#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_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
MEGF6	1953	broad.mit.edu	37	1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1192-1194)tAc>tGc		multiple EGF-like-domains 6							34.0	44.0	41.0					1																	3427388		2138	4234	6372	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427388T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1193A>G	1.37:g.3427388T>C	ENSP00000348982:p.Tyr398Cys					MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	p.Y398C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	10	1419	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	398			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1193A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	9.904	1.207579	0.22205	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.87412	-2.25;-2.25	4.51	2.11	0.27256	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.540004	0.19159	N	0.121247	D	0.86564	0.5963	M	0.64404	1.975	0.09310	N	1	D;P	0.62365	0.991;0.94	P;P	0.54460	0.706;0.753	T	0.76189	-0.3050	10	0.40728	T	0.16	-26.351	3.5283	0.07768	0.1744:0.1798:0.0:0.6458	.	398;293	O75095;O75095-2	MEGF6_HUMAN;.	C	293;398	ENSP00000294599:Y293C;ENSP00000348982:Y398C	ENSP00000294599:Y293C	Y	-	2	0	MEGF6	3417248	0.000000	0.05858	0.977000	0.42913	0.969000	0.65631	0.190000	0.17057	0.534000	0.28695	0.379000	0.24179	TAC		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		4	28	4	28	---	---	---	---
TAS1R1	80835	broad.mit.edu	37	1	6634741	6634741	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(547-549)ccC>ccA		taste receptor, type 1, member 1							94.0	89.0	91.0					1																	6634741		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6634741C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.549C>A	1.37:g.6634741C>A						TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	p.P183P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	742	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	183					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.549C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	9.477	1.097257	0.20552	.	.	ENSG00000173662	ENST00000411823	D	0.90004	-2.6	5.12	-2.71	0.05986	.	0.000000	0.85682	D	0.000000	D	0.87924	0.6300	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82448	-0.0452	7	0.87932	D	0	.	5.2121	0.15322	0.1116:0.2444:0.5006:0.1434	.	.	.	.	H	109	ENSP00000414166:P109H	ENSP00000414166:P109H	P	+	2	0	TAS1R1	6557328	0.001000	0.12720	0.616000	0.29078	0.957000	0.61999	-1.665000	0.01965	-0.459000	0.07013	0.561000	0.74099	CCT		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			23	34	23	34	---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16534048	16534048	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(841-843)aaC>aaT		Rho guanine nucleotide exchange factor (GEF) 19							57.0	53.0	55.0					1																	16534048		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534048G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.843C>T	1.37:g.16534048G>A							p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	5	979	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	281					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.843C>T	CCDS170.1																																																																																				0.622	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		7	20	7	20	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16956572	16956572	+	lincRNA	SNP	G	G	A	rs112034187		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16956572G>A	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CACTCTCGCTGTCGCTAAGCT	0.642																																						ENST00000412962.1																			0																																																			84809							g.chr1:16956572G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956572G>A														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	33	5	33	---	---	---	---
TRIM62	55223	broad.mit.edu	37	1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577																																						ENST00000291416.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1243-1245)aaG>aaT		tripartite motif containing 62							112.0	104.0	107.0					1																	33612961		2203	4300	6503	SO:0001583	missense	55223					intracellular	zinc ion binding	g.chr1:33612961C>A	BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1245G>T	1.37:g.33612961C>A	ENSP00000291416:p.Lys415Asn					TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	p.K415N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1478	-		Myeloproliferative disorder(586;0.0393)	415			B30.2/SPRY.		B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Missense_Mutation	SNP	ENST00000291416.5	37	c.1245G>T	CCDS376.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521895	0.64747	.	.	ENSG00000116525	ENST00000291416;ENST00000543586	T;T	0.69175	-0.38;-0.38	5.53	3.66	0.41972	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.78801	2.425	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.77726	-0.2480	10	0.66056	D	0.02	.	7.6136	0.28145	0.0:0.7391:0.0:0.2609	.	415	Q9BVG3	TRI62_HUMAN	N	415;294	ENSP00000291416:K415N;ENSP00000441173:K294N	ENSP00000291416:K415N	K	-	3	2	TRIM62	33385548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.965000	0.40471	0.702000	0.31825	0.436000	0.28706	AAG		0.577	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1	NM_018207		12	50	12	50	---	---	---	---
NASP	4678	broad.mit.edu	37	1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527																																						ENST00000350030.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1075-1077)Gct>Act		nuclear autoantigenic sperm protein (histone-binding)							86.0	96.0	93.0					1																	46073658		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073658G>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1075G>A	1.37:g.46073658G>A	ENSP00000255120:p.Ala359Thr					NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000372052.4_Intron	p.A359T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN			6	1162	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		359			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.1075G>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	7.751	0.703415	0.15172	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030	D;D;D	0.94758	-3.51;-3.51;-3.51	5.41	3.43	0.39272	.	0.956771	0.08643	N	0.915310	D	0.89283	0.6671	N	0.24115	0.695	0.09310	N	1	B;B;B;B;B	0.31680	0.328;0.335;0.19;0.099;0.253	B;B;B;B;B	0.31101	0.124;0.086;0.11;0.04;0.087	T	0.77765	-0.2465	9	.	.	.	0.2974	10.7559	0.46237	0.0:0.1427:0.7087:0.1485	.	295;359;259;359;361	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	T	295;361;259;359	ENSP00000438871:A295T;ENSP00000384529:A361T;ENSP00000255120:A359T	.	A	+	1	0	NASP	45846245	0.948000	0.32251	0.143000	0.22291	0.539000	0.34962	0.914000	0.28624	0.697000	0.31718	0.557000	0.71058	GCT		0.527	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		28	81	28	81	---	---	---	---
FAM73A	374986	broad.mit.edu	37	1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	rs149790967		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78338708C>T	ENST00000370791.3	+	15	1615	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	528						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGATTTTTTGCCCATTTTTAT	0.388																																						ENST00000370791.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1582-1584)gCc>gTc		family with sequence similarity 73, member A		C	VAL/ALA	0,4406		0,0,2203	221.0	211.0	214.0		1583	5.8	1.0	1	dbSNP_134	214	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM73A	NM_198549.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	528/633	78338708	1,13005	2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78338708C>T		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1583C>T	1.37:g.78338708C>T	ENSP00000359827:p.Ala528Val					FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	p.A528V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	15	1615	+			528					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1583C>T	CCDS681.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297515	0.95574	0.0	1.16E-4	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.26957	1.7;1.7	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.984	T	0.53236	-0.8467	10	0.72032	D	0.01	-20.8325	20.0693	0.97712	0.0:1.0:0.0:0.0	.	491;529;528	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	528;491	ENSP00000359827:A528V;ENSP00000393675:A491V	ENSP00000359827:A528V	A	+	2	0	FAM73A	78111296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.317000	0.79018	2.758000	0.94735	0.563000	0.77884	GCC		0.388	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		23	90	23	90	---	---	---	---
CLCA1	1179	broad.mit.edu	37	1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(466-468)Cat>Tat		chloride channel accessory 1							99.0	98.0	98.0					1																	86942145		2203	4300	6503	SO:0001583	missense	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86942145C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.466C>T	1.37:g.86942145C>T	ENSP00000234701:p.His156Tyr					CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y	p.H156Y			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	5	817	+		Lung NSC(277;0.239)	156					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	c.466C>T	CCDS709.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453942	0.84209	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	T;T	0.20069	2.1;2.1	5.85	5.85	0.93711	Chloride channel calcium-activated (1);	0.056686	0.64402	N	0.000002	T	0.53578	0.1805	M	0.92784	3.345	0.40690	D	0.982385	D	0.89917	1.0	D	0.91635	0.999	T	0.64588	-0.6372	10	0.87932	D	0	-22.1946	19.7493	0.96261	0.0:1.0:0.0:0.0	.	156	A8K7I4	CLCA1_HUMAN	Y	156	ENSP00000234701:H156Y;ENSP00000378200:H156Y	ENSP00000234701:H156Y	H	+	1	0	CLCA1	86714733	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.516000	0.67055	2.767000	0.95098	0.563000	0.77884	CAT		0.353	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		9	28	9	28	---	---	---	---
AMPD2	271	broad.mit.edu	37	1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	589					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGCTGGCCAACTTCCAGGA	0.577																																						ENST00000256578.3																			0				breast(1)|large_intestine(3)|ovary(2)|skin(1)	7						c.(1765-1767)Aac>Gac		adenosine monophosphate deaminase 2							42.0	40.0	41.0					1																	110171762		2203	4300	6503	SO:0001583	missense	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110171762A>G	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1765A>G	1.37:g.110171762A>G	ENSP00000256578:p.Asn589Asp					RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D	p.N589D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	13	2125	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	589					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	c.1765A>G	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.2|20.2	3.956852|3.956852	0.73902|0.73902	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.93859|.	-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Adenosine/AMP deaminase (1);|.	0.097739|.	0.64402|.	D|.	0.000002|.	T|T	0.68302|0.68302	0.2986|0.2986	M|M	0.83692|0.83692	2.655|2.655	0.44762|0.44762	D|D	0.997769|0.997769	P;B;P;B|.	0.36712|.	0.557;0.338;0.566;0.338|.	B;B;P;B|.	0.46208|.	0.215;0.358;0.507;0.373|.	T|T	0.72760|0.72760	-0.4196|-0.4196	10|5	0.62326|.	D|.	0.03|.	-35.1875|-35.1875	10.5616|10.5616	0.45148|0.45148	0.8382:0.1618:0.0:0.0|0.8382:0.1618:0.0:0.0	.|.	514;470;589;508|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	D|R	508;589;589;514;471;470|559	ENSP00000345498:N508D;ENSP00000436541:N589D;ENSP00000256578:N589D;ENSP00000351573:N514D;ENSP00000437164:N471D;ENSP00000377292:N470D|.	ENSP00000256578:N589D|.	N|Q	+|+	1|2	0|0	AMPD2|AMPD2	109973285|109973285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.952000|6.952000	0.75989|0.75989	2.066000|2.066000	0.61787|0.61787	0.533000|0.533000	0.62120|0.62120	AAC|CAA		0.577	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			13	21	13	21	---	---	---	---
ALX3	257	broad.mit.edu	37	1	110603475	110603475	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000554749.1_RNA|RP4-773N10.4_ENST00000596959.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304					embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|pattern specification process (GO:0007389)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617																																						ENST00000369792.4																			0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(910-912)ccC>ccT		ALX homeobox 3							34.0	36.0	35.0					1																	110603475		2203	4300	6503	SO:0001819	synonymous_variant	257					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:110603475G>A	AF008203	CCDS819.1	1p13.3	2014-02-04	2008-11-04		ENSG00000156150	ENSG00000156150		"""Homeoboxes / PRD class"""	449	protein-coding gene	gene with protein product		606014	"""aristaless-like homeobox 3"", ""frontonasal dysplasia"""	FND		15226305, 11807986, 19409524	Standard	NM_006492		Approved		uc001dzb.3	O95076	OTTHUMG00000011650	ENST00000369792.4:c.912C>T	1.37:g.110603475G>A						RP4-773N10.4_ENST00000554749.1_RNA	p.P304P	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	999	-		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	304					O95075|Q5T8M4	Silent	SNP	ENST00000369792.4	37	c.912C>T	CCDS819.1																																																																																				0.617	ALX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032232.2	NM_006492		6	31	6	31	---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	snoU13_ENST00000459345.1_RNA|CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(358-360)tGg>tTg		capping protein (actin filament) muscle Z-line, alpha 1							158.0	170.0	166.0					1																	113197226		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113197226G>T	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.359G>T	1.37:g.113197226G>T	ENSP00000263168:p.Trp120Leu					CAPZA1_ENST00000476936.1_Intron	p.W120L	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1031	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	120					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.359G>T	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043982	0.55110	.	.	ENSG00000116489	ENST00000263168	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	N	0.25332	0.735	0.80722	D	1	B	0.22746	0.074	B	0.25506	0.061	T	0.17592	-1.0364	9	0.06757	T	0.87	-8.4697	17.4837	0.87682	0.0:0.0:1.0:0.0	.	120	P52907	CAZA1_HUMAN	L	120	.	ENSP00000263168:W120L	W	+	2	0	CAPZA1	112998749	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.655000	0.98512	2.526000	0.85167	0.585000	0.79938	TGG		0.413	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		9	91	9	91	---	---	---	---
PTGFRN	5738	broad.mit.edu	37	1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2077-2079)tCt>tAt		prostaglandin F2 receptor inhibitor							186.0	196.0	193.0					1																	117516856		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117516856C>A	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2078C>A	1.37:g.117516856C>A	ENSP00000376899:p.Ser693Tyr					PTGFRN_ENST00000496699.1_3'UTR	p.S693Y	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	7	2225	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	693			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2078C>A	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965920	0.74131	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.03982	3.74	5.74	5.74	0.90152	Immunoglobulin-like (1);	0.137479	0.50627	D	0.000101	T	0.11623	0.0283	L	0.57536	1.79	0.53688	D	0.999974	D	0.76494	0.999	D	0.72982	0.979	T	0.00645	-1.1629	10	0.52906	T	0.07	-20.0722	15.4328	0.75116	0.0:1.0:0.0:0.0	.	693	Q9P2B2	FPRP_HUMAN	Y	693;552	ENSP00000376899:S693Y	ENSP00000376899:S693Y	S	+	2	0	PTGFRN	117318379	0.997000	0.39634	1.000000	0.80357	0.867000	0.49689	3.802000	0.55553	2.720000	0.93068	0.650000	0.86243	TCT		0.423	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		32	61	32	61	---	---	---	---
S100A4	6275	broad.mit.edu	37	1	153516337	153516337	+	Silent	SNP	G	G	A	rs111468775	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:153516337G>A	ENST00000368716.4	-	3	351	c.204C>T	c.(202-204)aaC>aaT	p.N68N	S100A4_ENST00000354332.4_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	AGTCCACCTCGTTGTCCCTGT	0.483													G|||	4	0.000798722	0.0023	0.0	5008	,	,		19980	0.001		0.0	False		,,,				2504	0.0					ENST00000368716.4																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(202-204)aaC>aaT		S100 calcium binding protein A4		G	,	9,4397	15.5+/-35.6	0,9,2194	243.0	219.0	227.0		204,204	-0.7	1.0	1	dbSNP_132	227	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	S100A4	NM_002961.2,NM_019554.2	,	0,10,6493	AA,AG,GG		0.0116,0.2043,0.0769	,	68/102,68/102	153516337	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	6275				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding	g.chr1:153516337G>A	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.204C>T	1.37:g.153516337G>A						S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000354332.4_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR	p.N68N	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	351	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		68			EF-hand 2.		A8K7R8|D3DV46|Q6ICP8	Silent	SNP	ENST00000368716.4	37	c.204C>T	CCDS1042.1																																																																																				0.483	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037714.1	NM_002961		14	128	14	128	---	---	---	---
C1orf43	25912	broad.mit.edu	37	1	154179947	154179947	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000362076.4_Silent_p.T196T|C1orf189_ENST00000368525.3_5'Flank|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000350592.3_Silent_p.T214T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	248						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCTCCAATGTGTTATAGT	0.507																																						ENST00000368521.5																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10						c.(742-744)acA>acT		chromosome 1 open reading frame 43							146.0	147.0	146.0					1																	154179947		2203	4300	6503	SO:0001819	synonymous_variant	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154179947T>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.744A>T	1.37:g.154179947T>A						C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T	p.T248T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN			7	942	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		248					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Silent	SNP	ENST00000368521.5	37	c.744A>T	CCDS41404.1																																																																																				0.507	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		29	61	29	61	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159860404	159860404	+	Silent	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532																																						ENST00000368099.4																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(136-138)gcC>gcG		coiled-coil domain containing 19							93.0	94.0	94.0					1																	159860404		2203	4300	6503	SO:0001819	synonymous_variant	25790					mitochondrion|soluble fraction		g.chr1:159860404G>C																												ENST00000368099.4:c.138C>G	1.37:g.159860404G>C						CCDC19_ENST00000426543.2_5'UTR|CCDC19_ENST00000476696.1_5'UTR	p.A46A	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		3	202	-	all_hematologic(112;0.0597)		46						Silent	SNP	ENST00000368099.4	37	c.138C>G	CCDS30914.1																																																																																				0.532	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			4	55	4	55	---	---	---	---
NCSTN	23385	broad.mit.edu	37	1	160314573	160314573	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:160314573C>A	ENST00000294785.5	+	2	272	c.147C>A	c.(145-147)ccC>ccA	p.P49P	COPA_ENST00000241704.7_5'Flank|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000368063.1_Silent_p.P29P|COPA_ENST00000368069.3_5'Flank	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(85-87)ccC>ccA		nicastrin							94.0	83.0	87.0					1																	160314573		2203	4300	6503	SO:0001819	synonymous_variant	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160314573C>A	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.147C>A	1.37:g.160314573C>A						NCSTN_ENST00000535857.1_Silent_p.P49P|NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000294785.5_Silent_p.P49P	p.P29P			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	367	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		49					Q5T207|Q5T208|Q86VV5	Silent	SNP	ENST00000294785.5	37	c.87C>A	CCDS1203.1																																																																																				0.428	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	23	4	23	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185259915	185259915	+	Missense_Mutation	SNP	A	A	G	rs200005543		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:185259915A>G	ENST00000367500.4	+	19	2848	c.2683A>G	c.(2683-2685)Atg>Gtg	p.M895V	SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	895										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTGTGAAGACATGCTCAACTA	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		15012	0.0		0.001	False		,,,				2504	0.0					ENST00000367500.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(2683-2685)Atg>Gtg		SWT1 RNA endoribonuclease homolog (S. cerevisiae)		A	VAL/MET,VAL/MET	0,4406		0,0,2203	91.0	89.0	89.0		2683,2683	2.0	0.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SWT1	NM_001105518.1,NM_017673.6	21,21	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	895/901,895/901	185259915	1,13005	2203	4300	6503	SO:0001583	missense	54823							g.chr1:185259915A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.2683A>G	1.37:g.185259915A>G	ENSP00000356470:p.Met895Val					SWT1_ENST00000367501.3_Missense_Mutation_p.M895V	p.M895V	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN			19	2848	+			895					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.2683A>G	CCDS1367.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	1.518	-0.547793	0.04024	0.0	1.16E-4	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.19394	2.15;2.15	5.67	2.02	0.26589	.	0.691975	0.14405	N	0.321602	T	0.12860	0.0312	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.25916	-1.0118	10	0.37606	T	0.19	.	5.6068	0.17385	0.4326:0.3484:0.219:0.0	.	895	Q5T5J6	SWT1_HUMAN	V	895	ENSP00000356471:M895V;ENSP00000356470:M895V	ENSP00000356470:M895V	M	+	1	0	SWT1	183526538	0.394000	0.25246	0.018000	0.16275	0.087000	0.18053	1.486000	0.35530	0.085000	0.17107	-0.261000	0.10672	ATG		0.403	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		11	16	11	16	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186009011	186009011	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186009011G>A	ENST00000271588.4	+	39	6409	c.6180G>A	c.(6178-6180)caG>caA	p.Q2060Q	HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2060	Ig-like C2-type 18.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTACAGGTACCTTCAT	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6178-6180)caG>caA		hemicentin 1							104.0	100.0	101.0					1																	186009011		2203	4300	6503	SO:0001630	splice_region_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186009011G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6180+1G>A	1.37:g.186009011G>A						HMCN1_ENST00000367492.2_Splice_Site_p.Q2060Q	p.Q2060Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			39	6409	+			2060			Ig-like C2-type 18.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Splice_Site	SNP	ENST00000271588.4	37	c.6180G>A	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	Silent	10	31	10	31	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3505-3507)Tat>Cat		proteoglycan 4							128.0	123.0	125.0					1																	186280171		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280171T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3505T>C	1.37:g.186280171T>C	ENSP00000399679:p.Tyr1169His					PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H|PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H	p.Y1169H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			9	3550	+			1169			Hemopexin-like 1.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3505T>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196912	0.38806	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	4.53	4.53	0.55603	Hemopexin/matrixin (2);	0.000000	0.39834	U	0.001241	T	0.42040	0.1185	M	0.76170	2.325	0.41800	D	0.98991	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.995;0.996;0.988;0.995	T	0.44982	-0.9292	10	0.87932	D	0	-6.9519	14.1672	0.65486	0.0:0.0:0.0:1.0	.	1035;1076;1169;1128	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1126;698;1128;1076;1169	ENSP00000356456:Y1126H;ENSP00000356454:Y698H;ENSP00000356453:Y1128H;ENSP00000356455:Y1076H;ENSP00000399679:Y1169H	ENSP00000356453:Y1128H	Y	+	1	0	PRG4	184546794	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.326000	0.79133	1.820000	0.53075	0.477000	0.44152	TAT		0.368	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		15	40	15	40	---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(13-15)Atc>Gtc		epoxide hydrolase 1, microsomal (xenobiotic)							47.0	46.0	46.0					1																	226016443		2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226016443A>G	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.13A>G	1.37:g.226016443A>G	ENSP00000355802:p.Ile5Val					EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			2	209	+	Breast(184;0.197)		5					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.13A>G	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	A	0.817	-0.749854	0.03041	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.16597	2.6;3.72;2.33;3.72	5.0	1.27	0.21489	.	0.365474	0.28349	N	0.015663	T	0.11281	0.0275	L	0.45698	1.435	0.09310	N	1	B	0.14012	0.009	B	0.15870	0.014	T	0.41466	-0.9507	10	0.07644	T	0.81	-12.814	6.7093	0.23268	0.4231:0.4276:0.1493:0.0	.	5	P07099	HYEP_HUMAN	V	5	ENSP00000398491:I5V;ENSP00000272167:I5V;ENSP00000408469:I5V;ENSP00000355802:I5V	ENSP00000272167:I5V	I	+	1	0	EPHX1	224083066	0.961000	0.32948	0.335000	0.25508	0.257000	0.26127	0.908000	0.28545	-0.031000	0.13781	0.379000	0.24179	ATC		0.587	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		4	19	4	19	---	---	---	---
TTC13	79573	broad.mit.edu	37	1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1828-1830)Aac>Gac		tetratricopeptide repeat domain 13							34.0	36.0	36.0					1																	231057237		2176	4269	6445	SO:0001583	missense	79573						binding	g.chr1:231057237T>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1828A>G	1.37:g.231057237T>C	ENSP00000355621:p.Asn610Asp					TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	p.N610D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	16	1835	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	610					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1828A>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810989	0.70797	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000486879	T;T;T	0.47528	0.84;0.89;0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.54323	1.7	0.80722	D	1	P;D;P;P	0.69078	0.476;0.997;0.859;0.618	B;D;B;B	0.73380	0.094;0.98;0.41;0.222	T	0.56649	-0.7944	10	0.18710	T	0.47	-16.5444	15.8221	0.78662	0.0:0.0:0.0:1.0	.	535;557;557;610	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	D	610;557;557;44	ENSP00000355621:N610D;ENSP00000355622:N557D;ENSP00000416631:N557D	ENSP00000355621:N610D	N	-	1	0	TTC13	229123860	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.779000	0.85648	2.139000	0.66308	0.533000	0.62120	AAC		0.259	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		6	47	6	47	---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244724125	244724125	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(1183-1185)gaG>gaA		chromosome 1 open reading frame 101							111.0	119.0	116.0					1																	244724125		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244724125G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.1185G>A	1.37:g.244724125G>A						C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000366533.4_Silent_p.E395E|C1orf101_ENST00000473875.1_3'UTR	p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		10	1239	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		395					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.1185G>A	CCDS44340.1																																																																																				0.368	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		25	51	25	51	---	---	---	---
OR2M2	391194	broad.mit.edu	37	1	248343968	248343968	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATTCACATGGGATCTG	0.433																																						ENST00000359682.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(679-681)caC>caT		olfactory receptor, family 2, subfamily M, member 2							178.0	161.0	167.0					1																	248343968		2202	4296	6498	SO:0001819	synonymous_variant	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248343968C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.681C>T	1.37:g.248343968C>T							p.H227H	NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	681	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		227					A3KFT4	Silent	SNP	ENST00000359682.2	37	c.681C>T	CCDS31106.1																																																																																				0.433	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688		9	167	9	167	---	---	---	---
OR2T27	403239	broad.mit.edu	37	1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542																																						ENST00000344889.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(379-381)tGc>tTc		olfactory receptor, family 2, subfamily T, member 27							95.0	48.0	64.0					1																	248813806		2202	4270	6472	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813806C>A		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.380G>T	1.37:g.248813806C>A	ENSP00000342008:p.Cys127Phe						p.C127F	NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	379	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	127						Missense_Mutation	SNP	ENST00000344889.3	37	c.380G>T	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.331281	0.24167	.	.	ENSG00000187701	ENST00000344889	T	0.34472	1.36	3.3	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000571	T	0.70263	0.3204	H	0.98089	4.145	0.35768	D	0.820661	D	0.89917	1.0	D	0.70487	0.969	T	0.82424	-0.0464	10	0.87932	D	0	.	11.0673	0.47982	0.187:0.813:0.0:0.0	.	127	Q8NH04	O2T27_HUMAN	F	127	ENSP00000342008:C127F	ENSP00000342008:C127F	C	-	2	0	OR2T27	246880429	0.997000	0.39634	0.070000	0.20053	0.068000	0.16541	3.751000	0.55165	0.713000	0.32060	0.194000	0.17425	TGC		0.542	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		14	117	14	117	---	---	---	---
APLF	200558	broad.mit.edu	37	2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(160-162)aTc>aCc		aprataxin and PNKP like factor							84.0	85.0	85.0					2																	68717386		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68717386T>C	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.161T>C	2.37:g.68717386T>C	ENSP00000307004:p.Ile54Thr						p.I54T	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			2	332	+			54			FHA-like.		A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.161T>C	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.971371	0.74246	.	.	ENSG00000169621	ENST00000303795	T	0.26957	1.7	5.93	5.93	0.95920	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.056194	0.64402	D	0.000001	T	0.51856	0.1699	M	0.78637	2.42	0.43857	D	0.996453	D	0.76494	0.999	D	0.85130	0.997	T	0.56226	-0.8014	10	0.87932	D	0	.	12.7716	0.57423	0.0:0.0:0.0:1.0	.	54	Q8IW19	APLF_HUMAN	T	54	ENSP00000307004:I54T	ENSP00000307004:I54T	I	+	2	0	APLF	68570890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.902000	0.56310	2.271000	0.75665	0.533000	0.62120	ATC		0.368	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		3	8	3	8	---	---	---	---
DNAH6	1768	broad.mit.edu	37	2	84800604	84800604	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:84800604C>T	ENST00000237449.6	+	11	1825	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	DNAH6_ENST00000389394.3_Missense_Mutation_p.A606V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	606	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACCATTCAGGCCGCATTTGAA	0.328																																						ENST00000389394.3																			0				NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						c.(1816-1818)gCc>gTc		dynein, axonemal, heavy chain 6							82.0	85.0	84.0					2																	84800604		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84800604C>T	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1817C>T	2.37:g.84800604C>T	ENSP00000237449:p.Ala606Val					DNAH6_ENST00000237449.6_Missense_Mutation_p.A606V|DNAH6_ENST00000398278.2_Missense_Mutation_p.A606V	p.A606V	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN			12	1954	+			606			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1817C>T	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	C	1.990	-0.432042	0.04669	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.25250	1.81;1.94;1.81	4.95	4.04	0.47022	.	0.461095	0.18150	N	0.150133	T	0.19967	0.0480	L	0.44542	1.39	0.25269	N	0.989534	B;B	0.30973	0.005;0.302	B;B	0.27500	0.004;0.08	T	0.13656	-1.0501	10	0.17369	T	0.5	.	11.28	0.49188	0.3315:0.6685:0.0:0.0	.	606;185	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	V	606	ENSP00000374045:A606V;ENSP00000381326:A606V;ENSP00000237449:A606V	ENSP00000237449:A606V	A	+	2	0	DNAH6	84654115	0.993000	0.37304	0.995000	0.50966	0.071000	0.16799	1.931000	0.40134	1.006000	0.39211	0.491000	0.48974	GCC		0.328	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		8	54	8	54	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2659-2661)ttG>ttC		transmembrane protein 131							81.0	79.0	79.0					2																	98418415		1822	4073	5895	SO:0001583	missense	23505					integral to membrane		g.chr2:98418415C>G	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2661G>C	2.37:g.98418415C>G	ENSP00000186436:p.Leu887Phe						p.L887F	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			25	2889	-			887						Missense_Mutation	SNP	ENST00000186436.5	37	c.2661G>C	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208394	0.58343	.	.	ENSG00000075568	ENST00000186436	T	0.34667	1.35	5.87	4.0	0.46444	.	0.071579	0.56097	D	0.000037	T	0.30727	0.0774	L	0.50333	1.59	0.80722	D	1	P	0.45902	0.868	B	0.42319	0.383	T	0.03503	-1.1030	10	0.33141	T	0.24	-10.2834	7.2626	0.26212	0.1333:0.7226:0.0:0.1442	.	887	Q92545	TM131_HUMAN	F	887	ENSP00000186436:L887F	ENSP00000186436:L887F	L	-	3	2	TMEM131	97784847	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.595000	0.36708	0.752000	0.32923	0.591000	0.81541	TTG		0.299	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		10	15	10	15	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453																																						ENST00000263713.5																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(31-33)Cgt>Tgt		erythrocyte membrane protein band 4.1 like 5							199.0	195.0	196.0					2																	120776691		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120776691C>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.31C>T	2.37:g.120776691C>T	ENSP00000263713:p.Arg11Cys					EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C	p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN			2	245	+			11					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.31C>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560637	0.65538	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.85861	-2.01;-2.04;-1.96;-1.96;-2.01	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.89114	0.6623	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.984;1.0	D	0.90415	0.4412	10	0.87932	D	0	.	18.9431	0.92611	0.0:1.0:0.0:0.0	.	11;11;11	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	C	11	ENSP00000263713:R11C;ENSP00000393856:R11C;ENSP00000329687:R11C;ENSP00000393722:R11C;ENSP00000390439:R11C	ENSP00000263713:R11C	R	+	1	0	EPB41L5	120493161	1.000000	0.71417	0.895000	0.35142	0.583000	0.36354	4.351000	0.59398	2.552000	0.86080	0.650000	0.86243	CGT		0.453	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		10	124	10	124	---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	rs540240518		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000361492.4_Missense_Mutation_p.G91S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17960	0.0		0.0	False		,,,				2504	0.0					ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(271-273)Ggc>Agc		GLI family zinc finger 2							98.0	111.0	107.0					2																	121708835		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708835G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.271G>A	2.37:g.121708835G>A	ENSP00000390436:p.Gly91Ser					GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S	p.G91S			P10070	GLI2_HUMAN			4	331	+	Renal(3;0.0496)	Prostate(154;0.0623)	91						Missense_Mutation	SNP	ENST00000452319.1	37	c.271G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043608	0.75732	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.41400	1.0;1.0	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70016	0.958;0.967;0.955	T	0.40496	-0.9560	10	0.05525	T	0.97	.	19.1082	0.93305	0.0:0.0:1.0:0.0	.	91;91;91	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	S	91	ENSP00000390436:G91S;ENSP00000354586:G91S	ENSP00000354586:G91S	G	+	1	0	GLI2	121425305	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	6.611000	0.74183	2.751000	0.94390	0.555000	0.69702	GGC		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		7	115	7	115	---	---	---	---
