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		11	43	11	43	---	---	---	---
CHRNA7	1139	broad.mit.edu	37	15	32455507	32455507	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:32455507G>T	ENST00000306901.3	+	9	1058	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	CHRNA7_ENST00000455693.2_Missense_Mutation_p.D140Y|CHRNA7_ENST00000454250.3_Missense_Mutation_p.D350Y	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	321					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.D321Y(1)|p.D231Y(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CCACCACCACGACCCCGACGG	0.592																																					Esophageal Squamous(193;529 2900 40232 43193)	uc001zft.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(961-963)GAC>TAC		cholinergic receptor, nicotinic, alpha 7	Nicotine(DB00184)|Varenicline(DB01273)						22.0	22.0	22.0					15																	32455507		1241	2196	3437	SO:0001583	missense	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32455507G>T	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.961G>T	15.37:g.32455507G>T	ENSP00000303727:p.Asp321Tyr					uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.D140Y|CHRNA7_uc010baj.1_Missense_Mutation_p.D181Y|CHRNA7_uc010bak.2_Missense_Mutation_p.D236Y	p.D321Y	NM_000746	NP_000737	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	9	1033	+		all_lung(180;6.35e-11)	321			Cytoplasmic (Potential).		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	c.961G>T	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	g	19.77	3.888546	0.72524	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	D;D;D	0.85629	-2.01;-2.01;-2.01	3.61	3.61	0.41365	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.044020	0.85682	D	0.000000	D	0.91150	0.7213	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.999;0.983;0.999	D	0.92079	0.5671	10	0.87932	D	0	.	13.5603	0.61784	0.0:0.0:1.0:0.0	.	350;217;321	B4DFS0;B1N7G6;P36544	.;.;ACHA7_HUMAN	Y	231;350;321;140	ENSP00000407546:D350Y;ENSP00000303727:D321Y;ENSP00000405989:D140Y	ENSP00000303727:D321Y	D	+	1	0	CHRNA7	30242799	1.000000	0.71417	0.974000	0.42286	0.758000	0.43043	7.402000	0.79972	2.311000	0.77944	0.555000	0.69702	GAC		PASS	0.592	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			11	31	11	31	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34140564	34140564	+	Missense_Mutation	SNP	G	G	A	rs533061407		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:34140564G>A	ENST00000389232.4	+	94	13640	c.13570G>A	c.(13570-13572)Gaa>Aaa	p.E4524K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4519K|RYR3_ENST00000559917.1_3'UTR	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4524					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.E4523K(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)		ATATATCACCGAACAGCCATC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		18392	0.0		0.0	False		,,,				2504	0.001					uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13570-13572)GAA>AAA		ryanodine receptor 3							78.0	81.0	80.0					15																	34140564		1969	4180	6149	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34140564G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13570G>A	15.37:g.34140564G>A	ENSP00000373884:p.Glu4524Lys					RYR3_uc010bar.2_Missense_Mutation_p.E4519K	p.E4524K	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)	94	13640	+		all_lung(180;7.18e-09)	4524					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.13570G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344538	0.82022	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.97186	-4.28	5.09	5.09	0.68999	.	0.059612	0.64402	D	0.000004	D	0.96178	0.8754	L	0.52905	1.665	0.58432	D	0.999995	P;P	0.52692	0.683;0.955	B;P	0.45377	0.183;0.478	D	0.95871	0.8891	10	0.46703	T	0.11	.	19.0429	0.93008	0.0:0.0:1.0:0.0	.	4519;4524	Q15413-2;Q15413	.;RYR3_HUMAN	K	4524;4520	ENSP00000373884:E4524K	ENSP00000354735:E4520K	E	+	1	0	RYR3	31927856	1.000000	0.71417	0.984000	0.44739	0.926000	0.56050	9.441000	0.97557	2.795000	0.96236	0.655000	0.94253	GAA		PASS	0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			54	108	54	108	---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42156199	42156199	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:42156199G>C	ENST00000320955.6	-	40	7169	c.6942C>G	c.(6940-6942)atC>atG	p.I2314M	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2314					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.I2314M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGATGCTCCTGATGCAGGCAT	0.592																																						uc001zos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(6835-6837)ATC>ATG		spectrin, beta, non-erythrocytic 5							95.0	97.0	96.0					15																	42156199		2020	4188	6208	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42156199G>C	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6942C>G	15.37:g.42156199G>C	ENSP00000317790:p.Ile2314Met						p.I2279M	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	40	7170	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2314			Spectrin 20.			Missense_Mutation	SNP	ENST00000320955.6	37	c.6837C>G		.	.	.	.	.	.	.	.	.	.	.	12.49	1.952731	0.34471	.	.	ENSG00000137877	ENST00000320955	T	0.54479	0.57	5.05	4.12	0.48240	.	0.228775	0.36101	N	0.002791	T	0.66046	0.2750	M	0.81497	2.545	0.24812	N	0.99263	P	0.52577	0.954	P	0.59889	0.865	T	0.60530	-0.7245	10	0.87932	D	0	.	6.3664	0.21457	0.0928:0.0:0.7231:0.1841	.	2314	Q9NRC6	SPTN5_HUMAN	M	2314	ENSP00000317790:I2314M	ENSP00000317790:I2314M	I	-	3	3	SPTBN5	39943491	1.000000	0.71417	0.718000	0.30602	0.082000	0.17680	3.226000	0.51254	1.095000	0.41419	0.561000	0.74099	ATC		PASS	0.592	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		39	103	39	103	---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45564978	45564978	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:45564978C>G	ENST00000347644.3	+	17	1920	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	SLC28A2_ENST00000560767.1_3'UTR|CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	619					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.Q619E(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	AGGGCTCTTTCAGAGGTGAGC	0.522																																					NSCLC(92;493 1501 26361 28917 47116)	uc001zva.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1855-1857)CAG>GAG		solute carrier family 28 (sodium-coupled							61.0	57.0	58.0					15																	45564978		2198	4298	6496	SO:0001583	missense	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45564978C>G	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1855C>G	15.37:g.45564978C>G	ENSP00000315006:p.Gln619Glu						p.Q619E	NM_004212	NP_004203	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	17	1920	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	619					A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	c.1855C>G	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767500	0.49574	.	.	ENSG00000137860	ENST00000347644	T	0.01613	4.73	5.99	5.99	0.97316	.	0.341315	0.34580	N	0.003845	T	0.03871	0.0109	M	0.74881	2.28	0.32958	D	0.52059	B	0.14012	0.009	B	0.13407	0.009	T	0.13072	-1.0523	10	0.22706	T	0.39	-1.5246	15.9778	0.80083	0.0:1.0:0.0:0.0	.	619	O43868	S28A2_HUMAN	E	619	ENSP00000315006:Q619E	ENSP00000315006:Q619E	Q	+	1	0	SLC28A2	43352270	0.996000	0.38824	1.000000	0.80357	0.949000	0.60115	2.156000	0.42310	2.840000	0.97914	0.655000	0.94253	CAG		PASS	0.522	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212		22	89	22	89	---	---	---	---
GCNT3	9245	broad.mit.edu	37	15	59910530	59910530	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:59910530C>T	ENST00000396065.1	+	3	541	c.93C>T	c.(91-93)ttC>ttT	p.F31F	GCNT3_ENST00000560585.1_Silent_p.F31F	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	31					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.F31F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTTTCTTTCAGGTTGAAGT	0.478																																						uc002age.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(91-93)TTC>TTT		glucosaminyl (N-acetyl) transferase 3, mucin							91.0	93.0	92.0					15																	59910530		2190	4290	6480	SO:0001819	synonymous_variant	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59910530C>T	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.93C>T	15.37:g.59910530C>T						GCNT3_uc002agd.2_Silent_p.F31F	p.F31F	NM_004751	NP_004742	O95395	GCNT3_HUMAN			3	542	+			31			Lumenal (Potential).			Silent	SNP	ENST00000396065.1	37	c.93C>T	CCDS10172.1																																																																																				PASS	0.478	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751		65	177	65	177	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65917025	65917025	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:65917025T>C	ENST00000261892.6	+	2	894	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	SLC24A1_ENST00000537259.1_Missense_Mutation_p.S203P|SLC24A1_ENST00000399033.4_Missense_Mutation_p.S203P|SLC24A1_ENST00000339868.6_Missense_Mutation_p.S203P|SLC24A1_ENST00000544319.2_Missense_Mutation_p.S203P|SLC24A1_ENST00000546330.1_Missense_Mutation_p.S203P	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	203					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.S203P(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TTACGTGCCGTCCACATTCAT	0.478																																						uc010ujf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(607-609)TCC>CCC		solute carrier family 24							42.0	40.0	41.0					15																	65917025		1998	4174	6172	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917025T>C	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.607T>C	15.37:g.65917025T>C	ENSP00000261892:p.Ser203Pro					SLC24A1_uc010ujd.1_Missense_Mutation_p.S203P|SLC24A1_uc010uje.1_Missense_Mutation_p.S203P|SLC24A1_uc010ujg.1_Missense_Mutation_p.S203P|SLC24A1_uc010ujh.1_Missense_Mutation_p.S203P	p.S203P	NM_004727	NP_004718	O60721	NCKX1_HUMAN			2	894	+			203			Extracellular (Potential).		O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.607T>C	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.968209	0.34754	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.65549	0.06;-0.16;1.97;1.97;-0.16;1.97	4.49	-8.98	0.00754	.	2.256920	0.01936	N	0.041581	T	0.31918	0.0812	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.001;0.0;0.002;0.001	B;B;B;B;B	0.09377	0.004;0.002;0.001;0.004;0.002	T	0.30707	-0.9969	10	0.44086	T	0.13	.	4.0546	0.09811	0.3038:0.4489:0.1025:0.1448	.	203;203;203;203;203	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	P	203	ENSP00000439693:S203P;ENSP00000261892:S203P;ENSP00000341837:S203P;ENSP00000445163:S203P;ENSP00000381991:S203P;ENSP00000439190:S203P	ENSP00000261892:S203P	S	+	1	0	SLC24A1	63704078	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.370000	0.02575	-2.640000	0.00429	-0.250000	0.11733	TCC		PASS	0.478	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	25	9	25	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66729115	66729115	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:66729115G>A	ENST00000307102.5	+	3	854	c.323G>A	c.(322-324)cGg>cAg	p.R108Q		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)	p.R108Q(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCCGCAATCCGGAACCAGATC	0.473																																						uc010bhq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(322-324)CGG>CAG		mitogen-activated protein kinase kinase 1							110.0	91.0	97.0					15																	66729115		2201	4299	6500	SO:0001583	missense	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729115G>A	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.323G>A	15.37:g.66729115G>A	ENSP00000302486:p.Arg108Gln					MAP2K1_uc010ujp.1_Missense_Mutation_p.R86Q	p.R108Q	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			3	798	+			108			Protein kinase.			Missense_Mutation	SNP	ENST00000307102.5	37	c.323G>A	CCDS10216.1	.	.	.	.	.	.	.	.	.	.	G	36	5.831391	0.97003	.	.	ENSG00000169032	ENST00000307102	D	0.92048	-2.96	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91432	0.7296	N	0.17764	0.52	0.80722	D	1	D;P	0.63046	0.992;0.95	P;P	0.61592	0.891;0.687	D	0.89410	0.3702	10	0.19147	T	0.46	-22.9215	18.4083	0.90542	0.0:0.0:1.0:0.0	.	86;108	B4DFY5;Q02750	.;MP2K1_HUMAN	Q	108	ENSP00000302486:R108Q	ENSP00000302486:R108Q	R	+	2	0	MAP2K1	64516169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.677000	0.98645	2.328000	0.79073	0.655000	0.94253	CGG		PASS	0.473	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			45	108	45	108	---	---	---	---
TBC1D2B	23102	broad.mit.edu	37	15	78305451	78305451	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr15:78305451C>T	ENST00000300584.3	-	9	1983	c.1984G>A	c.(1984-1986)Ggc>Agc	p.G662S	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.G662S	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	662	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)	p.G662S(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TGGGGAATGCCCGCACGGATG	0.527																																						uc002bcy.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1984-1986)GGC>AGC		TBC1 domain family, member 2B isoform a							108.0	96.0	100.0					15																	78305451		2196	4293	6489	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78305451C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.1984G>A	15.37:g.78305451C>T	ENSP00000300584:p.Gly662Ser					TBC1D2B_uc010bla.2_Missense_Mutation_p.G662S|TBC1D2B_uc002bda.2_Missense_Mutation_p.G114S	p.G662S	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN			9	1984	-			662			Rab-GAP TBC.		A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.1984G>A	CCDS45314.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407813	0.83340	.	.	ENSG00000167202	ENST00000409931;ENST00000300584	T;T	0.11604	2.76;2.76	5.47	5.47	0.80525	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.55178	0.1904	H	0.99182	4.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.75622	-0.3254	10	0.87932	D	0	.	18.6826	0.91551	0.0:1.0:0.0:0.0	.	662;114;662	Q9UPU7-2;Q9UPU7-3;Q9UPU7	.;.;TBD2B_HUMAN	S	662	ENSP00000387165:G662S;ENSP00000300584:G662S	ENSP00000300584:G662S	G	-	1	0	TBC1D2B	76092506	1.000000	0.71417	0.955000	0.39395	0.236000	0.25371	7.631000	0.83237	2.723000	0.93209	0.655000	0.94253	GGC		PASS	0.527	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		36	91	36	91	---	---	---	---
MEFV	4210	broad.mit.edu	37	16	3293241	3293241	+	Missense_Mutation	SNP	G	G	C	rs104895171		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:3293241G>C	ENST00000219596.1	-	10	2285	c.2246C>G	c.(2245-2247)tCt>tGt	p.S749C	MEFV_ENST00000536379.1_Missense_Mutation_p.S538C|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.S569C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	749	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.S749C(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						AAGGGGCCCAGAGAAAGAGCA	0.532																																						uc002cun.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6	GRCh37	CM077598	MEFV	M	rs104895171	c.(2245-2247)TCT>TGT		Mediterranean fever protein	Colchicine(DB01394)	G	CYS/SER,	0,4394		0,0,2197	96.0	92.0	93.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2246,	5.1	0.1	16	dbSNP_132	93	2,8598	2.2+/-6.3	0,2,4298	yes	missense,utr-3	MEFV	NM_000243.2,NM_001198536.1	112,	0,2,6495	CC,CG,GG		0.0233,0.0,0.0154	probably-damaging,	749/782,	3293241	2,12992	2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293241G>C	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2246C>G	16.37:g.3293241G>C	ENSP00000219596:p.Ser749Cys						p.S749C	NM_000243	NP_000234	O15553	MEFV_HUMAN			10	2286	-			749			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.2246C>G	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	8.031	0.761733	0.15914	0.0	2.33E-4	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.64085	-0.08;-0.08;-0.08	5.07	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.155525	0.30556	N	0.009363	T	0.72890	0.3517	M	0.88979	2.995	0.32630	N	0.522081	P	0.47484	0.896	P	0.45946	0.498	T	0.83017	-0.0169	10	0.52906	T	0.07	-22.6481	16.3405	0.83080	0.0:0.0:1.0:0.0	.	749	O15553	MEFV_HUMAN	C	749;569;538	ENSP00000219596:S749C;ENSP00000339639:S569C;ENSP00000445079:S538C	ENSP00000219596:S749C	S	-	2	0	MEFV	3233242	0.117000	0.22190	0.109000	0.21407	0.008000	0.06430	1.461000	0.35255	2.798000	0.96311	0.650000	0.86243	TCT		PASS	0.532	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		46	108	46	108	---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4835825	4835825	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:4835825C>G	ENST00000268231.8	-	4	620	c.357G>C	c.(355-357)caG>caC	p.Q119H	SEPT12_ENST00000591861.1_5'UTR|SMIM22_ENST00000589327.1_5'Flank|SMIM22_ENST00000589721.1_5'Flank|SEPT12_ENST00000396693.5_Missense_Mutation_p.Q119H	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	119	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.Q119H(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CATTGTTGATCTGGTCCCCGA	0.527																																						uc002cxq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(355-357)CAG>CAC		septin 12 isoform 2							77.0	73.0	74.0					16																	4835825		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4835825C>G	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.357G>C	16.37:g.4835825C>G	ENSP00000268231:p.Gln119His					SEPT12_uc002cxr.2_Missense_Mutation_p.Q119H|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank	p.Q119H	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			4	498	-			119					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.357G>C	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852571	0.32699	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.79454	-1.27;0.67	4.61	1.62	0.23740	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.67625	2.065	0.43527	D	0.995802	B;B	0.24823	0.112;0.035	B;B	0.30943	0.075;0.122	T	0.63475	-0.6629	10	0.30854	T	0.27	.	8.9394	0.35720	0.0:0.7513:0.0:0.2487	.	119;119	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	H	119	ENSP00000379922:Q119H;ENSP00000268231:Q119H	ENSP00000268231:Q119H	Q	-	3	2	SEPT12	4775826	0.998000	0.40836	1.000000	0.80357	0.693000	0.40251	0.603000	0.24149	0.200000	0.20447	-0.476000	0.04901	CAG		PASS	0.527	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		24	88	24	88	---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20347982	20347982	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:20347982G>A	ENST00000570689.1	-	9	1954	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	UMOD_ENST00000424589.1_Missense_Mutation_p.P636L|UMOD_ENST00000396138.4_Missense_Mutation_p.P652L|UMOD_ENST00000396134.2_Missense_Mutation_p.P636L|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Missense_Mutation_p.P603L|UMOD_ENST00000396142.2_Missense_Mutation_p.P603L			P07911	UROM_HUMAN	uromodulin	603					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.P603L(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCGTGTGATGGGACCCAAGTT	0.532																																						uc002dgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1807-1809)CCC>CTC		uromodulin precursor							122.0	102.0	109.0					16																	20347982		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20347982G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1808C>T	16.37:g.20347982G>A	ENSP00000460548:p.Pro603Leu					UMOD_uc002dha.2_Missense_Mutation_p.P603L|UMOD_uc002dhb.2_Missense_Mutation_p.P636L	p.P603L	NM_003361	NP_003352	P07911	UROM_HUMAN			9	1937	-			603					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1808C>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824865	0.71143	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.91686	-2.89;-2.89;-2.86;-2.86	4.33	4.33	0.51752	.	0.000000	0.47093	D	0.000259	D	0.95236	0.8455	M	0.76574	2.34	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.95371	0.8464	10	0.87932	D	0	-28.0765	12.5472	0.56206	0.0:0.0:1.0:0.0	.	636;603	E9PEA4;P07911	.;UROM_HUMAN	L	603;636;636;603;581;603	ENSP00000379438:P636L;ENSP00000416346:P636L;ENSP00000306279:P603L;ENSP00000379446:P603L	ENSP00000306279:P603L	P	-	2	0	UMOD	20255483	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.080000	0.57620	2.370000	0.80446	0.655000	0.94253	CCC		PASS	0.532	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			26	83	26	83	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20975047	20975047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:20975047C>A	ENST00000261383.3	-	53	10158	c.10159G>T	c.(10159-10161)Gaa>Taa	p.E3387*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3387					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E3387*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGTAATTTCCTTCTTCTGT	0.517																																						uc010vbe.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(10159-10161)GAA>TAA		dynein, axonemal, heavy chain 3							93.0	77.0	82.0					16																	20975047		2201	4300	6501	SO:0001587	stop_gained	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975047C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10159G>T	16.37:g.20975047C>A	ENSP00000261383:p.Glu3387*					DNAH3_uc010vbd.1_Nonsense_Mutation_p.E822*	p.E3387*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	10159	-			3387					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	ENST00000261383.3	37	c.10159G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	47	13.151745	0.99723	.	.	ENSG00000158486	ENST00000261383	.	.	.	5.78	-4.21	0.03812	.	1.799460	0.02692	N	0.110722	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	10.8995	0.47043	0.0:0.4217:0.2803:0.298	.	.	.	.	X	3387	.	ENSP00000261383:E3387X	E	-	1	0	DNAH3	20882548	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.147000	0.10234	-0.486000	0.06744	-0.302000	0.09304	GAA		PASS	0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		43	95	43	95	---	---	---	---
COG7	91949	broad.mit.edu	37	16	23446017	23446017	+	Silent	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:23446017C>T	ENST00000307149.5	-	5	812	c.627G>A	c.(625-627)aaG>aaA	p.K209K		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	209					intracellular protein transport (GO:0006886)|protein glycosylation (GO:0006486)|protein localization to Golgi apparatus (GO:0034067)|protein localization to organelle (GO:0033365)|protein stabilization (GO:0050821)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.K209K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGTAAACACCTTCACAAACA	0.438											OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002dlo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(625-627)AAG>AAA		component of oligomeric golgi complex 7							97.0	87.0	91.0					16																	23446017		2197	4300	6497	SO:0001819	synonymous_variant	91949				intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:23446017C>T	AF070568	CCDS10610.1	16p12.2	2008-02-05			ENSG00000168434	ENSG00000168434		"""Components of oligomeric golgi complex"""	18622	protein-coding gene	gene with protein product		606978				11980916	Standard	NM_153603		Approved		uc002dlo.3	P83436	OTTHUMG00000094807	ENST00000307149.5:c.627G>A	16.37:g.23446017C>T			OREG0023684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	763		p.K209K	NM_153603	NP_705831	P83436	COG7_HUMAN		GBM - Glioblastoma multiforme(48;0.0401)	5	815	-			209					Q6UWU7	Silent	SNP	ENST00000307149.5	37	c.627G>A	CCDS10610.1																																																																																				PASS	0.438	COG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211625.1			16	69	16	69	---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30004662	30004662	+	Missense_Mutation	SNP	G	G	T	rs143991731	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:30004662G>T	ENST00000279392.3	-	7	2367	c.1537C>A	c.(1537-1539)Cct>Act	p.P513T	INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000564026.1_3'UTR|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	513					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.P513T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTCCTAAAGGGTTCCAGGCT	0.617																																						uc002dve.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1537-1539)CCT>ACT		HIRA interacting protein 3		G	THR/PRO	0,4394		0,0,2197	66.0	70.0	69.0		1537	3.0	1.0	16	dbSNP_134	69	6,8594	4.3+/-15.6	0,6,4294	yes	missense	HIRIP3	NM_003609.4	38	0,6,6491	TT,TG,GG		0.0698,0.0,0.0462	probably-damaging	513/557	30004662	6,12988	2197	4300	6497	SO:0001583	missense	8479				chromatin assembly or disassembly	nucleus	protein binding	g.chr16:30004662G>T	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.1537C>A	16.37:g.30004662G>T	ENSP00000279392:p.Pro513Thr					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_3'UTR	p.P513T	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN			7	1998	-			513					H3BSR3|O75707|O75708	Missense_Mutation	SNP	ENST00000279392.3	37	c.1537C>A	CCDS10664.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111364	0.77210	0.0	6.98E-4	ENSG00000149929	ENST00000279392;ENST00000352552	T	0.46451	0.87	5.02	3.05	0.35203	Histone chaperone domain CHZ (1);	0.189679	0.32401	N	0.006154	T	0.44180	0.1281	L	0.32530	0.975	0.80722	D	1	D	0.54601	0.967	P	0.58013	0.831	T	0.32666	-0.9898	10	0.59425	D	0.04	-3.3992	8.6332	0.33933	0.0848:0.1534:0.7618:0.0	.	513	Q9BW71	HIRP3_HUMAN	T	513;200	ENSP00000279392:P513T	ENSP00000279392:P513T	P	-	1	0	HIRIP3	29912163	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.027000	0.41078	0.705000	0.31890	-0.140000	0.14226	CCT		PASS	0.617	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	NM_003609		33	85	33	85	---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68155895	68155895	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:68155895G>C	ENST00000346183.3	+	2	133	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.E37Q|NFATC3_ENST00000349223.5_Missense_Mutation_p.E37Q|NFATC3_ENST00000575270.1_Missense_Mutation_p.E37Q|RP11-67A1.2_ENST00000548144.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	37					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E37Q(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CGTAGATCTTGAGCCAGATGA	0.353																																						uc002evo.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(109-111)GAG>CAG		nuclear factor of activated T-cells,							182.0	166.0	171.0					16																	68155895		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68155895G>C	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.109G>C	16.37:g.68155895G>C	ENSP00000300659:p.Glu37Gln					NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.E37Q|NFATC3_uc002evm.1_Missense_Mutation_p.E37Q|NFATC3_uc002evn.1_Missense_Mutation_p.E37Q|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	p.E37Q	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	2	319	+		Ovarian(137;0.0563)	37					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.109G>C	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257839	0.80246	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524	T;T;T	0.12255	2.7;2.7;2.7	5.28	5.28	0.74379	.	0.107030	0.64402	D	0.000007	T	0.37652	0.1011	M	0.72894	2.215	0.51767	D	0.99993	D;D;D;D	0.69078	0.967;0.997;0.967;0.967	P;D;P;P	0.64687	0.637;0.928;0.637;0.637	T	0.09796	-1.0658	10	0.66056	D	0.02	-7.9443	19.3348	0.94312	0.0:0.0:1.0:0.0	.	37;37;37;37	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	Q	37	ENSP00000264008:E37Q;ENSP00000300659:E37Q;ENSP00000331324:E37Q	ENSP00000331324:E37Q	E	+	1	0	NFATC3	66713396	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.406000	0.97321	2.642000	0.89623	0.558000	0.71614	GAG		PASS	0.353	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		93	723	93	723	---	---	---	---
VAC14	55697	broad.mit.edu	37	16	70818069	70818069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:70818069G>A	ENST00000261776.5	-	5	801	c.541C>T	c.(541-543)Cga>Tga	p.R181*		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	181					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.R181*(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				ATCCTCTCTCGCAACAAGGGG	0.542																																						uc002ezm.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(541-543)CGA>TGA		Vac14 homolog							106.0	81.0	89.0					16																	70818069		2198	4300	6498	SO:0001587	stop_gained	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70818069G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.541C>T	16.37:g.70818069G>A	ENSP00000261776:p.Arg181*					VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_Intron	p.R181*	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			5	799	-		Ovarian(137;0.0699)	181			HEAT 3.		B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Nonsense_Mutation	SNP	ENST00000261776.5	37	c.541C>T	CCDS10896.1	.	.	.	.	.	.	.	.	.	.	G	39	7.367350	0.98238	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.3044	14.6371	0.68696	0.0:0.0:0.8546:0.1454	.	.	.	.	X	181	.	ENSP00000261776:R181X	R	-	1	2	VAC14	69375570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.203000	0.51075	2.679000	0.91253	0.650000	0.86243	CGA		PASS	0.542	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		32	52	32	52	---	---	---	---
OSGIN1	29948	broad.mit.edu	37	16	83998920	83998920	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:83998920A>G	ENST00000343939.2	+	7	1374	c.991A>G	c.(991-993)Acg>Gcg	p.T331A	OSGIN1_ENST00000393306.1_Missense_Mutation_p.T248A|OSGIN1_ENST00000361711.3_Missense_Mutation_p.T248A			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	331					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.T331A(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGCCACAGGCACGTTCGACAG	0.701																																						uc002fha.2																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)ACG>GCG		oxidative stress induced growth inhibitor 1							27.0	31.0	30.0					16																	83998920		2199	4292	6491	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998920A>G	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.991A>G	16.37:g.83998920A>G	ENSP00000343376:p.Thr331Ala					OSGIN1_uc002fhb.2_Missense_Mutation_p.T248A|OSGIN1_uc002fhc.2_Missense_Mutation_p.T248A	p.T331A	NM_013370	NP_037502	Q9UJX0	OSGI1_HUMAN			7	1374	+			331					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.991A>G		.	.	.	.	.	.	.	.	.	.	A	15.05	2.717731	0.48622	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.69926	-0.44;-0.44;-0.44	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	N	0.20807	0.61	0.80722	D	1	P	0.35192	0.489	B	0.35770	0.21	T	0.52563	-0.8559	10	0.32370	T	0.25	0.0051	13.5248	0.61589	1.0:0.0:0.0:0.0	.	331	Q9UJX0	OSGI1_HUMAN	A	331;248;248	ENSP00000343376:T331A;ENSP00000355374:T248A;ENSP00000376983:T248A	ENSP00000343376:T331A	T	+	1	0	OSGIN1	82556421	1.000000	0.71417	0.928000	0.36995	0.520000	0.34377	3.733000	0.55029	1.794000	0.52575	0.383000	0.25322	ACG		PASS	0.701	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		16	23	16	23	---	---	---	---
GAS8	2622	broad.mit.edu	37	16	90109622	90109622	+	Missense_Mutation	SNP	C	C	A	rs555627699		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr16:90109622C>A	ENST00000268699.4	+	11	1428	c.1306C>A	c.(1306-1308)Cgc>Agc	p.R436S	URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Missense_Mutation_p.R411S	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	436					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.R436S(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CGACCTGCTGCGCACGTATGA	0.627																																						uc002fqi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1306-1308)CGC>AGC		growth arrest-specific 8							77.0	66.0	70.0					16																	90109622		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90109622C>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.1306C>A	16.37:g.90109622C>A	ENSP00000268699:p.Arg436Ser					GAS8_uc010vps.1_Missense_Mutation_p.R411S|GAS8_uc002fqh.2_Missense_Mutation_p.R353S|GAS8_uc010cjc.1_Missense_Mutation_p.R353S|GAS8_uc010vpw.1_Missense_Mutation_p.R353S|GAS8_uc002fqj.1_Missense_Mutation_p.R244S|LOC100130015_uc002fql.2_Intron|LOC100130015_uc010cjd.2_3'UTR	p.R436S	NM_001481	NP_001472	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	11	1428	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	436					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.1306C>A	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268462	0.40095	.	.	ENSG00000141013	ENST00000536122;ENST00000268699	T;T	0.32515	1.45;1.45	5.51	5.51	0.81932	.	0.370594	0.30464	N	0.009580	T	0.28995	0.0720	L	0.52364	1.645	0.32168	N	0.582019	B	0.23990	0.095	B	0.16722	0.016	T	0.20505	-1.0273	9	.	.	.	-14.6301	14.9354	0.70951	0.0:0.857:0.143:0.0	.	436	O95995	GAS8_HUMAN	S	411;436	ENSP00000440977:R411S;ENSP00000268699:R436S	.	R	+	1	0	GAS8	88637123	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	2.779000	0.47734	2.757000	0.94681	0.650000	0.86243	CGC		PASS	0.627	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			26	39	26	39	---	---	---	---
SPNS3	201305	broad.mit.edu	37	17	4352621	4352621	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:4352621G>T	ENST00000355530.2	+	7	1142	c.862G>T	c.(862-864)Gca>Tca	p.A288S	SPNS3_ENST00000333476.2_Missense_Mutation_p.A161S|SPNS3_ENST00000576069.1_Intron	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	288					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.A288S(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCTGCTCGAGGCACGCGTGGT	0.677																																						uc002fxt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(862-864)GCA>TCA		spinster homolog 3							64.0	56.0	59.0					17																	4352621		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4352621G>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.862G>T	17.37:g.4352621G>T	ENSP00000347721:p.Ala288Ser					SPNS3_uc002fxu.2_Missense_Mutation_p.A161S	p.A288S	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			7	906	+			288					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.862G>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	g	8.886	0.952849	0.18431	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58940	0.3;0.3	5.05	4.06	0.47325	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	L	0.48986	1.54	0.37407	D	0.913074	B;B	0.24963	0.115;0.014	B;B	0.28553	0.091;0.057	T	0.40869	-0.9540	10	0.15952	T	0.53	-23.9931	7.0964	0.25311	0.0927:0.0:0.7334:0.1739	.	161;288	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	S	288;161	ENSP00000347721:A288S;ENSP00000333207:A161S	ENSP00000333207:A161S	A	+	1	0	SPNS3	4299370	1.000000	0.71417	0.977000	0.42913	0.007000	0.05969	4.878000	0.63093	2.496000	0.84212	0.651000	0.88453	GCA		PASS	0.677	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		32	51	32	51	---	---	---	---