ACVR2A	92	broad.mit.edu	37	2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548). {ECO:0000305}.	activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647																																						ENST00000241416.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45						c.(37-39)Ctt>Gtt		activin A receptor, type IIA							64.0	65.0	64.0					2																	148602758		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148602758C>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.37C>G	2.37:g.148602758C>G	ENSP00000241416:p.Leu13Val					ACVR2A_ENST00000535787.1_Intron|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V	p.L13V	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	1	673	+			13	L -> V (in Ref. 4; BAA06548).				B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.37C>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998310	0.35226	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83755	-1.76;-1.76	4.42	4.42	0.53409	.	1.121610	0.06903	N	0.806328	D	0.82467	0.5043	L	0.53249	1.67	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.66524	-0.5902	10	0.36615	T	0.2	.	16.8377	0.85961	0.0:1.0:0.0:0.0	.	13	P27037	AVR2A_HUMAN	V	13	ENSP00000241416:L13V;ENSP00000384338:L13V	ENSP00000241416:L13V	L	+	1	0	ACVR2A	148319228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.046000	0.57376	2.271000	0.75665	0.585000	0.79938	CTT		0.647	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		14	23	14	23	---	---	---	---
SLC38A11	151258	broad.mit.edu	37	2	165809221	165809221	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:165809221A>G	ENST00000409149.3	-	2	348	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000303735.4_Silent_p.V19V	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363																																						ENST00000303735.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(55-57)gtT>gtC		solute carrier family 38, member 11							52.0	56.0	55.0					2																	165809221		2203	4299	6502	SO:0001819	synonymous_variant	151258				amino acid transport|sodium ion transport	integral to membrane		g.chr2:165809221A>G		CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.57T>C	2.37:g.165809221A>G						SLC38A11_ENST00000409149.3_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409662.1_Silent_p.V19V	p.V19V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN			2	387	-			19					B4DF99|Q8N887	Silent	SNP	ENST00000409149.3	37	c.57T>C	CCDS56142.1																																																																																				0.363	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333390.1	NM_173512		5	29	5	29	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179440959	179440959	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:179440959C>T	ENST00000591111.1	-	276	65201	c.64977G>A	c.(64975-64977)caG>caA	p.Q21659Q	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.Q23300Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592689.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q			Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GAACAACGAACTGAGTGATTC	0.468																																						ENST00000589042.1																			0				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						c.(69898-69900)caG>caA		titin							73.0	72.0	72.0					2																	179440959		1903	4129	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440959C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64977G>A	2.37:g.179440959C>T						TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.Q23300Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	70124	-			21659			Fibronectin type-III 69.		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.69900G>A																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	32	5	32	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(3595-3597)aAc>aGc		par-3 family cell polarity regulator beta							50.0	56.0	54.0					2																	206480515		1951	4133	6084	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206480515A>G	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.3596A>G	2.37:g.206480515A>G	ENSP00000385848:p.Asn1199Ser					PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S|PARD3B_ENST00000488622.1_3'UTR	p.N1199S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	23	3803	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	1199					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.3596A>G		.	.	.	.	.	.	.	.	.	.	A	14.83	2.651958	0.47362	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.15603	2.65;2.41;2.6;2.57	5.87	4.71	0.59529	.	0.188915	0.37857	N	0.001904	T	0.14141	0.0342	L	0.44542	1.39	0.21499	N	0.999664	P;B;B;B	0.39535	0.677;0.016;0.138;0.005	B;B;B;B	0.32677	0.15;0.004;0.044;0.019	T	0.11743	-1.0575	10	0.72032	D	0.01	.	11.2025	0.48749	0.9257:0.0:0.0743:0.0	.	1199;1130;1137;1098	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	S	1199;1137;1130;1098	ENSP00000385848:N1199S;ENSP00000351618:N1137S;ENSP00000317261:N1130S;ENSP00000340280:N1098S	ENSP00000340280:N1098S	N	+	2	0	PARD3B	206188760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.678000	0.54627	1.024000	0.39682	0.528000	0.53228	AAC		0.582	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		10	41	10	41	---	---	---	---
INHA	3623	broad.mit.edu	37	2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657																																						ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(715-717)tGg>tAg		inhibin, alpha							51.0	55.0	54.0					2																	220439863		2203	4300	6503	SO:0001587	stop_gained	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439863G>A		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.716G>A	2.37:g.220439863G>A	ENSP00000243786:p.Trp239*						p.W239*	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	896	+		Renal(207;0.0183)	239					A8K8H5	Nonsense_Mutation	SNP	ENST00000243786.2	37	c.716G>A	CCDS2444.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563888	0.86335	.	.	ENSG00000123999	ENST00000243786	.	.	.	5.48	2.7	0.31948	.	0.694155	0.13819	N	0.360564	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.3149	5.3078	0.15813	0.1563:0.0:0.5373:0.3064	.	.	.	.	X	239	.	.	W	+	2	0	INHA	220148107	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.243000	0.51392	0.674000	0.31244	-0.310000	0.09108	TGG		0.657	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			18	45	18	45	---	---	---	---
SAG	6295	broad.mit.edu	37	2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T	rs201153410		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9	GRCh37	CM981785	SAG	M		c.(577-579)Cga>Tga		S-antigen; retina and pineal gland (arrestin)		C	stop/ARG	0,4000		0,0,2000	120.0	115.0	117.0		577	1.6	0.1	2		117	3,8339		0,3,4168	yes	stop-gained	SAG	NM_000541.4		0,3,6168	TT,TC,CC		0.036,0.0,0.0243		193/406	234237188	3,12339	2000	4171	6171	SO:0001587	stop_gained	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237188C>T		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.577C>T	2.37:g.234237188C>T	ENSP00000386444:p.Arg193*					SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	p.R193*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	807	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	193					A0FDN6|Q53SV3|Q99858	Nonsense_Mutation	SNP	ENST00000409110.1	37	c.577C>T	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745375	0.49151	0.0	3.6E-4	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	.	.	.	4.19	1.6	0.23607	.	1.939470	0.02219	N	0.063843	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	2.9227	3.3721	0.07224	0.3069:0.4166:0.0:0.2765	.	.	.	.	X	193;193;59	.	ENSP00000252857:R193X	R	+	1	2	SAG	233901927	0.000000	0.05858	0.148000	0.22405	0.047000	0.14425	-0.132000	0.10467	0.187000	0.20147	0.655000	0.94253	CGA		0.582	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		15	45	15	45	---	---	---	---
DGKD	8527	broad.mit.edu	37	2	234371288	234371288	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592																																						ENST00000264057.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.e26-1		diacylglycerol kinase, delta 130kDa	Phosphatidylserine(DB00144)						135.0	140.0	138.0					2																	234371288		2203	4300	6503	SO:0001630	splice_region_variant	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234371288G>T	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.3094-1G>T	2.37:g.234371288G>T						DGKD_ENST00000409813.3_Splice_Site		NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	26	3105	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)						Q14158|Q6PK55|Q8NG53	Splice_Site	SNP	ENST00000264057.2	37		CCDS2504.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410086	0.25465	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	.	.	.	4.08	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3888	0.60811	0.0:0.0:0.8412:0.1588	.	.	.	.	.	-1	.	.	.	+	.	.	DGKD	234036027	1.000000	0.71417	0.970000	0.41538	0.185000	0.23345	9.421000	0.97455	1.042000	0.40150	-0.181000	0.13052	.		0.592	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	Intron	8	113	8	113	---	---	---	---
KLHL30	377007	broad.mit.edu	37	2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:239049574C>T	ENST00000409223.1	+	2	286	c.179C>T	c.(178-180)gCc>gTc	p.A60V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	60	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TACTTCCATGCCATGTTTGCG	0.677																																						ENST00000409223.1																			0				lung(4)	4						c.(178-180)gCc>gTc		kelch-like family member 30							75.0	86.0	82.0					2																	239049574		2127	4226	6353	SO:0001583	missense	377007							g.chr2:239049574C>T		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.179C>T	2.37:g.239049574C>T	ENSP00000386389:p.Ala60Val					KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V	p.A60V			Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	2	286	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	60			BTB.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.179C>T	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476218	0.84640	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	T;T	0.69306	-0.39;-0.39	5.75	5.75	0.90469	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.328254	0.32640	N	0.005826	D	0.83362	0.5238	M	0.83384	2.64	0.42989	D	0.994487	D	0.71674	0.998	D	0.69142	0.962	D	0.85470	0.1172	10	0.87932	D	0	.	18.7132	0.91666	0.0:1.0:0.0:0.0	.	60	Q0D2K2	KLH30_HUMAN	V	60;42	ENSP00000386389:A60V;ENSP00000302386:A42V	ENSP00000302386:A42V	A	+	2	0	KLHL30	238714313	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	3.918000	0.56432	2.720000	0.93068	0.655000	0.94253	GCC		0.677	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1	NM_198582		22	47	22	47	---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:4847908G>A	ENST00000443694.2	+	52	7184	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000302640.8_Missense_Mutation_p.C2395Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2410					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGTGATCTGTGCCATGGGG	0.463																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(7183-7185)tGt>tAt		inositol 1,4,5-trisphosphate receptor, type 1							167.0	156.0	159.0					3																	4847908		1950	4155	6105	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4847908G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7184G>A	3.37:g.4847908G>A	ENSP00000401671:p.Cys2395Tyr					ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y	p.C2395Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	54	7534	+			2410					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.7184G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636955	0.87760	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98264	-2.9;-2.91;-2.91;-2.91;-2.91;-4.83;-2.9	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.80764	0.994;0.99;0.968	D	0.99806	1.1038	10	0.87932	D	0	.	18.8154	0.92075	0.0:0.0:1.0:0.0	.	373;2410;2362	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	Y	2410;2395;2395;2362;856;2362;2347;373;2395	ENSP00000306253:C2395Y;ENSP00000346595:C2395Y;ENSP00000405934:C2362Y;ENSP00000349597:C2362Y;ENSP00000397885:C2347Y;ENSP00000440564:C373Y;ENSP00000401671:C2395Y	ENSP00000306253:C2395Y	C	+	2	0	ITPR1	4822908	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.710000	0.98732	2.517000	0.84864	0.591000	0.81541	TGT		0.463	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		12	37	12	37	---	---	---	---
TADA3	10474	broad.mit.edu	37	3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T	rs547844232		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9825746C>T	ENST00000301964.2	-	8	1630	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000343450.2_Missense_Mutation_p.A358T|TADA3_ENST00000440161.1_Missense_Mutation_p.A358T	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1072-1074)Gcc>Acc		transcriptional adaptor 3							74.0	56.0	62.0					3																	9825746		2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9825746C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1072G>A	3.37:g.9825746C>T	ENSP00000307684:p.Ala358Thr					TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			8	1619	-			358					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.1072G>A	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894076	0.52121	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	6.17	0.99709	.	0.104365	0.64402	D	0.000004	T	0.52725	0.1752	L	0.45581	1.43	0.53688	D	0.999976	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44832	-0.9302	9	0.12103	T	0.63	-10.3611	13.2493	0.60041	0.0:0.9279:0.0:0.0721	.	358;358	O75528;A8K899	TADA3_HUMAN;.	T	358	.	ENSP00000307684:A358T	A	-	1	0	TADA3	9800746	0.996000	0.38824	0.992000	0.48379	0.796000	0.44982	2.550000	0.45811	2.941000	0.99782	0.655000	0.94253	GCC		0.627	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			5	20	5	20	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2164-2166)cGg>cAg		oxysterol binding protein-like 10							112.0	102.0	106.0					3																	31705656		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31705656C>T	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.2165G>A	3.37:g.31705656C>T	ENSP00000379804:p.Arg722Gln					OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	p.R722Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	11	2287	-			722					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.2165G>A	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.00|19.00	3.741318|3.741318	0.69304|0.69304	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000429492|ENST00000396556;ENST00000438237	.|T;T	.|0.27557	.|1.66;1.66	5.25|5.25	4.36|4.36	0.52297|0.52297	.|.	.|0.051590	.|0.85682	.|D	.|0.000000	T|T	0.21631|0.21631	0.0521|0.0521	N|N	0.17901|0.17901	0.54|0.54	0.37026|0.37026	D|D	0.89644|0.89644	.|D;B;P	.|0.58970	.|0.984;0.209;0.882	.|P;B;P	.|0.49597	.|0.616;0.049;0.523	T|T	0.03750|0.03750	-1.1007|-1.1007	5|10	.|0.10902	.|T	.|0.67	-24.6464|-24.6464	7.999|7.999	0.30286|0.30286	0.0:0.7756:0.0:0.2244|0.0:0.7756:0.0:0.2244	.|.	.|658;722;490	.|B4E212;Q9BXB5;Q59ED9	.|.;OSB10_HUMAN;.	S|Q	491|722;658	.|ENSP00000379804:R722Q;ENSP00000406124:R658Q	.|ENSP00000379804:R722Q	G|R	-|-	1|2	0|0	OSBPL10|OSBPL10	31680660|31680660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.824000|4.824000	0.62701|0.62701	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.602	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			6	66	6	66	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38038579	38038579	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	154					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(460-462)tcC>tcA		villin-like							123.0	114.0	117.0					3																	38038579		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38038579C>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.462C>A	3.37:g.38038579C>A			OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	VILL_ENST00000383759.2_Silent_p.S154S|VILL_ENST00000465644.1_Intron	p.S154S			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	728	+			154					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.462C>A	CCDS2670.2																																																																																				0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		6	71	6	71	---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(2185-2187)tGg>tTg		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						51.0	48.0	49.0					3																	45559536		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45559536G>T	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.2186G>T	3.37:g.45559536G>T	ENSP00000408576:p.Trp729Leu					LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L	p.W729L			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	17	2327	+			729						Missense_Mutation	SNP	ENST00000415258.1	37	c.2186G>T	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548566	0.27652	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	T;T;T	0.05855	3.38;3.38;3.38	5.66	3.72	0.42706	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.189858	0.49916	D	0.000133	T	0.08980	0.0222	L	0.46741	1.465	0.80722	D	1	P;P	0.51537	0.946;0.904	P;P	0.48598	0.583;0.583	T	0.17198	-1.0377	10	0.25106	T	0.35	-5.603	10.7222	0.46046	0.0695:0.0:0.8002:0.1303	.	686;729	E9PHM2;Q15031	.;SYLM_HUMAN	L	729;729;686	ENSP00000265537:W729L;ENSP00000408576:W729L;ENSP00000412893:W686L	ENSP00000265537:W729L	W	+	2	0	LARS2	45534540	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.059000	0.64306	2.666000	0.90696	0.655000	0.94253	TGG		0.517	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		7	22	7	22	---	---	---	---
GMPPB	29925	broad.mit.edu	37	3	49759676	49759676	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	AMIGO3_ENST00000320431.7_5'Flank|GMPPB_ENST00000308388.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308375.6_Silent_p.G252G			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|mannose-1-phosphate guanylyltransferase activity (GO:0004475)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602																																						ENST00000480687.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6						c.(754-756)ggC>ggT		GDP-mannose pyrophosphorylase B							67.0	70.0	69.0					3																	49759676		2203	4300	6503	SO:0001819	synonymous_variant	29925				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	g.chr3:49759676G>A	AF135421	CCDS2802.1, CCDS2803.1	3p21.31	2008-02-05			ENSG00000173540	ENSG00000173540	2.7.7.22		22932	protein-coding gene	gene with protein product		615320					Standard	NM_013334		Approved	KIAA1851	uc003cxl.1	Q9Y5P6	OTTHUMG00000158151	ENST00000480687.1:c.756C>T	3.37:g.49759676G>A						GMPPB_ENST00000308375.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000308388.6_Silent_p.G252G	p.G252G			Q9Y5P6	GMPPB_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	872	-			252					A8K6N5|Q9H7U3	Silent	SNP	ENST00000480687.1	37	c.756C>T	CCDS2803.1																																																																																				0.602	GMPPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350291.1	NM_013334		6	46	6	46	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52526219	52526219	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:52526219C>T	ENST00000479054.1	+	22	4308	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R	NISCH_ENST00000345716.4_Silent_p.R1412R			Q9Y2I1	NISCH_HUMAN	nischarin	1412					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATGGCCGCCGCGTCCGGGACC	0.627																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4234-4236)cgC>cgT		nischarin							69.0	72.0	71.0					3																	52526219		2203	4299	6502	SO:0001819	synonymous_variant	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526219C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4236C>T	3.37:g.52526219C>T						NISCH_ENST00000479054.1_Silent_p.R1412R	p.R1412R	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4370	+			1412					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Silent	SNP	ENST00000479054.1	37	c.4236C>T	CCDS33767.1																																																																																				0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		18	62	18	62	---	---	---	---
FAM208A	23272	broad.mit.edu	37	3	56682861	56682861	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:56682861C>T	ENST00000493960.2	-	13	1512	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000431842.2_Missense_Mutation_p.S105N	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	501							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTAACTATGCTTCTAGGTTC	0.308																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(313-315)aGc>aAc		family with sequence similarity 208, member A							40.0	42.0	41.0					3																	56682861		2202	4297	6499	SO:0001583	missense	23272							g.chr3:56682861C>T	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1502G>A	3.37:g.56682861C>T	ENSP00000417509:p.Ser501Asn					FAM208A_ENST00000355628.5_Missense_Mutation_p.S501N|FAM208A_ENST00000493960.2_Missense_Mutation_p.S501N	p.S105N	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			6	1238	-			501					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.314G>A	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028438	0.35797	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12569	2.67;2.85;2.85	5.92	3.11	0.35812	.	0.767063	0.12184	N	0.491801	T	0.10121	0.0248	L	0.34521	1.04	0.20873	N	0.99984	B;B;B	0.24426	0.103;0.0;0.002	B;B;B	0.22601	0.04;0.0;0.001	T	0.34625	-0.9821	10	0.34782	T	0.22	7.5452	5.6352	0.17532	0.1174:0.643:0.1134:0.1261	.	501;501;105	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	N	105;501;501	ENSP00000399410:S105N;ENSP00000417509:S501N;ENSP00000347845:S501N	ENSP00000347845:S501N	S	-	2	0	C3orf63	56657901	0.954000	0.32549	0.178000	0.23040	0.976000	0.68499	2.626000	0.46460	0.384000	0.24942	0.650000	0.86243	AGC		0.308	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		4	32	4	32	---	---	---	---
ALCAM	214	broad.mit.edu	37	3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000389927.4_Intron	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(958-960)aGc>aAc		activated leukocyte cell adhesion molecule							155.0	127.0	136.0					3																	105260577		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105260577G>A	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.959G>A	3.37:g.105260577G>A	ENSP00000305988:p.Ser320Asn					ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N|ALCAM_ENST00000481337.1_3'UTR	p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			8	1459	+			320			Ig-like C2-type 1.		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.959G>A	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748371	0.30955	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979	T;T;T	0.11385	2.78;2.78;2.78	6.17	2.4	0.29515	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.463544	0.30547	N	0.009393	T	0.05593	0.0147	N	0.16656	0.425	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.41484	-0.9506	10	0.24483	T	0.36	-5.5596	5.8367	0.18611	0.2728:0.1281:0.5991:0.0	.	320;320	B4DTU0;Q13740	.;CD166_HUMAN	N	320;320;269	ENSP00000305988:S320N;ENSP00000419236:S320N;ENSP00000418213:S269N	ENSP00000305988:S320N	S	+	2	0	ALCAM	106743267	0.998000	0.40836	0.953000	0.39169	0.999000	0.98932	1.055000	0.30467	0.169000	0.19679	0.655000	0.94253	AGC		0.428	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		9	74	9	74	---	---	---	---
SNX4	8723	broad.mit.edu	37	3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:125170172T>C	ENST00000251775.4	-	13	1306	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V	SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	428					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CTGATCTGCATGACTGCATAG	0.363																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1282-1284)Atg>Gtg		sorting nexin 4							187.0	185.0	186.0					3																	125170172		2203	4300	6503	SO:0001583	missense	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125170172T>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1282A>G	3.37:g.125170172T>C	ENSP00000251775:p.Met428Val					SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	p.M428V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			13	1306	-			428					B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.1282A>G	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726946	0.48833	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.41758	0.99;2.05	5.0	5.0	0.66597	.	0.037575	0.85682	D	0.000000	T	0.38772	0.1053	L	0.56769	1.78	0.58432	D	0.999996	B	0.09022	0.002	B	0.06405	0.002	T	0.23368	-1.0190	10	0.14656	T	0.56	-19.4935	14.8662	0.70419	0.0:0.0:0.0:1.0	.	428	O95219	SNX4_HUMAN	V	428;283	ENSP00000251775:M428V;ENSP00000440824:M283V	ENSP00000251775:M428V	M	-	1	0	SNX4	126652862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.150000	0.77403	2.095000	0.63458	0.477000	0.44152	ATG		0.363	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		19	138	19	138	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1801-1803)gAc>gTc		collagen, type VI, alpha 6							48.0	48.0	48.0					3																	130286065		1931	4117	6048	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130286065A>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1802A>T	3.37:g.130286065A>T	ENSP00000351310:p.Asp601Val					COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			4	1833	+			601			Nonhelical region.|VWFA 3.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1802A>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318571	0.40996	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.84146	-1.81;-1.81	5.51	4.35	0.52113	von Willebrand factor, type A (3);	0.287666	0.29948	N	0.010791	T	0.76737	0.4029	L	0.45581	1.43	0.44927	D	0.997942	B	0.19445	0.036	B	0.18871	0.023	T	0.69595	-0.5103	10	0.41790	T	0.15	.	3.1052	0.06339	0.6388:0.1451:0.0765:0.1396	.	601	A6NMZ7	CO6A6_HUMAN	V	601	ENSP00000351310:D601V;ENSP00000399236:D601V	ENSP00000351310:D601V	D	+	2	0	COL6A6	131768755	0.841000	0.29509	1.000000	0.80357	0.953000	0.61014	1.284000	0.33249	0.939000	0.37446	0.459000	0.35465	GAC		0.418	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		12	36	12	36	---	---	---	---
CP	1356	broad.mit.edu	37	3	148924002	148924002	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:148924002G>T	ENST00000264613.6	-	6	1423	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTATACCAGAGGGAGCATAGT	0.403																																						ENST00000264613.6																			1	Substitution - coding silent(1)	p.P387P(1)	lung(1)	breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1159-1161)ccC>ccA		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						131.0	130.0	130.0					3																	148924002		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148924002G>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1161C>A	3.37:g.148924002G>T							p.P387P	NM_000096.3	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		6	1423	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	387			F5/8 type A 2.|Plastocyanin-like 3.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.1161C>A	CCDS3141.1																																																																																				0.403	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		27	67	27	67	---	---	---	---
PFN2	5217	broad.mit.edu	37	3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization (GO:0030036)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|regulation of synaptic vesicle exocytosis (GO:2000300)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|terminal bouton (GO:0043195)	actin monomer binding (GO:0003785)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388																																						ENST00000239940.7																			1	Substitution - Missense(1)	p.G123R(1)	lung(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(367-369)Gga>Aga		profilin 2							315.0	328.0	323.0					3																	149684332		2203	4300	6503	SO:0001583	missense	5217				actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr3:149684332C>T	L10678	CCDS3148.1, CCDS46934.1	3q25.1	2006-10-16			ENSG00000070087	ENSG00000070087			8882	protein-coding gene	gene with protein product		176590				8975700, 8365484	Standard	NM_002628		Approved		uc003ext.1	P35080	OTTHUMG00000159683	ENST00000239940.7:c.367G>A	3.37:g.149684332C>T	ENSP00000239940:p.Gly123Arg					PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000423691.2_Intron	p.G123R			P35080	PROF2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		3	619	-			123					B2R4C8|D3DNI4|Q4VBQ4|Q8WVF9|Q9HBK2	Missense_Mutation	SNP	ENST00000239940.7	37	c.367G>A	CCDS3148.1	.	.	.	.	.	.	.	.	.	.	.	9.449	1.090009	0.20390	.	.	ENSG00000070087	ENST00000239940;ENST00000490975;ENST00000497148;ENST00000475518;ENST00000481275;ENST00000498307;ENST00000489155	D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.61	5.61	0.85477	.	0.456141	0.26213	N	0.025662	T	0.77545	0.4146	N	0.22421	0.69	0.80722	D	1	B	0.22276	0.067	B	0.11329	0.006	T	0.70821	-0.4768	10	0.18276	T	0.48	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	123	P35080	PROF2_HUMAN	R	123;108;74;74;74;74;74	ENSP00000239940:G123R;ENSP00000417351:G108R;ENSP00000417817:G74R;ENSP00000418142:G74R;ENSP00000418216:G74R;ENSP00000420202:G74R;ENSP00000420504:G74R	ENSP00000239940:G123R	G	-	1	0	PFN2	151167022	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.445000	0.80570	2.793000	0.96121	0.655000	0.94253	GGA		0.388	PFN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356873.2	NM_002628		30	377	30	377	---	---	---	---
TIPARP	25976	broad.mit.edu	37	3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A	rs200119519		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383																																					Ovarian(171;276 1987 3319 6837 11197)	ENST00000461166.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1036-1038)Gtc>Atc		TCDD-inducible poly(ADP-ribose) polymerase							155.0	153.0	153.0					3																	156411927		2203	4300	6503	SO:0001583	missense	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156411927G>A	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.1036G>A	3.37:g.156411927G>A	ENSP00000420612:p.Val346Ile					TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I	p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		3	1624	+			346			WWE.		D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Missense_Mutation	SNP	ENST00000461166.1	37	c.1036G>A	CCDS3177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.19|13.19	2.162881|2.162881	0.38217|0.38217	.|.	.|.	ENSG00000163659|ENSG00000163659	ENST00000495891|ENST00000486483;ENST00000295924;ENST00000461166;ENST00000473702;ENST00000481853;ENST00000542783	.|T;T;T;T;T;T	.|0.33654	.|1.4;1.4;1.4;1.4;1.4;1.4	5.14|5.14	3.15|3.15	0.36227|0.36227	.|WWE domain (1);	.|0.197939	.|0.42682	.|D	.|0.000675	T|T	0.28566|0.28566	0.0707|0.0707	L|L	0.51422|0.51422	1.61|1.61	0.36072|0.36072	D|D	0.842206|0.842206	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.16748|0.16748	-1.0392|-1.0392	5|10	.|0.35671	.|T	.|0.21	.|.	6.5637|6.5637	0.22501|0.22501	0.1538:0.0:0.6637:0.1825|0.1538:0.0:0.6637:0.1825	.|.	.|346	.|Q7Z3E1	.|PARPT_HUMAN	N|I	48|346	.|ENSP00000418757:V346I;ENSP00000295924:V346I;ENSP00000420612:V346I;ENSP00000419982:V346I;ENSP00000418829:V346I;ENSP00000438345:V346I	.|ENSP00000295924:V346I	S|V	+|+	2|1	0|0	TIPARP|TIPARP	157894621|157894621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.982000|2.982000	0.49337|0.49337	0.513000|0.513000	0.28278|0.28278	-0.136000|-0.136000	0.14681|0.14681	AGT|GTC		0.383	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		24	46	24	46	---	---	---	---
IL12A	3592	broad.mit.edu	37	3	159711354	159711354	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site|IL12A_ENST00000466512.1_Splice_Site	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.e5-1		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							121.0	118.0	119.0					3																	159711354		2203	4300	6503	SO:0001630	splice_region_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159711354G>A	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.421-1G>A	3.37:g.159711354G>A						IL12A_ENST00000466512.1_Splice_Site|IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Splice_Site		NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		5	727	+								Q96QZ1	Splice_Site	SNP	ENST00000305579.2	37		CCDS3187.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.743701	0.30865	.	.	ENSG00000168811	ENST00000305579;ENST00000480787;ENST00000466512	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2128	0.65776	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL12A	161194048	1.000000	0.71417	0.736000	0.30914	0.272000	0.26649	3.614000	0.54160	2.430000	0.82344	0.650000	0.86243	.		0.388	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882	Intron	8	84	8	84	---	---	---	---
NAALADL2	254827	broad.mit.edu	37	3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2287-2289)cAa>cGa		N-acetylated alpha-linked acidic dipeptidase-like 2							93.0	86.0	88.0					3																	175520891		1836	4094	5930	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520891A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2288A>G	3.37:g.175520891A>G	ENSP00000404705:p.Gln763Arg						p.Q763R	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2416	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	763					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.2288A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.653577	0.29425	.	.	ENSG00000177694	ENST00000454872	T	0.32272	1.46	5.67	4.52	0.55395	Transferrin receptor-like, dimerisation domain (2);	0.302494	0.28718	N	0.014379	T	0.19248	0.0462	L	0.27053	0.805	0.25197	N	0.990088	B	0.14012	0.009	B	0.12837	0.008	T	0.16335	-1.0406	10	0.30854	T	0.27	-15.3506	6.6592	0.23004	0.7919:0.0:0.072:0.1361	.	763	Q58DX5	NADL2_HUMAN	R	763	ENSP00000404705:Q763R	ENSP00000404705:Q763R	Q	+	2	0	NAALADL2	177003585	1.000000	0.71417	0.987000	0.45799	0.219000	0.24729	3.487000	0.53222	0.973000	0.38340	0.467000	0.42956	CAA		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		5	36	5	36	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178952026	178952026	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:178952026C>A	ENST00000263967.3	+	21	3238	c.3081C>A	c.(3079-3081)gcC>gcA	p.A1027A	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1027	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.A1027V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGACCCTAGCCTTAGATAAAA	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.A1027V(2)	skin(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3079-3081)gcC>gcA		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							94.0	84.0	87.0					3																	178952026		1876	4114	5990	SO:0001819	synonymous_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952026C>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3081C>A	3.37:g.178952026C>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1027A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3238	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1027			PI3K/PI4K.		Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	c.3081C>A	CCDS43171.1																																																																																				0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	75	14	75	---	---	---	---
TMEM128	85013	broad.mit.edu	37	4	4239662	4239662	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:4239662G>A	ENST00000382753.4	-	4	408	c.399C>T	c.(397-399)tgC>tgT	p.C133C	TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000254742.2_Splice_Site_p.C109C			Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343																																						ENST00000254742.2																			0				endometrium(1)|kidney(1)	2						c.(325-327)tgC>tgT		transmembrane protein 128							44.0	38.0	40.0					4																	4239662		2203	4300	6503	SO:0001630	splice_region_variant	85013					integral to membrane		g.chr4:4239662G>A	BC007729	CCDS3373.1, CCDS75099.1	4p16.3	2008-02-05			ENSG00000132406	ENSG00000132406			28201	protein-coding gene	gene with protein product							Standard	XM_005248034		Approved	MGC13159	uc003ghq.1	Q5BJH2	OTTHUMG00000125475	ENST00000382753.4:c.399-1C>T	4.37:g.4239662G>A						TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000540397.1_Splice_Site_p.C133C|TMEM128_ENST00000382753.4_Splice_Site_p.C133C	p.C109C	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	4	913	-			133					B4DHS7|D3DVS3|Q5H9U6|Q96I94	Splice_Site	SNP	ENST00000382753.4	37	c.327C>T																																																																																					0.343	TMEM128-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000246798.2	NM_032927	Silent	8	33	8	33	---	---	---	---
MAN2B2	23324	broad.mit.edu	37	4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	rs151180999		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6610853C>T	ENST00000285599.3	+	12	1870	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	612					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGAACGGTGCGCGTGACCCA	0.572																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1834-1836)Cgc>Tgc		mannosidase, alpha, class 2B, member 2		C	CYS/ARG	0,4406		0,0,2203	78.0	68.0	71.0		1834	1.2	0.0	4	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAN2B2	NM_015274.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	612/1010	6610853	1,13005	2203	4300	6503	SO:0001583	missense	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6610853C>T	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.1834C>T	4.37:g.6610853C>T	ENSP00000285599:p.Arg612Cys					MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	p.R612C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			12	1870	+			612					Q66MP2|Q86T67	Missense_Mutation	SNP	ENST00000285599.3	37	c.1834C>T	CCDS33951.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655469	0.47467	0.0	1.16E-4	ENSG00000013288	ENST00000285599;ENST00000504248	T;T	0.79141	-1.24;-1.24	4.26	1.25	0.21368	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.934003	0.09143	N	0.842730	T	0.80711	0.4675	L	0.53249	1.67	0.09310	N	0.999997	D;D;D	0.76494	0.999;0.997;0.976	P;P;P	0.60345	0.873;0.873;0.764	T	0.65578	-0.6134	10	0.37606	T	0.19	-1.3779	6.6487	0.22949	0.3125:0.5998:0.0:0.0876	.	561;612;612	E9PCD7;Q9Y2E5;Q9Y2E5-2	.;MA2B2_HUMAN;.	C	612;561	ENSP00000285599:R612C;ENSP00000423129:R561C	ENSP00000285599:R612C	R	+	1	0	MAN2B2	6661754	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	0.618000	0.24373	0.245000	0.21373	0.313000	0.20887	CGC		0.572	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		8	17	8	17	---	---	---	---
S100P	6286	broad.mit.edu	37	4	6695686	6695686	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	AC093323.1_ENST00000596858.1_5'Flank|S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CAGCCATGGGCATGATCATAG	0.587																																						ENST00000296370.3																			0				prostate(1)	1						c.(25-27)ggC>ggT		S100 calcium binding protein P	Cromoglicate(DB01003)						74.0	65.0	68.0					4																	6695686		2203	4300	6503	SO:0001819	synonymous_variant	6286				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding	g.chr4:6695686C>T	X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.27C>T	4.37:g.6695686C>T						S100P_ENST00000513778.1_Intron	p.G9G	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN		Colorectal(103;0.011)	1	891	+		Myeloproliferative disorder(84;0.0255)	9					Q5J7W2	Silent	SNP	ENST00000296370.3	37	c.27C>T	CCDS3391.1																																																																																				0.587	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206979.1	NM_005980		15	32	15	32	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(88-90)Gcc>Acc		potassium channel tetramerization domain containing 8							9.0	9.0	9.0					4																	44450453		2004	3955	5959	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450453C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.88G>A	4.37:g.44450453C>T	ENSP00000353129:p.Ala30Thr	HNSCC(17;0.042)					p.A30T	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	371	-			30					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.88G>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	3.092	-0.186603	0.06340	.	.	ENSG00000183783	ENST00000360029	T	0.38401	1.14	4.15	2.08	0.27032	.	0.932993	0.08828	N	0.887792	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.14578	0.011	T	0.31806	-0.9930	10	0.11182	T	0.66	.	7.5936	0.28035	0.2321:0.5989:0.1689:0.0	.	30	Q6ZWB6	KCTD8_HUMAN	T	30	ENSP00000353129:A30T	ENSP00000353129:A30T	A	-	1	0	KCTD8	44145210	0.996000	0.38824	0.002000	0.10522	0.262000	0.26303	-0.159000	0.10056	0.163000	0.19507	0.467000	0.42956	GCC		0.687	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	4	4	4	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57876617	57876617	+	Silent	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Silent_p.R424R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1495-1497)Aga>Cga		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							127.0	128.0	128.0					4																	57876617		2203	4300	6503	SO:0001819	synonymous_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876617A>C		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1495A>C	4.37:g.57876617A>C						POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000314595.5_Silent_p.R499R|POLR2B_ENST00000510355.1_3'UTR	p.R499R			P30876	RPB2_HUMAN			12	1908	+	Glioma(25;0.08)|all_neural(26;0.181)		499					A8K1A8|Q8IZ61	Silent	SNP	ENST00000381227.1	37	c.1495A>C	CCDS3511.1																																																																																				0.428	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		32	58	32	58	---	---	---	---
TMPRSS11B	132724	broad.mit.edu	37	4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C	rs376428535		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284																																						ENST00000332644.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(238-240)Aag>Gag		transmembrane protease, serine 11B		T	GLU/LYS	0,4386		0,0,2193	40.0	40.0	40.0		238	1.6	0.9	4		40	1,8581	1.2+/-3.3	0,1,4290	no	missense	TMPRSS11B	NM_182502.3	56	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	possibly-damaging	80/417	69101871	1,12967	2193	4291	6484	SO:0001583	missense	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69101871T>C	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.238A>G	4.37:g.69101871T>C	ENSP00000330475:p.Lys80Glu						p.K80E	NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN			3	399	-			80			SEA.		A8K4D9	Missense_Mutation	SNP	ENST00000332644.5	37	c.238A>G	CCDS3521.1	.	.	.	.	.	.	.	.	.	.	T	5.825	0.336475	0.11013	0.0	1.17E-4	ENSG00000185873	ENST00000332644	T	0.37584	1.19	4.1	1.64	0.23874	SEA (2);	0.352647	0.20492	N	0.091268	T	0.26702	0.0653	L	0.49350	1.555	0.26163	N	0.979977	P	0.45176	0.852	B	0.42462	0.388	T	0.07693	-1.0759	10	0.20519	T	0.43	.	3.7021	0.08386	0.0:0.118:0.2277:0.6543	.	80	Q86T26	TM11B_HUMAN	E	80	ENSP00000330475:K80E	ENSP00000330475:K80E	K	-	1	0	TMPRSS11B	68784466	0.097000	0.21791	0.881000	0.34555	0.960000	0.62799	0.190000	0.17057	0.710000	0.31997	0.477000	0.44152	AAG		0.284	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		11	20	11	20	---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453																																						ENST00000312465.7																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(529-531)Gca>Tca		fibroblast growth factor 5							110.0	124.0	119.0					4																	81207548		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81207548G>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.529G>T	4.37:g.81207548G>T	ENSP00000311697:p.Ala177Ser					FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	p.A177S	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN			3	755	+			177					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.529G>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.360356	0.41801	.	.	ENSG00000138675	ENST00000312465	D	0.81908	-1.55	5.82	5.82	0.92795	.	0.144362	0.64402	D	0.000007	T	0.81498	0.4835	L	0.41079	1.255	0.80722	D	1	P	0.41232	0.743	P	0.45946	0.498	T	0.75895	-0.3156	10	0.10636	T	0.68	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	177	P12034	FGF5_HUMAN	S	177	ENSP00000311697:A177S	ENSP00000311697:A177S	A	+	1	0	FGF5	81426572	1.000000	0.71417	0.970000	0.41538	0.008000	0.06430	7.895000	0.87343	2.758000	0.94735	0.650000	0.86243	GCA		0.453	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			6	91	6	91	---	---	---	---
GPRIN3	285513	broad.mit.edu	37	4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:90169157G>C	ENST00000609438.1	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502																																						ENST00000609438.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(2104-2106)gCa>gGa		GPRIN family member 3							72.0	69.0	70.0					4																	90169157		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90169157G>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.2105C>G	4.37:g.90169157G>C	ENSP00000476603:p.Ala702Gly					GPRIN3_ENST00000333209.4_Missense_Mutation_p.A702G	p.A702G	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	2623	-		Hepatocellular(203;0.114)						Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.2105C>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659069	0.47467	.	.	ENSG00000185477	ENST00000333209	T	0.24538	1.85	5.12	5.12	0.69794	.	0.248643	0.21192	N	0.078633	T	0.18676	0.0448	N	0.14661	0.345	0.39830	D	0.972961	B	0.29805	0.257	B	0.25614	0.062	T	0.10245	-1.0638	10	0.59425	D	0.04	-8.5156	18.7493	0.91807	0.0:0.0:1.0:0.0	.	702	Q6ZVF9	GRIN3_HUMAN	G	702	ENSP00000328672:A702G	ENSP00000328672:A702G	A	-	2	0	GPRIN3	90388180	1.000000	0.71417	0.958000	0.39756	0.167000	0.22549	6.231000	0.72307	2.654000	0.90174	0.655000	0.94253	GCA		0.502	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		6	35	6	35	---	---	---	---
STPG2	285555	broad.mit.edu	37	4	98633951	98633951	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:98633951T>C	ENST00000295268.3	-	10	1308	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	STPG2_ENST00000506482.1_5'UTR	NM_174952.2	NP_777612.1	Q8N412	STPG2_HUMAN	sperm-tail PG-rich repeat containing 2	407																	AAAACAGGATTGTATGCTGCA	0.348																																						ENST00000295268.3																			0											c.(1219-1221)Aat>Gat		sperm-tail PG-rich repeat containing 2							94.0	96.0	96.0					4																	98633951		2203	4300	6503	SO:0001583	missense	285555							g.chr4:98633951T>C	BC036870	CCDS3645.1	4q22.3-q23	2013-10-11	2012-07-30	2012-07-30	ENSG00000163116	ENSG00000163116			28712	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 37"""	C4orf37		23031811	Standard	NM_174952		Approved	MGC46496	uc003htt.2	Q8N412	OTTHUMG00000131009	ENST00000295268.3:c.1219A>G	4.37:g.98633951T>C	ENSP00000295268:p.Asn407Asp					STPG2_ENST00000506482.1_5'UTR	p.N407D	NM_174952.2	NP_777612.1					10	1308	-									Missense_Mutation	SNP	ENST00000295268.3	37	c.1219A>G	CCDS3645.1	.	.	.	.	.	.	.	.	.	.	T	0.560	-0.845677	0.02671	.	.	ENSG00000163116	ENST00000522676;ENST00000295268	T;T	0.44482	0.92;2.66	4.85	-0.914	0.10497	.	0.738198	0.12877	N	0.431808	T	0.20981	0.0505	N	0.17674	0.51	0.20196	N	0.999926	B	0.14438	0.01	B	0.16289	0.015	T	0.22626	-1.0211	10	0.16896	T	0.51	-15.5002	4.9319	0.13921	0.1283:0.3047:0.0:0.567	.	407	Q8N412	CD037_HUMAN	D	121;407	ENSP00000428346:N121D;ENSP00000295268:N407D	ENSP00000295268:N407D	N	-	1	0	C4orf37	98852974	1.000000	0.71417	0.330000	0.25442	0.141000	0.21300	1.242000	0.32755	0.008000	0.14787	-0.297000	0.09499	AAT		0.348	STPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253642.1	NM_174952		17	13	17	13	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448																																						ENST00000296575.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(679-681)Cgg>Tgg		hedgehog interacting protein							124.0	136.0	132.0					4																	145580838		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145580838C>T	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.679C>T	4.37:g.145580838C>T	ENSP00000296575:p.Arg227Trp					HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	p.R227W	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	4	1334	+	all_hematologic(180;0.151)		227					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.679C>T	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806513	0.70682	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.53423	2.72;0.62	5.54	4.61	0.57282	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.094804	0.64402	D	0.000001	T	0.64875	0.2638	M	0.70595	2.14	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.985	T	0.67173	-0.5737	10	0.72032	D	0.01	-12.2996	11.0696	0.47995	0.4104:0.5896:0.0:0.0	.	227;227	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	W	227	ENSP00000296575:R227W;ENSP00000408587:R227W	ENSP00000296575:R227W	R	+	1	2	HHIP	145800288	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.304000	0.51866	2.620000	0.88729	0.555000	0.69702	CGG		0.448	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			12	132	12	132	---	---	---	---
OTUD4	54726	broad.mit.edu	37	4	146058591	146058591	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:146058591C>T	ENST00000447906.2	-	21	3523	c.3336G>A	c.(3334-3336)caG>caA	p.Q1112Q	OTUD4_ENST00000454497.2_Silent_p.Q1047Q|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	1112					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3139-3141)caG>caA		OTU domain containing 4							147.0	140.0	142.0					4																	146058591		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146058591C>T		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.3336G>A	4.37:g.146058591C>T						OTUD4_ENST00000447906.2_Silent_p.Q1112Q|OTUD4_ENST00000455611.2_Intron	p.Q1047Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	3278	-	all_hematologic(180;0.151)		1111					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.3141G>A																																																																																					0.433	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		14	138	14	138	---	---	---	---
NR3C2	4306	broad.mit.edu	37	4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:149002640T>A	ENST00000358102.3	-	9	3172	c.2810A>T	c.(2809-2811)gAc>gTc	p.D937V	NR3C2_ENST00000355292.3_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V|NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	937	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	TTCCAGCAGGTCGCTCACCAG	0.572																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2821-2823)gAc>gTc		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						48.0	47.0	47.0					4																	149002640		2203	4300	6503	SO:0001583	missense	4306				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149002640T>A	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2810A>T	4.37:g.149002640T>A	ENSP00000350815:p.Asp937Val					NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V	p.D941V			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	9	3184	-	all_hematologic(180;0.151)		937			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2822A>T	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777759	0.70107	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69	5.92	5.92	0.95590	.	0.102279	0.64402	D	0.000002	D	0.95030	0.8391	L	0.36672	1.1	0.80722	D	1	D;D	0.60575	0.988;0.962	P;P	0.54965	0.765;0.662	D	0.94326	0.7558	9	.	.	.	.	16.3636	0.83296	0.0:0.0:0.0:1.0	.	820;937	B0ZBF5;B0ZBF6	.;.	V	937;941;937;820;941	ENSP00000341390:D937V;ENSP00000347441:D941V;ENSP00000350815:D937V;ENSP00000423510:D820V;ENSP00000421481:D941V	.	D	-	2	0	NR3C2	149222090	1.000000	0.71417	0.993000	0.49108	0.929000	0.56500	4.602000	0.61098	2.267000	0.75376	0.528000	0.53228	GAC		0.572	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			17	29	17	29	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152053535	152053535	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:152053535C>T	ENST00000409252.2	-	17	2626	c.1919G>A	c.(1918-1920)aGc>aAc	p.S640N	SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000427414.2_Splice_Site_p.S581N|SH3D19_ENST00000409598.4_Splice_Site_p.S617N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640					cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(1849-1851)aGc>aAc		SH3 domain containing 19							102.0	88.0	93.0					4																	152053535		2203	4300	6503	SO:0001630	splice_region_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152053535C>T	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1919-1G>A	4.37:g.152053535C>T						SH3D19_ENST00000304527.4_Splice_Site_p.S640N|SH3D19_ENST00000424281.1_Splice_Site_p.S581N|SH3D19_ENST00000409252.2_Splice_Site_p.S640N|SH3D19_ENST00000455740.1_Splice_Site_p.S617N|SH3D19_ENST00000514152.1_Splice_Site_p.S617N|SH3D19_ENST00000427414.2_Splice_Site_p.S581N	p.S617N			Q5HYK7	SH319_HUMAN			17	3017	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	640			SH3 3.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Splice_Site	SNP	ENST00000409252.2	37	c.1850G>A	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740784	0.49151	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70399	-0.48;0.13;-0.48;-0.47;-0.47;0.13;-0.48	5.07	4.23	0.50019	.	1.129920	0.06599	N	0.753523	T	0.70859	0.3272	M	0.65975	2.015	0.36514	D	0.869758	B;B;B;B	0.25609	0.027;0.074;0.13;0.083	B;B;B;B	0.25884	0.027;0.022;0.064;0.025	T	0.63079	-0.6717	10	0.42905	T	0.14	.	10.9306	0.47215	0.0:0.9142:0.0:0.0858	.	640;617;581;395	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	N	617;640;617;581;581;640;617	ENSP00000387030:S617N;ENSP00000302913:S640N;ENSP00000416708:S617N;ENSP00000404542:S581N;ENSP00000415694:S581N;ENSP00000386848:S640N;ENSP00000423449:S617N	ENSP00000302913:S640N	S	-	2	0	SH3D19	152272985	0.996000	0.38824	0.998000	0.56505	0.993000	0.82548	0.474000	0.22148	1.370000	0.46153	0.655000	0.94253	AGC		0.408	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555	Missense_Mutation	3	25	3	25	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTTCACGCCCTTCCAGAGGC	0.637																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(769-771)aaG>aaT		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						111.0	95.0	100.0					5																	1422012		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1422012C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.771G>T	5.37:g.1422012C>A	ENSP00000270349:p.Lys257Asn					SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		5	898	-			257					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.771G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709582	0.48517	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.80909	-1.43;-1.43;-1.43	4.4	2.13	0.27403	.	0.110904	0.64402	D	0.000013	D	0.87485	0.6189	M	0.82923	2.615	0.46849	D	0.999224	D	0.89917	1.0	D	0.81914	0.995	D	0.86374	0.1725	10	0.87932	D	0	.	6.8239	0.23872	0.0:0.7116:0.0:0.2884	.	257	Q01959	SC6A3_HUMAN	N	257;257;183	ENSP00000270349:K257N;ENSP00000399806:K257N;ENSP00000429101:K183N	ENSP00000270349:K257N	K	-	3	2	SLC6A3	1475012	0.995000	0.38212	0.998000	0.56505	0.477000	0.33069	0.317000	0.19487	0.960000	0.38005	0.462000	0.41574	AAG		0.637	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		15	56	15	56	---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64629882	64629882	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264																																						ENST00000536360.1																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18						c.(1102-1104)ccC>ccA		ADAM metallopeptidase with thrombospondin type 1 motif, 6							50.0	55.0	53.0					5																	64629882		2200	4298	6498	SO:0001819	synonymous_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64629882G>T	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1104C>A	5.37:g.64629882G>T							p.P368P			Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	8	1917	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	368			Peptidase M12B.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Silent	SNP	ENST00000536360.1	37	c.1104C>A																																																																																					0.264	ADAMTS6-201	KNOWN	basic	protein_coding	protein_coding		NM_197941		10	26	10	26	---	---	---	---
ENC1	8507	broad.mit.edu	37	5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	426					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGGGCCACCATGGTCCATTT	0.552																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1276-1278)aTg>aCg		ectodermal-neural cortex 1 (with BTB domain)							56.0	62.0	60.0					5																	73931034		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931034A>G	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1277T>C	5.37:g.73931034A>G	ENSP00000306356:p.Met426Thr					ENC1_ENST00000537006.1_Missense_Mutation_p.M426T|ENC1_ENST00000510316.1_Missense_Mutation_p.M353T	p.M426T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2407	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	426					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.1277T>C	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.327313	0.41197	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.76060	-0.99;-0.99;-0.99	5.89	5.89	0.94794	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	N	0.05383	-0.06	0.80722	D	1	B	0.15719	0.014	B	0.23716	0.048	T	0.54323	-0.8311	10	0.18710	T	0.47	.	16.3123	0.82883	1.0:0.0:0.0:0.0	.	426	O14682	ENC1_HUMAN	T	426;353;426	ENSP00000306356:M426T;ENSP00000423804:M353T;ENSP00000446289:M426T	ENSP00000306356:M426T	M	-	2	0	ENC1	73966790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.333000	0.96459	2.254000	0.74563	0.459000	0.35465	ATG		0.552	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		20	45	20	45	---	---	---	---
P4HA2	8974	broad.mit.edu	37	5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279					peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|procollagen-proline 4-dioxygenase complex (GO:0016222)	electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512																																					Esophageal Squamous(68;117 1135 17362 19256 34242)	ENST00000401867.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(835-837)aGg>aTg		prolyl 4-hydroxylase, alpha polypeptide II	L-Proline(DB00172)|Succinic acid(DB00139)						230.0	221.0	224.0					5																	131544898		2203	4300	6503	SO:0001583	missense	8974					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	g.chr5:131544898C>A	U90441	CCDS4151.1, CCDS34230.1	5q31	2008-12-09	2008-12-09		ENSG00000072682	ENSG00000072682	1.14.11.2		8547	protein-coding gene	gene with protein product	"""4-PH alpha 2"", ""collagen prolyl 4-hydroxylase alpha(II)"""	600608	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II"""			9211872, 9149945	Standard	NM_001142598		Approved	C-P4Halpha(II)	uc003kwl.3	O15460	OTTHUMG00000059647	ENST00000401867.1:c.836G>T	5.37:g.131544898C>A	ENSP00000384999:p.Arg279Met					P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M	p.R279M			O15460	P4HA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1404	-		all_cancers(142;0.103)|Breast(839;0.198)	279					D3DQ85|D3DQ86|Q8WWN0	Missense_Mutation	SNP	ENST00000401867.1	37	c.836G>T	CCDS4151.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828479	0.90955	.	.	ENSG00000072682	ENST00000401867;ENST00000379086;ENST00000166534;ENST00000360568;ENST00000379104;ENST00000379100	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61009	0.2313	L	0.54323	1.7	0.80722	D	1	D;D	0.54207	0.964;0.965	P;P	0.56474	0.634;0.799	T	0.56739	-0.7929	10	0.40728	T	0.16	-19.5063	19.7739	0.96383	0.0:1.0:0.0:0.0	.	279;279	O15460;O15460-2	P4HA2_HUMAN;.	M	279	ENSP00000384999:R279M;ENSP00000368379:R279M;ENSP00000166534:R279M;ENSP00000353772:R279M;ENSP00000368398:R279M;ENSP00000368394:R279M	ENSP00000166534:R279M	R	-	2	0	P4HA2	131572797	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.552000	0.67281	2.744000	0.94065	0.655000	0.94253	AGG		0.512	P4HA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132653.4	NM_004199		7	127	7	127	---	---	---	---
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53.0	57.0	56.0					5																	140176038		2203	4300	6503	SO:0001583	missense	56146							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		7	62	7	62	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1609-1611)gcG>gcA									75.0	84.0	81.0					5																	140256668		2203	4298	6501	SO:0001819	synonymous_variant	56137							g.chr5:140256668G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1611G>A	5.37:g.140256668G>A						PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.A537A	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.1611G>A	CCDS47285.1																																																																																				0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		50	97	50	97	---	---	---	---
DUSP1	1843	broad.mit.edu	37	5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642																																						ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1027-1029)Gtc>Atc		dual specificity phosphatase 1							111.0	106.0	107.0					5																	172195842		2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195842C>T	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1027G>A	5.37:g.172195842C>T	ENSP00000239223:p.Val343Ile					RP11-779O18.3_ENST00000523005.1_RNA	p.V343I	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1269	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	343			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.1027G>A	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971562	0.92919	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02301	4.35	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.06554	0.0168	L	0.44542	1.39	0.58432	D	0.999998	D;D	0.71674	0.996;0.998	P;P	0.54060	0.606;0.741	T	0.33904	-0.9850	10	0.51188	T	0.08	.	18.8778	0.92345	0.0:1.0:0.0:0.0	.	343;300	P28562;B4DNT2	DUS1_HUMAN;.	I	343;316;278	ENSP00000239223:V343I	ENSP00000239223:V343I	V	-	1	0	DUSP1	172128448	1.000000	0.71417	0.968000	0.41197	0.975000	0.68041	7.776000	0.85560	2.522000	0.85027	0.655000	0.94253	GTC		0.642	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		7	60	7	60	---	---	---	---
DHX16	8449	broad.mit.edu	37	6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	DHX16_ENST00000480966.1_5'Flank|DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1426-1428)Gag>Aag		DEAH (Asp-Glu-Ala-His) box polypeptide 16							51.0	61.0	57.0					6																	30630690		1509	2707	4216	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30630690C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1426G>A	6.37:g.30630690C>T	ENSP00000365625:p.Glu476Lys						p.E476K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			8	1621	-			476			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1426G>A	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	C	36	5.931048	0.97116	.	.	ENSG00000204560	ENST00000376442	T	0.29655	1.56	5.91	5.91	0.95273	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.118480	0.56097	D	0.000022	T	0.50769	0.1635	M	0.80332	2.49	0.80722	D	1	D;P	0.55605	0.972;0.786	P;P	0.61070	0.883;0.665	T	0.53683	-0.8404	10	0.87932	D	0	.	19.0726	0.93145	0.0:1.0:0.0:0.0	.	416;476	B4DZ28;O60231	.;DHX16_HUMAN	K	476	ENSP00000365625:E476K	ENSP00000365625:E476K	E	-	1	0	DHX16	30738669	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.255000	0.78338	2.809000	0.96659	0.555000	0.69702	GAG		0.587	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		10	34	10	34	---	---	---	---
USP45	85015	broad.mit.edu	37	6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(2188-2190)tAc>tGc		ubiquitin specific peptidase 45							113.0	100.0	105.0					6																	99885247		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99885247T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.2189A>G	6.37:g.99885247T>C	ENSP00000333376:p.Tyr730Cys					USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C	p.Y730C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	17	2721	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	730					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.2189A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760722	0.49468	.	.	ENSG00000123552	ENST00000392738;ENST00000500704;ENST00000327681;ENST00000539675;ENST00000369233	T;T;T;T;T	0.74632	-0.86;1.95;1.95;-0.86;-0.86	5.65	4.49	0.54785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.073354	0.56097	N	0.000025	D	0.87845	0.6280	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90607	0.4549	10	0.87932	D	0	.	11.4189	0.49969	0.0:0.0707:0.0:0.9293	.	730;410	Q70EL2;Q70EL2-3	UBP45_HUMAN;.	C	410;730;730;23;682	ENSP00000376495:Y410C;ENSP00000424372:Y730C;ENSP00000333376:Y730C;ENSP00000439569:Y23C;ENSP00000358236:Y682C	ENSP00000333376:Y730C	Y	-	2	0	USP45	99991968	1.000000	0.71417	1.000000	0.80357	0.124000	0.20399	7.535000	0.82014	0.980000	0.38523	-0.326000	0.08463	TAC		0.363	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		15	19	15	19	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L|LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	871	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTCCGGCCGCTTCACAGG	0.473																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2611-2613)cGg>cTg		laminin, alpha 4							120.0	118.0	119.0					6																	112463376		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112463376C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2612G>T	6.37:g.112463376C>A	ENSP00000230538:p.Arg871Leu					LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L|LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L	p.R871L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	3009	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	871			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2612G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	8.883	0.952206	0.18431	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.15017	2.47;2.46;2.46;2.46	6.16	-0.671	0.11381	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	1.023750	0.07750	N	0.948347	T	0.02380	0.0073	N	0.08118	0	0.09310	N	0.999995	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46857	-0.9161	10	0.31617	T	0.26	.	7.4918	0.27466	0.0:0.1218:0.348:0.5302	.	871;864	Q16363;Q16363-2	LAMA4_HUMAN;.	L	871;864;864;864	ENSP00000230538:R871L;ENSP00000429488:R864L;ENSP00000374114:R864L;ENSP00000416470:R864L	ENSP00000230538:R871L	R	-	2	0	LAMA4	112570069	0.051000	0.20477	0.036000	0.18154	0.001000	0.01503	-0.337000	0.07852	0.171000	0.19730	-1.258000	0.01471	CGG		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		17	38	17	38	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127796901	127796901	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:127796901G>A	ENST00000525778.1	-	6	3015	c.2270C>T	c.(2269-2271)gCg>gTg	p.A757V	SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000556132.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	757					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTTCTTGCCCGCGTCGCTCTC	0.697																																						ENST00000556132.1																			0											c.(2269-2271)gCg>gTg		SOGA family member 3							39.0	46.0	44.0					6																	127796901		2130	4229	6359	SO:0001583	missense	387104					integral to membrane		g.chr6:127796901G>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2270C>T	6.37:g.127796901G>A	ENSP00000434570:p.Ala757Val					SOGA3_ENST00000525778.1_Missense_Mutation_p.A757V|SOGA3_ENST00000465909.2_Missense_Mutation_p.A757V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A757V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A757V	p.A757V	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3134	-			757						Missense_Mutation	SNP	ENST00000525778.1	37	c.2270C>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406340	0.62288	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.285709	0.38005	N	0.001858	T	0.23249	0.0562	L	0.49126	1.545	0.48975	D	0.999737	P	0.48089	0.905	B	0.41440	0.357	T	0.06463	-1.0825	10	0.62326	D	0.03	-8.9632	18.91	0.92479	0.0:0.0:1.0:0.0	.	757	Q5TF21	CF174_HUMAN	V	757	ENSP00000451768:A757V;ENSP00000357251:A757V;ENSP00000434570:A757V;ENSP00000435559:A757V	ENSP00000435559:A757V	A	-	2	0	C6orf174	127838594	0.998000	0.40836	0.999000	0.59377	0.862000	0.49288	2.412000	0.44609	2.476000	0.83614	0.462000	0.41574	GCG		0.697	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		7	40	7	40	---	---	---	---
CNKSR3	154043	broad.mit.edu	37	6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATCGTGGCGCTGCTGTGG	0.572																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(1543-1545)Gcc>Acc		CNKSR family member 3							150.0	126.0	134.0					6																	154727613		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727613C>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1543G>A	6.37:g.154727613C>T	ENSP00000475915:p.Ala515Thr					CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T	p.A515T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2087	-		Ovarian(120;0.196)	515			DUF1170.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1543G>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937372	0.92458	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.57436	1.06;0.4;0.43	4.93	4.93	0.64822	Connector enhancer of kinase suppressor of ras 2 (1);	0.057446	0.64402	D	0.000002	T	0.51669	0.1688	L	0.56769	1.78	0.32146	N	0.5849	D	0.63046	0.992	P	0.55345	0.774	T	0.57602	-0.7783	10	0.72032	D	0.01	.	13.4752	0.61303	0.1567:0.8433:0.0:0.0	.	515	Q6P9H4	CNKR3_HUMAN	T	515;340;435	ENSP00000356182:A515T;ENSP00000414185:A340T;ENSP00000418975:A435T	ENSP00000356182:A515T	A	-	1	0	CNKSR3	154769305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.393000	0.59665	2.444000	0.82710	0.655000	0.94253	GCC		0.572	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		4	60	4	60	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715064	165715064	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:165715064C>T	ENST00000230301.8	-	2	767	c.747G>A	c.(745-747)ctG>ctA	p.L249L	C6orf118_ENST00000543069.1_Silent_p.L145L	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(433-435)ctG>ctA		chromosome 6 open reading frame 118							50.0	53.0	52.0					6																	165715064		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715064C>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.747G>A	6.37:g.165715064C>T						C6orf118_ENST00000230301.8_Silent_p.L249L	p.L145L			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	1016	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	249					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.435G>A	CCDS5288.1																																																																																				0.607	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		7	83	7	83	---	---	---	---