ZMYND15	84225	broad.mit.edu	37	17	4647727	4647727	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:4647727C>T	ENST00000433935.1	+	10	1705	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S	ZMYND15_ENST00000592813.1_Missense_Mutation_p.P511S|ZMYND15_ENST00000573751.2_Missense_Mutation_p.P550S|ZMYND15_ENST00000269289.6_Missense_Mutation_p.P511S	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	550					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P550S(1)|p.P511S(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TGGCCTGCCCCCCGAAAGCGA	0.597																																						uc002fyt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1531-1533)CCC>TCC		zinc finger, MYND-type containing 15 isoform 2							80.0	83.0	82.0					17																	4647727		2203	4300	6503	SO:0001583	missense	84225						zinc ion binding	g.chr17:4647727C>T	AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1648C>T	17.37:g.4647727C>T	ENSP00000391742:p.Pro550Ser					ZMYND15_uc002fyv.2_Missense_Mutation_p.P550S|ZMYND15_uc002fyu.2_Missense_Mutation_p.P550S	p.P511S	NM_032265	NP_115641	Q9H091	ZMY15_HUMAN			9	1570	+			511					B4DXY5|I3L296	Missense_Mutation	SNP	ENST00000433935.1	37	c.1531C>T	CCDS45584.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615431	0.66672	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.45276	0.9;1.01	5.32	5.32	0.75619	.	0.289632	0.28683	N	0.014490	T	0.39145	0.1067	L	0.38531	1.155	0.35058	D	0.761245	P;P	0.49447	0.924;0.813	B;B	0.43728	0.429;0.328	T	0.52185	-0.8609	10	0.49607	T	0.09	-1.8893	16.542	0.84395	0.0:1.0:0.0:0.0	.	550;511	B4DXY5;Q9H091	.;ZMY15_HUMAN	S	550;511	ENSP00000391742:P550S;ENSP00000269289:P511S	ENSP00000269289:P511S	P	+	1	0	ZMYND15	4594476	0.477000	0.25909	0.883000	0.34634	0.705000	0.40729	1.967000	0.40491	2.770000	0.95276	0.563000	0.77884	CCC		PASS	0.597	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439580.1	NM_032265		39	51	39	51	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	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	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	TGACTGCTTGTAGATGGCCAT	0.622		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		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(95)|p.Y163N(17)|p.Y163H(17)|p.Y163*(7)|p.0?(7)|p.Y163S(4)|p.Y163Y(3)|p.Y163fs*1(2)|p.Y163D(2)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(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	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							53.0	54.0	53.0					17																	7578442		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.chr17:7578442T>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.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	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.Y163C|TP53_uc002gih.2_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.1_Missense_Mutation_p.Y124C	p.Y163C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	682	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		PASS	0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	49	24	49	---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7907007	7907007	+	Silent	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:7907007C>A	ENST00000254854.4	+	2	792	c.642C>A	c.(640-642)tcC>tcA	p.S214S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	214					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.S214S(1)		skin(1)	1		Prostate(122;0.157)				CTGTCGCCTCCGTGACTTCCA	0.721																																						uc002gjt.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(640-642)TCC>TCA		guanylate cyclase 2D, membrane (retina-specific)							11.0	12.0	11.0					17																	7907007		2081	4112	6193	SO:0001819	synonymous_variant	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7907007C>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.642C>A	17.37:g.7907007C>A							p.S214S	NM_000180	NP_000171	Q02846	GUC2D_HUMAN			2	716	+		Prostate(122;0.157)	214			Extracellular (Potential).		Q6LEA7	Silent	SNP	ENST00000254854.4	37	c.642C>A	CCDS11127.1																																																																																				PASS	0.721	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			5	16	5	16	---	---	---	---
USP43	124739	broad.mit.edu	37	17	9586219	9586219	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:9586219G>C	ENST00000285199.7	+	7	1281	c.1185G>C	c.(1183-1185)gaG>gaC	p.E395D	USP43_ENST00000570475.1_Missense_Mutation_p.E395D|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	395	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.E396D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCCACAGTGAGAGCAAGGTGC	0.537																																						uc010cod.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1183-1185)GAG>GAC		ubiquitin specific protease 43							113.0	115.0	114.0					17																	9586219		1965	4150	6115	SO:0001583	missense	124739				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:9586219G>C	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1185G>C	17.37:g.9586219G>C	ENSP00000285199:p.Glu395Asp					USP43_uc002gma.3_Missense_Mutation_p.E84D|USP43_uc010vva.1_Missense_Mutation_p.E395D|USP43_uc010coe.2_Missense_Mutation_p.E192D	p.E395D	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN			7	1185	+			395					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1185G>C	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368717	0.42003	.	.	ENSG00000154914	ENST00000285199	T	0.10005	2.92	5.12	3.12	0.35913	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.515492	0.20125	N	0.098708	T	0.07863	0.0197	L	0.28344	0.845	0.33882	D	0.63628	P;B;B	0.35124	0.485;0.43;0.061	B;B;B	0.36922	0.236;0.152;0.063	T	0.33548	-0.9864	10	0.21540	T	0.41	-16.2762	8.7975	0.34887	0.0832:0.1511:0.7656:0.0	.	395;84;395	B7ZVX5;Q70EL4-3;Q70EL4	.;.;UBP43_HUMAN	D	395	ENSP00000285199:E395D	ENSP00000285199:E395D	E	+	3	2	USP43	9526944	0.998000	0.40836	0.954000	0.39281	0.959000	0.62525	0.968000	0.29357	0.747000	0.32809	-0.244000	0.11960	GAG		PASS	0.537	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		47	73	47	73	---	---	---	---
ZNF286A	57335	broad.mit.edu	37	17	15619583	15619583	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:15619583C>G	ENST00000464847.2	+	5	1098	c.545C>G	c.(544-546)tCa>tGa	p.S182*	ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Nonsense_Mutation_p.S182*|ZNF286A_ENST00000413242.2_Nonsense_Mutation_p.S182*|ZNF286A_ENST00000421016.1_Nonsense_Mutation_p.S182*|ZNF286A_ENST00000593105.1_Nonsense_Mutation_p.S172*|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000585171.1_Intron			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S182*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CACATGAATTCACTCTCTGAG	0.393																																						uc010cot.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(544-546)TCA>TGA		zinc finger protein 286							92.0	92.0	92.0					17																	15619583		2202	4297	6499	SO:0001587	stop_gained	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619583C>G	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.545C>G	17.37:g.15619583C>G	ENSP00000464218:p.Ser182*					ZNF286A_uc002goz.3_Nonsense_Mutation_p.S70*|ZNF286A_uc010vwa.1_Nonsense_Mutation_p.S182*|ZNF286A_uc002gpa.2_Nonsense_Mutation_p.S182*	p.S182*	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	6	941	+			182					B4DKF9|Q96JF3	Nonsense_Mutation	SNP	ENST00000464847.2	37	c.545C>G	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.048833	0.75846	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	.	.	.	3.53	3.53	0.40419	.	4.929810	0.00706	N	0.000805	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-0.063	13.3732	0.60725	0.0:1.0:0.0:0.0	.	.	.	.	X	182;172;182	.	ENSP00000435872:S182X	S	+	2	0	ZNF286A	15560308	0.208000	0.23494	0.905000	0.35620	0.242000	0.25591	2.866000	0.48420	2.253000	0.74438	0.650000	0.86243	TCA		PASS	0.393	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		46	96	46	96	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520409	33520409	+	Silent	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:33520409T>A	ENST00000297307.5	-	1	1003	c.918A>T	c.(916-918)gcA>gcT	p.A306A	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	306	EamA 2.					integral component of membrane (GO:0016021)		p.A306A(1)									TGTCAGAAGGTGCCACAGTCT	0.582																																						uc002hjd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(916-918)GCA>GCT		acyl-malonyl condensing enzyme 1							162.0	147.0	152.0					17																	33520409		2203	4300	6503	SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520409T>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.918A>T	17.37:g.33520409T>A							p.A306A	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	1004	-			306			DUF6 2.|Helical; (Potential).		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.918A>T	CCDS11293.1																																																																																				PASS	0.582	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		52	154	52	154	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38447371	38447371	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:38447371G>T	ENST00000209728.4	+	3	711	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	80					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.K80N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						AGCAAGGCAAGAAAGAGAATG	0.418																																						uc002huj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(238-240)AAG>AAT		cell division cycle 6 protein							191.0	175.0	181.0					17																	38447371		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38447371G>T	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.240G>T	17.37:g.38447371G>T	ENSP00000209728:p.Lys80Asn						p.K80N	NM_001254	NP_001245	Q99741	CDC6_HUMAN			3	450	+			80					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.240G>T	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647480	0.67358	.	.	ENSG00000094804	ENST00000209728	T	0.55413	0.52	5.53	5.53	0.82687	.	0.413754	0.26510	N	0.023961	T	0.53594	0.1806	L	0.53249	1.67	0.41741	D	0.989618	P	0.46706	0.883	P	0.47402	0.546	T	0.54330	-0.8310	10	0.46703	T	0.11	-19.8197	10.7953	0.46457	0.0866:0.0:0.9134:0.0	.	80	Q99741	CDC6_HUMAN	N	80	ENSP00000209728:K80N	ENSP00000209728:K80N	K	+	3	2	CDC6	35700897	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.256000	0.58810	2.763000	0.94921	0.561000	0.74099	AAG		PASS	0.418	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			71	203	71	203	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40858079	40858079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:40858079C>T	ENST00000428826.2	-	16	1906	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*	EZH1_ENST00000585893.1_Nonsense_Mutation_p.W555*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.W586*|EZH1_ENST00000592743.1_Nonsense_Mutation_p.W595*|EZH1_ENST00000590078.1_Nonsense_Mutation_p.W525*|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000435174.1_Nonsense_Mutation_p.W456*			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	595	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.			ASEHWDCKVVSC -> PQSTGTARWFPV (in Ref. 2; BAA25019). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)	p.W595*(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTGCAGTCCCAGTGCTCTG	0.537																																						uc002iaz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(1783-1785)TGG>TGA		enhancer of zeste homolog 1							122.0	92.0	102.0					17																	40858079		2203	4300	6503	SO:0001587	stop_gained	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40858079C>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1785G>A	17.37:g.40858079C>T	ENSP00000404658:p.Trp595*					EZH1_uc002iba.2_Nonsense_Mutation_p.W586*|EZH1_uc010wgt.1_Nonsense_Mutation_p.W525*|EZH1_uc010wgu.1_Nonsense_Mutation_p.W601*|EZH1_uc010wgv.1_Nonsense_Mutation_p.W555*|EZH1_uc010wgw.1_Nonsense_Mutation_p.W456*|EZH1_uc010cyp.2_Nonsense_Mutation_p.W496*|EZH1_uc010cyq.2_Nonsense_Mutation_p.W512*|EZH1_uc010cyo.1_Nonsense_Mutation_p.W258*	p.W595*	NM_001991	NP_001982	Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	16	1930	-		Breast(137;0.00104)	595	ASEHWDCKVVSC -> PQSTGTARWFPV (in Ref. 2; BAA25019).		Cys-rich.		A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Nonsense_Mutation	SNP	ENST00000428826.2	37	c.1785G>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	40	8.126008	0.98667	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.2056	0.93729	0.0:1.0:0.0:0.0	.	.	.	.	X	598;595;555;456	.	ENSP00000264646:W598X	W	-	3	0	EZH1	38111605	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.647000	0.83462	2.761000	0.94854	0.655000	0.94253	TGG		PASS	0.537	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		23	44	23	44	---	---	---	---
KIF18B	146909	broad.mit.edu	37	17	43012642	43012642	+	Silent	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:43012642G>C	ENST00000593135.1	-	3	553	c.456C>G	c.(454-456)ctC>ctG	p.L152L	KIF18B_ENST00000590129.1_Silent_p.L161L|KIF18B_ENST00000438933.2_Silent_p.L152L|KIF18B_ENST00000339151.4_Silent_p.L152L|KIF18B_ENST00000587309.1_Silent_p.L152L	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	161	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.L152L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGTAGCTGATGAGCACCTCGA	0.652																																						uc010wji.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(454-456)CTC>CTG		kinesin family member 18B							37.0	43.0	41.0					17																	43012642		1994	4153	6147	SO:0001819	synonymous_variant	146909							g.chr17:43012642G>C		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.456C>G	17.37:g.43012642G>C						KIF18B_uc002iht.2_Silent_p.L152L|KIF18B_uc010wjh.1_Silent_p.L152L	p.L152L	NM_001080443	NP_001073912					3	557	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Silent	SNP	ENST00000593135.1	37	c.456C>G	CCDS45709.2																																																																																				PASS	0.652	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		11	12	11	12	---	---	---	---
KAT7	11143	broad.mit.edu	37	17	47875906	47875906	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:47875906G>A	ENST00000259021.4	+	4	846	c.566G>A	c.(565-567)gGc>gAc	p.G189D	KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000435742.2_Missense_Mutation_p.G33D|KAT7_ENST00000424009.2_Missense_Mutation_p.G189D|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000503935.2_Missense_Mutation_p.G33D	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	189					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G189D(1)									CCTACACCAGGCTGTAACTCT	0.493																																						uc002ipm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(565-567)GGC>GAC		MYST histone acetyltransferase 2							133.0	123.0	126.0					17																	47875906		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47875906G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.566G>A	17.37:g.47875906G>A	ENSP00000259021:p.Gly189Asp					MYST2_uc002ipl.1_Missense_Mutation_p.G189D|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Missense_Mutation_p.G33D|MYST2_uc010wme.1_Missense_Mutation_p.G33D	p.G189D	NM_007067	NP_008998	O95251	MYST2_HUMAN			4	692	+			189					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.566G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163163	0.94727	.	.	ENSG00000136504	ENST00000259021;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.77751	0.4177	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.967;1.0;0.962	T	0.77397	-0.2603	9	0.87932	D	0	-15.3025	20.2388	0.98366	0.0:0.0:1.0:0.0	.	182;189;189	B4DGY4;O95251;G5E9K7	.;KAT7_HUMAN;.	D	189;189;33;33	.	ENSP00000259021:G189D	G	+	2	0	KAT7	45230905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.890000	0.99128	0.650000	0.86243	GGC		PASS	0.493	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		60	182	60	182	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48269169	48269169	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:48269169G>T	ENST00000225964.5	-	31	2225	c.2107C>A	c.(2107-2109)Ccc>Acc	p.P703T		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	703	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P703T(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TCGTTGCCGGGAGCACCGTTG	0.677			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - Missense(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2107-2109)CCC>ACC		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						31.0	32.0	32.0					17																	48269169		2202	4299	6501	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48269169G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2107C>A	17.37:g.48269169G>T	ENSP00000225964:p.Pro703Thr						p.P703T	NM_000088	NP_000079	P02452	CO1A1_HUMAN			31	2233	-			703			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.2107C>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536234	0.64972	.	.	ENSG00000108821	ENST00000225964	D	0.96651	-4.08	5.3	4.33	0.51752	.	0.148813	0.44483	D	0.000445	D	0.95834	0.8644	L	0.42632	1.34	0.43368	D	0.995454	P	0.48350	0.909	P	0.54346	0.749	D	0.95483	0.8562	10	0.59425	D	0.04	.	12.7228	0.57152	0.0806:0.0:0.9194:0.0	.	703	P02452	CO1A1_HUMAN	T	703	ENSP00000225964:P703T	ENSP00000225964:P703T	P	-	1	0	COL1A1	45624168	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	2.439000	0.44846	1.240000	0.43803	0.563000	0.77884	CCC		PASS	0.677	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			6	11	6	11	---	---	---	---
GH2	2689	broad.mit.edu	37	17	61958203	61958203	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:61958203A>G	ENST00000423893.2	-	4	446	c.385T>C	c.(385-387)Tat>Cat	p.Y129H	GH2_ENST00000449787.2_Missense_Mutation_p.Y114H|GH2_ENST00000456543.2_Missense_Mutation_p.Y129H|GH2_ENST00000332800.7_Missense_Mutation_p.Y129H			P01242	SOM2_HUMAN	growth hormone 2	129					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.Y129H(2)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGGCGCCATACACCAGGCTG	0.612																																						uc002jco.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|pancreas(1)	3						c.(385-387)TAT>CAT		growth hormone 2 isoform 1							68.0	67.0	67.0					17																	61958203		2203	4300	6503	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61958203A>G	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.385T>C	17.37:g.61958203A>G	ENSP00000409294:p.Tyr129His					GH2_uc002jcj.2_Missense_Mutation_p.Y129H|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Missense_Mutation_p.Y129H|GH2_uc002jcm.1_Missense_Mutation_p.Y129H|GH2_uc002jcn.1_Missense_Mutation_p.Y114H	p.Y129H	NM_002059	NP_002050	P01242	SOM2_HUMAN			4	447	-			129					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.385T>C	CCDS11647.1	.	.	.	.	.	.	.	.	.	.	a	0.371	-0.933805	0.02340	.	.	ENSG00000136487	ENST00000332800;ENST00000456543;ENST00000423893;ENST00000449787	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	3.1	0.79	0.18613	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.198313	0.42548	D	0.000694	D	0.82527	0.5056	N	0.04320	-0.23	0.19300	N	0.999979	P;D;B;B;P	0.67145	0.956;0.996;0.031;0.21;0.956	P;D;B;B;P	0.80764	0.904;0.994;0.042;0.136;0.904	T	0.73805	-0.3867	10	0.19147	T	0.46	.	6.3399	0.21316	0.7808:0.0:0.2192:0.0	.	129;114;129;129;129	P01242;O14643;O14644;B1A4H7;B1A4H5	SOM2_HUMAN;.;.;.;.	H	129;129;129;114	ENSP00000333157:Y129H;ENSP00000394122:Y129H;ENSP00000409294:Y129H;ENSP00000410618:Y114H	ENSP00000333157:Y129H	Y	-	1	0	GH2	59311935	0.998000	0.40836	0.133000	0.22050	0.000000	0.00434	2.669000	0.46825	0.013000	0.14918	-0.619000	0.04042	TAT		PASS	0.612	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		38	96	38	96	---	---	---	---
LRRC37A3	374819	broad.mit.edu	37	17	62856606	62856606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr17:62856606G>A	ENST00000584306.1	-	11	4188	c.3658C>T	c.(3658-3660)Cag>Tag	p.Q1220*	LRRC37A3_ENST00000400877.3_Nonsense_Mutation_p.Q258*|LRRC37A3_ENST00000319651.5_Nonsense_Mutation_p.Q1220*|LRRC37A3_ENST00000339474.5_Nonsense_Mutation_p.Q338*|LRRC37A3_ENST00000334962.5_Nonsense_Mutation_p.Q197*	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1220						integral component of membrane (GO:0016021)		p.Q1220*(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GGCCCCTGCTGTGTGTGAGGC	0.562																																						uc002jey.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3658-3660)CAG>TAG		leucine rich repeat containing 37, member A3							50.0	70.0	63.0					17																	62856606		2202	4299	6501	SO:0001587	stop_gained	374819					integral to membrane		g.chr17:62856606G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3658C>T	17.37:g.62856606G>A	ENSP00000464535:p.Gln1220*					LRRC37A3_uc010wqg.1_Nonsense_Mutation_p.Q338*|LRRC37A3_uc002jex.1_Nonsense_Mutation_p.Q197*|LRRC37A3_uc010wqf.1_Nonsense_Mutation_p.Q258*|LRRC37A3_uc010dek.1_Nonsense_Mutation_p.Q226*	p.Q1220*	NM_199340	NP_955372	O60309	L37A3_HUMAN			11	4189	-			1220			Extracellular (Potential).		Q49A01|Q49A80|Q8NB33	Nonsense_Mutation	SNP	ENST00000584306.1	37	c.3658C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	41	8.637195	0.98895	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	.	.	.	2.46	0.284	0.15701	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	3.8023	0.08763	0.0:0.5834:0.2575:0.159	.	.	.	.	X	301;258;197;1220	.	ENSP00000325713:Q1220X	Q	-	1	0	LRRC37A3	60287068	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.221000	0.09202	-0.022000	0.13986	-0.789000	0.03336	CAG		PASS	0.562	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		81	150	81	150	---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	5969427	5969427	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr18:5969427G>A	ENST00000284898.6	-	18	1806	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	L3MBTL4_ENST00000317931.7_Missense_Mutation_p.R527W|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.R536W|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.R340W	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	536					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R536W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGCTGGCCCGGATGTCAGCC	0.632																																					Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(1606-1608)CGG>TGG		l(3)mbt-like 4							43.0	53.0	50.0					18																	5969427		2133	4247	6380	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:5969427G>A	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1606C>T	18.37:g.5969427G>A	ENSP00000284898:p.Arg536Trp					L3MBTL4_uc010dkt.2_Missense_Mutation_p.R536W|L3MBTL4_uc002kmy.3_Missense_Mutation_p.R365W	p.R536W	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			18	1766	-		Colorectal(10;0.0249)	536					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.1606C>T	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	12.23	1.877021	0.33162	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782	T;T;T;T	0.15256	2.44;2.46;2.44;2.46	5.66	5.66	0.87406	Sterile alpha motif/pointed domain (2);	0.630387	0.14722	N	0.302244	T	0.13500	0.0327	N	0.08118	0	0.27093	N	0.962802	P;P	0.47841	0.84;0.901	B;P	0.44990	0.339;0.466	T	0.12167	-1.0558	10	0.66056	D	0.02	.	15.2504	0.73539	0.0:0.0:1.0:0.0	.	536;527	Q8NA19;F8W9S8	LMBL4_HUMAN;.	W	536;527;536;340	ENSP00000382976:R536W;ENSP00000318543:R527W;ENSP00000284898:R536W;ENSP00000444774:R340W	ENSP00000284898:R536W	R	-	1	2	L3MBTL4	5959427	0.978000	0.34361	0.726000	0.30738	0.053000	0.15095	2.396000	0.44468	2.648000	0.89879	0.655000	0.94253	CGG		PASS	0.632	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		22	29	22	29	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14105546	14105546	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr18:14105546T>A	ENST00000590202.1	-	3	1145	c.993A>T	c.(991-993)agA>agT	p.R331S	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	331					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R331S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGTATGAGCCTCTGTTAAAAG	0.423																																						uc002kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(991-993)AGA>AGT		zinc finger protein 519							96.0	98.0	97.0					18																	14105546		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105546T>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.993A>T	18.37:g.14105546T>A	ENSP00000464872:p.Arg331Ser					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.R331S	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	1146	-			331			C2H2-type 3.			Missense_Mutation	SNP	ENST00000590202.1	37	c.993A>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	T	0.361	-0.939345	0.02322	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14787	0.0357	N	0.12663	0.25	0.09310	N	1	B	0.26547	0.152	B	0.22601	0.04	T	0.19811	-1.0294	8	0.25106	T	0.35	.	1.4114	0.02292	0.3255:0.2698:0.0:0.4047	.	331	Q8TB69	ZN519_HUMAN	S	331	.	ENSP00000307908:R331S	R	-	3	2	ZNF519	14095546	0.000000	0.05858	0.000000	0.03702	0.531000	0.34715	-3.484000	0.00455	-0.737000	0.04824	0.076000	0.15429	AGA		PASS	0.423	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		75	212	75	212	---	---	---	---
CTAGE1	64693	broad.mit.edu	37	18	19997754	19997754	+	5'Flank	SNP	A	A	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr18:19997754A>C	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.P7P			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.P7P(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GAAAACCATAAGGATGAGAAT	0.498																																						uc002ktv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(19-21)CCT>CCG		cutaneous T-cell lymphoma-associated antigen 1							86.0	77.0	80.0					18																	19997754		2203	4300	6503	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997754A>C	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997754A>C	Exception_encountered						p.P7P	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	125	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		7					B0YIZ3	Silent	SNP	ENST00000525417.1	37	c.21T>G																																																																																					PASS	0.498	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		12	41	12	41	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63511180	63511180	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr18:63511180G>T	ENST00000397968.2	+	7	1540	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	CDH7_ENST00000323011.3_Missense_Mutation_p.D372Y|CDH7_ENST00000536984.2_Missense_Mutation_p.D372Y	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	372	Cadherin 3. {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.D372Y(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAAGATGTAGATGAGCCCCC	0.502																																						uc002ljz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(1114-1116)GAT>TAT		cadherin 7, type 2 preproprotein							194.0	160.0	172.0					18																	63511180		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63511180G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1114G>T	18.37:g.63511180G>T	ENSP00000381058:p.Asp372Tyr					CDH7_uc002lka.2_Missense_Mutation_p.D372Y|CDH7_uc002lkb.2_Missense_Mutation_p.D372Y	p.D372Y	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			7	1439	+		Esophageal squamous(42;0.129)	372			Extracellular (Potential).|Cadherin 3.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1114G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752598	0.69533	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.62941	-0.01;-0.01;-0.01	4.67	4.67	0.58626	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	H	0.99058	4.415	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.74348	0.983;0.903	D	0.92949	0.6379	10	0.87932	D	0	.	18.1055	0.89519	0.0:0.0:1.0:0.0	.	372;372	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Y	372	ENSP00000319166:D372Y;ENSP00000443030:D372Y;ENSP00000381058:D372Y	ENSP00000319166:D372Y	D	+	1	0	CDH7	61662160	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	5.105000	0.64591	2.554000	0.86153	0.655000	0.94253	GAT		PASS	0.502	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		48	77	48	77	---	---	---	---
SIRT6	51548	broad.mit.edu	37	19	4179213	4179213	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:4179213C>A	ENST00000337491.2	-	3	329	c.265G>T	c.(265-267)Gcg>Tcg	p.A89S	SIRT6_ENST00000601488.1_Intron|SIRT6_ENST00000305232.6_Missense_Mutation_p.A89S|SIRT6_ENST00000381935.3_Missense_Mutation_p.A17S|SIRT6_ENST00000594279.1_Missense_Mutation_p.A17S	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	89	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)	p.A89S(1)		central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGCCGCGCGCTCTCAAAG	0.682																																						uc002lzo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(265-267)GCG>TCG		sirtuin 6							28.0	22.0	24.0					19																	4179213		2200	4300	6500	SO:0001583	missense	51548				chromatin silencing|protein ADP-ribosylation	nuclear telomeric heterochromatin|nucleoplasm	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr19:4179213C>A	AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.265G>T	19.37:g.4179213C>A	ENSP00000337332:p.Ala89Ser					SIRT6_uc002lzn.2_Missense_Mutation_p.A17S|SIRT6_uc002lzp.2_Intron|SIRT6_uc010xid.1_Missense_Mutation_p.A17S|SIRT6_uc002lzq.2_Missense_Mutation_p.A89S|SIRT6_uc002lzr.2_Missense_Mutation_p.A17S	p.A89S	NM_016539	NP_057623	Q8N6T7	SIRT6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)	3	325	-		Hepatocellular(1079;0.137)	89			Deacetylase sirtuin-type.		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	ENST00000337491.2	37	c.265G>T	CCDS12122.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666531	0.88251	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.22336	1.96;1.96;1.96	4.97	4.97	0.65823	.	0.053596	0.64402	D	0.000001	T	0.58148	0.2102	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.97110	0.979;1.0;0.998	T	0.70960	-0.4730	10	0.72032	D	0.01	-19.3307	16.8028	0.85618	0.0:1.0:0.0:0.0	.	89;89;17	Q8N6T7-2;Q8N6T7;B7Z5U1	.;SIRT6_HUMAN;.	S	89;89;17	ENSP00000337332:A89S;ENSP00000305310:A89S;ENSP00000371360:A17S	ENSP00000305310:A89S	A	-	1	0	SIRT6	4130213	1.000000	0.71417	0.170000	0.22879	0.979000	0.70002	7.239000	0.78182	2.317000	0.78254	0.555000	0.69702	GCG		PASS	0.682	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457931.2			3	17	3	17	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9057422	9057422	+	Silent	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:9057422T>C	ENST00000397910.4	-	3	30227	c.30024A>G	c.(30022-30024)tcA>tcG	p.S10008S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10010	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.S5641S(1)|p.S10008S(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						AGCTCTTCCATGATGGATTTT	0.453																																						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.(30022-30024)TCA>TCG		mucin 16							80.0	79.0	79.0					19																	9057422		1924	4134	6058	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057422T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30024A>G	19.37:g.9057422T>C							p.S10008S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30228	-			10010			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.30024A>G	CCDS54212.1																																																																																				PASS	0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		52	279	52	279	---	---	---	---
ANGPTL6	83854	broad.mit.edu	37	19	10203304	10203304	+	Silent	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:10203304G>C	ENST00000253109.4	-	6	1612	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	ANGPTL6_ENST00000592641.1_Silent_p.L458L|ANGPTL6_ENST00000589181.1_Silent_p.L418L|C19orf66_ENST00000591813.1_3'UTR|CTD-2240E14.4_ENST00000589622.1_RNA|C19orf66_ENST00000397881.3_3'UTR|C19orf66_ENST00000253110.11_3'UTR	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	458	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)		p.L458L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CGGCCTTCCTGAGAGAATATG	0.587																																						uc002mmx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1372-1374)CTC>CTG		angiopoietin-like 6 precursor							107.0	96.0	100.0					19																	10203304		2203	4300	6503	SO:0001819	synonymous_variant	83854				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding	g.chr19:10203304G>C	AB054064	CCDS12224.1	19p13.2	2013-02-06				ENSG00000130812		"""Fibrinogen C domain containing"""	23140	protein-coding gene	gene with protein product	"""angiopoietin-related protein 5"""	609336				12871997	Standard	NM_031917		Approved	ARP5, AGF	uc002mmy.1	Q8NI99		ENST00000253109.4:c.1374C>G	19.37:g.10203304G>C						C19orf66_uc002mmu.3_3'UTR|C19orf66_uc002mmv.3_3'UTR|C19orf66_uc002mmw.3_3'UTR|ANGPTL6_uc002mmy.1_Silent_p.L458L	p.L458L	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)		6	1492	-			458			Fibrinogen C-terminal.		A5PKV7|Q9BZZ0	Silent	SNP	ENST00000253109.4	37	c.1374C>G	CCDS12224.1																																																																																				PASS	0.587	ANGPTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451142.1	NM_031917		29	247	29	247	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15365027	15365027	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:15365027G>C	ENST00000263377.2	-	11	2315	c.2094C>G	c.(2092-2094)ttC>ttG	p.F698L	BRD4_ENST00000360016.5_Missense_Mutation_p.F698L|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000371835.4_Missense_Mutation_p.F698L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	698	Ser-rich.				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.F698L(2)		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)			CTGAGGACGAGAAGCCCTTCA	0.552			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		2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2092-2094)TTC>TTG		bromodomain-containing protein 4 isoform long							89.0	78.0	82.0					19																	15365027		2203	4300	6503	SO:0001583	missense	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.chr19:15365027G>C	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.2094C>G	19.37:g.15365027G>C	ENSP00000263377:p.Phe698Leu					BRD4_uc002nas.2_Missense_Mutation_p.F698L|BRD4_uc002nat.3_Missense_Mutation_p.F698L	p.F698L	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)		11	2316	-			698			Ser-rich.		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.2094C>G	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080449	0.55753	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.38401	1.14;1.14;1.14	5.22	3.04	0.35103	.	0.000000	0.64402	D	0.000006	T	0.18923	0.0454	N	0.25647	0.755	0.31704	N	0.640359	P;B;B	0.35328	0.495;0.103;0.276	B;B;B	0.28849	0.095;0.058;0.066	T	0.16305	-1.0407	10	0.11182	T	0.66	-19.7308	9.1906	0.37197	0.2432:0.0:0.7568:0.0	.	698;698;698	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	698	ENSP00000263377:F698L;ENSP00000360901:F698L;ENSP00000353112:F698L	ENSP00000263377:F698L	F	-	3	2	BRD4	15226027	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.234000	0.43035	1.337000	0.45525	0.462000	0.41574	TTC		PASS	0.552	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		18	59	18	59	---	---	---	---