MIOS	54468	broad.mit.edu	37	7	7645694	7645694	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388																																						ENST00000340080.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2521-2523)agT>agC		missing oocyte, meiosis regulator, homolog (Drosophila)							278.0	253.0	261.0					7																	7645694		1964	4158	6122	SO:0001819	synonymous_variant	54468							g.chr7:7645694T>C		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2523T>C	7.37:g.7645694T>C						MIOS_ENST00000405785.1_Silent_p.S841S	p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN			12	2944	+			841					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2523T>C	CCDS43554.1																																																																																				0.388	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		47	89	47	89	---	---	---	---
PRPS1L1	221823	broad.mit.edu	37	7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428																																						ENST00000506618.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(838-840)Aag>Gag		phosphoribosyl pyrophosphate synthetase 1-like 1							191.0	190.0	191.0					7																	18066568		2201	4300	6501	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066568T>C	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.838A>G	7.37:g.18066568T>C	ENSP00000424595:p.Lys280Glu						p.K280E	NM_175886.2	NP_787082	P21108	PRPS3_HUMAN			1	918	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		280					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.838A>G	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960494	0.34565	.	.	ENSG00000229937	ENST00000506618	D	0.91011	-2.77	4.44	3.28	0.37604	.	.	.	.	.	T	0.80534	0.4641	N	0.20845	0.615	.	.	.	B	0.20671	0.047	B	0.21917	0.037	T	0.73007	-0.4118	8	0.10636	T	0.68	.	8.2583	0.31769	0.0:0.0964:0.0:0.9036	.	280	P21108	PRPS3_HUMAN	E	280	ENSP00000424595:K280E	ENSP00000424595:K280E	K	-	1	0	PRPS1L1	18033093	1.000000	0.71417	0.980000	0.43619	0.798000	0.45092	5.558000	0.67319	0.857000	0.35407	0.528000	0.53228	AAG		0.428	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		46	79	46	79	---	---	---	---
STK31	56164	broad.mit.edu	37	7	23826531	23826531	+	Silent	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:23826531T>A	ENST00000355870.3	+	20	2594	c.2475T>A	c.(2473-2475)ccT>ccA	p.P825P	STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Silent_p.P802P|STK31_ENST00000428484.1_Silent_p.P802P	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363																																						ENST00000354639.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2404-2406)ccT>ccA		serine/threonine kinase 31							164.0	151.0	155.0					7																	23826531		2203	4300	6503	SO:0001819	synonymous_variant	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23826531T>A	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2475T>A	7.37:g.23826531T>A						STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000433467.2_Silent_p.P825P|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000405627.3_3'UTR	p.P802P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN			20	2870	+			825			Protein kinase.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	c.2406T>A	CCDS5386.1																																																																																				0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		7	89	7	89	---	---	---	---
C7orf57	136288	broad.mit.edu	37	7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	43										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGATCCCAGGTCTCAGCAAT	0.537																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(127-129)gGt>gTt		chromosome 7 open reading frame 57							52.0	56.0	55.0					7																	48081003		1920	4144	6064	SO:0001583	missense	136288							g.chr7:48081003G>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.128G>T	7.37:g.48081003G>T	ENSP00000335500:p.Gly43Val					C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V|C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V	p.G43V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	340	+			43					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.128G>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465547	0.63513	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72114	-0.4388	10	0.66056	D	0.02	-18.7036	17.2972	0.87173	0.0:0.0:1.0:0.0	.	43	Q8NEG2	CG057_HUMAN	V	88;88;43;43	ENSP00000394648:G88V;ENSP00000410944:G88V;ENSP00000335500:G43V;ENSP00000442474:G43V	ENSP00000335500:G43V	G	+	2	0	C7orf57	48047528	1.000000	0.71417	0.954000	0.39281	0.312000	0.27988	6.127000	0.71642	2.670000	0.90874	0.563000	0.77884	GGT		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		10	27	10	27	---	---	---	---
FZD9	8326	broad.mit.edu	37	7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled class receptor 9	300					B cell differentiation (GO:0030183)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuroblast proliferation (GO:0007405)|vasculature development (GO:0001944)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632																																					Pancreas(144;909 1878 36867 38226 39554)	ENST00000344575.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14						c.(898-900)Gcg>Acg		frizzled family receptor 9							102.0	93.0	96.0					7																	72849235		2202	4300	6502	SO:0001583	missense	8326				B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr7:72849235G>A	U82169	CCDS5548.1	7q11.23	2014-01-29	2014-01-29		ENSG00000188763	ENSG00000188763		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4047	protein-coding gene	gene with protein product		601766	"""frizzled (Drosophila) homolog 9"", ""frizzled homolog 9 (Drosophila)"", ""frizzled 9, seven transmembrane spanning receptor"", ""frizzled family receptor 9"""			9147651, 10198163	Standard	NM_003508		Approved	FZD3, CD349	uc003tyb.3	O00144	OTTHUMG00000023051	ENST00000344575.3:c.898G>A	7.37:g.72849235G>A	ENSP00000345785:p.Ala300Thr						p.A300T	NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN			1	1127	+		Lung NSC(55;0.0659)|all_lung(88;0.152)	300						Missense_Mutation	SNP	ENST00000344575.3	37	c.898G>A	CCDS5548.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274937	0.40194	.	.	ENSG00000188763	ENST00000344575	T	0.44881	0.91	4.1	4.1	0.47936	GPCR, family 2-like (1);	0.215143	0.37348	U	0.002121	T	0.35098	0.0920	N	0.25647	0.755	0.38962	D	0.958568	P	0.45957	0.869	P	0.45406	0.479	T	0.15954	-1.0419	10	0.23302	T	0.38	.	15.6706	0.77270	0.0:0.0:1.0:0.0	.	300	O00144	FZD9_HUMAN	T	300	ENSP00000345785:A300T	ENSP00000345785:A300T	A	+	1	0	FZD9	72487171	1.000000	0.71417	0.208000	0.23602	0.921000	0.55340	3.465000	0.53064	2.004000	0.58718	0.411000	0.27672	GCG		0.632	FZD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252120.1			27	43	27	43	---	---	---	---
TFR2	7036	broad.mit.edu	37	7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	GGCTAGCTGACGCCGGAAACG	0.657																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(2320-2322)cGt>cAt		transferrin receptor 2							31.0	29.0	30.0					7																	100218565		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100218565C>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.2321G>A	7.37:g.100218565C>T	ENSP00000420525:p.Arg774His					TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H	p.R774H			Q9UP52	TFR2_HUMAN			19	2608	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		774					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.2321G>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634411	0.87660	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.60171	0.21;0.21;0.21	5.54	4.64	0.57946	Transferrin receptor-like, dimerisation domain (3);	0.114726	0.53938	D	0.000050	T	0.61776	0.2374	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.59852	-0.7376	10	0.48119	T	0.1	-12.2735	10.5447	0.45054	0.0:0.9109:0.0:0.0891	.	774	Q9UP52	TFR2_HUMAN	H	774;774;315	ENSP00000223051:R774H;ENSP00000420525:R774H;ENSP00000443656:R315H	ENSP00000223051:R774H	R	-	2	0	TFR2	100056501	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	0.281000	0.18810	2.890000	0.99128	0.650000	0.86243	CGT		0.657	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		10	16	10	16	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100607859	100607859	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100607859C>T	ENST00000319509.7	+	5	2006	c.2006C>T	c.(2005-2007)gCc>gTc	p.A669V	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2334	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCCAGAACGCCAGCCAGGAT	0.662																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(2005-2007)gCc>gTc		mucin 3A, cell surface associated							54.0	50.0	52.0					7																	100607859		876	1991	2867	SO:0001583	missense	4584							g.chr7:100607859C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2006C>T	7.37:g.100607859C>T	ENSP00000324834:p.Ala669Val					RP11-395B7.2_ENST00000420080.1_RNA	p.A669V							5	2006	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.2006C>T		.	.	.	.	.	.	.	.	.	.	C	8.770	0.925705	0.18056	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.31247	1.5;1.5	2.96	0.86	0.19042	SEA (2);	.	.	.	.	T	0.12860	0.0312	N	0.03948	-0.315	.	.	.	B	0.23735	0.09	B	0.31869	0.137	T	0.37957	-0.9683	8	0.19147	T	0.46	-3.3502	5.3362	0.15959	0.0:0.6482:0.0:0.3518	.	2334	Q02505	MUC3A_HUMAN	V	669;159	ENSP00000324834:A669V;ENSP00000406404:A159V	ENSP00000324834:A669V	A	+	2	0	MUC3A	100394579	0.001000	0.12720	0.210000	0.23637	0.093000	0.18481	-0.008000	0.12788	0.017000	0.15025	0.514000	0.50259	GCC		0.662	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		9	21	9	21	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCTTTCAACAACTCCTGTT	0.483																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10615-10617)aCa>aTa		mucin 17, cell surface associated		C	ILE/THR	0,4406		0,0,2203	240.0	250.0	246.0		10616	1.3	0.0	7	dbSNP_134	246	1,8599	1.2+/-3.3	0,1,4299	no	missense	MUC17	NM_001040105.1	89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3539/4494	100685313	1,13005	2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100685313C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10616C>T	7.37:g.100685313C>T	ENSP00000302716:p.Thr3539Ile						p.T3539I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10680	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3539			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10616C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	7.404	0.633342	0.14322	0.0	1.16E-4	ENSG00000169876	ENST00000306151	T	0.02015	4.5	1.28	1.28	0.21552	.	.	.	.	.	T	0.03608	0.0103	N	0.24115	0.695	0.09310	N	1	D	0.57899	0.981	P	0.60415	0.874	T	0.47761	-0.9092	9	0.49607	T	0.09	.	3.6512	0.08203	0.0:0.7368:0.0:0.2632	.	3539	Q685J3	MUC17_HUMAN	I	3539	ENSP00000302716:T3539I	ENSP00000302716:T3539I	T	+	2	0	MUC17	100472033	0.004000	0.15560	0.011000	0.14972	0.039000	0.13416	0.953000	0.29162	0.668000	0.31126	0.186000	0.17326	ACA		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		19	386	19	386	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112579785	112579785	+	Silent	SNP	G	G	A	rs573341242	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	7							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726													G|||	4	0.000798722	0.0	0.0	5008	,	,		8686	0.0		0.0	False		,,,				2504	0.0041					ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(19-21)ggC>ggT		chromosome 7 open reading frame 60							11.0	13.0	12.0					7																	112579785		1809	4036	5845	SO:0001819	synonymous_variant	154743							g.chr7:112579785G>A		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.21C>T	7.37:g.112579785G>A							p.G7G	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			1	186	-			7					Q8N3D0|Q96MV7	Silent	SNP	ENST00000297145.4	37	c.21C>T	CCDS43634.1																																																																																				0.726	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		6	9	6	9	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557																																						ENST00000321407.2																			0				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1336-1338)Gcg>Acg		GRIP and coiled-coil domain containing 1							94.0	99.0	97.0					7																	127223060		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223060C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1336G>A	7.37:g.127223060C>T	ENSP00000318821:p.Ala446Thr					GCC1_ENST00000497650.1_5'UTR	p.A446T	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN			2	1760	-			446					Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1336G>A	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745218	0.69418	.	.	ENSG00000179562	ENST00000321407	T	0.15139	2.45	5.12	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.31827	0.0809	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.14476	-1.0471	10	0.18276	T	0.48	-5.7036	6.6895	0.23163	0.176:0.7331:0.0:0.0909	.	446	Q96CN9	GCC1_HUMAN	T	446	ENSP00000318821:A446T	ENSP00000318821:A446T	A	-	1	0	GCC1	127010296	1.000000	0.71417	0.800000	0.32199	0.948000	0.59901	6.994000	0.76251	0.660000	0.30964	0.655000	0.94253	GCG		0.557	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		20	64	20	64	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149133690	149133690	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(1315-1317)Ctg>Ttg		zinc finger protein 777							51.0	55.0	54.0					7																	149133690		2040	4177	6217	SO:0001819	synonymous_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149133690G>A	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.1315C>T	7.37:g.149133690G>A							p.L439L	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		5	1638	-	Melanoma(164;0.165)		439			Glu-rich.		Q8N2R2|Q8N659	Silent	SNP	ENST00000247930.4	37	c.1315C>T	CCDS43675.1																																																																																				0.657	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		24	51	24	51	---	---	---	---
GIMAP8	155038	broad.mit.edu	37	7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473																																						ENST00000307271.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62						c.(1795-1797)tgT>tgG		GTPase, IMAP family member 8							76.0	89.0	84.0					7																	150174667		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150174667T>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1797T>G	7.37:g.150174667T>G	ENSP00000305107:p.Cys599Trp						p.C599W	NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	5	2371	+			599						Missense_Mutation	SNP	ENST00000307271.3	37	c.1797T>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	T	11.01	1.513692	0.27123	.	.	ENSG00000171115	ENST00000307271	T	0.06687	3.27	4.44	1.99	0.26369	AIG1 (1);	0.139018	0.33650	N	0.004694	T	0.13884	0.0336	M	0.89095	3.005	0.46609	D	0.999123	B	0.34399	0.452	B	0.36766	0.232	T	0.01363	-1.1374	10	0.72032	D	0.01	.	4.0846	0.09942	0.0:0.1102:0.2124:0.6775	.	599	Q8ND71	GIMA8_HUMAN	W	599	ENSP00000305107:C599W	ENSP00000305107:C599W	C	+	3	2	GIMAP8	149805600	0.996000	0.38824	0.540000	0.28089	0.014000	0.08584	0.318000	0.19504	0.241000	0.21283	0.533000	0.62120	TGT		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571		27	55	27	55	---	---	---	---
SLC7A2	6542	broad.mit.edu	37	8	17400870	17400870	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:17400870C>T	ENST00000494857.1	+	3	240	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000470360.1_Silent_p.L48L|SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(142-144)Ctg>Ttg		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						85.0	81.0	82.0					8																	17400870		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17400870C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.22C>T	8.37:g.17400870C>T						SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L	p.L48L			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	4	259	+			8					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.142C>T	CCDS34852.1																																																																																				0.522	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		14	13	14	13	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:35425622A>G	ENST00000404895.2	+	3	657	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000287272.2_Missense_Mutation_p.K110R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(328-330)aAg>aGg		unc-5 homolog D (C. elegans)							163.0	166.0	165.0					8																	35425622		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35425622A>G	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.329A>G	8.37:g.35425622A>G	ENSP00000385143:p.Lys110Arg					UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R	p.K110R			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	3	349	+			110			Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.329A>G	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572314	0.28092	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	N	0.03050	-0.425	0.80722	D	1	D;D	0.71674	0.998;0.993	D;P	0.77557	0.99;0.866	T	0.27123	-1.0083	10	0.09084	T	0.74	-23.6189	15.2986	0.73928	1.0:0.0:0.0:0.0	.	105;110	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	R	110;110;110;110;105	ENSP00000385143:K110R;ENSP00000392739:K110R;ENSP00000287272:K110R;ENSP00000412652:K110R;ENSP00000394303:K105R	ENSP00000287272:K110R	K	+	2	0	UNC5D	35545164	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	3.358000	0.52284	2.070000	0.61991	0.533000	0.62120	AAG		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			11	131	11	131	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147834	43147834	+	RNA	SNP	C	C	G	rs369755127		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582																																						ENST00000522175.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46								POTE ankyrin domain family, member A							54.0	59.0	58.0					8																	43147834		2203	4300	6503			340441							g.chr8:43147834C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147834C>G										Q6S8J7	POTEA_HUMAN			0	209	+								A6ND17|A6ND71|Q6S8J6	RNA	SNP	ENST00000522175.2	37																																																																																						0.582	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		17	40	17	40	---	---	---	---
SPIDR	23514	broad.mit.edu	37	8	48625401	48625401	+	Missense_Mutation	SNP	A	A	C	rs566690509		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:48625401A>C	ENST00000297423.4	+	15	2539	c.2155A>C	c.(2155-2157)Agc>Cgc	p.S719R	SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	719					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											TGCCCCTCACAGCCTCTTCTT	0.607													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15432	0.0		0.0	False		,,,				2504	0.0					ENST00000297423.4																			0											c.(2155-2157)Agc>Cgc		scaffolding protein involved in DNA repair							77.0	87.0	84.0					8																	48625401		2139	4233	6372	SO:0001583	missense	23514							g.chr8:48625401A>C	AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2155A>C	8.37:g.48625401A>C	ENSP00000297423:p.Ser719Arg					SPIDR_ENST00000518074.1_Missense_Mutation_p.S659R|SPIDR_ENST00000517693.1_Missense_Mutation_p.S194R|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.S649R	p.S719R	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1					15	2539	+								B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	c.2155A>C	CCDS43737.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260897	0.23051	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.52	0.0227	0.14134	.	0.921050	0.09579	N	0.783139	T	0.18551	0.0445	L	0.34521	1.04	0.09310	N	1	P;P;P;P;P;P;P	0.47302	0.589;0.646;0.893;0.589;0.589;0.589;0.589	B;B;B;B;B;B;B	0.42738	0.145;0.191;0.396;0.188;0.272;0.145;0.188	T	0.12091	-1.0561	9	0.27082	T	0.32	.	0.1568	0.00099	0.2782:0.2528:0.2197:0.2492	.	209;224;659;649;719;194;719	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	R	719;659;649;224;194;194;80;80;80	.	ENSP00000297423:S719R	S	+	1	0	KIAA0146	48787954	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.101000	0.15251	0.337000	0.23665	-0.408000	0.06270	AGC		0.607	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394		17	46	17	46	---	---	---	---
VCPIP1	80124	broad.mit.edu	37	8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L	C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	510					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAGGGAAAGCTGTAATTT	0.423																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4																			0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1528-1530)Ttt>Ctt		valosin containing protein (p97)/p47 complex interacting protein 1							166.0	175.0	172.0					8																	67577666		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577666A>G	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1528T>C	8.37:g.67577666A>G	ENSP00000309031:p.Phe510Leu						p.F510L	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1786	-		Lung NSC(129;0.142)|all_lung(136;0.227)	510					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1528T>C	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.258339	0.39896	.	.	ENSG00000175073	ENST00000310421	T	0.38722	1.12	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.54679	0.1873	L	0.43923	1.385	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.51779	-0.8662	10	0.38643	T	0.18	-12.7325	15.2518	0.73552	1.0:0.0:0.0:0.0	.	510	Q96JH7	VCIP1_HUMAN	L	510	ENSP00000309031:F510L	ENSP00000309031:F510L	F	-	1	0	VCPIP1	67740220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.991000	0.58162	0.533000	0.62120	TTT		0.423	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1			65	147	65	147	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105367308	105367308	+	Silent	SNP	C	C	T	rs201469150		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:105367308C>T	ENST00000297581.2	+	3	1282	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	411					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.S411R(1)									TCTACCCCAGCGTGGAGAGGA	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19862	0.0		0.001	False		,,,				2504	0.0					ENST00000297581.2																			1	Substitution - Missense(1)	p.S411R(1)	lung(1)								c.(1231-1233)agC>agT		dendrocyte expressed seven transmembrane protein							130.0	129.0	130.0					8																	105367308		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367308C>T	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1233C>T	8.37:g.105367308C>T						DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DPYS_ENST00000521601.1_Intron	p.S411S	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			3	1282	+			411					B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.1233C>T	CCDS6301.1																																																																																				0.438	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		27	44	27	44	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2218-2220)Cca>Tca		family with sequence similarity 135, member B							40.0	42.0	41.0					8																	139164500		2099	4240	6339	SO:0001583	missense	51059							g.chr8:139164500G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2218C>T	8.37:g.139164500G>A	ENSP00000378710:p.Pro740Ser	HNSCC(54;0.14)					p.P740S	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2388	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		740					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2218C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938244	0.73557	.	.	ENSG00000147724	ENST00000395297	T	0.17054	2.3	5.65	5.65	0.86999	.	0.134887	0.49305	D	0.000150	T	0.44850	0.1313	M	0.74258	2.255	0.52501	D	0.99995	D;D;D	0.89917	1.0;0.999;0.991	D;D;P	0.97110	1.0;0.981;0.813	T	0.21655	-1.0239	10	0.48119	T	0.1	-9.2901	18.7244	0.91708	0.0:0.0:1.0:0.0	.	740;740;740	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	740	ENSP00000378710:P740S	ENSP00000276737:P740S	P	-	1	0	FAM135B	139233682	1.000000	0.71417	0.971000	0.41717	0.608000	0.37181	7.450000	0.80656	2.678000	0.91216	0.655000	0.94253	CCA		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		11	31	11	31	---	---	---	---
PPP1R16A	84988	broad.mit.edu	37	8	145722826	145722826	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(247-249)gaC>gaT		protein phosphatase 1, regulatory subunit 16A							46.0	44.0	45.0					8																	145722826		2202	4300	6502	SO:0001819	synonymous_variant	84988					plasma membrane	protein binding	g.chr8:145722826C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.249C>T	8.37:g.145722826C>T						CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D|CTD-2517M22.14_ENST00000532766.1_RNA	p.D83D			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		2	1166	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		83					D3DWM5	Silent	SNP	ENST00000292539.4	37	c.249C>T	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	c	6.378	0.437898	0.12104	.	.	ENSG00000255182	ENST00000532766	.	.	.	4.81	2.0	0.26442	.	.	.	.	.	T	0.61060	0.2317	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62590	-0.6822	5	0.87932	D	0	.	6.4184	0.21730	0.0:0.6326:0.0:0.3674	.	.	.	.	D	149	.	ENSP00000435686:G149D	G	-	2	0	CTD-2517M22.14	145693634	0.129000	0.22400	0.998000	0.56505	0.141000	0.21300	0.131000	0.15870	1.050000	0.40346	-0.355000	0.07637	GGT		0.662	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		5	22	5	22	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5557-5559)gAa>gGa		collagen, type XXVII, alpha 1							159.0	118.0	132.0					9																	117072950		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117072950A>G	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5558A>G	9.37:g.117072950A>G	ENSP00000348385:p.Glu1853Gly						p.E1853G	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			61	5949	+			1853			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5558A>G	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.350259	0.61183	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	T	0.75704	-0.96	5.67	4.51	0.55191	Fibrillar collagen, C-terminal (4);	.	.	.	.	D	0.86711	0.5998	M	0.89414	3.03	0.58432	D	0.999999	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.934	D	0.87488	0.2425	9	0.87932	D	0	.	10.3085	0.43695	0.8523:0.0:0.0:0.1477	.	168;1853	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	G	1853;1860	ENSP00000348385:E1853G	ENSP00000348385:E1853G	E	+	2	0	COL27A1	116112771	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	0.947000	0.37659	0.459000	0.35465	GAA		0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		11	29	11	29	---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117129977	117129977	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000312033.3_Splice_Site_p.G525V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(1573-1575)gGg>gTg		AT-hook transcription factor							39.0	37.0	38.0					9																	117129977		2203	4300	6503	SO:0001630	splice_region_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117129977C>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1574-1G>T	9.37:g.117129977C>A						AKNA_ENST00000374088.3_Splice_Site_p.G525V|AKNA_ENST00000374075.5_Splice_Site_p.G444V|AKNA_ENST00000312033.3_Splice_Site_p.G525V|AKNA_ENST00000223791.3_5'UTR	p.G525V	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			6	1735	-			525					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Splice_Site	SNP	ENST00000307564.4	37	c.1574G>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224730	0.58668	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.32988	2.66;2.66;2.66;1.43	4.9	2.08	0.27032	.	0.521412	0.17848	N	0.159952	T	0.41190	0.1148	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75020	0.942;0.985	T	0.25012	-1.0144	10	0.72032	D	0.01	.	6.6128	0.22761	0.0:0.7162:0.0:0.2838	.	525;444	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	V	525;366;525;444;525	ENSP00000303769:G525V;ENSP00000363201:G525V;ENSP00000363188:G444V;ENSP00000309222:G525V	ENSP00000303769:G525V	G	-	2	0	AKNA	116169798	0.800000	0.28916	0.990000	0.47175	0.179000	0.23085	0.745000	0.26259	0.788000	0.33755	0.655000	0.94253	GGG		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767	Missense_Mutation	18	17	18	17	---	---	---	---
DBH	1621	broad.mit.edu	37	9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(145-147)tAt>tGt		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						35.0	33.0	34.0					9																	136501639		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501639A>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.146A>G	9.37:g.136501639A>G	ENSP00000376776:p.Tyr49Cys						p.Y49C	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	158	+			49					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.146A>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886708	0.33348	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.52754	0.72;0.65	5.59	3.06	0.35304	.	0.171108	0.53938	D	0.000053	T	0.60805	0.2297	M	0.71581	2.175	0.50467	D	0.999874	D	0.64830	0.994	P	0.60012	0.867	T	0.64166	-0.6471	10	0.87932	D	0	-0.0184	10.5115	0.44864	0.7417:0.0:0.0:0.2583	.	49	P09172	DOPO_HUMAN	C	49;35;35	ENSP00000376776:Y49C;ENSP00000263611:Y35C	ENSP00000263611:Y35C	Y	+	2	0	DBH	135491460	1.000000	0.71417	0.995000	0.50966	0.003000	0.03518	4.373000	0.59537	0.930000	0.37217	0.459000	0.35465	TAT		0.642	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		4	29	4	29	---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11505706	11505706	+	Silent	SNP	C	C	T	rs577831766		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:11505706C>T	ENST00000609104.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000379237.2_Silent_p.A430A|USP6NL_ENST00000277575.5_Silent_p.A424A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12444	0.0		0.0	False		,,,				2504	0.0					ENST00000609104.1																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						c.(1219-1221)gcG>gcA		USP6 N-terminal like							25.0	27.0	27.0					10																	11505706		1919	4107	6026	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11505706C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1221G>A	10.37:g.11505706C>T						USP6NL_ENST00000277575.5_Silent_p.A424A|USP6NL_ENST00000379237.2_Silent_p.A430A	p.A407A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN			15	1615	-								A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.1221G>A	CCDS53492.1																																																																																				0.692	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		7	25	7	25	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:15254959C>T	ENST00000378116.4	-	8	2634	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	876						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGTTTCTGCCAGGGGCTTT	0.512																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2626-2628)tgG>tgA		family with sequence similarity 171, member A1							133.0	133.0	133.0					10																	15254959		2203	4300	6503	SO:0001587	stop_gained	221061					integral to membrane		g.chr10:15254959C>T	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2628G>A	10.37:g.15254959C>T	ENSP00000367356:p.Trp876*						p.W876*	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2634	-			876					D3DRT9|Q32M49|Q8N4I0	Nonsense_Mutation	SNP	ENST00000378116.4	37	c.2628G>A	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	C	37	6.328742	0.97480	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.9849	18.5102	0.90913	0.0:1.0:0.0:0.0	.	.	.	.	X	876;875	.	ENSP00000367356:W876X	W	-	3	0	FAM171A1	15294965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.909000	0.69923	2.597000	0.87782	0.563000	0.77884	TGG		0.512	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		32	72	32	72	---	---	---	---
DDX50	79009	broad.mit.edu	37	10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413																																						ENST00000373585.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(1189-1191)Gag>Aag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 50							116.0	113.0	114.0					10																	70679687		2203	4300	6503	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70679687G>A	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1189G>A	10.37:g.70679687G>A	ENSP00000362687:p.Glu397Lys					DDX50_ENST00000466265.1_3'UTR	p.E397K	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN			8	1296	+			397			Helicase C-terminal.		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1189G>A	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210784	0.95069	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04758	3.56	4.4	4.4	0.53042	Helicase, C-terminal (1);	0.045665	0.85682	D	0.000000	T	0.08492	0.0211	N	0.21508	0.67	0.58432	D	0.999997	P	0.51933	0.949	P	0.52957	0.714	T	0.37291	-0.9712	10	0.46703	T	0.11	-10.8147	17.3516	0.87326	0.0:0.0:1.0:0.0	.	397	Q9BQ39	DDX50_HUMAN	K	397	ENSP00000362687:E397K	ENSP00000362687:E397K	E	+	1	0	DDX50	70349693	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.225000	0.95219	2.140000	0.66376	0.484000	0.47621	GAG		0.413	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		16	71	16	71	---	---	---	---
PIPSL	266971	broad.mit.edu	37	10	95721253	95721253	+	RNA	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:95721253G>A	ENST00000480546.1	-	0	44					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GGAGGCCGACGCCATCTTGGC	0.572																																						ENST00000480546.1																			0																																																			266971							g.chr10:95721253G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95721253G>A								NR_002319.2						0	44	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.572	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		6	90	6	90	---	---	---	---
CWF19L1	55280	broad.mit.edu	37	10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H|SNORA12_ENST00000391162.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1456-1458)cCt>cAt		CWF19-like 1, cell cycle control (S. pombe)							70.0	68.0	69.0					10																	101995439		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101995439G>T	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1457C>A	10.37:g.101995439G>T	ENSP00000326411:p.Pro486His					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	p.P486H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	13	1543	-		Colorectal(252;0.117)	486					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1457C>A	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212940	0.79352	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.34859	1.34;1.34	5.29	5.29	0.74685	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	T	0.63034	0.2477	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.997;0.999	T	0.66176	-0.5989	10	0.54805	T	0.06	-10.8848	16.4413	0.83901	0.0:0.0:1.0:0.0	.	190;349;486	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	H	486;201	ENSP00000326411:P486H;ENSP00000359405:P201H	ENSP00000326411:P486H	P	-	2	0	CWF19L1	101985429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.059000	0.93902	2.490000	0.84030	0.563000	0.77884	CCT		0.363	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		5	23	5	23	---	---	---	---