PGLS	25796	broad.mit.edu	37	19	17631857	17631857	+	Silent	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:17631857G>C	ENST00000252603.2	+	5	788	c.744G>C	c.(742-744)ctG>ctC	p.L248L	FAM129C_ENST00000335393.4_5'Flank|CTD-3131K8.3_ENST00000596192.1_RNA|FAM129C_ENST00000595684.1_5'Flank|FAM129C_ENST00000352727.3_5'Flank|FAM129C_ENST00000332386.5_5'Flank|FAM129C_ENST00000300971.2_5'Flank	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	248					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)	p.L248L(1)		endometrium(1)|lung(1)	2						CCCGCCTCCTGACCGTGCCCT	0.692																																						uc002ngw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(742-744)CTG>CTC		6-phosphogluconolactonase							17.0	17.0	17.0					19																	17631857		2200	4293	6493	SO:0001819	synonymous_variant	25796					cytosol	6-phosphogluconolactonase activity	g.chr19:17631857G>C	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.744G>C	19.37:g.17631857G>C						FAM129C_uc010xpq.1_5'Flank|FAM129C_uc010xpr.1_5'Flank	p.L248L	NM_012088	NP_036220	O95336	6PGL_HUMAN			5	794	+			248						Silent	SNP	ENST00000252603.2	37	c.744G>C	CCDS12361.1																																																																																				PASS	0.692	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464154.1			4	15	4	15	---	---	---	---
WDR88	126248	broad.mit.edu	37	19	33663274	33663274	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:33663274G>C	ENST00000355868.3	+	10	1246	c.1170G>C	c.(1168-1170)tgG>tgC	p.W390C	WDR88_ENST00000361680.2_Missense_Mutation_p.W390C	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	390								p.W390C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TGAGACTGTGGAATATTGAAG	0.383																																						uc002nui.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1168-1170)TGG>TGC		PQQ repeat and WD repeat domain containing							128.0	128.0	128.0					19																	33663274		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33663274G>C	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.1170G>C	19.37:g.33663274G>C	ENSP00000348129:p.Trp390Cys						p.W390C	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN			10	1248	+	Esophageal squamous(110;0.137)		390			WD 7.		Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.1170G>C	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345960	0.41599	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	D;D	0.83506	-1.73;-1.73	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93612	0.7960	H	0.94620	3.56	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.94963	0.8110	10	0.87932	D	0	.	16.411	0.83712	0.0:0.0:1.0:0.0	.	390	Q6ZMY6	WDR88_HUMAN	C	390	ENSP00000348129:W390C;ENSP00000355148:W390C	ENSP00000348129:W390C	W	+	3	0	WDR88	38355114	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	5.003000	0.63959	2.660000	0.90430	0.313000	0.20887	TGG		PASS	0.383	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		39	140	39	140	---	---	---	---
ZNF461	92283	broad.mit.edu	37	19	37129562	37129562	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:37129562G>C	ENST00000588268.1	-	6	1912	c.1685C>G	c.(1684-1686)gCa>gGa	p.A562G	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.A539G	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	562					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A435G(1)|p.A562G(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTTCATGATGCTAGACTAGG	0.343																																						uc002oem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1684-1686)GCA>GGA		gonadotropin inducible transcription repressor							34.0	34.0	34.0					19																	37129562		1879	4112	5991	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129562G>C	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1685C>G	19.37:g.37129562G>C	ENSP00000467931:p.Ala562Gly					ZNF461_uc002oen.2_Missense_Mutation_p.A531G|ZNF461_uc010xtj.1_Missense_Mutation_p.A539G	p.A562G	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1913	-	Esophageal squamous(110;0.198)		562					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1685C>G	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722216	0.30503	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605	T	0.06068	3.35	2.38	-1.08	0.09936	.	.	.	.	.	T	0.03348	0.0097	N	0.25332	0.735	0.09310	N	1	B;B;B	0.30482	0.18;0.281;0.281	B;B;B	0.27170	0.048;0.077;0.077	T	0.46148	-0.9212	9	0.13108	T	0.6	.	3.0528	0.06174	0.2913:0.2339:0.4748:0.0	.	539;484;562	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	G	562;539;435	ENSP00000353515:A539G	ENSP00000353515:A539G	A	-	2	0	ZNF461	41821402	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.088000	0.11198	-0.124000	0.11724	-0.246000	0.11932	GCA		PASS	0.343	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		15	28	15	28	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41063074	41063074	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:41063074T>A	ENST00000352632.3	+	26	5521	c.5435T>A	c.(5434-5436)cTg>cAg	p.L1812Q	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L1812Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L1812Q|SPTBN4_ENST00000392025.1_Missense_Mutation_p.L555Q|SPTBN4_ENST00000392023.1_Missense_Mutation_p.L488Q|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L1812Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1812					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.L488Q(1)|p.L1812Q(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGGACGGACTGAACGAGGCC	0.642																																						uc002ony.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(5434-5436)CTG>CAG		spectrin, beta, non-erythrocytic 4 isoform							35.0	35.0	35.0					19																	41063074		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063074T>A	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5435T>A	19.37:g.41063074T>A	ENSP00000263373:p.Leu1812Gln					SPTBN4_uc002onx.2_Missense_Mutation_p.L1812Q|SPTBN4_uc002onz.2_Missense_Mutation_p.L1812Q|SPTBN4_uc010egx.2_Missense_Mutation_p.L555Q|SPTBN4_uc002ooa.2_Missense_Mutation_p.L488Q	p.L1812Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5521	+			1812			Spectrin 15.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.5435T>A	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942677	0.73672	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	3.49	3.49	0.39957	.	0.118101	0.36200	N	0.002738	T	0.80844	0.4701	M	0.90082	3.085	0.42234	D	0.991902	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.973;0.994;0.955;0.996	D	0.84616	0.0681	10	0.87932	D	0	.	11.4128	0.49935	0.0:0.0:0.0:1.0	.	555;488;1812;1812	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	Q	1812;1812;1812;555;488	ENSP00000263373:L1812Q;ENSP00000340345:L1812Q;ENSP00000375879:L555Q;ENSP00000375877:L488Q	ENSP00000340345:L1812Q	L	+	2	0	SPTBN4	45754914	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.613000	0.82986	1.585000	0.49928	0.374000	0.22700	CTG		PASS	0.642	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			7	27	7	27	---	---	---	---
EMP3	2014	broad.mit.edu	37	19	48830165	48830165	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:48830165G>A	ENST00000270221.6	+	2	365	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	EMP3_ENST00000596315.1_Intron|EMP3_ENST00000597279.1_Missense_Mutation_p.A22T	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	22					cell growth (GO:0016049)|negative regulation of cell proliferation (GO:0008285)	integral component of membrane (GO:0016021)		p.A22T(1)		lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCTTTTCGTGGCCACTTTGGA	0.577																																						uc002piv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GCC>ACC		epithelial membrane protein 3							251.0	217.0	228.0					19																	48830165		2203	4300	6503	SO:0001583	missense	2014				cell growth|negative regulation of cell proliferation	integral to membrane		g.chr19:48830165G>A	U52101	CCDS12715.1	19q13.3	2008-07-16				ENSG00000142227			3335	protein-coding gene	gene with protein product		602335				8996089, 10331954	Standard	NM_001425		Approved	YMP	uc002piv.2	P54852		ENST00000270221.6:c.64G>A	19.37:g.48830165G>A	ENSP00000270221:p.Ala22Thr						p.A22T	NM_001425	NP_001416	P54852	EMP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)	2	318	+		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)	22			Helical; (Potential).		Q6FH01	Missense_Mutation	SNP	ENST00000270221.6	37	c.64G>A	CCDS12715.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094960	0.76870	.	.	ENSG00000142227	ENST00000270221	D	0.90261	-2.64	3.91	2.87	0.33458	.	0.054642	0.64402	N	0.000001	D	0.88299	0.6399	M	0.72118	2.19	0.54753	D	0.999982	B	0.21753	0.06	B	0.21360	0.034	D	0.86340	0.1704	10	0.66056	D	0.02	.	9.6098	0.39657	0.1027:0.0:0.8973:0.0	.	22	P54852	EMP3_HUMAN	T	22	ENSP00000270221:A22T	ENSP00000270221:A22T	A	+	1	0	EMP3	53521977	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.391000	0.66266	1.222000	0.43521	0.650000	0.86243	GCC		PASS	0.577	EMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465613.1	NM_001425		83	219	83	219	---	---	---	---
KCNA7	3743	broad.mit.edu	37	19	49575579	49575579	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:49575579G>A	ENST00000221444.1	-	1	619	c.264C>T	c.(262-264)gtC>gtT	p.V88V		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	88					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V88V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CTTCCAGGAAGACGTCGAGCG	0.736																																					Colon(74;686 1235 3793 23366 48562)	uc002pmg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(262-264)GTC>GTT		potassium voltage-gated channel, shaker-related							8.0	10.0	9.0					19																	49575579		2066	4021	6087	SO:0001819	synonymous_variant	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575579G>A	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.264C>T	19.37:g.49575579G>A							p.V88V	NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	620	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	88					A1KYX7|Q9BYS4	Silent	SNP	ENST00000221444.1	37	c.264C>T	CCDS12755.1																																																																																				PASS	0.736	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		9	10	9	10	---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53056834	53056834	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:53056834A>T	ENST00000359798.4	+	5	845	c.665A>T	c.(664-666)cAg>cTg	p.Q222L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q222L(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CCACAAAAACAGGAAGTACAC	0.383																																						uc010epq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(664-666)CAG>CTG		zinc finger protein 808							125.0	133.0	130.0					19																	53056834		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53056834A>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.665A>T	19.37:g.53056834A>T	ENSP00000352846:p.Gln222Leu					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.Q222L	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	842	+			222					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.665A>T	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	5.977	0.364203	0.11296	.	.	ENSG00000198482	ENST00000359798	T	0.15256	2.44	1.01	-0.0787	0.13714	.	.	.	.	.	T	0.15305	0.0369	M	0.63843	1.955	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31724	-0.9933	9	0.54805	T	0.06	.	3.0299	0.06103	0.7051:0.0:0.2949:0.0	.	222	Q8N4W9	ZN808_HUMAN	L	222	ENSP00000352846:Q222L	ENSP00000352846:Q222L	Q	+	2	0	ZNF808	57748646	0.007000	0.16637	0.001000	0.08648	0.021000	0.10359	0.488000	0.22371	-0.095000	0.12351	0.254000	0.18369	CAG		PASS	0.383	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		124	286	124	286	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640894	57640894	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:57640894A>T	ENST00000254181.4	+	4	1305	c.851A>T	c.(850-852)cAg>cTg	p.Q284L	USP29_ENST00000598197.1_Missense_Mutation_p.Q284L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	284					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.Q284L(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)		CAGCAACTGCAGCAGGGGTTC	0.458																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(850-852)CAG>CTG		ubiquitin specific peptidase 29							75.0	73.0	74.0					19																	57640894		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.chr19:57640894A>T		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.851A>T	19.37:g.57640894A>T	ENSP00000254181:p.Gln284Leu						p.Q284L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1207	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	284						Missense_Mutation	SNP	ENST00000254181.4	37	c.851A>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.783032	0.00634	.	.	ENSG00000131864	ENST00000254181	T	0.39406	1.08	2.68	-0.928	0.10448	.	3.571250	0.01651	N	0.024554	T	0.14270	0.0345	N	0.01424	-0.875	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.18366	-1.0339	10	0.07990	T	0.79	3.6465	2.2044	0.03932	0.3171:0.0:0.4372:0.2456	.	284	Q9HBJ7	UBP29_HUMAN	L	284	ENSP00000254181:Q284L	ENSP00000254181:Q284L	Q	+	2	0	USP29	62332706	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.654000	0.05354	-0.132000	0.11557	-0.472000	0.04984	CAG		PASS	0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			37	121	37	121	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58102492	58102492	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:58102492G>T	ENST00000597850.1	+	4	1528	c.1313G>T	c.(1312-1314)gGc>gTc	p.G438V	ZIK1_ENST00000599456.1_Missense_Mutation_p.G383V|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.G425V	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	438					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.G438V(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)		TATGAGTGTGGCCAGTGTGGA	0.458																																						uc002qpg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1312-1314)GGC>GTC		zinc finger protein interacting with K protein							71.0	64.0	67.0					19																	58102492		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58102492G>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.1313G>T	19.37:g.58102492G>T	ENSP00000472867:p.Gly438Val					ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Missense_Mutation_p.G383V|ZIK1_uc002qpi.2_Missense_Mutation_p.G425V|ZIK1_uc002qpj.2_Missense_Mutation_p.G335V	p.G438V	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	1410	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	438			C2H2-type 8.		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.1313G>T	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684733	0.29872	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.17854	2.25	3.36	-1.45	0.08828	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14184	0.0343	N	0.13043	0.29	0.09310	N	0.999999	P;P	0.49783	0.527;0.928	B;P	0.54965	0.354;0.765	T	0.19647	-1.0299	9	0.40728	T	0.16	.	4.7322	0.12970	0.5681:0.1748:0.257:0.0	.	