SEMA4G	57715	broad.mit.edu	37	10	102737391	102737391	+	Silent	SNP	G	G	A	rs368885285		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:102737391G>A	ENST00000370250.4	+	4	712	c.339G>A	c.(337-339)acG>acA	p.T113T	MIR608_ENST00000384820.1_RNA|SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000210633.3_Silent_p.T113T|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000519756.1_3'UTR	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(337-339)acG>acA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G		G	,	0,4406		0,0,2203	199.0	172.0	181.0		339,339	-10.6	0.1	10		181	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SEMA4G	NM_001203244.1,NM_017893.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	113/703,113/844	102737391	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102737391G>A	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.339G>A	10.37:g.102737391G>A						SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000517724.1_Silent_p.T113T	p.T113T			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	4	417	+		Colorectal(252;0.234)	113			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Silent	SNP	ENST00000370250.4	37	c.339G>A																																																																																					0.572	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			29	56	29	56	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133976844	133976844	+	Silent	SNP	C	C	A	rs143722443		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:133976844C>A	ENST00000298622.4	+	19	2484	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	782						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCGCCAGGTCATGAGTGAGC	0.687																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.(2344-2346)gtC>gtA		Janus kinase and microtubule interacting protein 3							57.0	41.0	47.0					10																	133976844		2202	4298	6500	SO:0001819	synonymous_variant	282973							g.chr10:133976844C>A	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.2346C>A	10.37:g.133976844C>A						JAKMIP3_ENST00000477275.1_3'UTR	p.V782V	NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	19	2484	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Silent	SNP	ENST00000298622.4	37	c.2346C>A	CCDS44494.1																																																																																				0.687	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		3	9	3	9	---	---	---	---
CD81-AS1	101927682	broad.mit.edu	37	11	2356903	2356903	+	RNA	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:2356903C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							GATCTTCCTGCGCACGTGTGA	0.562																																						ENST00000413483.1																			0																				205.0	176.0	186.0					11																	2356903		2202	4299	6501			101927682							g.chr11:2356903C>T																													11.37:g.2356903C>T						RPL26P30_ENST00000602923.1_RNA								0	407	-									RNA	SNP	ENST00000413483.1	37																																																																																						0.562	AC129929.5-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000143277.1			28	98	28	98	---	---	---	---
CARS	833	broad.mit.edu	37	11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3028112C>T	ENST00000397111.5	-	18	2142	c.1897G>A	c.(1897-1899)Gaa>Aaa	p.E633K	CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000397114.3_Missense_Mutation_p.E623K|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	633					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCCACCTTCGTGGTCTTCA	0.582			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	ENST00000397114.3				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31						c.(1867-1869)Gaa>Aaa		cysteinyl-tRNA synthetase	L-Cysteine(DB00151)						177.0	170.0	173.0					11																	3028112		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding	g.chr11:3028112C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1897G>A	11.37:g.3028112C>T	ENSP00000380300:p.Glu633Lys					CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K	p.E623K			P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	19	2243	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	633					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1867G>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970368	0.74246	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.174005	0.50627	D	0.000114	T	0.37517	0.1006	M	0.75447	2.3	0.80722	D	1	B;B;P;P;B;P	0.49696	0.075;0.226;0.776;0.927;0.122;0.602	B;B;B;B;B;B	0.40864	0.018;0.042;0.14;0.342;0.047;0.062	T	0.36553	-0.9743	10	0.13853	T	0.58	.	15.3614	0.74478	0.0:1.0:0.0:0.0	.	646;716;633;633;716;623	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	K	716;633;633;623;646	ENSP00000369897:E716K;ENSP00000380300:E633K;ENSP00000278224:E633K;ENSP00000380303:E623K;ENSP00000384069:E646K	ENSP00000278224:E633K	E	-	1	0	CARS	2984688	1.000000	0.71417	0.979000	0.43373	0.904000	0.53231	6.621000	0.74228	2.280000	0.76307	0.462000	0.41574	GAA		0.582	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		7	136	7	136	---	---	---	---
DNHD1	144132	broad.mit.edu	37	11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:6592024T>A	ENST00000527990.2	+	40	13282	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4428T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(13282-13284)Tct>Act		dynein heavy chain domain 1							25.0	30.0	28.0					11																	6592024		2088	4205	6293	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6592024T>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.13282T>A	11.37:g.6592024T>A	ENSP00000436180:p.Ser4428Thr					DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	42	13846	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4428					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.13282T>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.699492	0.30142	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.27720	1.65;1.65	4.78	-4.76	0.03229	Dynein heavy chain (1);	1.097160	0.07008	N	0.824551	T	0.08537	0.0212	N	0.02011	-0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.21861	-1.0233	10	0.22109	T	0.4	1.4957	1.5231	0.02520	0.2406:0.365:0.2306:0.1638	.	3516;480;4428	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	T	4428;4428;696	ENSP00000254579:S4428T;ENSP00000436180:S4428T	ENSP00000254579:S4428T	S	+	1	0	DNHD1	6548600	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.084000	0.14891	-0.924000	0.03780	-1.845000	0.00574	TCT		0.637	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	18	12	18	---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(1771-1773)Act>Gct		coatomer protein complex, subunit beta 1							83.0	79.0	80.0					11																	14491076		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14491076T>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.1771A>G	11.37:g.14491076T>C	ENSP00000249923:p.Thr591Ala					COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			15	2071	-			591					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.1771A>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.684676	0.68157	.	.	ENSG00000129083	ENST00000249923;ENST00000439561	T;T	0.12774	2.65;2.65	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	N	0.04508	-0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23833	-1.0177	10	0.51188	T	0.08	-0.0726	16.3453	0.83126	0.0:0.0:0.0:1.0	.	591	P53618	COPB_HUMAN	A	591	ENSP00000249923:T591A;ENSP00000397873:T591A	ENSP00000249923:T591A	T	-	1	0	COPB1	14447652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.749000	0.85096	2.261000	0.74972	0.533000	0.62120	ACT		0.398	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		5	52	5	52	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17428224C>T	ENST00000389817.3	-	26	3342	c.3274G>A	c.(3274-3276)Gtg>Atg	p.V1092M	ABCC8_ENST00000302539.4_Missense_Mutation_p.V1093M			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CTCTTGGCCACCTTCAGCCCT	0.607																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3277-3279)Gtg>Atg		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						135.0	107.0	116.0					11																	17428224		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428224C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3274G>A	11.37:g.17428224C>T	ENSP00000374467:p.Val1092Met					ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	p.V1093M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3402	-			1092			ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3277G>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649919	0.87958	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90385	-2.66;-2.66	5.84	5.84	0.93424	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.79693	2.465	0.58432	D	0.999991	B	0.33171	0.4	P	0.45660	0.489	D	0.93511	0.6853	10	0.87932	D	0	.	17.0674	0.86563	0.0:0.8734:0.1266:0.0	.	1092	Q09428	ABCC8_HUMAN	M	1092;1093	ENSP00000374467:V1092M;ENSP00000303960:V1093M	ENSP00000303960:V1093M	V	-	1	0	ABCC8	17384800	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.910000	0.63321	2.756000	0.94617	0.655000	0.94253	GTG		0.607	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		13	38	13	38	---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CACGCAAGTGCGCTACTACCG	0.582																																						ENST00000379472.3																			1	Substitution - Missense(1)	p.R234C(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(700-702)Cgc>Tgc		potassium voltage-gated channel, Shaw-related subfamily, member 1							263.0	211.0	229.0					11																	17793341		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793341C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.700C>T	11.37:g.17793341C>T	ENSP00000368785:p.Arg234Cys					KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	730	+			234					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.700C>T	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307031	0.40795	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97232	-4.3;-4.3	4.7	4.7	0.59300	.	3.542160	0.01208	N	0.007765	D	0.97504	0.9183	L	0.50333	1.59	0.58432	D	0.999998	D;D	0.76494	0.981;0.999	P;P	0.56216	0.586;0.794	D	0.90736	0.4646	10	0.38643	T	0.18	.	12.7317	0.57201	0.1644:0.8356:0.0:0.0	.	234;234	Q3KNS8;P48547	.;KCNC1_HUMAN	C	234	ENSP00000265969:R234C;ENSP00000368785:R234C	ENSP00000265969:R234C	R	+	1	0	KCNC1	17749917	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.141000	0.50593	2.166000	0.68216	0.505000	0.49811	CGC		0.582	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		23	83	23	83	---	---	---	---
DAGLA	747	broad.mit.edu	37	11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(655-657)Gcc>Acc		diacylglycerol lipase, alpha							191.0	174.0	179.0					11																	61495643		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61495643G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.655G>A	11.37:g.61495643G>A	ENSP00000257215:p.Ala219Thr						p.A219T	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	7	771	+			219					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.655G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133867	0.94517	.	.	ENSG00000134780	ENST00000257215	T	0.55930	0.49	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78583	-0.2148	10	0.66056	D	0.02	-33.4404	18.4262	0.90610	0.0:0.0:1.0:0.0	.	219	Q9Y4D2	DGLA_HUMAN	T	219	ENSP00000257215:A219T	ENSP00000257215:A219T	A	+	1	0	DAGLA	61252219	1.000000	0.71417	0.999000	0.59377	0.829000	0.46940	9.359000	0.97115	2.430000	0.82344	0.555000	0.69702	GCC		0.617	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		5	77	5	77	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(3064-3066)aAg>aGg		latent transforming growth factor beta binding protein 3							70.0	55.0	60.0					11																	65307998		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65307998T>C	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.3065A>G	11.37:g.65307998T>C	ENSP00000301873:p.Lys1022Arg		OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1083	LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R|LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R	p.K1022R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			22	3333	-			1022			EGF-like 10; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.3065A>G	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484056	0.84854	.	.	ENSG00000168056	ENST00000301874;ENST00000322147;ENST00000301873;ENST00000530785;ENST00000529189;ENST00000532932;ENST00000536982;ENST00000532661;ENST00000530866	T;D;D;T;D;T;T;D	0.92048	1.72;-2.96;-2.26;1.59;-2.96;1.72;1.72;-2.96	4.13	4.13	0.48395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.244385	0.40302	N	0.001128	D	0.88496	0.6452	N	0.03608	-0.345	0.38733	D	0.953702	P;P;D;P;D;B;D	0.69078	0.717;0.801;0.973;0.698;0.991;0.143;0.997	P;B;P;B;P;B;D	0.80764	0.559;0.376;0.884;0.371;0.846;0.174;0.994	D	0.87326	0.2321	10	0.25106	T	0.35	.	11.102	0.48179	0.0:0.0:0.0:1.0	.	933;648;905;1022;1022;452;648	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2;B4DQL8	.;.;.;LTBP3_HUMAN;.;.;.	R	25;1022;1022;25;25;452;648;25;933	ENSP00000326647:K1022R;ENSP00000301873:K1022R;ENSP00000434315:K25R;ENSP00000434406:K25R;ENSP00000435530:K452R;ENSP00000441912:K648R;ENSP00000436341:K25R;ENSP00000435276:K933R	ENSP00000301873:K1022R	K	-	2	0	LTBP3	65064574	0.653000	0.27358	1.000000	0.80357	0.996000	0.88848	1.684000	0.37649	1.506000	0.48736	0.374000	0.22700	AAG		0.652	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		10	39	10	39	---	---	---	---
MTL5	9633	broad.mit.edu	37	11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A	rs370056313		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:68506190G>A	ENST00000255087.5	-	6	1078	c.895C>T	c.(895-897)Cca>Tca	p.P299S	MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	299	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTTTGGTGGTCCTGGAAGA	0.413																																						ENST00000255087.5																			0				breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(895-897)Cca>Tca		metallothionein-like 5, testis-specific (tesmin)							107.0	100.0	102.0					11																	68506190		2200	4294	6494	SO:0001583	missense	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68506190G>A	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.895C>T	11.37:g.68506190G>A	ENSP00000255087:p.Pro299Ser					MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S|MTL5_ENST00000540869.1_5'UTR	p.P299S	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		6	1078	-	Esophageal squamous(3;4.37e-12)		299					A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Missense_Mutation	SNP	ENST00000255087.5	37	c.895C>T	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872215	0.51695	.	.	ENSG00000132749	ENST00000255087;ENST00000544963	T;T	0.52057	1.55;0.68	5.16	5.16	0.70880	.	0.000000	0.47852	D	0.000202	T	0.30634	0.0771	L	0.34521	1.04	0.34649	D	0.721411	P	0.39480	0.675	B	0.32393	0.145	T	0.43310	-0.9399	10	0.24483	T	0.36	-11.7634	9.7839	0.40664	0.0944:0.0:0.9056:0.0	.	299	Q9Y4I5	MTL5_HUMAN	S	299	ENSP00000255087:P299S;ENSP00000440968:P299S	ENSP00000255087:P299S	P	-	1	0	MTL5	68262766	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.093000	0.41710	2.433000	0.82419	0.561000	0.74099	CCA		0.413	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		4	37	4	37	---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70331617G>A	ENST00000423696.2	-	15	3680	c.3644C>T	c.(3643-3645)gCc>gTc	p.A1215V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1595V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4783-4785)gCc>gTc		SH3 and multiple ankyrin repeat domains 2							59.0	65.0	63.0					11																	70331617		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331617G>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3644C>T	11.37:g.70331617G>A	ENSP00000394536:p.Ala1215Val					SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V	p.A1595V			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4783	-			1215					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4784C>T		.	.	.	.	.	.	.	.	.	.	G	11.39	1.626095	0.28978	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.40225	2.32;2.32;3.04;1.04;2.45;2.45	5.42	2.57	0.30868	.	0.606682	0.19382	N	0.115634	T	0.32763	0.0840	L	0.44542	1.39	0.22401	N	0.999136	B;B;B	0.16802	0.011;0.014;0.019	B;B;B	0.18871	0.007;0.023;0.016	T	0.19943	-1.0290	10	0.23302	T	0.38	.	10.7066	0.45958	0.2056:0.0:0.7944:0.0	.	1215;1594;999	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	999;998;873;1595;1215;1233;1218	ENSP00000399423:A999V;ENSP00000386491:A998V;ENSP00000402944:A873V;ENSP00000345193:A1595V;ENSP00000394536:A1215V;ENSP00000294018:A1218V	ENSP00000294018:A1218V	A	-	2	0	SHANK2	70009265	0.759000	0.28416	0.000000	0.03702	0.997000	0.91878	4.152000	0.58111	0.286000	0.22352	0.655000	0.94253	GCC		0.577	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		4	55	4	55	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108068119	108068119	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735). {ECO:0000305}.	positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308																																						ENST00000278612.8																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(64-66)tcT>tcC		nuclear protein, ataxia-telangiectasia locus							93.0	93.0	93.0					11																	108068119		1797	4056	5853	SO:0001819	synonymous_variant	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108068119A>G	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.66T>C	11.37:g.108068119A>G						NPAT_ENST00000610253.1_5'UTR	p.S22S	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	2	171	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	22	S -> Y (in Ref. 6; AAB02735).		Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Silent	SNP	ENST00000278612.8	37	c.66T>C	CCDS41710.1																																																																																				0.308	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		12	65	12	65	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118343381	118343381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:118343381C>T	ENST00000389506.5	+	3	1507	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	KMT2A_ENST00000534358.1_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	503					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TCCTGAGGAGCGGAGCGATAC	0.502																																						ENST00000534358.1																			0											c.(1507-1509)Cgg>Tgg		lysine (K)-specific methyltransferase 2A							114.0	120.0	118.0					11																	118343381		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118343381C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1507C>T	11.37:g.118343381C>T	ENSP00000374157:p.Arg503Trp					KMT2A_ENST00000389506.5_Missense_Mutation_p.R503W|KMT2A_ENST00000354520.4_Missense_Mutation_p.R503W	p.R503W	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1530	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.1507C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	8.337	0.827840	0.16749	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520	D;T;D;D	0.82433	-1.61;3.35;-1.61;-1.58	5.13	4.21	0.49690	.	0.142736	0.49305	D	0.000158	T	0.68641	0.3023	N	0.19112	0.55	0.36192	D	0.850118	D;D;D	0.59357	0.985;0.985;0.979	B;B;B	0.37508	0.232;0.232;0.252	T	0.77264	-0.2652	10	0.72032	D	0.01	.	11.6189	0.51106	0.1399:0.7255:0.1347:0.0	.	503;503;536	E9PQG7;Q03164;E9PR05	.;MLL1_HUMAN;.	W	503;536;503;503	ENSP00000436786:R503W;ENSP00000432391:R536W;ENSP00000374157:R503W;ENSP00000346516:R503W	ENSP00000346516:R503W	R	+	1	2	MLL	117848591	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	2.395000	0.44459	1.272000	0.44329	0.491000	0.48974	CGG		0.502	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		22	103	22	103	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(3016-3018)gAc>gTc		von Willebrand factor	Antihemophilic Factor(DB00025)						114.0	105.0	108.0					12																	6135163		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6135163T>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3017A>T	12.37:g.6135163T>A	ENSP00000261405:p.Asp1006Val						p.D1006V	NM_000552.3	NP_000543	P04275	VWF_HUMAN			23	3271	-			1006			VWFD 3.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3017A>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.215643	0.79352	.	.	ENSG00000110799	ENST00000261405	T	0.75050	-0.9	4.84	4.84	0.62591	von Willebrand factor, type D domain (3);	0.000000	0.44902	D	0.000407	D	0.91157	0.7215	H	0.98295	4.195	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.94180	0.7431	10	0.87932	D	0	.	13.756	0.62937	0.0:0.0:0.0:1.0	.	1006	P04275	VWF_HUMAN	V	1006	ENSP00000261405:D1006V	ENSP00000261405:D1006V	D	-	2	0	VWF	6005424	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.507000	0.81676	2.027000	0.59764	0.459000	0.35465	GAC		0.527	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		15	47	15	47	---	---	---	---
ADCY6	112	broad.mit.edu	37	12	49169815	49169815	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Silent_p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647																																						ENST00000307885.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1735-1737)ggG>ggA		adenylate cyclase 6							50.0	45.0	47.0					12																	49169815		2203	4299	6502	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49169815C>T		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.1737G>A	12.37:g.49169815C>T						ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	p.G579G	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN			8	2431	-			579					Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.1737G>A	CCDS8767.1																																																																																				0.647	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		8	13	8	13	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2416-2418)cGg>cAg		extended synaptotagmin-like protein 1							29.0	30.0	30.0					12																	56532267		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56532267G>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2417G>A	12.37:g.56532267G>A	ENSP00000377612:p.Arg806Gln					ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q|ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q	p.R806Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			22	2681	+			806			C2 4.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2417G>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053778	0.55218	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.69306	-0.39;-0.39;-0.39	5.38	4.47	0.54385	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.38953	1.18	0.46437	D	0.999044	B;D	0.76494	0.097;0.999	B;D	0.64144	0.012;0.922	T	0.62455	-0.6851	10	0.28530	T	0.3	-22.377	7.5469	0.27772	0.1781:0.0:0.8219:0.0	.	816;806	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	Q	806;760;816;816	ENSP00000377612:R806Q;ENSP00000267113:R816Q;ENSP00000445952:R816Q	ENSP00000267113:R816Q	R	+	2	0	ESYT1	54818534	0.999000	0.42202	0.998000	0.56505	0.749000	0.42624	3.395000	0.52558	2.682000	0.91365	0.561000	0.74099	CGG		0.587	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		4	21	4	21	---	---	---	---
CNPY2	10330	broad.mit.edu	37	12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493																																						ENST00000273308.4																			0				large_intestine(2)|lung(2)	4						c.(394-396)aCc>aAc		canopy FGF signaling regulator 2							217.0	207.0	211.0					12																	56705008		2203	4300	6503	SO:0001583	missense	10330					endoplasmic reticulum|integral to plasma membrane	protein binding	g.chr12:56705008G>T	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.395C>A	12.37:g.56705008G>T	ENSP00000273308:p.Thr132Asn					RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA	p.T132N	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN			4	935	-			132			Saposin B-type.		B2R7B9|Q9UHE9	Missense_Mutation	SNP	ENST00000273308.4	37	c.395C>A	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359380	0.41801	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.29	4.34	0.51931	Saposin B (1);	0.099888	0.64402	D	0.000003	T	0.14313	0.0346	N	0.03608	-0.345	0.43099	D	0.994789	B	0.06786	0.001	B	0.04013	0.001	T	0.14254	-1.0479	10	0.20519	T	0.43	-14.9753	7.2035	0.25895	0.0965:0.2619:0.6416:0.0	.	132	Q9Y2B0	CNPY2_HUMAN	N	132;132;132;80	ENSP00000446743:T132N;ENSP00000273308:T132N;ENSP00000448809:T132N;ENSP00000446784:T80N	ENSP00000273308:T132N	T	-	2	0	RP11-977G19.10;CNPY2	54991275	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.001000	0.49488	2.648000	0.89879	0.561000	0.74099	ACC		0.493	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255		51	90	51	90	---	---	---	---
SLC16A7	9194	broad.mit.edu	37	12	60098741	60098741	+	Silent	SNP	T	T	C	rs376184979		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(157-159)acT>acC		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						110.0	104.0	106.0					12																	60098741		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60098741T>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.159T>C	12.37:g.60098741T>C						SLC16A7_ENST00000543448.1_5'UTR|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000547379.1_Silent_p.T53T	p.T53T	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	2	323	+			53					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.159T>C	CCDS8961.1																																																																																				0.383	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		24	46	24	46	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	ENST00000229330.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(688-690)atG>atC		host cell factor C2							80.0	80.0	80.0					12																	104474531		2202	4300	6502	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104474531G>C	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.690G>C	12.37:g.104474531G>C	ENSP00000229330:p.Met230Ile						p.M230I	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN			5	794	+			230					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.690G>C	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434936	0.83885	.	.	ENSG00000111727	ENST00000229330	T	0.42513	0.97	5.75	4.85	0.62838	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.91972	3.26	0.52099	D	0.999947	B	0.29232	0.238	B	0.29267	0.1	T	0.54344	-0.8308	10	0.22706	T	0.39	-19.2496	15.175	0.72903	0.0685:0.0:0.9315:0.0	.	230	Q9Y5Z7	HCFC2_HUMAN	I	230	ENSP00000229330:M230I	ENSP00000229330:M230I	M	+	3	0	HCFC2	102998661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.348000	0.79366	2.725000	0.93324	0.655000	0.94253	ATG		0.323	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		15	17	15	17	---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:113810526G>A	ENST00000280800.3	+	3	488	c.457G>A	c.(457-459)Gag>Aag	p.E153K	PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	153					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGCTACTGCGAGAGGCTGAA	0.572																																						ENST00000280800.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(457-459)Gag>Aag		phospholipase B domain containing 2							133.0	133.0	133.0					12																	113810526		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113810526G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.457G>A	12.37:g.113810526G>A	ENSP00000280800:p.Glu153Lys					PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN			3	488	+			153					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.457G>A	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151503	0.21371	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.15718	2.4;2.4	5.01	5.01	0.66863	.	0.109676	0.64402	D	0.000010	T	0.16938	0.0407	L	0.43923	1.385	0.36074	D	0.842318	B;B	0.23806	0.091;0.085	B;B	0.22386	0.02;0.039	T	0.09143	-1.0688	10	0.39692	T	0.17	-40.2479	14.3594	0.66761	0.0:0.1938:0.8062:0.0	.	153;153	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	K	153	ENSP00000443463:E153K;ENSP00000280800:E153K	ENSP00000280800:E153K	E	+	1	0	PLBD2	112294909	0.999000	0.42202	0.997000	0.53966	0.161000	0.22273	2.873000	0.48475	2.332000	0.79248	0.462000	0.41574	GAG		0.572	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		32	72	32	72	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120791157	120791157	+	Silent	SNP	G	G	T	rs543420695		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:120791157G>T	ENST00000257552.2	-	10	766	c.678C>A	c.(676-678)acC>acA	p.T226T	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	226					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGGCGTAGGTTGTGGCTT	0.597																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(676-678)acC>acA		musashi RNA-binding protein 1							114.0	110.0	111.0					12																	120791157		2203	4300	6503	SO:0001819	synonymous_variant	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120791157G>T	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.678C>A	12.37:g.120791157G>T						MSI1_ENST00000546622.1_5'UTR	p.T226T	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			10	766	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		226					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Silent	SNP	ENST00000257552.2	37	c.678C>A	CCDS9196.1	.	.	.	.	.	.	.	.	.	.	G	9.828	1.187539	0.21870	.	.	ENSG00000135097	ENST00000546985	.	.	.	4.91	3.0	0.34707	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51332	-0.8719	4	.	.	.	.	7.6358	0.28266	0.0765:0.0:0.638:0.2855	.	.	.	.	H	158	.	.	P	-	2	0	MSI1	119275540	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.274000	0.33132	1.009000	0.39289	0.455000	0.32223	CCT		0.597	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		17	51	17	51	---	---	---	---
EIF2B1	1967	broad.mit.edu	37	12	124106408	124106408	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					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)			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)		AGTCGACCCACGGATGCTCCT	0.512																																						ENST00000424014.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10						c.(811-813)ccG>ccA		eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa							163.0	101.0	122.0					12																	124106408		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:124106408C>T	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.813G>A	12.37:g.124106408C>T						EIF2B1_ENST00000539951.1_3'UTR	p.P271P	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)	9	1021	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		271					A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	c.813G>A	CCDS31924.1																																																																																				0.512	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		4	22	4	22	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132212946	132212946	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132212946C>T	ENST00000261674.4	+	7	1195	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	352					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GCCTGTGCAGCCCTCCCAGGT	0.587																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(1054-1056)Ccc>Tcc		splicing factor, suppressor of white-apricot homolog (Drosophila)							132.0	102.0	112.0					12																	132212946		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132212946C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1054C>T	12.37:g.132212946C>T	ENSP00000261674:p.Pro352Ser					SFSWAP_ENST00000541286.1_Missense_Mutation_p.P352S	p.P352S	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			7	1195	+			352					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.1054C>T	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221394	0.39300	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.23147	2.92;1.92;2.95	5.61	2.29	0.28610	.	0.316148	0.37437	N	0.002097	T	0.14313	0.0346	L	0.36672	1.1	0.39575	D	0.969345	B;B;B	0.23058	0.079;0.047;0.002	B;B;B	0.17722	0.019;0.009;0.003	T	0.08722	-1.0708	10	0.16896	T	0.51	-21.5046	3.5968	0.08009	0.4568:0.3423:0.1164:0.0846	.	352;352;289	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	S	352;289;145;352	ENSP00000261674:P352S;ENSP00000443045:P145S;ENSP00000437738:P352S	ENSP00000261674:P352S	P	+	1	0	SFSWAP	130778899	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.849000	0.27723	1.339000	0.45563	0.655000	0.94253	CCC		0.587	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		23	25	23	25	---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1825-1827)gCc>gTc		M-phase phosphoprotein 8							128.0	135.0	133.0					13																	20235872		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20235872C>T	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1826C>T	13.37:g.20235872C>T	ENSP00000355388:p.Ala609Val					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	8	1894	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	609					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1826C>T	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492489	0.84962	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.70516	-0.49;-0.49	6.08	6.08	0.98989	Ankyrin repeat-containing domain (4);	0.105071	0.64402	D	0.000003	D	0.82774	0.5110	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82418	-0.0467	10	0.72032	D	0.01	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	609;609	Q99549;Q99549-2	MPP8_HUMAN;.	V	609	ENSP00000414663:A609V;ENSP00000355388:A609V	ENSP00000355388:A609V	A	+	2	0	MPHOSPH8	19133872	1.000000	0.71417	0.779000	0.31741	0.166000	0.22503	7.221000	0.78016	2.894000	0.99253	0.591000	0.81541	GCC		0.502	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		18	120	18	120	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25672097	25672097	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1759-1761)gaA>gaG		poly(A) binding protein, cytoplasmic 3							126.0	124.0	125.0					13																	25672097		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25672097A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1761A>G	13.37:g.25672097A>G							p.E587E	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1798	+		Lung SC(185;0.0225)|Breast(139;0.0602)	587			PABC.		Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.1761A>G	CCDS9311.1																																																																																				0.448	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		6	109	6	109	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39261856	39261856	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:39261856G>A	ENST00000280481.7	+	1	591	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	125					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAGTCCCAAGCGCTTCCCGT	0.697																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(373-375)aaG>aaA		FRAS1 related extracellular matrix protein 2							21.0	21.0	21.0					13																	39261856		2203	4296	6499	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39261856G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.375G>A	13.37:g.39261856G>A							p.K125K	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	591	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	125					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.375G>A	CCDS31960.1																																																																																				0.697	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		3	2	3	2	---	---	---	---
PCID2	55795	broad.mit.edu	37	13	113849441	113849441	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113849441T>C	ENST00000337344.4	-	6	385		c.e6-2		PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375457.2_Splice_Site	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453																																						ENST00000375457.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.e6-2		PCI domain containing 2							90.0	89.0	89.0					13																	113849441		2203	4300	6503	SO:0001630	splice_region_variant	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113849441T>C	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.309-2A>G	13.37:g.113849441T>C						PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000337344.4_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000246505.5_Splice_Site		NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		6	899	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)						A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Splice_Site	SNP	ENST00000337344.4	37		CCDS9532.2	.	.	.	.	.	.	.	.	.	.	T	19.11	3.763504	0.69763	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000246506	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3413	0.66627	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCID2	112897442	1.000000	0.71417	0.990000	0.47175	0.811000	0.45836	5.626000	0.67777	1.932000	0.55993	0.460000	0.39030	.		0.453	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386	Intron	14	26	14	26	---	---	---	---
OR4E2	26686	broad.mit.edu	37	14	22133362	22133362	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:22133362G>A	ENST00000408935.1	+	1	66	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATAACCGGGTGCTGGAAATGC	0.418																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(64-66)gtG>gtA		olfactory receptor, family 4, subfamily E, member 2							162.0	150.0	154.0					14																	22133362		1916	4135	6051	SO:0001819	synonymous_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133362G>A		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.66G>A	14.37:g.22133362G>A							p.V22V	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	66	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	22					Q6IET6|Q96R62	Silent	SNP	ENST00000408935.1	37	c.66G>A	CCDS41916.1																																																																																				0.418	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			37	69	37	69	---	---	---	---
REC8	9985	broad.mit.edu	37	14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602																																					NSCLC(139;1764 2537 12868 49041)	ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(181-183)cCg>cTg		REC8 meiotic recombination protein							55.0	65.0	61.0					14																	24642164		1972	4129	6101	SO:0001583	missense	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24642164C>T	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.182C>T	14.37:g.24642164C>T	ENSP00000308699:p.Pro61Leu					REC8_ENST00000559919.1_Missense_Mutation_p.P61L	p.P61L			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	4	781	+			61					A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	37	c.182C>T	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704779	0.88924	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.35973	1.28	5.39	3.56	0.40772	Rad21/Rec8-like protein, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	M	0.88775	2.98	0.58432	D	0.999996	D;D	0.89917	0.996;1.0	D;D	0.85130	0.987;0.997	T	0.63193	-0.6692	10	0.87932	D	0	-22.4585	7.8783	0.29608	0.1596:0.7572:0.0:0.0832	.	61;61	O95072-2;O95072	.;REC8_HUMAN	L	61	ENSP00000308699:P61L	ENSP00000308699:P61L	P	+	2	0	REC8	23712004	1.000000	0.71417	0.926000	0.36857	0.970000	0.65996	5.897000	0.69831	0.628000	0.30357	0.561000	0.74099	CCG		0.602	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132		28	48	28	48	---	---	---	---
FOXG1	2290	broad.mit.edu	37	14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:29237390G>A	ENST00000313071.4	+	1	1104	c.905G>A	c.(904-906)cGc>cAc	p.R302H	FOXG1_ENST00000382535.3_Missense_Mutation_p.R302H|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000546560.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(904-906)cGc>cAc		forkhead box G1							45.0	55.0	52.0					14																	29237390		2203	4299	6502	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237390G>A		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.905G>A	14.37:g.29237390G>A	ENSP00000339004:p.Arg302His					FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H	p.R302H			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1274	+			302	RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.905G>A	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123284	0.77436	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.93604	-3.25;-3.25	4.19	4.19	0.49359	.	0.068043	0.56097	U	0.000027	D	0.91925	0.7443	L	0.27053	0.805	0.58432	D	0.999998	D	0.71674	0.998	P	0.53450	0.726	D	0.92575	0.6069	10	0.49607	T	0.09	.	16.0962	0.81127	0.0:0.0:1.0:0.0	.	302	P55316	FOXG1_HUMAN	H	302	ENSP00000371975:R302H;ENSP00000339004:R302H	ENSP00000339004:R302H	R	+	2	0	FOXG1	28307141	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.851000	0.86920	1.868000	0.54150	0.313000	0.20887	CGC		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			23	55	23	55	---	---	---	---
BAZ1A	11177	broad.mit.edu	37	14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:35255348C>T	ENST00000382422.2	-	12	1917	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000358716.4_Intron|BAZ1A_ENST00000360310.1_Nonsense_Mutation_p.W530*			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358																																						ENST00000360310.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1588-1590)tgG>tgA		bromodomain adjacent to zinc finger domain, 1A							43.0	41.0	42.0					14																	35255348		2203	4300	6503	SO:0001587	stop_gained	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35255348C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.1590G>A	14.37:g.35255348C>T	ENSP00000371859:p.Trp530*					BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	p.W530*	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	13	2157	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		530					Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Nonsense_Mutation	SNP	ENST00000382422.2	37	c.1590G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	44	11.044200	0.99507	.	.	ENSG00000198604	ENST00000382422;ENST00000360310	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.7299	0.91731	0.0:1.0:0.0:0.0	.	.	.	.	X	530	.	ENSP00000353458:W530X	W	-	3	0	BAZ1A	34325099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.349000	0.79376	2.405000	0.81733	0.555000	0.69702	TGG		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1			5	27	5	27	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(739-741)Cac>Tac		forkhead box A1							33.0	31.0	32.0					14																	38061250		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061250G>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.739C>T	14.37:g.38061250G>A	ENSP00000250448:p.His247Tyr					FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y|FOXA1_ENST00000545425.2_5'UTR	p.H247Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	800	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		247					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.739C>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459017	0.84317	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95588	-3.75;-3.75	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97848	0.9293	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98816	1.0745	10	0.87932	D	0	.	15.0053	0.71507	0.0:0.0:1.0:0.0	.	247	P55317	FOXA1_HUMAN	Y	247;214	ENSP00000250448:H247Y;ENSP00000440178:H214Y	ENSP00000250448:H247Y	H	-	1	0	FOXA1	37131001	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.683000	0.84093	2.057000	0.61298	0.400000	0.26472	CAC		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	19	12	19	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47504410	47504410	+	Silent	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:47504410T>C	ENST00000399232.2	-	8	1780	c.1416A>G	c.(1414-1416)aaA>aaG	p.K472K	MDGA2_ENST00000426342.1_Silent_p.K243K|MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000357362.3_Silent_p.K243K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGATGATTGGTTTAGGTTTGC	0.418																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(727-729)aaA>aaG		MAM domain containing glycosylphosphatidylinositol anchor 2							240.0	212.0	221.0					14																	47504410		1940	4156	6096	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504410T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1416A>G	14.37:g.47504410T>C						MDGA2_ENST00000439988.3_Silent_p.K541K|MDGA2_ENST00000399232.2_Silent_p.K472K|MDGA2_ENST00000357362.3_Silent_p.K243K	p.K243K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			8	1475	-			472			Ig-like 3.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.729A>G		.	.	.	.	.	.	.	.	.	.	T	6.835	0.523181	0.13066	.	.	ENSG00000139915	ENST00000554762	.	.	.	5.52	1.88	0.25563	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47824	-0.9087	4	.	.	.	.	8.4139	0.32659	0.0:0.4046:0.0:0.5954	.	.	.	.	A	247	.	.	T	-	1	0	MDGA2	46574160	0.946000	0.32159	0.999000	0.59377	0.988000	0.76386	0.082000	0.14847	0.083000	0.17047	0.402000	0.26972	ACC		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		6	121	6	121	---	---	---	---
KLHDC1	122773	broad.mit.edu	37	14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C	RP11-831F12.2_ENST00000557160.1_RNA	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(274-276)tAc>tGc		kelch domain containing 1							98.0	92.0	94.0					14																	50176534		2203	4300	6503	SO:0001583	missense	122773					cytoplasm		g.chr14:50176534A>G	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.275A>G	14.37:g.50176534A>G	ENSP00000352282:p.Tyr92Cys						p.Y92C	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN			3	365	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		92					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.275A>G	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	A	18.24	3.581104	0.65992	.	.	ENSG00000197776	ENST00000359332	D	0.92858	-3.12	5.16	5.16	0.70880	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.246864	0.42682	D	0.000679	D	0.94964	0.8371	M	0.64567	1.98	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	D	0.94445	0.7662	10	0.40728	T	0.16	-10.4457	15.2901	0.73859	1.0:0.0:0.0:0.0	.	92	Q8N7A1	KLDC1_HUMAN	C	92	ENSP00000352282:Y92C	ENSP00000352282:Y92C	Y	+	2	0	KLHDC1	49246284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.080000	0.62538	0.379000	0.24179	TAC		0.358	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		12	32	12	32	---	---	---	---
ALKBH1	8846	broad.mit.edu	37	14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.(844-846)Agc>Ggc		alkB, alkylation repair homolog 1 (E. coli)							53.0	48.0	50.0					14																	78140481		2203	4300	6503	SO:0001583	missense	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78140481T>C	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.844A>G	14.37:g.78140481T>C	ENSP00000216489:p.Ser282Gly						p.S282G	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	6	859	-			282			Fe2OG dioxygenase.		Q8TAU1|Q9ULA7	Missense_Mutation	SNP	ENST00000216489.3	37	c.844A>G	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	T	32	5.124009	0.94429	.	.	ENSG00000100601	ENST00000216489	T	0.13307	2.6	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20042	-1.0287	10	0.72032	D	0.01	-15.8025	16.4237	0.83790	0.0:0.0:0.0:1.0	.	282	Q13686	ALKB1_HUMAN	G	282	ENSP00000216489:S282G	ENSP00000216489:S282G	S	-	1	0	ALKBH1	77210234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.279000	0.76181	0.533000	0.62120	AGC		0.577	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020		11	22	11	22	---	---	---	---
C15orf56	644809	broad.mit.edu	37	15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000559727.1_3'UTR	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662																																						ENST00000319503.3																			0				lung(1)	1						c.(271-273)Gcg>Acg		chromosome 15 open reading frame 56							23.0	27.0	26.0					15																	40544701		2203	4300	6503	SO:0001583	missense	644809							g.chr15:40544701C>T		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.271G>A	15.37:g.40544701C>T	ENSP00000315794:p.Ala91Thr					C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000260404.4_Intron	p.A91T	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)	2	292	-		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	91						Missense_Mutation	SNP	ENST00000319503.3	37	c.271G>A	CCDS32197.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.861720	0.51482	.	.	ENSG00000176753	ENST00000319503	T	0.29655	1.56	4.25	3.32	0.38043	.	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.20563	N	0.999884	B	0.33904	0.431	B	0.23852	0.049	T	0.12142	-1.0559	9	0.87932	D	0	.	10.2241	0.43214	0.0:0.207:0.793:0.0	.	91	Q8N910	CO056_HUMAN	T	91	ENSP00000315794:A91T	ENSP00000315794:A91T	A	-	1	0	C15orf56	38331993	0.223000	0.23663	0.001000	0.08648	0.178000	0.23041	1.053000	0.30442	1.136000	0.42199	-0.256000	0.11100	GCG		0.662	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418370.2	NM_001039905		5	14	5	14	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65622631	65622631	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858G>T	c.(1858-1860)Gcc>Tcc	p.A620S	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1858-1860)Gcc>Tcc		immunoglobulin superfamily, DCC subclass, member 3							156.0	127.0	137.0					15																	65622631		2201	4299	6500	SO:0001630	splice_region_variant	9543							g.chr15:65622631C>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1858+1G>T	15.37:g.65622631C>A							p.A620S	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			11	2109	-			620					O95215	Splice_Site	SNP	ENST00000327987.4	37	c.1858G>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000125	0.54147	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.65916	-0.18	5.26	4.31	0.51392	.	0.563532	0.17466	N	0.173257	T	0.47637	0.1456	L	0.27053	0.805	0.35470	D	0.797286	B	0.17465	0.022	B	0.10450	0.005	T	0.49844	-0.8896	9	.	.	.	-12.4775	12.4354	0.55596	0.0:0.9144:0.0:0.0856	.	620	Q8IVU1	IGDC3_HUMAN	S	620;483	ENSP00000332773:A620S	.	A	-	1	0	IGDCC3	63409684	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.590000	0.61013	1.132000	0.42129	0.655000	0.94253	GCC		0.567	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884	Missense_Mutation	9	78	9	78	---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:74883589C>T	ENST00000346246.5	+	6	1210	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	327	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGGGAGGGCCGGCGGCCCAG	0.612																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(979-981)Cgg>Tgg		AT rich interactive domain 3B (BRIGHT-like)							76.0	91.0	86.0					15																	74883589		2197	4296	6493	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883589C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.979C>T	15.37:g.74883589C>T	ENSP00000343126:p.Arg327Trp						p.R327W	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1210	+			327			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.979C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837167	0.71373	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.56611	0.45	5.13	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.995;1.0	T	0.73269	-0.4036	10	0.72032	D	0.01	-21.2017	13.6517	0.62314	0.5302:0.4698:0.0:0.0	.	327;327;327	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	W	327	ENSP00000343126:R327W	ENSP00000343126:R327W	R	+	1	2	ARID3B	72670642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.865000	0.27940	0.519000	0.28406	0.561000	0.74099	CGG		0.612	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		28	96	28	96	---	---	---	---
CPEB1	64506	broad.mit.edu	37	15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:83221233C>A	ENST00000562019.1	-	8	1528	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000563800.1_Missense_Mutation_p.K426N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	404	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AACTCACCTCCTTGCAGCGCA	0.522																																						ENST00000563800.1																			0				breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28						c.(1276-1278)aaG>aaT		cytoplasmic polyadenylation element binding protein 1							64.0	63.0	63.0					15																	83221233		2120	4247	6367	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83221233C>A	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1212G>T	15.37:g.83221233C>A	ENSP00000457836:p.Lys404Asn					RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N	p.K426N			Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		8	3003	-			404			Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1278G>T		.	.	.	.	.	.	.	.	.	.	C	18.79	3.699326	0.68501	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.84	2.94	0.34122	RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.33000	0.0848	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.91635	0.997;0.999;0.976;0.999	T	0.05767	-1.0865	10	0.87932	D	0	-10.669	7.6486	0.28336	0.0:0.6303:0.0:0.3697	.	402;399;404;399	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	N	399;399;324;329;402;173	ENSP00000397526:K324N;ENSP00000381591:K329N;ENSP00000261723:K402N;ENSP00000381592:K173N	ENSP00000261723:K402N	K	-	3	2	CPEB1	81018288	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.543000	0.36147	0.804000	0.34136	-0.251000	0.11542	AAG		0.522	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		7	27	7	27	---	---	---	---
PKD1	5310	broad.mit.edu	37	16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|MIR1225_ENST00000408729.1_RNA|RP11-304L19.3_ENST00000565937.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3698					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACGGTAGGCGTGCCCATGG	0.642																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(11092-11094)Gcc>Acc		polycystic kidney disease 1 (autosomal dominant)							108.0	108.0	108.0					16																	2143019		2198	4299	6497	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2143019C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11092G>A	16.37:g.2143019C>T	ENSP00000262304:p.Ala3698Thr					PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA	p.A3698T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN			38	11300	-			3698					Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.11092G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117501	0.37339	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.37752	1.18;1.18	3.46	3.46	0.39613	.	0.245550	0.40908	D	0.000985	T	0.47911	0.1471	L	0.41236	1.265	0.34943	D	0.750538	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.922	T	0.60193	-0.7311	10	0.59425	D	0.04	.	11.2706	0.49136	0.0:0.906:0.0:0.094	.	3697;3698	P98161-3;P98161	.;PKD1_HUMAN	T	3698;3697;3032	ENSP00000262304:A3698T;ENSP00000399501:A3697T	ENSP00000262304:A3698T	A	-	1	0	PKD1	2083020	0.997000	0.39634	0.903000	0.35520	0.535000	0.34838	3.984000	0.56923	1.954000	0.56735	0.561000	0.74099	GCC		0.642	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			11	73	11	73	---	---	---	---
THOC6	79228	broad.mit.edu	37	16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	HCFC1R1_ENST00000354679.3_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|HCFC1R1_ENST00000572355.1_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|HCFC1R1_ENST00000396916.1_5'Flank|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(391-393)gCt>gAt		THO complex 6 homolog (Drosophila)							120.0	102.0	108.0					16																	3076395		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3076395C>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.392C>A	16.37:g.3076395C>A	ENSP00000326531:p.Ala131Asp					THOC6_ENST00000574549.1_Missense_Mutation_p.A107D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|THOC6_ENST00000253952.9_Missense_Mutation_p.A131D	p.A131D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			6	688	+			131					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.392C>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645504	0.47258	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.29142	1.58;1.58	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.456841	0.25148	N	0.032761	T	0.33789	0.0875	M	0.65498	2.005	0.46749	D	0.999189	B;B	0.28850	0.225;0.103	B;B	0.26517	0.07;0.03	T	0.15350	-1.0440	10	0.72032	D	0.01	-19.6948	12.9836	0.58579	0.0:0.8377:0.1623:0.0	.	131;131	Q86W42-3;Q86W42	.;THOC6_HUMAN	D	131	ENSP00000326531:A131D;ENSP00000253952:A131D	ENSP00000253952:A131D	A	+	2	0	THOC6	3016396	1.000000	0.71417	0.979000	0.43373	0.954000	0.61252	3.284000	0.51708	2.696000	0.92011	0.561000	0.74099	GCT		0.542	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		20	23	20	23	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:21053359T>C	ENST00000261383.3	-	32	4627	c.4628A>G	c.(4627-4629)gAc>gGc	p.D1543G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			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)		CTTGAGATTGTCGGGCAGTTC	0.517																																						ENST00000261383.3																			0				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						c.(4627-4629)gAc>gGc		dynein, axonemal, heavy chain 3							88.0	82.0	84.0					16																	21053359		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21053359T>C	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.4628A>G	16.37:g.21053359T>C	ENSP00000261383:p.Asp1543Gly					DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	32	4627	-			1543			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.4628A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678545	0.68042	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.39787	1.06;1.06	4.82	4.82	0.62117	ATPase, AAA+ type, core (1);	0.129548	0.49916	D	0.000140	T	0.71762	0.3378	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	T	0.80712	-0.1260	10	0.87932	D	0	.	14.8466	0.70264	0.0:0.0:0.0:1.0	.	1543	Q8TD57	DYH3_HUMAN	G	1543	ENSP00000261383:D1543G;ENSP00000394245:D1543G	ENSP00000261383:D1543G	D	-	2	0	DNAH3	20960860	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.776000	0.85560	2.155000	0.67459	0.482000	0.46254	GAC		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		20	48	20	48	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T	rs533865105	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(874-876)Cga>Tga		interleukin 4 receptor							179.0	164.0	169.0					16																	27372111		2197	4300	6497	SO:0001587	stop_gained	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27372111C>T	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.874C>T	16.37:g.27372111C>T	ENSP00000379111:p.Arg292*					IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*|IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*	p.R292*	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			10	1133	+			292					B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Nonsense_Mutation	SNP	ENST00000395762.2	37	c.874C>T	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930157	0.92389	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	.	.	.	3.46	2.49	0.30216	.	0.631198	0.14109	N	0.340849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7972	8.8118	0.34971	0.0:0.7691:0.2309:0.0	.	.	.	.	X	292;292;277;292	.	ENSP00000170630:R292X	R	+	1	2	IL4R	27279612	0.001000	0.12720	0.086000	0.20670	0.376000	0.30014	0.916000	0.28651	1.011000	0.39340	0.462000	0.41574	CGA		0.557	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			28	65	28	65	---	---	---	---
TGFB1I1	7041	broad.mit.edu	37	16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(460-462)gCc>gTc		transforming growth factor beta 1 induced transcript 1							72.0	68.0	69.0					16																	31485718		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485718C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.461C>T	16.37:g.31485718C>T	ENSP00000378332:p.Ala154Val					TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	p.A154V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			6	591	+			154			Interaction with PTK2B.|Transcription activation (By similarity).		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.461C>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161581	0.94727	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.58797	0.31;0.32;0.32	5.23	5.23	0.72850	.	0.121563	0.53938	D	0.000044	T	0.77532	0.4144	M	0.82517	2.595	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.81174	-0.1053	10	0.72032	D	0.01	.	16.3165	0.82930	0.0:1.0:0.0:0.0	.	154	O43294	TGFI1_HUMAN	V	154;137;137	ENSP00000378332:A154V;ENSP00000355117:A137V;ENSP00000378327:A137V	ENSP00000355117:A137V	A	+	2	0	TGFB1I1	31393219	1.000000	0.71417	0.965000	0.40720	0.857000	0.48899	6.662000	0.74426	2.430000	0.82344	0.655000	0.94253	GCC		0.577	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			4	58	4	58	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CGCCTGCCTGGGCCTGCTGGC	0.627																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(46-48)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							64.0	70.0	68.0					16																	66413286		2202	4300	6502	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66413286G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.46G>A	16.37:g.66413286G>A	ENSP00000344115:p.Gly16Ser					CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	2	194	+		Ovarian(137;0.0955)	16					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.46G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492816	0.84962	.	.	ENSG00000179776	ENST00000341529;ENST00000379531	T	0.55234	0.53	4.28	-1.71	0.08133	.	.	.	.	.	T	0.36496	0.0969	N	0.08118	0	0.21325	N	0.999722	D	0.61080	0.989	P	0.55615	0.78	T	0.22417	-1.0217	9	0.30854	T	0.27	.	3.372	0.07224	0.4633:0.0:0.3488:0.1879	.	16	P33151	CADH5_HUMAN	S	16	ENSP00000344115:G16S	ENSP00000344115:G16S	G	+	1	0	CDH5	64970787	0.106000	0.21978	0.615000	0.29064	0.807000	0.45602	0.651000	0.24873	-0.133000	0.11537	0.462000	0.41574	GGC		0.627	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		23	59	23	59	---	---	---	---
CMTM1	113540	broad.mit.edu	37	16	66600560	66600560	+	Intron	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66600560C>T	ENST00000457188.2	+	1	202				CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000379500.2_Silent_p.T48T|CMTM1_ENST00000535705.1_Intron	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1						chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632																																						ENST00000379500.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7						c.(142-144)acC>acT		CKLF-like MARVEL transmembrane domain containing 1							69.0	77.0	74.0					16																	66600560		2201	4300	6501	SO:0001627	intron_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66600560C>T	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.81+63C>T	16.37:g.66600560C>T						CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000336328.6_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T	p.T48T	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	1	211	+		Ovarian(137;0.0563)	0			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	c.144C>T	CCDS45503.1																																																																																				0.632	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999		5	55	5	55	---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2230-2232)Gag>Aag		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							65.0	65.0	65.0					16																	67319227		2198	4300	6498	SO:0001583	missense	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67319227G>A	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.2230G>A	16.37:g.67319227G>A	ENSP00000353646:p.Glu744Lys					PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	13	4765	+			744			DH.		Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Missense_Mutation	SNP	ENST00000360461.5	37	c.2230G>A	CCDS32466.1	.	.	.	.	.	.	.	.	.	.	G	36	5.601918	0.96614	.	.	ENSG00000196155	ENST00000360461;ENST00000427155;ENST00000379344;ENST00000450733	D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.000000	0.33772	N	0.004561	D	0.99032	0.9669	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	D	0.99069	1.0833	10	0.87932	D	0	.	16.6264	0.84971	0.0:0.0:1.0:0.0	.	663;744	Q58EX7-2;Q58EX7	.;PKHG4_HUMAN	K	744;744;744;663	ENSP00000353646:E744K;ENSP00000401118:E744K;ENSP00000368649:E744K;ENSP00000398030:E663K	ENSP00000353646:E744K	E	+	1	0	PLEKHG4	65876728	1.000000	0.71417	0.931000	0.37212	0.766000	0.43426	9.809000	0.99208	2.178000	0.69098	0.561000	0.74099	GAG		0.622	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		22	28	22	28	---	---	---	---
CENPT	80152	broad.mit.edu	37	16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(580-582)gCc>gTc		centromere protein T							50.0	58.0	55.0					16																	67865241		2026	4186	6212	SO:0001583	missense	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865241G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.581C>T	16.37:g.67865241G>A	ENSP00000457810:p.Ala194Val					CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V	p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1129	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	194					Q96I29|Q96IC6|Q96NK9|Q9H901	Missense_Mutation	SNP	ENST00000562787.1	37	c.581C>T	CCDS42182.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707568	0.68615	.	.	ENSG00000102901	ENST00000440851;ENST00000219172;ENST00000445712	T;T;T	0.49720	0.87;0.87;0.77	5.36	3.36	0.38483	.	0.449691	0.21054	N	0.080951	T	0.33933	0.0880	L	0.46741	1.465	0.21020	N	0.999801	B;B;B	0.30146	0.154;0.27;0.154	B;B;B	0.32533	0.048;0.147;0.048	T	0.28870	-1.0030	10	0.02654	T	1	-3.2044	8.0515	0.30581	0.1966:0.0:0.8034:0.0	.	91;194;194	B4DMP9;Q96BT3;B3KPB2	.;CENPT_HUMAN;.	V	194;194;91	ENSP00000400140:A194V;ENSP00000219172:A194V;ENSP00000411594:A91V	ENSP00000219172:A194V	A	-	2	0	CENPT	66422742	0.815000	0.29118	0.990000	0.47175	0.995000	0.86356	1.992000	0.40737	1.256000	0.44068	0.644000	0.83932	GCC		0.617	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		17	28	17	28	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:68844157T>G	ENST00000261769.5	+	6	936	c.745T>G	c.(745-747)Ttg>Gtg	p.L249V	CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	249	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATGGAGATTTTGATCACGGT	0.483			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		4	Unknown(4)	p.?(4)	breast(4)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(745-747)Ttg>Gtg		cadherin 1, type 1, E-cadherin (epithelial)							159.0	147.0	151.0					16																	68844157		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68844157T>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.745T>G	16.37:g.68844157T>G	ENSP00000261769:p.Leu249Val					CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	p.L249V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	6	936	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	249			Cadherin 1.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.745T>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	T	0.121	-1.125193	0.01770	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.50548	0.74;0.74	5.22	4.26	0.50523	Cadherin (4);Cadherin-like (1);	0.154245	0.29775	N	0.011240	T	0.14442	0.0349	N	0.00996	-1.065	0.23391	N	0.997778	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.10377	T	0.69	.	4.5883	0.12294	0.0825:0.1508:0.6046:0.1621	.	249;249	Q9UII8;P12830	.;CADH1_HUMAN	V	249	ENSP00000261769:L249V;ENSP00000414946:L249V	ENSP00000261769:L249V	L	+	1	2	CDH1	67401658	0.939000	0.31865	0.963000	0.40424	0.402000	0.30811	1.695000	0.37763	1.319000	0.45190	-0.294000	0.09567	TTG		0.483	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		38	82	38	82	---	---	---	---
TERF2	7014	broad.mit.edu	37	16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000569611.2_5'Flank|TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	381					age-dependent telomere shortening (GO:0001309)|cell cycle (GO:0007049)|cellular senescence (GO:0090398)|in utero embryonic development (GO:0001701)|negative regulation of telomere maintenance (GO:0032205)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|positive regulation of telomere maintenance (GO:0032206)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)|telomeric loop formation (GO:0031627)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded telomeric DNA binding (GO:0003691)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517																																					Ovarian(13;63 524 30420 31710 34037)	ENST00000254942.3																			0				NS(2)|breast(1)|large_intestine(3)|lung(1)	7						c.(1141-1143)Tca>Cca		telomeric repeat binding factor 2							88.0	86.0	87.0					16																	69400909		2198	4300	6498	SO:0001583	missense	7014				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity	g.chr16:69400909A>G		CCDS10879.1, CCDS10879.2	16q22.1	2008-02-05			ENSG00000132604	ENSG00000132604			11729	protein-coding gene	gene with protein product		602027		TRBF2		9326950, 10226653	Standard	NM_005652		Approved	TRF2	uc002exd.4	Q15554	OTTHUMG00000137566	ENST00000254942.3:c.1141T>C	16.37:g.69400909A>G	ENSP00000254942:p.Ser381Pro					TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	p.S381P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN			7	1157	-		Ovarian(137;0.101)	339						Missense_Mutation	SNP	ENST00000254942.3	37	c.1141T>C		.	.	.	.	.	.	.	.	.	.	A	18.81	3.704116	0.68615	.	.	ENSG00000132604	ENST00000254942	.	.	.	6.07	4.96	0.65561	.	0.825204	0.11196	N	0.589354	T	0.56470	0.1987	L	0.46157	1.445	0.80722	D	1	D	0.55800	0.973	P	0.51582	0.674	T	0.46105	-0.9215	9	0.45353	T	0.12	-7.3134	10.5995	0.45358	0.8394:0.1606:0.0:0.0	.	339	Q15554	TERF2_HUMAN	P	339	.	ENSP00000254942:S339P	S	-	1	0	TERF2	67958410	0.756000	0.28383	0.994000	0.49952	0.851000	0.48451	0.812000	0.27211	1.080000	0.41073	0.533000	0.62120	TCA		0.517	TERF2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000268944.2			19	31	19	31	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	70934964	70934964	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(8989-8991)ctG>ctA		HYDIN, axonemal central pair apparatus protein							122.0	120.0	121.0					16																	70934964		1988	4161	6149	SO:0001819	synonymous_variant	54768							g.chr16:70934964C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8991G>A	16.37:g.70934964C>T							p.L2997L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			53	9141	-		Ovarian(137;0.0654)	2997					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.8991G>A	CCDS59269.1																																																																																				0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			18	88	18	88	---	---	---	---
ZNF19	7567	broad.mit.edu	37	16	71516014	71516014	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:71516014C>T	ENST00000288177.5	-	3	259	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000568446.1_5'Flank|AC010547.9_ENST00000561908.1_Missense_Mutation_p.A2T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565100.2_5'UTR	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	2					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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GGCATGGCTGCCATGACCTGG	0.493																																						ENST00000561908.1																			0											c.(4-6)Gca>Aca									61.0	50.0	53.0					16																	71516014		2198	4300	6498	SO:0001583	missense	7571							g.chr16:71516014C>T	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.4G>A	16.37:g.71516014C>T	ENSP00000288177:p.Ala2Thr					ZNF19_ENST00000567225.1_Missense_Mutation_p.A2T|ZNF19_ENST00000565637.1_Intron|ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.A2T|ZNF19_ENST00000564230.1_Missense_Mutation_p.A2T	p.A2T							3	506	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.4G>A	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165405	0.38217	.	.	ENSG00000157429	ENST00000288177	T	0.06068	3.35	2.76	-1.62	0.08372	.	.	.	.	.	T	0.05547	0.0146	L	0.51914	1.62	0.21527	N	0.999654	B	0.14805	0.011	B	0.08055	0.003	T	0.40213	-0.9575	9	0.41790	T	0.15	.	2.6199	0.04913	0.2154:0.3819:0.0:0.4026	.	2	P17023	ZNF19_HUMAN	T	2	ENSP00000288177:A2T	ENSP00000288177:A2T	A	-	1	0	ZNF19	70073515	0.963000	0.33076	0.833000	0.33012	0.222000	0.24845	-0.122000	0.10627	-0.343000	0.08351	0.591000	0.81541	GCA		0.493	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		10	11	10	11	---	---	---	---