425;438	F5H435;Q3SY52	.;ZIK1_HUMAN	V	425;391;438	ENSP00000438487:G425V	ENSP00000303820:G438V	G	+	2	0	ZIK1	62794304	0.000000	0.05858	0.011000	0.14972	0.991000	0.79684	-1.425000	0.02446	-0.146000	0.11274	0.650000	0.86243	GGC		PASS	0.458	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		24	69	24	69	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58579207	58579207	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr19:58579207C>T	ENST00000313434.5	+	5	1456	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000506786.1_Missense_Mutation_p.S410L|ZNF135_ENST00000439855.2_Missense_Mutation_p.S452L|ZNF135_ENST00000401053.4_Missense_Mutation_p.S476L|ZNF135_ENST00000511556.1_Missense_Mutation_p.S464L	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	452					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S476L(1)|p.S452L(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACAGCTCCTCACTCAGCCAG	0.567																																						uc010yhq.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1390-1392)TCA>TTA		zinc finger protein 135 isoform 2							83.0	76.0	78.0					19																	58579207		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579207C>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1355C>T	19.37:g.58579207C>T	ENSP00000321406:p.Ser452Leu					ZNF135_uc002qre.2_Missense_Mutation_p.S452L|ZNF135_uc002qrd.1_Intron|ZNF135_uc002qrf.2_Missense_Mutation_p.S410L|ZNF135_uc002qrg.2_Missense_Mutation_p.S422L|ZNF135_uc010yhr.1_Missense_Mutation_p.S273L	p.S464L	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1487	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	464					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1391C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.499|3.499	-0.102177|-0.102177	0.06967|0.06967	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000391699|ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.|T;T;T;T;T	.|0.15834	.|2.39;2.39;2.39;2.39;2.39	2.99|2.99	0.431|0.431	0.16523|0.16523	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.16342|0.16342	0.0393|0.0393	N|N	0.17594|0.17594	0.5|0.5	0.09310|0.09310	N|N	1|1	.|D;P	.|0.55800	.|0.973;0.909	.|P;P	.|0.58013	.|0.831;0.771	T|T	0.20371|0.20371	-1.0277|-1.0277	5|9	.|0.33141	.|T	.|0.24	.|.	5.7215|5.7215	0.17990|0.17990	0.5075:0.3224:0.1702:0.0|0.5075:0.3224:0.1702:0.0	.|.	.|464;452	.|E9PEV2;P52742	.|.;ZN135_HUMAN	Y|L	470|476;452;452;464;410	.|ENSP00000441410:S476L;ENSP00000444828:S452L;ENSP00000321406:S452L;ENSP00000422074:S464L;ENSP00000427691:S410L	.|ENSP00000321406:S452L	H|S	+|+	1|2	0|0	ZNF135|ZNF135	63271019|63271019	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	-0.868000|-0.868000	0.04236|0.04236	0.564000|0.564000	0.29238|0.29238	-0.321000|-0.321000	0.08615|0.08615	CAC|TCA		PASS	0.567	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		18	48	18	48	---	---	---	---
AHCY	191	broad.mit.edu	37	20	32873392	32873392	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr20:32873392C>T	ENST00000217426.2	-	9	1098	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Missense_Mutation_p.E313K	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	341					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)	p.E341K(1)		endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCGACCCTCGGCCAGCAGG	0.632																																						uc002xai.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GAG>AAG		adenosylhomocysteinase isoform 1							70.0	60.0	64.0					20																	32873392		2203	4300	6503	SO:0001583	missense	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32873392C>T	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1021G>A	20.37:g.32873392C>T	ENSP00000217426:p.Glu341Lys					AHCY_uc002xaj.2_Missense_Mutation_p.E313K	p.E341K	NM_000687	NP_000678	P23526	SAHH_HUMAN			9	1160	-			341					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Missense_Mutation	SNP	ENST00000217426.2	37	c.1021G>A	CCDS13233.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048724	0.75846	.	.	ENSG00000101444	ENST00000217426;ENST00000538132	T;T	0.80033	-1.33;-1.31	5.1	5.1	0.69264	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.88358	0.6415	M	0.90198	3.095	0.80722	D	1	D	0.53462	0.96	P	0.49683	0.619	D	0.90794	0.4689	10	0.62326	D	0.03	.	18.9626	0.92682	0.0:1.0:0.0:0.0	.	341	P23526	SAHH_HUMAN	K	341;313	ENSP00000217426:E341K;ENSP00000442820:E313K	ENSP00000217426:E341K	E	-	1	0	AHCY	32337053	1.000000	0.71417	0.985000	0.45067	0.735000	0.41995	7.783000	0.85696	2.563000	0.86464	0.650000	0.86243	GAG		PASS	0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		26	89	26	89	---	---	---	---
CTSA	5476	broad.mit.edu	37	20	44526355	44526355	+	Splice_Site	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr20:44526355G>C	ENST00000372459.2	+	12	1357		c.e12-1		CTSA_ENST00000191018.5_Splice_Site|CTSA_ENST00000354880.5_Splice_Site|CTSA_ENST00000372484.3_Splice_Site			P10619	PPGB_HUMAN	cathepsin A						glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)	p.?(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TCCTGCTTTAGAAATACCAGA	0.488																																						uc002xqj.3																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e13-1		cathepsin A isoform b precursor							84.0	81.0	82.0					20																	44526355		2203	4300	6503	SO:0001630	splice_region_variant	5476				intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity	g.chr20:44526355G>C	M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.1165-1G>C	20.37:g.44526355G>C						CTSA_uc002xqh.2_Splice_Site_p.K407_splice|CTSA_uc002xqi.2_Splice_Site|CTSA_uc010zxi.1_Splice_Site_p.K390_splice|CTSA_uc002xqk.3_Splice_Site_p.K389_splice	p.K389_splice	NM_001127695	NP_001121167	P10619	PPGB_HUMAN			13	1639	+		Myeloproliferative disorder(115;0.0122)						B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Splice_Site	SNP	ENST00000372459.2	37	c.1165_splice	CCDS46609.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283842	0.40394	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTSA	43959762	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	9.559000	0.98135	2.666000	0.90696	0.655000	0.94253	.		PASS	0.488	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471297.2	NM_000308	Intron	33	87	33	87	---	---	---	---
ZBP1	81030	broad.mit.edu	37	20	56185231	56185231	+	Missense_Mutation	SNP	C	C	A	rs77921447		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr20:56185231C>A	ENST00000371173.3	-	7	1244	c.1067G>T	c.(1066-1068)gGa>gTa	p.G356V	ZBP1_ENST00000340462.4_Missense_Mutation_p.G333V|ZBP1_ENST00000343535.4_Missense_Mutation_p.G356V|ZBP1_ENST00000395822.3_Missense_Mutation_p.G281V	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	356					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.G356V(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTCCCCCTCTCCAGACCCTGC	0.587																																						uc002xyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1066-1068)GGA>GTA		Z-DNA binding protein 1 isoform a							107.0	104.0	105.0					20																	56185231		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56185231C>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.1067G>T	20.37:g.56185231C>A	ENSP00000360215:p.Gly356Val					ZBP1_uc010gjm.2_Missense_Mutation_p.G355V|ZBP1_uc002xyp.2_Missense_Mutation_p.G281V	p.G356V	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		7	1348	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		356					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.1067G>T	CCDS13461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.59|11.59	1.682547|1.682547	0.29872|0.29872	.|.	.|.	ENSG00000124256|ENSG00000124256	ENST00000453793|ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	.|T;T;T;T	.|0.14766	.|2.85;2.48;2.85;2.92	3.5|3.5	-7.0|-7.0	0.01599|0.01599	.|.	.|1.006680	.|0.08000	.|N	.|0.988641	.|T	.|0.09468	.|0.0233	N|N	0.24115|0.24115	0.695|0.695	0.18873|0.18873	N|N	0.999986|0.999986	.|D;D;D	.|0.54964	.|0.969;0.969;0.969	.|P;P;P	.|0.47827	.|0.48;0.558;0.48	.|T	.|0.12967	.|-1.0527	.|10	.|0.59425	.|D	.|0.04	-1.28|-1.28	5.3271|5.3271	0.15913|0.15913	0.0:0.306:0.2609:0.4331|0.0:0.306:0.2609:0.4331	.|.	.|356;281;356	.|A2RRL9;A2A2F7;Q9H171	.|.;.;ZBP1_HUMAN	X|V	31|356;281;333;356;356	.|ENSP00000360215:G356V;ENSP00000379167:G281V;ENSP00000344954:G333V;ENSP00000340584:G356V	.|ENSP00000344954:G333V	E|G	-|-	1|2	0|0	ZBP1|ZBP1	55618637|55618637	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.094000|0.094000	0.18550|0.18550	-0.640000|-0.640000	0.05440|0.05440	-1.551000|-1.551000	0.01706|0.01706	0.491000|0.491000	0.48974|0.48974	GAG|GGA		PASS	0.587	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		67	167	67	167	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58348415	58348415	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr20:58348415C>A	ENST00000371015.1	+	6	1300	c.833C>A	c.(832-834)tCt>tAt	p.S278Y	PHACTR3_ENST00000395636.2_Missense_Mutation_p.S237Y|PHACTR3_ENST00000541461.1_Missense_Mutation_p.S237Y|PHACTR3_ENST00000395639.4_Missense_Mutation_p.S167Y|PHACTR3_ENST00000359926.3_Missense_Mutation_p.S275Y|PHACTR3_ENST00000355648.4_Missense_Mutation_p.S237Y|PHACTR3_ENST00000361300.4_Missense_Mutation_p.S167Y	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	278						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.S278Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCACGGGGTCTCCGCATCTC	0.672																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(832-834)TCT>TAT		phosphatase and actin regulator 3 isoform 1							78.0	70.0	72.0					20																	58348415		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348415C>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.833C>A	20.37:g.58348415C>A	ENSP00000360054:p.Ser278Tyr					PHACTR3_uc002yat.2_Missense_Mutation_p.S275Y|PHACTR3_uc010zzw.1_Missense_Mutation_p.S237Y|PHACTR3_uc002yav.2_Missense_Mutation_p.S237Y|PHACTR3_uc002yaw.2_Missense_Mutation_p.S237Y|PHACTR3_uc002yax.2_Missense_Mutation_p.S167Y	p.S278Y	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1300	+	all_lung(29;0.00344)		278					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.833C>A	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547516	0.65311	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.40476	1.66;1.68;1.03;1.68;1.68;1.68;1.03	5.13	5.13	0.70059	.	0.111853	0.64402	D	0.000006	T	0.65165	0.2665	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.87578	0.998;0.98;0.98	T	0.68496	-0.5393	10	0.66056	D	0.02	-14.2109	17.5855	0.87980	0.0:1.0:0.0:0.0	.	167;278;275	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	Y	275;278;167;237;237;237;167	ENSP00000353002:S275Y;ENSP00000360054:S278Y;ENSP00000379001:S167Y;ENSP00000442483:S237Y;ENSP00000347866:S237Y;ENSP00000378998:S237Y;ENSP00000354555:S167Y	ENSP00000347866:S237Y	S	+	2	0	PHACTR3	57781810	1.000000	0.71417	0.936000	0.37596	0.256000	0.26092	7.380000	0.79704	2.389000	0.81357	0.655000	0.94253	TCT		PASS	0.672	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		23	79	23	79	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60835156	60835156	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr20:60835156C>G	ENST00000313733.3	+	3	359	c.157C>G	c.(157-159)Caa>Gaa	p.Q53E	OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q41E|OSBPL2_ENST00000439951.2_Intron	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	53					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)	p.Q53*(1)|p.Q53E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAGGCCCTCTCAAGAGAACGG	0.438																																						uc002yck.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(157-159)CAA>GAA		oxysterol-binding protein-like protein 2 isoform							86.0	89.0	88.0					20																	60835156		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60835156C>G	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.157C>G	20.37:g.60835156C>G	ENSP00000316649:p.Gln53Glu					OSBPL2_uc002ycl.1_Missense_Mutation_p.Q41E|OSBPL2_uc011aah.1_Intron	p.Q53E	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		3	359	+	Breast(26;7.76e-09)		53					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.157C>G	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	0.187	-1.057253	0.01965	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.41758	0.99;0.99	4.48	3.51	0.40186	.	0.872349	0.09978	N	0.731426	T	0.40040	0.1101	L	0.52759	1.655	0.24558	N	0.993985	B;B	0.25390	0.125;0.077	B;B	0.28916	0.096;0.044	T	0.31613	-0.9937	10	0.26408	T	0.33	-16.4034	11.811	0.52183	0.0:0.8216:0.1784:0.0	.	41;53	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	E	41;53	ENSP00000350755:Q41E;ENSP00000316649:Q53E	ENSP00000316649:Q53E	Q	+	1	0	OSBPL2	60268551	0.188000	0.23250	0.004000	0.12327	0.086000	0.17979	3.162000	0.50755	0.955000	0.37878	0.655000	0.94253	CAA		PASS	0.438	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		54	142	54	142	---	---	---	---
TNFRSF6B	8771	broad.mit.edu	37	20	62329796	62329796	+	Silent	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr20:62329796C>G	ENST00000369996.1	+	3	883	c.783C>G	c.(781-783)ctC>ctG	p.L261L	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	261					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)	p.L261L(1)		central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			GTCGGCGGCTCACGGAGCTCC	0.771																																						uc002yfy.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(781-783)CTC>CTG		tumor necrosis factor receptor superfamily,							4.0	6.0	5.0					20																	62329796		1639	3429	5068	SO:0001819	synonymous_variant	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62329796C>G	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.783C>G	20.37:g.62329796C>G						RTEL1_uc002yfw.2_RNA|TNFRSF6B_uc002yfz.2_Silent_p.L261L	p.L261L	NM_032945	NP_116563	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		7	1217	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		261						Silent	SNP	ENST00000369996.1	37	c.783C>G	CCDS13532.1																																																																																				PASS	0.771	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			5	6	5	6	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16339226	16339226	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr21:16339226C>A	ENST00000400202.1	-	3	2000	c.1288G>T	c.(1288-1290)Ggt>Tgt	p.G430C	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.G430C|NRIP1_ENST00000400199.1_Missense_Mutation_p.G430C			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	430	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G430C(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CTTTCATCACCACTGCTGTCA	0.388																																						uc002yjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)GGT>TGT		nuclear receptor interacting protein 1							163.0	152.0	156.0					21																	16339226		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339226C>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1288G>T	21.37:g.16339226C>A	ENSP00000383063:p.Gly430Cys						p.G430C	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	1886	-			430			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1288G>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870458	0.72065	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.19806	2.12;2.12;2.12	6.02	6.02	0.97574	.	0.057035	0.64402	D	0.000002	T	0.42314	0.1197	L	0.47716	1.5	0.58432	D	0.999993	D	0.76494	0.999	D	0.65874	0.939	T	0.05767	-1.0865	10	0.66056	D	0.02	-11.5259	20.6048	0.99465	0.0:1.0:0.0:0.0	.	430	P48552	NRIP1_HUMAN	C	430	ENSP00000383060:G430C;ENSP00000383063:G430C;ENSP00000327213:G430C	ENSP00000327213:G430C	G	-	1	0	NRIP1	15261097	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.362000	0.79507	2.875000	0.98604	0.644000	0.83932	GGT		PASS	0.388	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		89	276	89	276	---	---	---	---
USP16	10600	broad.mit.edu	37	21	30402967	30402967	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr21:30402967A>G	ENST00000334352.4	+	4	344	c.113A>G	c.(112-114)aAg>aGg	p.K38R	USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.K38R|USP16_ENST00000399976.2_Missense_Mutation_p.K38R	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.K38R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AATTTGAAAAAGGCTTTAGTG	0.328																																					Melanoma(92;625 1444 27493 34101 44971)	uc002ymy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|pancreas(1)	4						c.(112-114)AAG>AGG		ubiquitin specific protease 16 isoform a							86.0	87.0	86.0					21																	30402967		2203	4300	6503	SO:0001583	missense	10600				cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr21:30402967A>G	AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.113A>G	21.37:g.30402967A>G	ENSP00000334808:p.Lys38Arg					USP16_uc002ymx.2_Missense_Mutation_p.K38R|USP16_uc002ymw.2_Missense_Mutation_p.K38R|USP16_uc011acm.1_Missense_Mutation_p.K24R|USP16_uc011acn.1_Intron	p.K38R	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN			3	315	+			38						Missense_Mutation	SNP	ENST00000334352.4	37	c.113A>G	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	A	8.799	0.932378	0.18131	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000399973	T;T;T;T	0.55588	3.11;3.1;3.1;0.51	5.15	2.78	0.32641	Zinc finger, RING/FYVE/PHD-type (1);	0.090659	0.85682	N	0.000000	T	0.33294	0.0858	N	0.24115	0.695	0.80722	D	1	B;B;B	0.12630	0.001;0.006;0.003	B;B;B	0.19391	0.007;0.025;0.011	T	0.05835	-1.0861	10	0.14252	T	0.57	.	8.5079	0.33199	0.834:0.0:0.166:0.0	.	24;38;38	Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;UBP16_HUMAN	R	38	ENSP00000382857:K38R;ENSP00000382858:K38R;ENSP00000334808:K38R;ENSP00000382855:K38R	ENSP00000334808:K38R	K	+	2	0	USP16	29324838	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	2.381000	0.44336	0.431000	0.26258	0.254000	0.18369	AAG		PASS	0.328	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			36	106	36	106	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	30925892	30925892	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr21:30925892G>A	ENST00000399907.1	-	17	3152	c.2741C>T	c.(2740-2742)tCa>tTa	p.S914L	GRIK1_ENST00000309434.7_Missense_Mutation_p.S916L|GRIK1_ENST00000399909.1_Missense_Mutation_p.S899L|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000389124.2_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	914					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S914L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGTATGAACTGAGGACTGTTT	0.348																																						uc002yno.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2740-2742)TCA>TTA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						83.0	81.0	82.0					21																	30925892		1826	4081	5907	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30925892G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2741C>T	21.37:g.30925892G>A	ENSP00000382791:p.Ser914Leu					GRIK1_uc002ynn.2_Intron|GRIK1_uc011acs.1_Intron|GRIK1_uc011act.1_Intron	p.S914L	NM_000830	NP_000821	P39086	GRIK1_HUMAN			17	3205	-			914			Cytoplasmic (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.2741C>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657258	0.29425	.	.	ENSG00000171189	ENST00000399907;ENST00000399909;ENST00000309434	T;T;T	0.11385	2.79;2.78;2.79	5.21	2.44	0.29823	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.25181	N	0.990204	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	9	0.72032	D	0.01	.	11.1396	0.48394	0.2156:0.0:0.7844:0.0	.	914	P39086	GRIK1_HUMAN	L	914;899;916	ENSP00000382791:S914L;ENSP00000382793:S899L;ENSP00000311646:S916L	ENSP00000311646:S916L	S	-	2	0	GRIK1	29847763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.067000	0.57527	0.903000	0.36546	0.650000	0.86243	TCA		PASS	0.348	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			51	124	51	124	---	---	---	---
AIFM3	150209	broad.mit.edu	37	22	21331176	21331176	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr22:21331176G>A	ENST00000399167.2	+	13	1407	c.1167G>A	c.(1165-1167)gtG>gtA	p.V389V	AIFM3_ENST00000440238.2_Silent_p.V389V|AIFM3_ENST00000405089.1_Silent_p.V395V|AIFM3_ENST00000335375.5_Silent_p.V377V|AIFM3_ENST00000399163.2_Silent_p.V389V|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.V389V	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	389					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.V389V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACAACCGGGTGAAGTTCTACA	0.637																																						uc002ztj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(1165-1167)GTG>GTA		apoptosis-inducing factor,							115.0	118.0	117.0					22																	21331176		2203	4300	6503	SO:0001819	synonymous_variant	150209				activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding	g.chr22:21331176G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1167G>A	22.37:g.21331176G>A						AIFM3_uc002ztk.2_Silent_p.V389V|AIFM3_uc002ztl.2_Silent_p.V395V|AIFM3_uc011ahx.1_Silent_p.V377V|AIFM3_uc002ztm.1_Silent_p.V201V|LZTR1_uc002ztn.2_5'Flank	p.V389V	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		13	1385	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	389					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Silent	SNP	ENST00000399167.2	37	c.1167G>A	CCDS13786.1																																																																																				PASS	0.637	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		45	117	45	117	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26270356	26270356	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr22:26270356C>G	ENST00000407587.2	+	23	4227	c.4058C>G	c.(4057-4059)tCt>tGt	p.S1353C	MYO18B_ENST00000536101.1_Missense_Mutation_p.S1352C|MYO18B_ENST00000335473.7_Missense_Mutation_p.S1352C			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1352	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1353C(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCTTTCTGTCTCGCCAGGAA	0.547																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4054-4056)TCT>TGT		myosin XVIIIB							69.0	68.0	69.0					22																	26270356		1931	4139	6070	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26270356C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4058C>G	22.37:g.26270356C>G	ENSP00000386096:p.Ser1353Cys					MYO18B_uc003aca.1_Missense_Mutation_p.S1233C|MYO18B_uc010guy.1_Missense_Mutation_p.S1234C|MYO18B_uc010guz.1_Missense_Mutation_p.S1233C|MYO18B_uc011aka.1_Missense_Mutation_p.S506C|MYO18B_uc011akb.1_Missense_Mutation_p.S865C	p.S1352C	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			23	4305	+			1352			IQ.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4055C>G		.	.	.	.	.	.	.	.	.	.	C	16.54	3.151775	0.57151	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.71934	-0.61;-0.61;-0.61	5.45	5.45	0.79879	.	0.235104	0.35772	N	0.002983	T	0.66356	0.2781	L	0.52364	1.645	0.37577	D	0.919679	P;B;P;P	0.41929	0.456;0.327;0.765;0.456	B;B;B;B	0.41036	0.25;0.127;0.346;0.25	T	0.72808	-0.4181	10	0.51188	T	0.08	.	12.5233	0.56072	0.0:0.8323:0.1677:0.0	.	865;1352;1353;1352	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	C	1352;1352;1353	ENSP00000441229:S1352C;ENSP00000334563:S1352C;ENSP00000386096:S1353C	ENSP00000334563:S1352C	S	+	2	0	MYO18B	24600356	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	3.423000	0.52756	2.554000	0.86153	0.650000	0.86243	TCT		PASS	0.547	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		17	66	17	66	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26291236	26291236	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr22:26291236C>G	ENST00000407587.2	+	28	4829	c.4660C>G	c.(4660-4662)Ctg>Gtg	p.L1554V	CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.L1553V|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.L1553V|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1553	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.L1554V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGGAAAGAGCTGGAGCAAAA	0.552																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4657-4659)CTG>GTG		myosin XVIIIB							30.0	36.0	34.0					22																	26291236		2094	4219	6313	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26291236C>G	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4660C>G	22.37:g.26291236C>G	ENSP00000386096:p.Leu1554Val					MYO18B_uc003aca.1_Missense_Mutation_p.L1434V|MYO18B_uc010guy.1_Missense_Mutation_p.L1435V|MYO18B_uc010guz.1_Missense_Mutation_p.L1433V|MYO18B_uc011aka.1_Missense_Mutation_p.L707V|MYO18B_uc011akb.1_Missense_Mutation_p.L1066V	p.L1553V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			28	4907	+			1553			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4657C>G		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160112	0.38119	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.89939	-2.59;-2.59;-1.13	5.26	3.16	0.36331	.	0.314136	0.25804	N	0.028187	D	0.85164	0.5634	L	0.52823	1.66	0.36761	D	0.883274	B;B;B;B	0.26195	0.033;0.089;0.046;0.144	B;B;B;B	0.28709	0.025;0.043;0.027;0.093	T	0.82922	-0.0217	10	0.59425	D	0.04	.	8.9274	0.35650	0.0:0.767:0.15:0.0831	.	1066;1553;1554;1553	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	V	1553;1553;1554	ENSP00000441229:L1553V;ENSP00000334563:L1553V;ENSP00000386096:L1554V	ENSP00000334563:L1553V	L	+	1	2	MYO18B	24621236	1.000000	0.71417	0.990000	0.47175	0.773000	0.43773	2.087000	0.41653	0.608000	0.30000	0.563000	0.77884	CTG		PASS	0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	14	4	14	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	31946267	31946267	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr22:31946267G>A	ENST00000400288.2	+	6	582	c.477G>A	c.(475-477)caG>caA	p.Q159Q	SFI1_ENST00000432498.1_Silent_p.Q159Q|SFI1_ENST00000414585.1_Intron|SFI1_ENST00000443326.1_Silent_p.Q77Q|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000540643.1_Silent_p.Q135Q|SFI1_ENST00000400289.1_Silent_p.Q77Q	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	159					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.Q159Q(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						TGATGTTCCAGACGTGGAAGA	0.473																																						uc003ale.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(475-477)CAG>CAA		spindle assembly associated Sfi1 homolog isoform							98.0	92.0	94.0					22																	31946267		1947	4149	6096	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31946267G>A	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.477G>A	22.37:g.31946267G>A						SFI1_uc003ald.1_Silent_p.Q135Q|SFI1_uc003alf.2_Silent_p.Q159Q|SFI1_uc003alg.2_Silent_p.Q77Q|SFI1_uc011alp.1_Silent_p.Q77Q|SFI1_uc011alq.1_Silent_p.Q135Q|SFI1_uc003alh.2_Intron	p.Q159Q	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			6	870	+			159			HAT 1.		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.477G>A	CCDS43004.1																																																																																				PASS	0.473	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		16	40	16	40	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22292129	22292129	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:22292129C>T	ENST00000323684.1	+	1	1065	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	341	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R341C(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCCTCCACTACGTGCTCCCCA	0.428																																						uc004dai.1																			1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(1021-1023)CGT>TGT		zinc finger protein 645							131.0	110.0	117.0					X																	22292129		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292129C>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.1021C>T	X.37:g.22292129C>T	ENSP00000323348:p.Arg341Cys						p.R341C	NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN			1	1070	+			341			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.1021C>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	3.103	-0.184372	0.06340	.	.	ENSG00000175809	ENST00000323684	T	0.32272	1.46	2.67	-5.35	0.02697	.	0.235407	0.34906	N	0.003587	T	0.10337	0.0253	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06409	-1.0828	10	0.41790	T	0.15	.	0.4775	0.00542	0.1989:0.2325:0.257:0.3116	.	341	Q8N7E2	ZN645_HUMAN	C	341	ENSP00000323348:R341C	ENSP00000323348:R341C	R	+	1	0	ZNF645	22202050	0.233000	0.23772	0.000000	0.03702	0.000000	0.00434	0.657000	0.24963	-2.099000	0.00849	-3.612000	0.00028	CGT		PASS	0.428	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		41	44	41	44	---	---	---	---
EFHC2	80258	broad.mit.edu	37	X	44101369	44101369	+	Silent	SNP	G	G	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:44101369G>A	ENST00000420999.1	-	8	1361	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	426							calcium ion binding (GO:0005509)	p.D426D(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TCAAGCACCTGTCTTTTTCCA	0.433																																						uc004dgb.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|central_nervous_system(1)	6						c.(1276-1278)GAC>GAT		EF-hand domain (C-terminal) containing 2							118.0	102.0	107.0					X																	44101369		1878	4096	5974	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44101369G>A	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1278C>T	X.37:g.44101369G>A							p.D426D	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN			9	1368	-			426					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.1278C>T	CCDS55405.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507661	0.44558	.	.	ENSG00000183690	ENST00000441230	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.0014	19.2302	0.93834	0.0:0.0:1.0:0.0	.	.	.	.	X	407	.	.	Q	-	1	0	EFHC2	43986313	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.790000	0.62453	2.493000	0.84123	0.600000	0.82982	CAG		PASS	0.433	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		9	14	9	14	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49076220	49076220	+	Missense_Mutation	SNP	C	C	G	rs375862263		TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:49076220C>G	ENST00000376265.2	-	20	2510	c.2449G>C	c.(2449-2451)Gag>Cag	p.E817Q	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E752Q|CACNA1F_ENST00000480889.1_5'Flank|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E806Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	817	Poly-Glu.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E817Q(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	tcttcttcctcttcttcctcc	0.512																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2449-2451)GAG>CAG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						136.0	100.0	112.0					X																	49076220		2191	4281	6472	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49076220C>G	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2449G>C	X.37:g.49076220C>G	ENSP00000365441:p.Glu817Gln					CACNA1F_uc010nip.2_Missense_Mutation_p.E806Q	p.E817Q	NM_005183	NP_005174	O60840	CAC1F_HUMAN			20	2511	-			817			Poly-Glu.|Cytoplasmic (Potential).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2449G>C	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	9.820	1.185418	0.21870	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	T;T;T	0.06294	3.32;3.32;3.32	4.52	4.52	0.55395	.	0.382127	0.19037	U	0.124386	T	0.14399	0.0348	M	0.73962	2.25	0.27663	N	0.947005	B;B	0.29085	0.232;0.149	B;B	0.39971	0.315;0.167	T	0.04386	-1.0955	10	0.31617	T	0.26	.	13.5914	0.61961	0.0:1.0:0.0:0.0	.	806;817	F5CIQ9;O60840	.;CAC1F_HUMAN	Q	752;806;817	ENSP00000365427:E752Q;ENSP00000321618:E806Q;ENSP00000365441:E817Q	ENSP00000321618:E806Q	E	-	1	0	CACNA1F	48963164	0.958000	0.32768	0.810000	0.32431	0.235000	0.25334	2.924000	0.48876	1.976000	0.57569	0.513000	0.50165	GAG		PASS	0.512	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		5	3	5	3	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65412100	65412100	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:65412100C>A	ENST00000343002.2	+	6	1856	c.1192C>A	c.(1192-1194)Cat>Aat	p.H398N	HEPH_ENST00000519389.1_Missense_Mutation_p.H452N|HEPH_ENST00000441993.2_Missense_Mutation_p.H401N|HEPH_ENST00000336279.5_Missense_Mutation_p.H131N|HEPH_ENST00000374727.3_Missense_Mutation_p.H401N|HEPH_ENST00000419594.1_Missense_Mutation_p.H401N			Q9BQS7	HEPH_HUMAN	hephaestin	398	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.H398N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCCGATGGGGCATGATGGGAG	0.502																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(1201-1203)CAT>AAT		hephaestin isoform a							93.0	81.0	85.0					X																	65412100		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65412100C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1192C>A	X.37:g.65412100C>A	ENSP00000343939:p.His398Asn					HEPH_uc004dwn.2_Missense_Mutation_p.H401N|HEPH_uc004dwo.2_Missense_Mutation_p.H131N|HEPH_uc010nkr.2_Missense_Mutation_p.H401N|HEPH_uc011mpa.1_Missense_Mutation_p.H401N	p.H401N	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			7	1261	+			398			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1201C>A		.	.	.	.	.	.	.	.	.	.	C	8.189	0.795536	0.16327	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	5.29	0.153	0.14897	Cupredoxin (2);	1.313130	0.04620	N	0.401883	D	0.94466	0.8219	N	0.11427	0.14	0.09310	N	1	B;B;B	0.18461	0.019;0.028;0.017	B;B;B	0.24394	0.006;0.031;0.053	D	0.90265	0.4303	10	0.30854	T	0.27	.	3.9919	0.09541	0.2524:0.3496:0.0:0.398	.	452;401;398	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	N	452;401;131;401;401;398;398	ENSP00000430620:H452N;ENSP00000363859:H401N;ENSP00000337418:H131N;ENSP00000411687:H401N;ENSP00000413211:H401N;ENSP00000343939:H398N;ENSP00000398078:H398N	ENSP00000337418:H131N	H	+	1	0	HEPH	65328825	0.000000	0.05858	0.091000	0.20842	0.942000	0.58702	-0.339000	0.07832	-0.122000	0.11766	0.523000	0.50628	CAT		PASS	0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		33	31	33	31	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67652753	67652753	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:67652753T>C	ENST00000355520.5	-	2	751	c.110A>G	c.(109-111)aAa>aGa	p.K37R	OPHN1_ENST00000540071.1_Missense_Mutation_p.K37R	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	37					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.K37R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GATTACGTCTTTGATGAATTT	0.522																																						uc004dww.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(109-111)AAA>AGA		oligophrenin 1							190.0	143.0	159.0					X																	67652753		2203	4300	6503	SO:0001583	missense	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67652753T>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.110A>G	X.37:g.67652753T>C	ENSP00000347710:p.Lys37Arg					OPHN1_uc011mpg.1_Missense_Mutation_p.K37R|OPHN1_uc004dwx.2_Missense_Mutation_p.K37R|OPHN1_uc010nku.1_RNA	p.K37R	NM_002547	NP_002538	O60890	OPHN1_HUMAN			2	404	-			37					B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Missense_Mutation	SNP	ENST00000355520.5	37	c.110A>G	CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727043	0.89390	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	T;T	0.05199	3.48;3.48	4.89	4.89	0.63831	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.85682	D	0.000000	T	0.30603	0.0770	M	0.91090	3.175	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.993	D;D;D	0.83275	0.981;0.996;0.978	T	0.19516	-1.0303	10	0.87932	D	0	.	11.3736	0.49715	0.0:0.0:0.0:1.0	.	37;37;37	F5H2E3;Q6PCC1;O60890	.;.;OPHN1_HUMAN	R	37	ENSP00000347710:K37R;ENSP00000438617:K37R	ENSP00000347710:K37R	K	-	2	0	OPHN1	67569478	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.466000	0.80914	1.812000	0.52913	0.417000	0.27973	AAA		PASS	0.522	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		20	15	20	15	---	---	---	---