KLHL36	79786	broad.mit.edu	37	16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567																																						ENST00000564996.1																			0				endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(499-501)Atc>Gtc		kelch-like family member 36							93.0	76.0	82.0					16																	84690912		2199	4300	6499	SO:0001583	missense	79786							g.chr16:84690912A>G	AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.499A>G	16.37:g.84690912A>G	ENSP00000456743:p.Ile167Val					KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN			3	640	+			167			BACK.		Q8N5G6|Q9H9U6	Missense_Mutation	SNP	ENST00000564996.1	37	c.499A>G	CCDS10948.1	.	.	.	.	.	.	.	.	.	.	A	0.431	-0.903431	0.02453	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.67523	-0.27	5.66	2.23	0.28157	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.24115	0.695	0.53688	D	0.999977	B;B	0.15930	0.015;0.0	B;B	0.16289	0.015;0.006	T	0.11591	-1.0581	10	0.19147	T	0.46	.	6.3315	0.21272	0.7258:0.134:0.1401:0.0	.	167;167	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	V	167	ENSP00000258157:I167V	ENSP00000258157:I167V	I	+	1	0	KLHL36	83248413	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	2.081000	0.41596	0.101000	0.17610	-0.371000	0.07208	ATC		0.567	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269084.2			8	49	8	49	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1543259	1543259	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642																																						ENST00000263071.4																			0				cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1084-1086)tcC>tcA		scavenger receptor class F, member 1							70.0	72.0	71.0					17																	1543259		2203	4300	6503	SO:0001819	synonymous_variant	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1543259G>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1086C>A	17.37:g.1543259G>T						SCARF1_ENST00000571272.1_Silent_p.S362S|SCARF1_ENST00000348987.3_Intron	p.S362S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	1135	-			362			EGF-like 6.		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	ENST00000263071.4	37	c.1086C>A	CCDS11007.1																																																																																				0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		7	35	7	35	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(733-735)gGc>gAc		olfactory receptor, family 3, subfamily A, member 1							81.0	78.0	79.0					17																	3195143		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195143C>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.734G>A	17.37:g.3195143C>T	ENSP00000313803:p.Gly245Asp					RP11-64J4.2_ENST00000573491.1_RNA	p.G245D	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	733	-			245					Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.734G>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908397	0.33721	.	.	ENSG00000180090	ENST00000323404	T	0.37915	1.17	5.01	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.254805	0.28365	N	0.015604	T	0.50069	0.1594	M	0.89785	3.06	0.09310	N	1	P	0.45126	0.851	P	0.47603	0.551	T	0.54906	-0.8223	10	0.87932	D	0	-15.9494	7.7715	0.29010	0.2745:0.577:0.1485:0.0	.	245	P47881	OR3A1_HUMAN	D	245	ENSP00000313803:G245D	ENSP00000313803:G245D	G	-	2	0	OR3A1	3141893	0.000000	0.05858	0.988000	0.46212	0.223000	0.24884	0.110000	0.15437	2.753000	0.94483	0.650000	0.86243	GGC		0.493	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			23	53	23	53	---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7224437	7224437	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Silent_p.G1116G|NEURL4_ENST00000574120.1_5'Flank|NEURL4_ENST00000570460.1_Silent_p.G1094G	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1118						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTCCCAGGCCATGCTCCT	0.612																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3352-3354)ggC>ggT		neuralized E3 ubiquitin protein ligase 4							62.0	65.0	64.0					17																	7224437		2192	4284	6476	SO:0001819	synonymous_variant	84461							g.chr17:7224437G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3354C>T	17.37:g.7224437G>A						NEURL4_ENST00000570460.1_Silent_p.G1094G|NEURL4_ENST00000315614.7_Silent_p.G1116G	p.G1118G	NM_032442.2	NP_115818.2					20	3369	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.3354C>T	CCDS42251.1																																																																																				0.612	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		4	45	4	45	---	---	---	---
MYH2	4620	broad.mit.edu	37	17	10448739	10448739	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Silent_p.Y143Y|MYH2_ENST00000397183.2_Silent_p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	143	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTGCCTCGGTAGGCTGTCA	0.522																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(427-429)taC>taT		myosin, heavy chain 2, skeletal muscle, adult							126.0	130.0	128.0					17																	10448739		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448739G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.429C>T	17.37:g.10448739G>A						MYH2_ENST00000397183.2_Silent_p.Y143Y|MYH2_ENST00000532183.2_Silent_p.Y143Y|CTC-297N7.11_ENST00000587182.2_RNA	p.Y143Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			5	813	-			143			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.429C>T	CCDS11156.1																																																																																				0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		43	88	43	88	---	---	---	---
ZNF286A	57335	broad.mit.edu	37	17	15619621	15619621	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15619621T>G	ENST00000464847.2	+	5	1136	c.583T>G	c.(583-585)Tgg>Ggg	p.W195G	ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	195					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)			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)		TGATGTATACTGGAAAAGCTT	0.378																																						ENST00000464847.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(583-585)Tgg>Ggg		zinc finger protein 286A							83.0	82.0	82.0					17																	15619621		2202	4298	6500	SO:0001583	missense	57335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:15619621T>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.583T>G	17.37:g.15619621T>G	ENSP00000464218:p.Trp195Gly					ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G|ZNF286A_ENST00000472486.1_3'UTR	p.W195G			Q9HBT8	Z286A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)	5	1136	+			195					B4DKF9|Q96JF3	Missense_Mutation	SNP	ENST00000464847.2	37	c.583T>G	CCDS11172.1	.	.	.	.	.	.	.	.	.	.	t	0.018	-1.466575	0.01053	.	.	ENSG00000187607	ENST00000421016;ENST00000412988;ENST00000395894	T;T	0.05996	3.72;3.36	4.06	2.88	0.33553	.	1.699520	0.03699	N	0.248240	T	0.02267	0.0070	N	0.01009	-1.055	0.36358	D	0.860533	B	0.06786	0.001	B	0.06405	0.002	T	0.43294	-0.9400	10	0.02654	T	1	-9.2627	7.8689	0.29554	0.0:0.0:0.335:0.665	.	195	Q9HBT8	Z286A_HUMAN	G	195;185;195	ENSP00000397163:W195G;ENSP00000408168:W185G	ENSP00000435872:W195G	W	+	1	0	ZNF286A	15560346	1.000000	0.71417	0.775000	0.31657	0.061000	0.15899	4.123000	0.57917	1.828000	0.53243	0.528000	0.53228	TGG		0.378	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130696.4	NM_020652		4	60	4	60	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A	rs560099866	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:25944348G>A	ENST00000319524.6	+	20	2587	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N	KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000398988.3_Missense_Mutation_p.D726N			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	863	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		17876	0.002		0.0	False		,,,				2504	0.0				Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(2176-2178)Gac>Aac		kinase suppressor of ras 1							32.0	34.0	33.0					17																	25944348		2011	4157	6168	SO:0001583	missense	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25944348G>A	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2587G>A	17.37:g.25944348G>A	ENSP00000323178:p.Asp863Asn					KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N|KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N	p.D726N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	21	2621	+	Lung NSC(42;0.00836)		861			Protein kinase.		F8WEA9|H7BYU0|Q13476	Missense_Mutation	SNP	ENST00000319524.6	37	c.2176G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.86|12.86	2.065225|2.065225	0.36470|0.36470	.|.	.|.	ENSG00000141068|ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982|ENST00000398988	T;T;T|.	0.48522|.	0.81;0.81;0.81|.	5.32|5.32	4.35|4.35	0.52113|0.52113	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.096478|.	0.64402|.	N|.	0.000001|.	T|T	0.39733|0.39733	0.1089|0.1089	N|N	0.11724|0.11724	0.165|0.165	0.45852|0.45852	D|D	0.998711|0.998711	B;B|.	0.24258|.	0.1;0.019|.	B;B|.	0.19148|.	0.024;0.012|.	T|T	0.11616|0.11616	-1.0580|-1.0580	10|5	0.22109|.	T|.	0.4|.	.|.	14.1505|14.1505	0.65381|0.65381	0.1411:0.0:0.8589:0.0|0.1411:0.0:0.8589:0.0	.|.	861;841|.	Q8IVT5;F5H0K8|.	KSR1_HUMAN;.|.	N|Q	863;841;726;726|576	ENSP00000323178:D863N;ENSP00000438795:D841N;ENSP00000268763:D726N|.	ENSP00000268763:D726N|.	D|R	+|+	1|2	0|0	KSR1|KSR1	22968475|22968475	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.896000|0.896000	0.52359|0.52359	3.405000|3.405000	0.52630|0.52630	0.643000|0.643000	0.30638|0.30638	-1.151000|-1.151000	0.01829|0.01829	GAC|CGA		0.607	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		4	17	4	17	---	---	---	---
RFFL	117584	broad.mit.edu	37	17	33344575	33344575	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(640-642)agC>agT		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							69.0	59.0	62.0					17																	33344575		2203	4300	6503	SO:0001819	synonymous_variant	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33344575G>A	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.642C>T	17.37:g.33344575G>A						RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000584655.1_Intron|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S	p.S214S			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	4	864	-		Ovarian(249;0.17)	214						Silent	SNP	ENST00000315249.7	37	c.642C>T	CCDS11286.1																																																																																				0.527	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		4	7	4	7	---	---	---	---
PLEKHM1	9842	broad.mit.edu	37	17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V|PLEKHM1_ENST00000580404.1_5'UTR	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647																																						ENST00000430334.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(3100-3102)gCt>gTt		pleckstrin homology domain containing, family M (with RUN domain) member 1							52.0	51.0	51.0					17																	43515294		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43515294G>A	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.3101C>T	17.37:g.43515294G>A	ENSP00000389913:p.Ala1034Val					PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	p.A1034V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN			12	3234	-	Renal(3;0.0405)		1034					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.3101C>T	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059471	0.76074	.	.	ENSG00000225190	ENST00000430334;ENST00000421073	T;T	0.64991	-0.12;-0.13	4.67	3.68	0.42216	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);	0.355818	0.27705	N	0.018189	T	0.51058	0.1652	L	0.42245	1.32	0.41243	D	0.986654	P;P	0.38223	0.57;0.623	B;B	0.35550	0.197;0.205	T	0.49872	-0.8893	10	0.32370	T	0.25	.	12.0837	0.53686	0.0:0.0:0.8274:0.1726	.	945;1034	F8W648;Q9Y4G2	.;PKHM1_HUMAN	V	1034;945	ENSP00000389913:A1034V;ENSP00000414352:A945V	ENSP00000414352:A945V	A	-	2	0	PLEKHM1	40871077	0.216000	0.23585	0.979000	0.43373	0.992000	0.81027	3.071000	0.50041	1.159000	0.42565	0.558000	0.71614	GCT		0.647	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		4	22	4	22	---	---	---	---
COPZ2	51226	broad.mit.edu	37	17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483																																						ENST00000006101.4																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(253-255)Cgg>Tgg		coatomer protein complex, subunit zeta 2							82.0	85.0	84.0					17																	46111238		2032	4198	6230	SO:0001583	missense	51226				intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat		g.chr17:46111238G>A	AB037938	CCDS74092.1	17q21.2	2008-07-18				ENSG00000005243			19356	protein-coding gene	gene with protein product	"""nonclathrin coat protein zeta-COP"", ""zeta2-COP"", ""zeta-2 coat protein"""	615526				11056392	Standard	NM_016429		Approved	MGC23008	uc002imy.3	Q9P299		ENST00000006101.4:c.253C>T	17.37:g.46111238G>A	ENSP00000006101:p.Arg85Trp					COPZ2_ENST00000584666.1_5'UTR	p.R85W	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN			4	252	-			87						Missense_Mutation	SNP	ENST00000006101.4	37	c.253C>T		.	.	.	.	.	.	.	.	.	.	G	10.45	1.352878	0.24512	.	.	ENSG00000005243	ENST00000006101	.	.	.	5.59	2.31	0.28768	Longin-like (1);AP complex, mu/sigma subunit (1);	0.070241	0.53938	D	0.000045	T	0.75391	0.3843	M	0.81239	2.535	0.40033	D	0.975554	D	0.76494	0.999	D	0.71656	0.974	T	0.78028	-0.2364	9	0.87932	D	0	-13.7446	8.8254	0.35052	0.074:0.0:0.5668:0.3593	.	87	Q9P299	COPZ2_HUMAN	W	85	.	ENSP00000006101:R85W	R	-	1	2	COPZ2	43466237	0.997000	0.39634	0.999000	0.59377	0.549000	0.35272	1.575000	0.36493	1.339000	0.45563	0.643000	0.83706	CGG		0.483	COPZ2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016429		3	13	3	13	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47677762C>T	ENST00000393328.2	-	11	1468	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393331.3_Missense_Mutation_p.R368H	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(1102-1104)cGc>cAc		speckle-type POZ protein							189.0	196.0	194.0					17																	47677762		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47677762C>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.1103G>A	17.37:g.47677762C>T	ENSP00000377001:p.Arg368His	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H	p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			12	1573	-			368					B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.1103G>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323239	0.60634	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.65	5.65	0.86999	.	0.116138	0.64402	D	0.000003	T	0.74794	0.3763	M	0.86028	2.79	0.80722	D	1	B	0.25667	0.131	B	0.18561	0.022	T	0.71170	-0.4671	10	0.31617	T	0.26	1.2459	19.5069	0.95121	0.0:1.0:0.0:0.0	.	368	O43791	SPOP_HUMAN	H	368;368;368;368;252;368;321	ENSP00000377001:R368H;ENSP00000377004:R368H;ENSP00000240327:R368H;ENSP00000425905:R368H;ENSP00000420908:R368H	ENSP00000240327:R368H	R	-	2	0	SPOP	45032761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.505000	0.81655	2.941000	0.99782	0.655000	0.94253	CGC		0.542	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		10	162	10	162	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		35	68	35	68	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492847	62492847	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612																																					Colon(3;18 21 435 17652 48887)	ENST00000539111.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(238-240)agT>agC		polymerase (DNA directed), gamma 2, accessory subunit							92.0	93.0	93.0					17																	62492847		2203	4300	6503	SO:0001819	synonymous_variant	11232				DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding	g.chr17:62492847A>G	U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.240T>C	17.37:g.62492847A>G							p.S80S	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;4.97e-11)		1	307	-	Breast(5;2.15e-14)		80					O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Silent	SNP	ENST00000539111.2	37	c.240T>C	CCDS32706.1																																																																																				0.612	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443820.1	NM_007215		22	62	22	62	---	---	---	---
ATP5H	10476	broad.mit.edu	37	17	73035039	73035039	+	Silent	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	KCTD2_ENST00000581589.1_Intron|RN7SL573P_ENST00000485340.2_RNA|ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368																																						ENST00000301587.4																			0				lung(1)|skin(1)	2						c.(472-474)atT>atC		ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d							77.0	76.0	76.0					17																	73035039		2203	4300	6503	SO:0001819	synonymous_variant	10476				ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity	g.chr17:73035039A>G	AF087135	CCDS11712.1, CCDS32727.1	17q25	2014-01-24	2010-06-11		ENSG00000167863	ENSG00000167863		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	845	protein-coding gene	gene with protein product			"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d"""			11042152	Standard	NM_006356		Approved	ATPQ, ATP5JD	uc002jmn.1	O75947	OTTHUMG00000179219	ENST00000301587.4:c.474T>C	17.37:g.73035039A>G						ATP5H_ENST00000344546.4_Silent_p.I134I|KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron	p.I158I	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN			6	521	-	all_lung(278;0.226)		158					B2R5L6|Q9H3J4	Silent	SNP	ENST00000301587.4	37	c.474T>C	CCDS11712.1																																																																																				0.368	ATP5H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445318.1	NM_006356		17	42	17	42	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(1549-1551)Tca>Gca		envoplakin							39.0	42.0	41.0					17																	74013981		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74013981A>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1549T>G	17.37:g.74013981A>C	ENSP00000301607:p.Ser517Ala					EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	p.S517A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			14	1802	-			517			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1549T>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	8.785	0.929177	0.18131	.	.	ENSG00000167880	ENST00000301607	T	0.63913	-0.07	4.88	-1.67	0.08238	.	0.237968	0.35235	N	0.003355	T	0.42154	0.1190	L	0.55103	1.725	0.09310	N	1	B;B	0.27229	0.047;0.172	B;B	0.25140	0.013;0.058	T	0.14559	-1.0468	10	0.10902	T	0.67	-0.644	1.4451	0.02362	0.3233:0.1629:0.3558:0.158	.	539;517	B7ZLH8;Q92817	.;EVPL_HUMAN	A	517	ENSP00000301607:S517A	ENSP00000301607:S517A	S	-	1	0	EVPL	71525576	0.001000	0.12720	0.013000	0.15412	0.047000	0.14425	0.053000	0.14184	0.003000	0.14656	0.459000	0.35465	TCA		0.657	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		10	19	10	19	---	---	---	---
RHBDF2	79651	broad.mit.edu	37	17	74467835	74467835	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74467835G>A	ENST00000313080.4	-	19	2724	c.2451C>T	c.(2449-2451)gcC>gcT	p.A817A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000591885.1_Silent_p.A788A	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612																																						ENST00000591885.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						c.(2362-2364)gcC>gcT		rhomboid 5 homolog 2 (Drosophila)							62.0	50.0	54.0					17																	74467835		2201	4299	6500	SO:0001819	synonymous_variant	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74467835G>A	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2451C>T	17.37:g.74467835G>A						RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A	p.A788A			Q6PJF5	RHDF2_HUMAN			19	2914	-			817					A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	ENST00000313080.4	37	c.2364C>T	CCDS32743.1																																																																																				0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		3	8	3	8	---	---	---	---
DUS1L	64118	broad.mit.edu	37	17	80016030	80016030	+	Silent	SNP	T	T	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582																																						ENST00000354321.7																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(1381-1383)ccA>ccC		dihydrouridine synthase 1-like (S. cerevisiae)							43.0	48.0	46.0					17																	80016030		2202	4298	6500	SO:0001819	synonymous_variant	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80016030T>G		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.1383A>C	17.37:g.80016030T>G						DUS1L_ENST00000306796.5_Silent_p.P461P	p.P461P			Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		13	1868	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		461					A6NHV4|Q96AI3	Silent	SNP	ENST00000354321.7	37	c.1383A>C	CCDS32775.1																																																																																				0.582	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156		12	39	12	39	---	---	---	---
ZNF750	79755	broad.mit.edu	37	17	80788498	80788498	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(1690-1692)ccG>ccA		zinc finger protein 750							60.0	65.0	63.0					17																	80788498		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80788498C>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.1692G>A	17.37:g.80788498C>T						TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000355528.4_Intron	p.P564P	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		3	2525	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	564					Q9H899	Silent	SNP	ENST00000269394.3	37	c.1692G>A	CCDS11819.1																																																																																				0.627	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		14	75	14	75	---	---	---	---
MYL12B	103910	broad.mit.edu	37	18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	9					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|regulation of cell shape (GO:0008360)	apical part of cell (GO:0045177)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)|lung(2)	4						GGCAAAGACCAAGACCACCAA	0.388																																						ENST00000581193.1																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(25-27)Aag>Gag		myosin, light chain 12B, regulatory							141.0	130.0	133.0					18																	3272921		2203	4300	6503	SO:0001583	missense	103910				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding	g.chr18:3272921A>G	AY320408	CCDS11831.1	18p11.31	2013-01-10			ENSG00000118680	ENSG00000118680		"""Myosins / Light chain"", ""EF-hand domain containing"""	29827	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2"""	609211				11942626	Standard	NM_033546		Approved	MRLC2	uc002klt.4	O14950	OTTHUMG00000131510	ENST00000581193.1:c.25A>G	18.37:g.3272921A>G	ENSP00000463559:p.Lys9Glu					MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E	p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN			2	408	+			9					D3DUH6|Q13182|Q7Z5Z4	Missense_Mutation	SNP	ENST00000581193.1	37	c.25A>G	CCDS11831.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950993	0.73787	.	.	ENSG00000118680	ENST00000237500;ENST00000400177;ENST00000400175;ENST00000400174	T;T	0.74421	-0.84;-0.84	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	L	0.45352	1.415	0.58432	D	0.999999	P	0.35124	0.485	B	0.32980	0.156	T	0.72114	-0.4388	10	0.72032	D	0.01	.	15.8573	0.78989	1.0:0.0:0.0:0.0	.	9	O14950	ML12B_HUMAN	E	9	ENSP00000237500:K9E;ENSP00000383037:K9E	ENSP00000237500:K9E	K	+	1	0	MYL12B	3262921	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.197000	0.70478	0.528000	0.53228	AAG		0.388	MYL12B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258908.1	NM_033546		29	73	29	73	---	---	---	---
CABLES1	91768	broad.mit.edu	37	18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398																																						ENST00000256925.7																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(913-915)Cgg>Tgg		Cdk5 and Abl enzyme substrate 1							46.0	44.0	44.0					18																	20768869		1810	4071	5881	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20768869C>T	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.913C>T	18.37:g.20768869C>T	ENSP00000256925:p.Arg305Trp					CABLES1_ENST00000585061.1_3'UTR|CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W	p.R305W	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN			2	913	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		305			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.913C>T	CCDS42417.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216521	0.95104	.	.	ENSG00000134508	ENST00000256925;ENST00000420687	T;T	0.49139	0.79;0.83	5.66	5.66	0.87406	.	0.113006	0.64402	D	0.000007	T	0.64260	0.2582	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	0.986;1.0	P;D	0.69654	0.636;0.965	T	0.64769	-0.6329	10	0.72032	D	0.01	-9.8525	19.8141	0.96558	0.0:1.0:0.0:0.0	.	40;305	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	W	305;40	ENSP00000256925:R305W;ENSP00000413851:R40W	ENSP00000256925:R305W	R	+	1	2	CABLES1	19022867	0.994000	0.37717	1.000000	0.80357	0.991000	0.79684	2.871000	0.48459	2.697000	0.92050	0.556000	0.70494	CGG		0.398	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	15	5	15	---	---	---	---
TRAPPC8	22878	broad.mit.edu	37	18	29488975	29488975	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:29488975T>C	ENST00000283351.4	-	7	1201		c.e7-2		TRAPPC8_ENST00000582513.1_Splice_Site|TRAPPC8_ENST00000582539.1_Splice_Site	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8						vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAAGCCATCTACTGAAAAAG	0.358																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.e7-2		trafficking protein particle complex 8							60.0	56.0	58.0					18																	29488975		2203	4300	6503	SO:0001630	splice_region_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29488975T>C	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.866-2A>G	18.37:g.29488975T>C						TRAPPC8_ENST00000582539.1_Splice_Site|TRAPPC8_ENST00000582513.1_Splice_Site		NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN			7	1201	-								A0JP15|B3KME5|Q9H0L2	Splice_Site	SNP	ENST00000283351.4	37		CCDS11901.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.965290	0.53507	.	.	ENSG00000153339	ENST00000283351	.	.	.	5.56	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2984	0.54860	0.0:0.0:0.1413:0.8587	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC8	27742973	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	3.090000	0.50191	2.115000	0.64714	0.528000	0.53228	.		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	Intron	11	30	11	30	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30950099	30950099	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:30950099A>G	ENST00000383096.3	-	6	445	c.263T>C	c.(262-264)gTa>gCa	p.V88A	CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A|CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	88																	AATATTTACTACGGCACAGCT	0.378																																						ENST00000383096.3																			0											c.(262-264)gTa>gCa		coiled-coil domain containing 178							86.0	78.0	81.0					18																	30950099		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30950099A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.263T>C	18.37:g.30950099A>G	ENSP00000372576:p.Val88Ala					CCDC178_ENST00000402325.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579916.1_Missense_Mutation_p.V88A|CCDC178_ENST00000579947.1_Missense_Mutation_p.V88A|CCDC178_ENST00000300227.8_Missense_Mutation_p.V88A|CCDC178_ENST00000403303.1_Missense_Mutation_p.V88A|CCDC178_ENST00000406524.2_Missense_Mutation_p.V88A|CCDC178_ENST00000583930.1_Missense_Mutation_p.V88A	p.V88A							6	445	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.263T>C	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	A	4.539	0.100114	0.08731	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.50277	2.32;2.32;2.31;2.31;2.31;0.75	5.5	1.66	0.24008	.	.	.	.	.	T	0.34745	0.0908	L	0.40543	1.245	0.09310	N	1	B;P;B;B;B	0.37500	0.341;0.597;0.206;0.341;0.341	B;B;B;B;B	0.37047	0.085;0.24;0.085;0.085;0.085	T	0.25676	-1.0125	9	0.66056	D	0.02	0.5166	3.7125	0.08425	0.6684:0.0:0.1751:0.1565	.	88;88;88;88;88	F8W7A7;A1L4G8;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	A	88	ENSP00000385591:V88A;ENSP00000372576:V88A;ENSP00000300227:V88A;ENSP00000385867:V88A;ENSP00000385234:V88A;ENSP00000382130:V88A	ENSP00000300227:V88A	V	-	2	0	C18orf34	29204097	0.005000	0.15991	0.034000	0.17996	0.177000	0.22998	0.998000	0.29744	0.036000	0.15547	0.454000	0.30748	GTA		0.378	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		14	38	14	38	---	---	---	---
SLC14A2	8170	broad.mit.edu	37	18	43248313	43248313	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2						transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.e15-1		solute carrier family 14 (urea transporter), member 2							90.0	87.0	88.0					18																	43248313		2203	4300	6503	SO:0001630	splice_region_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43248313G>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.1908-1G>A	18.37:g.43248313G>A						SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site		NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			15	2723	+								A8K8Q7|Q2TBD6|Q96PH5	Splice_Site	SNP	ENST00000255226.6	37		CCDS11924.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413037	0.42817	.	.	ENSG00000132874	ENST00000255226	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1372	0.89623	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC14A2	41502311	1.000000	0.71417	0.935000	0.37517	0.129000	0.20672	8.890000	0.92477	2.503000	0.84419	0.563000	0.77884	.		0.562	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		Intron	13	21	13	21	---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:66344197C>A	ENST00000299608.2	-	16	1654	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	446					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTAATACATCCTTGGGCTCCT	0.353																																						ENST00000299608.2																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(1336-1338)aaG>aaT		thioredoxin-related transmembrane protein 3							135.0	113.0	120.0					18																	66344197		2203	4300	6503	SO:0001583	missense	54495				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr18:66344197C>A	BX647846	CCDS32840.1	18q22	2011-10-19	2009-02-23	2009-02-23		ENSG00000166479		"""Protein disulfide isomerases"""	24718	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 13"""		"""thioredoxin domain containing 10"""	TXNDC10		15623505	Standard	NM_019022		Approved	FLJ20793, KIAA1830, PDIA13	uc002lkf.3	Q96JJ7		ENST00000299608.2:c.1338G>T	18.37:g.66344197C>A	ENSP00000299608:p.Lys446Asn						p.K446N	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN			16	1654	-			446					B3KV75|Q52LT7|Q8N5J0|Q9NWJ9	Missense_Mutation	SNP	ENST00000299608.2	37	c.1338G>T	CCDS32840.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540657	0.65085	.	.	ENSG00000166479	ENST00000299608	T	0.15256	2.44	5.61	-1.48	0.08745	.	0.134608	0.64402	D	0.000018	T	0.24699	0.0599	M	0.65975	2.015	0.80722	D	1	D	0.53151	0.958	P	0.50082	0.63	T	0.05566	-1.0877	10	0.87932	D	0	.	12.1987	0.54313	0.0:0.6069:0.0:0.3931	.	446	Q96JJ7	TMX3_HUMAN	N	446	ENSP00000299608:K446N	ENSP00000299608:K446N	K	-	3	2	TMX3	64495177	0.983000	0.35010	0.725000	0.30721	0.974000	0.67602	0.172000	0.16704	-0.526000	0.06383	0.650000	0.86243	AAG		0.353	TMX3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420155.1	NM_019022		7	74	7	74	---	---	---	---
CIRBP	1153	broad.mit.edu	37	19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1271165C>T	ENST00000588030.1	+	3	390	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589710.1_Nonsense_Mutation_p.Q44*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAGACCCAGAGATCTCG	0.567																																						ENST00000589710.1																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(130-132)Cag>Tag		cold inducible RNA binding protein							108.0	110.0	109.0					19																	1271165		2203	4300	6503	SO:0001587	stop_gained	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1271165C>T	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.130C>T	19.37:g.1271165C>T	ENSP00000468788:p.Gln44*					CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*	p.Q44*			Q14011	CIRBP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	277	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	44			RRM.		B3KT17|B4E2X2	Nonsense_Mutation	SNP	ENST00000588030.1	37	c.130C>T	CCDS12059.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790734	0.50102	.	.	ENSG00000099622	ENST00000320936;ENST00000413636	.	.	.	4.12	4.12	0.48240	.	0.282775	0.34460	U	0.003942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0693	10.4036	0.44243	0.1956:0.8044:0.0:0.0	.	.	.	.	X	44	.	ENSP00000322887:Q44X	Q	+	1	0	CIRBP	1222165	0.995000	0.38212	0.105000	0.21289	0.041000	0.13682	2.785000	0.47782	1.839000	0.53478	0.551000	0.68910	CAG		0.567	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1	NM_001280		19	43	19	43	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2222180	2222180	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCCCACCAGCTCTCCT	0.701																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3010-3012)caC>caT		DOT1-like histone H3K79 methyltransferase							31.0	41.0	38.0					19																	2222180		2007	4144	6151	SO:0001819	synonymous_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222180C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3012C>T	19.37:g.2222180C>T							p.H1004H	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3048	+		Hepatocellular(1079;0.137)	1004					O60379|Q96JL1	Silent	SNP	ENST00000398665.3	37	c.3012C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	3.858	-0.030518	0.07543	.	.	ENSG00000104885	ENST00000440640	.	.	.	4.43	1.01	0.19927	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	-17.6956	1.9619	0.03387	0.1345:0.4887:0.1316:0.2452	.	.	.	.	I	791	.	.	T	+	2	0	DOT1L	2173180	0.989000	0.36119	0.969000	0.41365	0.403000	0.30841	0.118000	0.15605	0.331000	0.23511	0.462000	0.41574	ACC		0.701	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		12	16	12	16	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:9058758G>C	ENST00000397910.4	-	3	28891	c.28688C>G	c.(28687-28689)aCa>aGa	p.T9563R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9565	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)				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						GCCAGGCATTGTTGTGGAAAC	0.493																																						ENST00000397910.4																			0				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						c.(28687-28689)aCa>aGa		mucin 16, cell surface associated							88.0	83.0	85.0					19																	9058758		1964	4142	6106	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058758G>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.28688C>G	19.37:g.9058758G>C	ENSP00000381008:p.Thr9563Arg						p.T9563R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28891	-			9565			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28688C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	5.133	0.210114	0.09757	.	.	ENSG00000181143	ENST00000397910	T	0.22336	1.96	2.5	0.21	0.15231	.	.	.	.	.	T	0.10294	0.0252	N	0.14661	0.345	.	.	.	P	0.46020	0.871	B	0.40534	0.332	T	0.18085	-1.0348	8	0.87932	D	0	.	2.8612	0.05588	0.1597:0.0:0.5668:0.2734	.	9563	B5ME49	.	R	9563	ENSP00000381008:T9563R	ENSP00000381008:T9563R	T	-	2	0	MUC16	8919758	0.002000	0.14202	0.000000	0.03702	0.180000	0.23129	0.624000	0.24462	0.133000	0.18654	0.305000	0.20034	ACA		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	34	31	34	---	---	---	---
ZNF44	51710	broad.mit.edu	37	19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428																																						ENST00000356109.5																			0				ovary(1)	1						c.(1315-1317)gGc>gAc		zinc finger protein 44							80.0	82.0	81.0					19																	12383898		2203	4300	6503	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12383898C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.1316G>A	19.37:g.12383898C>T	ENSP00000348419:p.Gly439Asp					ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	p.G439D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1434	-		Renal(1328;0.157)	439					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.1316G>A	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178539	0.57692	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.17370	2.28;3.18;2.28	0.997	-0.0892	0.13670	Zinc finger, C2H2 (1);	.	.	.	.	T	0.19406	0.0466	N	0.13272	0.32	.	.	.	D;D	0.89917	0.999;1.0	D;D	0.97110	0.984;1.0	T	0.27606	-1.0069	8	0.87932	D	0	.	4.8655	0.13606	0.0:0.2215:0.0:0.7785	.	439;391	P15621;F8W7T7	ZNF44_HUMAN;.	D	439;439;391;391	ENSP00000377008:G439D;ENSP00000348419:G439D;ENSP00000347910:G391D	ENSP00000347910:G391D	G	-	2	0	ZNF44	12244898	0.000000	0.05858	0.005000	0.12908	0.758000	0.43043	-2.231000	0.01206	-0.055000	0.13244	0.305000	0.20034	GGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		31	68	31	68	---	---	---	---