CYLC1	1538	broad.mit.edu	37	X	83129187	83129187	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:83129187G>C	ENST00000329312.4	+	4	1508	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	491					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E491Q(1)|p.E490Q(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATCTGATTTGGAGTTAAAGAA	0.343																																						uc004eei.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(1471-1473)GAG>CAG		cylicin, basic protein of sperm head							61.0	54.0	56.0					X																	83129187		2197	4299	6496	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129187G>C	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1471G>C	X.37:g.83129187G>C	ENSP00000331556:p.Glu491Gln					CYLC1_uc004eeh.1_Missense_Mutation_p.E490Q	p.E491Q	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	1492	+			491			6.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.1471G>C	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259686	0.23051	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.51574	0.7	4.02	4.02	0.46733	.	.	.	.	.	T	0.56217	0.1970	L	0.54323	1.7	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.59487	0.858;0.858	T	0.41963	-0.9479	9	0.27785	T	0.31	-0.3275	10.5234	0.44934	0.0:0.0:1.0:0.0	.	491;491	P35663;F5H4V5	CYLC1_HUMAN;.	Q	491	ENSP00000331556:E491Q	ENSP00000331556:E491Q	E	+	1	0	CYLC1	83015843	0.036000	0.19791	0.007000	0.13788	0.137000	0.21094	1.724000	0.38064	2.243000	0.73865	0.600000	0.82982	GAG		PASS	0.343	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		12	11	12	11	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134171	91134171	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:91134171A>G	ENST00000373094.1	+	2	3777	c.2932A>G	c.(2932-2934)Atc>Gtc	p.I978V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.I978V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.I978V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I978V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I978V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I978V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I978V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I978V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.I978V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	978					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I978V(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGTGACTCTATCTCCAAGTG	0.512																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2932-2934)ATC>GTC		protocadherin 11 X-linked isoform c							271.0	208.0	229.0					X																	91134171		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134171A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2932A>G	X.37:g.91134171A>G	ENSP00000362186:p.Ile978Val					PCDH11X_uc004efl.1_Missense_Mutation_p.I978V|PCDH11X_uc004efo.1_Missense_Mutation_p.I978V|PCDH11X_uc010nmv.1_Missense_Mutation_p.I978V|PCDH11X_uc004efm.1_Missense_Mutation_p.I978V|PCDH11X_uc004efn.1_Missense_Mutation_p.I978V|PCDH11X_uc004efh.1_Missense_Mutation_p.I978V|PCDH11X_uc004efj.1_Missense_Mutation_p.I978V	p.I978V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3777	+			978			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2932A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509072	0.27036	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.35	4.24	0.50183	Protocadherin (1);	0.062472	0.64402	D	0.000007	T	0.32224	0.0822	M	0.64997	1.995	0.29479	N	0.856521	B;B;B;B;B;B;B;B	0.33583	0.259;0.365;0.365;0.365;0.365;0.418;0.138;0.097	B;B;B;B;B;B;B;B	0.40329	0.108;0.219;0.219;0.219;0.219;0.326;0.073;0.138	T	0.35525	-0.9785	10	0.52906	T	0.07	.	5.0029	0.14273	0.533:0.3261:0.0:0.141	.	978;978;978;978;978;978;978;978	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	V	978	ENSP00000378746:I978V;ENSP00000362186:I978V;ENSP00000362189:I978V;ENSP00000355040:I978V;ENSP00000362180:I978V;ENSP00000423762:I978V;ENSP00000355105:I978V;ENSP00000384758:I978V;ENSP00000298274:I978V	ENSP00000298274:I978V	I	+	1	0	PCDH11X	91020827	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.968000	0.56809	1.771000	0.52183	0.486000	0.48141	ATC		PASS	0.512	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		96	107	96	107	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873392	91873392	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:91873392C>G	ENST00000373094.1	+	7	4342	c.3497C>G	c.(3496-3498)gCa>gGa	p.A1166G	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1156G|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1129G|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1148G|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1158G|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1129G|PCDH11X_ENST00000504220.2_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1166					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1166G(1)|p.A1166V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCTTCGCAAGCACAGGCCTCT	0.562																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(3496-3498)GCA>GGA		protocadherin 11 X-linked isoform c							160.0	131.0	141.0					X																	91873392		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873392C>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3497C>G	X.37:g.91873392C>G	ENSP00000362186:p.Ala1166Gly					PCDH11X_uc004efl.1_Missense_Mutation_p.A1156G|PCDH11X_uc004efo.1_Missense_Mutation_p.A1129G|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1158G|PCDH11X_uc004efn.1_Missense_Mutation_p.A1148G	p.A1166G	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4342	+			1166			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3497C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	7.919	0.738082	0.15574	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.55052	0.56;0.57;0.56;0.54;0.56;0.56	3.95	-1.48	0.08745	.	1.767460	0.03906	U	0.281058	T	0.29588	0.0738	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0	T	0.09015	-1.0694	10	0.27785	T	0.31	.	4.7696	0.13150	0.0:0.3782:0.3144:0.3074	.	1129;1148;1158;1156;1166	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	G	1166;1156;1129;1148;1158;1166;1129	ENSP00000362186:A1166G;ENSP00000362189:A1156G;ENSP00000362180:A1129G;ENSP00000355105:A1148G;ENSP00000384758:A1158G;ENSP00000298274:A1129G	ENSP00000298274:A1129G	A	+	2	0	PCDH11X	91760048	0.009000	0.17119	0.000000	0.03702	0.010000	0.07245	-0.081000	0.11321	-0.663000	0.05331	-0.478000	0.04885	GCA		PASS	0.562	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		28	24	28	24	---	---	---	---
NLGN4Y	22829	broad.mit.edu	37	Y	16952514	16952514	+	3'UTR	SNP	C	C	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrY:16952514C>T	ENST00000476359.1	+	0	2368							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.S608L(1)		large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAGTATGTTTCAACAACCACA	0.493																																						uc004ftg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1822-1824)TCA>TTA		neuroligin 4, Y-linked isoform 1							73.0	68.0	69.0					Y																	16952514		1386	2505	3891	SO:0001624	3_prime_UTR_variant	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16952514C>T		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2365C>T	Y.37:g.16952514C>T						NLGN4Y_uc004fte.2_Missense_Mutation_p.S440L|NLGN4Y_uc011nas.1_Missense_Mutation_p.S628L|NLGN4Y_uc004ftf.2_Missense_Mutation_p.S301L|NLGN4Y_uc004fth.2_Missense_Mutation_p.S608L	p.S608L	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN			6	2075	+			608			Extracellular (Potential).		F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000476359.1	37	c.1823C>T																																																																																					PASS	0.493	NLGN4Y-004	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000089064.2	NM_014893		60	210	60	210	---	---	---	---
VENTXP7	391518	broad.mit.edu	37	3	21447901	21447902	+	IGR	INS	-	-	CC	rs555281269|rs112237068	byFrequency	TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:21447901_21447902insCC								AC104183.1 (17792 upstream) : RP11-180N14.1 (5811 downstream)																							CTGGCATACCACCCCCCACGCC	0.663														2183	0.435903	0.5038	0.3141	5008	,	,		12635	0.3998		0.503	False		,,,				2504	0.3988					uc003ccd.2																			0					0								Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA.																																				SO:0001628	intergenic_variant	391518							g.chr3:21447901_21447902insCC																													3.37:g.21447906_21447907dupCC								NR_002311						1		+									RNA	INS		37	c.684_685insCC																																																																																				0		0.663									2	6	2	6	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52555005	52555005	+	Frame_Shift_Del	DEL	T	T	-			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:52555005delT	ENST00000321725.6	+	55	5968	c.5892delT	c.(5890-5892)tatfs	p.Y1964fs		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1964					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGGTCACTATGGCAGTGAGT	0.602																																						uc003dej.2																			0				large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(5890-5892)TATfs		stabilin 1 precursor							21.0	24.0	23.0					3																	52555005		2198	4298	6496	SO:0001589	frameshift_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52555005delT	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5892delT	3.37:g.52555005delT	ENSP00000312946:p.Tyr1964fs					STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	p.Y1964fs	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	55	5966	+			1964			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Frame_Shift_Del	DEL	ENST00000321725.6	37	c.5892delT	CCDS33768.1																																																																																					0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		30	15	30	15	---	---	---	---
CD47	961	broad.mit.edu	37	3	107789994	107789995	+	Frame_Shift_Ins	INS	-	-	A			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr3:107789994_107789995insA	ENST00000361309.5	-	3	540_541	c.435_436insT	c.(433-438)attgttfs	p.V146fs	CD47_ENST00000355354.7_Frame_Shift_Ins_p.V146fs	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule	146					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			GGGAAAATAACAATAAGAATAT	0.282																																						uc003dwt.1																			0				ovary(1)	1						c.(433-438)ATTGTTfs		CD47 antigen isoform 1 precursor																																				SO:0001589	frameshift_variant	961				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity	g.chr3:107789994_107789995insA		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000361309.5:c.436dupT	3.37:g.107789996_107789996dupA	ENSP00000355361:p.Val146fs					CD47_uc003dwu.1_Frame_Shift_Ins_p.I145fs|CD47_uc003dwv.1_Frame_Shift_Ins_p.I145fs|CD47_uc003dww.1_Frame_Shift_Ins_p.I145fs	p.I145fs	NM_001777	NP_001768	Q08722	CD47_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)		3	615_616	-			145_146			Helical; (Potential).		A8K198|D3DN59|Q53Y71|Q96A60	Frame_Shift_Ins	INS	ENST00000361309.5	37	c.435_436insT	CCDS43126.1																																																																																					0.282	CD47-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000102793.1	NM_001777		21	10	21	10	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71946722	71946722	+	Frame_Shift_Del	DEL	G	G	-			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chr11:71946722delG	ENST00000298229.2	+	24	2867	c.2663delG	c.(2662-2664)tggfs	p.W888fs	INPPL1_ENST00000538751.1_Frame_Shift_Del_p.W646fs|INPPL1_ENST00000541756.1_Frame_Shift_Del_p.W646fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	888					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCCTCAGAGTGGATCAGCATT	0.607																																						uc001osf.2																			0				skin(2)|ovary(1)|breast(1)	4						c.(2662-2664)TGGfs		inositol polyphosphate phosphatase-like 1							55.0	55.0	55.0					11																	71946722		2200	4293	6493	SO:0001589	frameshift_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71946722delG	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2663delG	11.37:g.71946722delG	ENSP00000298229:p.Trp888fs					INPPL1_uc001osg.2_Frame_Shift_Del_p.W646fs	p.W888fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN			24	2810	+			888					B2RTX5|Q13577|Q13578	Frame_Shift_Del	DEL	ENST00000298229.2	37	c.2663delG	CCDS8213.1																																																																																					0.607	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		70	117	70	117	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41075634	41075635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:41075634_41075635insT	ENST00000324545.8	+	35	6447_6448	c.5814_5815insT	c.(5815-5817)tacfs	p.Y1939fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.Y1939fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1939	USP.				axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGCGTATGTCATACAGGCGCCA	0.371																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2																			0				lung(3)|breast(2)|ovary(1)	6						c.(5812-5817)TCATACfs		ubiquitin specific protease 9, X-linked isoform																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41075634_41075635insT	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.5815dupT	X.37:g.41075635_41075635dupT	ENSP00000316357:p.Tyr1939fs					USP9X_uc004dfc.2_Frame_Shift_Ins_p.S1938fs	p.S1938fs	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			35	6447_6448	+			1938_1939					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.5814_5815insT	CCDS43930.1																																																																																					0.371	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		78	94	78	94	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47039681	47039683	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-66-2768-01A-01D-1522-08	TCGA-66-2768-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d458cef-965d-4d27-b754-31df67ed6eaa	a9b7e2b3-bd16-48a4-864a-9ff7e6706f60	g.chrX:47039681_47039683delATG	ENST00000377604.3	+	11	1875_1877	c.1133_1135delATG	c.(1132-1137)aatgtt>att	p.378_379NV>I	RBM10_ENST00000329236.7_In_Frame_Del_p.300_301NV>I|RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000345781.6_In_Frame_Del_p.301_302NV>I	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	378	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AAGACCATCAATGTTGAGTTTGC	0.64																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2																			0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(1132-1137)AATGTT>ATT		RNA binding motif protein 10 isoform 1																																				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47039681_47039683delATG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1133_1135delATG	X.37:g.47039681_47039683delATG	ENSP00000366829:p.Asn378_Val379delinsIle					RBM10_uc004dhg.2_In_Frame_Del_p.300_301NV>I|RBM10_uc004dhh.2_In_Frame_Del_p.377_378NV>I|RBM10_uc010nhq.2_In_Frame_Del_p.301_302NV>I|RBM10_uc004dhi.2_In_Frame_Del_p.443_444NV>I	p.378_379NV>I	NM_005676	NP_005667	P98175	RBM10_HUMAN			11	1512_1514	+			378_379			RRM 2.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.1133_1135delATG	CCDS14274.1																																																																																					0.640	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	9	9	9	---	---	---	---