CD97	976	broad.mit.edu	37	19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000358600.3_Missense_Mutation_p.Y676H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(2305-2307)Tat>Cat		CD97 molecule							169.0	137.0	148.0					19																	14517970		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14517970T>C		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2305T>C	19.37:g.14517970T>C	ENSP00000242786:p.Tyr769His					CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H	p.Y769H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			18	2385	+			769					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.2305T>C	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.542744	0.45280	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.41758	0.99;0.99;0.99	5.16	4.13	0.48395	GPCR, family 2-like (1);	0.000000	0.30762	N	0.008935	T	0.69106	0.3074	M	0.92317	3.295	0.41327	D	0.987212	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73313	-0.4022	10	0.87932	D	0	.	9.2071	0.37296	0.0:0.0881:0.0:0.9119	.	676;720;769	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	769;720;676;719	ENSP00000242786:Y769H;ENSP00000349918:Y720H;ENSP00000351413:Y676H	ENSP00000242786:Y769H	Y	+	1	0	CD97	14378970	1.000000	0.71417	0.142000	0.22268	0.008000	0.06430	7.320000	0.79064	0.787000	0.33731	0.533000	0.62120	TAT		0.617	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		9	86	9	86	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19748735	19748735	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000445806.2_Silent_p.L307L|GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(919-921)ctG>ctT		GEM interacting protein							60.0	48.0	52.0					19																	19748735		2203	4300	6503	SO:0001819	synonymous_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748735C>A	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.921G>T	19.37:g.19748735C>A						GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L	p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			10	1058	-			307					A0AVN9|B7ZLZ0	Silent	SNP	ENST00000203556.4	37	c.921G>T	CCDS12408.1																																																																																				0.672	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		8	15	8	15	---	---	---	---
GPATCH1	55094	broad.mit.edu	37	19	33608948	33608948	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTGGCTCACGGTATGTCAGTA	0.478																																					Pancreas(67;88 1713 4567 18227)	ENST00000170564.2																			0				breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40						c.e16+1		G patch domain containing 1							58.0	55.0	56.0					19																	33608948		2203	4300	6503	SO:0001630	splice_region_variant	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33608948G>A	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.2413+1G>A	19.37:g.33608948G>A								NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN			16	2727	+	Esophageal squamous(110;0.137)							Q8IZV6|Q8N3B7|Q9NW94	Splice_Site	SNP	ENST00000170564.2	37		CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.699626	0.30142	.	.	ENSG00000076650	ENST00000170564	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.49483	D	0.999794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9757	0.71269	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPATCH1	38300788	0.989000	0.36119	0.355000	0.25773	0.007000	0.05969	3.808000	0.55598	2.356000	0.79943	0.563000	0.77884	.		0.478	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025	Intron	7	20	7	20	---	---	---	---
LMTK3	114783	broad.mit.edu	37	19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597																																						ENST00000600059.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16						c.(514-516)Ccc>Acc		lemur tyrosine kinase 3							70.0	81.0	77.0					19																	49012151		2141	4262	6403	SO:0001583	missense	114783							g.chr19:49012151G>T	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.514C>A	19.37:g.49012151G>T	ENSP00000472020:p.Pro172Thr					LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T	p.P172T						OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	5	741	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.514C>A		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997372	0.54147	.	.	ENSG00000142235	ENST00000270238	D	0.82081	-1.57	4.01	2.94	0.34122	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000008	T	0.80737	0.4680	N	0.20881	0.62	0.46149	D	0.998895	D	0.64830	0.994	P	0.58266	0.836	T	0.78097	-0.2337	10	0.33141	T	0.24	.	12.0344	0.53417	0.0:0.1766:0.8234:0.0	.	172	Q96Q04	LMTK3_HUMAN	T	201	ENSP00000270238:P201T	ENSP00000270238:P201T	P	-	1	0	LMTK3	53703963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.473000	0.53122	0.956000	0.37904	0.561000	0.74099	CCC		0.597	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		19	32	19	32	---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612																																						ENST00000252826.5																			0				breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49						c.(3430-3432)gAc>gGc		transient receptor potential cation channel, subfamily M, member 4							25.0	27.0	26.0					19																	49714069		2201	4300	6501	SO:0001583	missense	54795				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding	g.chr19:49714069A>G	AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3431A>G	19.37:g.49714069A>G	ENSP00000252826:p.Asp1144Gly					TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G|TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G	p.D1144G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)	22	3557	+		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)	1144			Calmodulin-binding.		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	ENST00000252826.5	37	c.3431A>G	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.203933	0.79127	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.58797	0.36;0.31;0.5	5.09	5.09	0.68999	.	0.106720	0.64402	D	0.000010	T	0.68016	0.2955	M	0.69823	2.125	0.52501	D	0.999956	D;P;P;D	0.64830	0.994;0.901;0.837;0.989	P;P;P;P	0.54706	0.759;0.634;0.634;0.68	T	0.69698	-0.5075	10	0.41790	T	0.15	-29.1724	14.1529	0.65398	1.0:0.0:0.0:0.0	.	790;970;999;1144	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	G	1144;999;790	ENSP00000252826:D1144G;ENSP00000407492:D999G;ENSP00000347944:D790G	ENSP00000252826:D1144G	D	+	2	0	TRPM4	54405881	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.199000	0.72112	2.047000	0.60756	0.459000	0.35465	GAC		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465543.2	NM_017636		3	14	3	14	---	---	---	---
AP2A1	160	broad.mit.edu	37	19	50302915	50302915	+	Silent	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50302915G>T	ENST00000359032.5	+	10	1164	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000354293.5_Silent_p.R388R	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652																																						ENST00000354293.5																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(1162-1164)cgG>cgT		adaptor-related protein complex 2, alpha 1 subunit							62.0	68.0	66.0					19																	50302915		2203	4300	6503	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50302915G>T	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1164G>T	19.37:g.50302915G>T						AP2A1_ENST00000359032.5_Silent_p.R388R	p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	10	1330	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	388					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.1164G>T	CCDS46148.1																																																																																				0.652	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1			5	56	5	56	---	---	---	---
ADRA1D	146	broad.mit.edu	37	20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TCGTGTGGGACGCCTAGGGAC	0.667																																						ENST00000379453.4																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1636-1638)Gtc>Atc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)						25.0	28.0	27.0					20																	4202253		2203	4298	6501	SO:0001583	missense	146				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr20:4202253C>T	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1636G>A	20.37:g.4202253C>T	ENSP00000368766:p.Val546Ile						p.V546I	NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN			2	1752	-			546	KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).				Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	37	c.1636G>A	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.066428	0.36470	.	.	ENSG00000171873	ENST00000379453	T	0.60299	0.2	3.48	3.48	0.39840	.	154.089000	0.00166	U	0.000000	T	0.48502	0.1503	L	0.31207	0.915	0.28313	N	0.922596	B	0.31705	0.336	B	0.26864	0.074	T	0.38112	-0.9676	10	0.20519	T	0.43	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	546	P25100	ADA1D_HUMAN	I	546	ENSP00000368766:V546I	ENSP00000368766:V546I	V	-	1	0	ADRA1D	4150253	0.765000	0.28485	0.029000	0.17559	0.631000	0.37964	1.177000	0.31969	1.893000	0.54813	0.305000	0.20034	GTC		0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678		3	23	3	23	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(2971-2973)aaG>aaT		kinesin family member 16B							132.0	134.0	133.0					20																	16359674		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16359674C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2973G>T	20.37:g.16359674C>A	ENSP00000347076:p.Lys991Asn					KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N	p.K991N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	3130	-			991			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.2973G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808132	0.70797	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003;ENST00000408042	T;T;T;T	0.77489	-1.02;-1.02;1.94;-1.1	5.52	0.861	0.19048	.	0.047866	0.85682	D	0.000000	T	0.81513	0.4838	L	0.59436	1.845	0.44061	D	0.996801	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.997;0.998;0.982;0.937	T	0.76822	-0.2817	10	0.38643	T	0.18	.	6.7644	0.23558	0.0:0.3983:0.0:0.6017	.	991;991;991;991	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	991;991;835;217;991	ENSP00000347076:K991N;ENSP00000347995:K991N;ENSP00000367242:K217N;ENSP00000384164:K991N	ENSP00000347076:K991N	K	-	3	2	KIF16B	16307674	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	0.941000	0.29005	0.388000	0.25054	0.655000	0.94253	AAG		0.547	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		31	78	31	78	---	---	---	---
NANP	140838	broad.mit.edu	37	20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:25596622G>A	ENST00000304788.3	-	2	912	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	229					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						CTCTAGCACAGAAGAAACCAT	0.408																																						ENST00000304788.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(685-687)tCt>tTt		N-acetylneuraminic acid phosphatase							106.0	97.0	100.0					20																	25596622		2203	4300	6503	SO:0001583	missense	140838				N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity	g.chr20:25596622G>A	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.686C>T	20.37:g.25596622G>A	ENSP00000302441:p.Ser229Phe						p.S229F	NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN			2	912	-			229					B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	ENST00000304788.3	37	c.686C>T	CCDS13173.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.190721	0.78789	.	.	ENSG00000170191	ENST00000304788	T	0.52983	0.64	5.34	5.34	0.76211	HAD-like domain (2);	0.160556	0.56097	D	0.000026	T	0.59702	0.2213	L	0.36672	1.1	0.51012	D	0.999907	D	0.89917	1.0	D	0.71414	0.973	T	0.62590	-0.6822	10	0.87932	D	0	-18.3111	16.5938	0.84789	0.0:0.0:1.0:0.0	.	229	Q8TBE9	NANP_HUMAN	F	229	ENSP00000302441:S229F	ENSP00000302441:S229F	S	-	2	0	NANP	25544622	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.687000	0.74552	2.511000	0.84671	0.485000	0.47835	TCT		0.408	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078457.2	NM_152667		14	63	14	63	---	---	---	---
MTG2	26164	broad.mit.edu	37	20	60773005	60773005	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:60773005C>T	ENST00000370823.3	+	4	468	c.450C>T	c.(448-450)ggC>ggT	p.G150G	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	150	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										GGCGCAGTGGCGCCGTCCTCT	0.622																																						ENST00000370823.3																			0											c.(448-450)ggC>ggT		mitochondrial ribosome-associated GTPase 2							91.0	83.0	86.0					20																	60773005		2203	4300	6503	SO:0001819	synonymous_variant	26164							g.chr20:60773005C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.450C>T	20.37:g.60773005C>T						MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron	p.G150G	NM_015666.3	NP_056481.1					4	468	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	ENST00000370823.3	37	c.450C>T	CCDS13492.1																																																																																				0.622	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		12	35	12	35	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(2023-2025)cCc>cTc		mediator complex subunit 15							84.0	67.0	73.0					22																	20939447		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20939447C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2024C>T	22.37:g.20939447C>T	ENSP00000263205:p.Pro675Leu					MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L|MED15_ENST00000542773.1_3'UTR	p.P675L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		16	2093	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	675					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2024C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980091	0.74474	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	4.68	4.68	0.58851	Mediator complex, subunit Med15, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.79787	0.4506	M	0.80332	2.49	0.80722	D	1	D;D;B;D;P;D	0.89917	1.0;1.0;0.121;1.0;0.946;1.0	D;D;B;D;P;D	0.91635	0.999;0.999;0.069;0.998;0.507;0.999	T	0.83168	-0.0095	9	0.87932	D	0	.	15.4264	0.75055	0.0:1.0:0.0:0.0	.	605;654;291;609;635;675	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	L	524;635;675;609;564;609;605	.	ENSP00000263205:P675L	P	+	2	0	MED15	19269447	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.566000	0.82347	2.308000	0.77769	0.313000	0.20887	CCC		0.642	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		19	27	19	27	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30416462	30416462	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30416462C>A	ENST00000401950.2	+	17	3156	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000351488.3_Silent_p.A938A|MTMR3_ENST00000333027.3_Silent_p.A938A|MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000406629.1_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2812-2814)gcC>gcA		myotubularin related protein 3							80.0	73.0	75.0					22																	30416462		2203	4300	6503	SO:0001819	synonymous_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30416462C>A	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2814C>A	22.37:g.30416462C>A						CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.A802A|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A|MTMR3_ENST00000406629.1_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA	p.A938A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	3142	+			938					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	ENST00000401950.2	37	c.2814C>A	CCDS13870.1																																																																																				0.587	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		20	47	20	47	---	---	---	---
RNF215	200312	broad.mit.edu	37	22	30776081	30776081	+	Silent	SNP	C	C	T	rs567963097		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		16328	0.0		0.0	False		,,,				2504	0.001					ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(976-978)gcG>gcA		ring finger protein 215							79.0	86.0	84.0					22																	30776081		2203	4300	6503	SO:0001819	synonymous_variant	200312					integral to membrane	zinc ion binding	g.chr22:30776081C>T		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.978G>A	22.37:g.30776081C>T							p.A326A	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	1052	-			326					A6NEL1	Silent	SNP	ENST00000382363.3	37	c.978G>A	CCDS33633.1	.	.	.	.	.	.	.	.	.	.	C	0.035	-1.309092	0.01342	.	.	ENSG00000099999	ENST00000215798	.	.	.	3.86	-7.73	0.01245	.	.	.	.	.	T	0.46521	0.1397	.	.	.	0.50313	D	0.999861	.	.	.	.	.	.	T	0.57602	-0.7783	4	.	.	.	-3.9113	6.4576	0.21938	0.2231:0.0885:0.5144:0.174	.	.	.	.	S	264	.	.	G	-	1	0	RNF215	29106081	0.000000	0.05858	0.066000	0.19879	0.026000	0.11368	-3.877000	0.00344	-3.990000	0.00084	-2.061000	0.00397	GGT		0.647	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		5	72	5	72	---	---	---	---
RNF215	200312	broad.mit.edu	37	22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E	RP1-130H16.16_ENST00000332468.4_RNA	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657																																						ENST00000382363.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						c.(910-912)Aag>Gag		ring finger protein 215							54.0	63.0	60.0					22																	30776149		2203	4300	6503	SO:0001583	missense	200312					integral to membrane	zinc ion binding	g.chr22:30776149T>C		CCDS33633.1	22q12.2	2013-01-09			ENSG00000099999	ENSG00000099999		"""RING-type (C3HC4) zinc fingers"""	33434	protein-coding gene	gene with protein product							Standard	NM_001017981		Approved		uc003ahp.3	Q9Y6U7	OTTHUMG00000151016	ENST00000382363.3:c.910A>G	22.37:g.30776149T>C	ENSP00000371800:p.Lys304Glu						p.K304E	NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN			7	984	-			304					A6NEL1	Missense_Mutation	SNP	ENST00000382363.3	37	c.910A>G	CCDS33633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.657403|4.657403	0.88154|0.88154	.|.	.|.	ENSG00000099999|ENSG00000099999	ENST00000382363|ENST00000215798	T|.	0.18960|.	2.18|.	3.61|3.61	3.61|3.61	0.41365|0.41365	.|.	0.197313|.	0.42294|.	D|.	0.000723|.	T|T	0.43411|0.43411	0.1246|0.1246	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	P|.	0.49799|.	0.622|.	T|T	0.25398|0.25398	-1.0133|-1.0133	10|5	0.25751|.	T|.	0.34|.	-24.3446|-24.3446	10.9128|10.9128	0.47118|0.47118	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	304|.	Q9Y6U7|.	RN215_HUMAN|.	E|R	304|241	ENSP00000371800:K304E|.	ENSP00000371800:K304E|.	K|Q	-|-	1|2	0|0	RNF215|RNF215	29106149|29106149	0.984000|0.984000	0.35163|0.35163	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.391000|1.391000	0.34475|0.34475	1.643000|1.643000	0.50594|0.50594	0.459000|0.459000	0.35465|0.35465	AAG|CAA		0.657	RNF215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320960.1	NM_001017981		10	65	10	65	---	---	---	---
GAL3ST1	9514	broad.mit.edu	37	22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(610-612)Tac>Cac		galactose-3-O-sulfotransferase 1							80.0	69.0	73.0					22																	30951602		2203	4297	6500	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951602A>G	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.610T>C	22.37:g.30951602A>G	ENSP00000385735:p.Tyr204His					GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H	p.Y204H			Q99999	G3ST1_HUMAN			3	927	-			204					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.610T>C	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257977	0.59321	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827	T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	5.25	5.25	0.73442	.	0.054893	0.85682	D	0.000000	T	0.35393	0.0930	M	0.72894	2.215	0.80722	D	1	P	0.35033	0.481	B	0.40038	0.317	T	0.17018	-1.0383	10	0.48119	T	0.1	-10.3438	14.7721	0.69688	1.0:0.0:0.0:0.0	.	204	Q99999	G3ST1_HUMAN	H	204;204;204;204;204;204;204;204;205;204	ENSP00000385825:Y204H;ENSP00000385735:Y204H;ENSP00000384122:Y204H;ENSP00000384388:Y204H;ENSP00000343234:Y204H;ENSP00000385207:Y204H;ENSP00000402587:Y204H;ENSP00000390545:Y204H;ENSP00000395080:Y205H;ENSP00000405017:Y204H	ENSP00000343234:Y204H	Y	-	1	0	GAL3ST1	29281602	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.232000	0.95325	1.987000	0.57996	0.397000	0.26171	TAC		0.627	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		6	67	6	67	---	---	---	---
IL2RB	3560	broad.mit.edu	37	22	37524301	37524301	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(1489-1491)ggG>ggA		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						24.0	27.0	26.0					22																	37524301		2202	4288	6490	SO:0001819	synonymous_variant	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37524301C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1491G>A	22.37:g.37524301C>T							p.G497G	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			10	1689	-			497					B2R765	Silent	SNP	ENST00000216223.5	37	c.1491G>A	CCDS13942.1																																																																																				0.692	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			6	15	6	15	---	---	---	---
TAB1	10454	broad.mit.edu	37	22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(589-591)gGg>gTg		TGF-beta activated kinase 1/MAP3K7 binding protein 1							160.0	122.0	135.0					22																	39814776		2203	4300	6503	SO:0001583	missense	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|endosome membrane	catalytic activity|protein binding	g.chr22:39814776G>T	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.590G>T	22.37:g.39814776G>T	ENSP00000216160:p.Gly197Val					TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			6	652	+			197			PP2C-like.		Q2PP09|Q8IZW2	Missense_Mutation	SNP	ENST00000216160.6	37	c.590G>T	CCDS13993.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261553	0.80358	.	.	ENSG00000100324	ENST00000216160;ENST00000331454	T;T	0.16743	2.32;2.32	4.89	4.89	0.63831	Protein phosphatase 2C-like (4);	0.146694	0.46758	D	0.000274	T	0.46521	0.1397	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.912;0.972;0.999	T	0.51052	-0.8754	10	0.72032	D	0.01	-14.7886	18.2498	0.89998	0.0:0.0:1.0:0.0	.	197;197;341	Q15750-2;Q15750;Q59FT7	.;TAB1_HUMAN;.	V	197	ENSP00000216160:G197V;ENSP00000333049:G197V	ENSP00000216160:G197V	G	+	2	0	TAB1	38144722	1.000000	0.71417	0.988000	0.46212	0.776000	0.43924	8.145000	0.89625	2.539000	0.85634	0.655000	0.94253	GGG		0.527	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		12	39	12	39	---	---	---	---
WBP2NL	164684	broad.mit.edu	37	22	42423017	42423017	+	Silent	SNP	C	C	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(760-762)gcC>gcA		WBP2 N-terminal like							134.0	154.0	147.0					22																	42423017		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42423017C>A	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.762C>A	22.37:g.42423017C>A						WBP2NL_ENST00000543212.1_Silent_p.A180A	p.A254A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			6	793	+			254			10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.762C>A	CCDS14029.1																																																																																				0.597	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		9	187	9	187	---	---	---	---
RAB9A	9367	broad.mit.edu	37	X	13727114	13727114	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					GTP catabolic process (GO:0006184)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438																																						ENST00000464506.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(247-249)tgC>tgT		RAB9A, member RAS oncogene family							144.0	137.0	140.0					X																	13727114		2203	4300	6503	SO:0001819	synonymous_variant	9367				protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	g.chrX:13727114C>T	U44103	CCDS14156.1	Xp22.2	2010-04-19	2007-01-15	2007-01-15	ENSG00000123595	ENSG00000123595		"""RAB, member RAS oncogene"""	9792	protein-coding gene	gene with protein product		300284	"""RAB9, member RAS oncogene family"""	RAB9		9126495	Standard	NM_004251		Approved		uc010neh.3	P51151	OTTHUMG00000021156	ENST00000464506.1:c.249C>T	X.37:g.13727114C>T						RAB9A_ENST00000243325.5_3'UTR	p.C83C	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN			3	528	+			83					A8K390|Q6ICN1	Silent	SNP	ENST00000464506.1	37	c.249C>T	CCDS14156.1																																																																																				0.438	RAB9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055802.1	NM_004251		15	80	15	80	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19037719	19037719	+	Silent	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:19037719C>T	ENST00000379869.3	-	15	871	c.708G>A	c.(706-708)caG>caA	p.Q236Q	GPR64_ENST00000354791.3_Silent_p.Q220Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000379878.3_Silent_p.Q220Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000360279.4_Silent_p.Q214Q	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(658-660)caG>caA		G protein-coupled receptor 64							89.0	82.0	84.0					X																	19037719		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19037719C>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.708G>A	X.37:g.19037719C>T						GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000360279.4_Silent_p.Q214Q|GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000354791.3_Silent_p.Q220Q	p.Q220Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			14	901	-	Hepatocellular(33;0.183)		236					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.660G>A	CCDS43923.1																																																																																				0.398	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			8	15	8	15	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46887491	46887491	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15583	0.0		0.0	False		,,,				2504	0.0					ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(673-675)Gtc>Atc									362.0	217.0	267.0					X																	46887491		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887491G>A																												ENST00000218343.4:c.673G>A	X.37:g.46887491G>A	ENSP00000218343:p.Val225Ile					PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			6	971	+			225						Missense_Mutation	SNP	ENST00000218343.4	37	c.673G>A	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	5.002	0.186131	0.09495	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.87491	-2.26;-2.26	5.78	0.725	0.18242	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.092186	0.64402	N	0.000001	T	0.68192	0.2974	N	0.04148	-0.265	0.27040	N	0.964034	B	0.06786	0.001	B	0.10450	0.005	T	0.53851	-0.8380	9	.	.	.	.	9.5355	0.39220	0.745:0.0:0.255:0.0	.	225	Q92613	JADE3_HUMAN	I	225	ENSP00000380373:V225I;ENSP00000218343:V225I	.	V	+	1	0	PHF16	46772435	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	1.012000	0.29924	-0.227000	0.09884	-0.198000	0.12761	GTC		0.488	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			21	4	21	4	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51639838	51639838	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:51639838C>T	ENST00000375722.1	+	4	1339	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	MAGED1_ENST00000375695.2_Missense_Mutation_p.P419S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617										Multiple Myeloma(10;0.10)																												ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(1255-1257)Ccc>Tcc		melanoma antigen family D, 1							36.0	35.0	35.0					X																	51639838		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51639838C>T	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1087C>T	X.37:g.51639838C>T	ENSP00000364874:p.Pro363Ser	Multiple Myeloma(10;0.10)				MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	p.P419S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			5	1408	+	Ovarian(276;0.236)		363			22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1255C>T	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.285225	0.40394	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.84	2.97	0.34412	.	0.000000	0.34531	N	0.003882	T	0.51007	0.1649	L	0.38175	1.15	0.30581	N	0.762541	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.941	T	0.48139	-0.9061	10	0.13108	T	0.6	.	9.0221	0.36206	0.0:0.8798:0.0:0.1202	.	419;363	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	S	363;363;363;419	ENSP00000364927:P363S;ENSP00000364874:P363S;ENSP00000325333:P363S;ENSP00000364847:P419S	ENSP00000325333:P363S	P	+	1	0	MAGED1	51656578	0.999000	0.42202	1.000000	0.80357	0.803000	0.45373	2.698000	0.47068	0.737000	0.32582	0.284000	0.19432	CCC		0.617	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		9	11	9	11	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67937675	67937675	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:67937675C>T	ENST00000252336.6	+	5	1051	c.679C>T	c.(679-681)Cca>Tca	p.P227S	STARD8_ENST00000374597.3_Missense_Mutation_p.P227S|STARD8_ENST00000374599.3_Missense_Mutation_p.P307S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	227					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGACCACAAACCAGGCACATT	0.647																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(679-681)Cca>Tca		StAR-related lipid transfer (START) domain containing 8							56.0	36.0	43.0					X																	67937675		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937675C>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.679C>T	X.37:g.67937675C>T	ENSP00000252336:p.Pro227Ser					STARD8_ENST00000374599.3_Missense_Mutation_p.P307S|STARD8_ENST00000374597.3_Missense_Mutation_p.P227S	p.P227S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			5	1051	+			227					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.679C>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	c	18.11	3.551762	0.65311	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.76709	-1.04;-0.85;-1.04	4.4	3.53	0.40419	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.81802	2.56	0.33595	D	0.601614	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.96	D	0.89287	0.3616	10	0.87932	D	0	.	9.2596	0.37603	0.0:0.8909:0.0:0.1091	.	307;227	Q92502-2;Q92502	.;STAR8_HUMAN	S	227;307;227	ENSP00000252336:P227S;ENSP00000363727:P307S;ENSP00000363725:P227S	ENSP00000252336:P227S	P	+	1	0	STARD8	67854400	1.000000	0.71417	0.990000	0.47175	0.888000	0.51559	7.121000	0.77160	0.866000	0.35629	0.597000	0.82753	CCA		0.647	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		3	11	3	11	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70613199	70613199	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70613199T>C	ENST00000373790.4	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000449580.1_Missense_Mutation_p.S1033P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(3097-3099)Tca>Cca		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							129.0	117.0	121.0					X																	70613199		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613199T>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3097T>C	X.37:g.70613199T>C	ENSP00000362895:p.Ser1033Pro					TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P	p.S1033P			P21675	TAF1_HUMAN			21	3148	+	Renal(35;0.156)	all_lung(315;0.000321)	1033					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.3097T>C	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	33	5.209650	0.95069	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13657	2.58;2.65;2.62;2.57	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.999	T	0.48714	-0.9011	10	0.87932	D	0	.	14.6462	0.68762	0.0:0.0:0.0:1.0	.	1033;1033;1054	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	P	1033;1033;1054;1054	ENSP00000362895:S1033P;ENSP00000389000:S1033P;ENSP00000406549:S1054P;ENSP00000276072:S1054P	ENSP00000276072:S1054P	S	+	1	0	TAF1	70529924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.482000	0.81143	1.839000	0.53478	0.486000	0.48141	TCA		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		28	6	28	6	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429592	135429592	+	Missense_Mutation	SNP	G	G	A	rs370044190		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3727-3729)Gtg>Atg		G protein-coupled receptor 112							226.0	191.0	203.0					X																	135429592		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429592G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3727G>A	X.37:g.135429592G>A	ENSP00000377699:p.Val1243Met					GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M	p.V1243M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4018	+	Acute lymphoblastic leukemia(192;0.000127)		1243					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3727G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	g	6.224	0.409426	0.11812	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.35973	1.31;1.31;1.28;1.41;1.28	3.05	-0.0882	0.13674	.	.	.	.	.	T	0.18882	0.0453	N	0.19112	0.55	0.09310	N	1	B;B;B	0.24368	0.102;0.012;0.007	B;B;B	0.18871	0.015;0.023;0.01	T	0.21793	-1.0235	9	0.26408	T	0.33	.	5.2108	0.15316	0.4987:0.0:0.5013:0.0	.	1180;1038;1243	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1243;1243;1038;1180;1038	ENSP00000377699:V1243M;ENSP00000359686:V1243M;ENSP00000416526:V1038M;ENSP00000287534:V1180M;ENSP00000377697:V1038M	ENSP00000287534:V1180M	V	+	1	0	GPR112	135257258	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.179000	0.16840	-0.002000	0.14469	-0.523000	0.04350	GTG		0.458	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	72	7	72	---	---	---	---
SLITRK4	139065	broad.mit.edu	37	X	142716669	142716669	+	Silent	SNP	G	G	A			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:142716669G>A	ENST00000381779.4	-	2	2481	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	SLITRK4_ENST00000338017.4_Silent_p.S752S|SLITRK4_ENST00000356928.1_Silent_p.S752S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	752						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAATCCCTGCTAGGGAATA	0.383																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2254-2256)agC>agT		SLIT and NTRK-like family, member 4							98.0	98.0	98.0					X																	142716669		2203	4300	6503	SO:0001819	synonymous_variant	139065					integral to membrane		g.chrX:142716669G>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2256C>T	X.37:g.142716669G>A						SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	p.S752S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2481	-	Acute lymphoblastic leukemia(192;6.56e-05)		752					Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	c.2256C>T	CCDS14679.1																																																																																				0.383	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		17	63	17	63	---	---	---	---
LMNA	4000	broad.mit.edu	37	1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156104218delA	ENST00000368300.4	+	3	750	c.538delA	c.(538-540)aagfs	p.K181fs	LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	181	Coil 1B.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGTGAGGCCAAGAAGCAACT	0.542									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																													ENST00000368300.4																			0				NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10						c.(538-540)aagfs		lamin A/C							68.0	63.0	64.0					1																	156104218		2203	4300	6503	SO:0001589	frameshift_variant	4000	Werner syndrome;Hutchinson-Gilford Progeria Syndrome	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr1:156104218delA	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.538delA	1.37:g.156104218delA	ENSP00000357283:p.Lys181fs					LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs	p.K181fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN			3	750	+	Hepatocellular(266;0.158)		181			Coil 1B.|Rod.		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Frame_Shift_Del	DEL	ENST00000368300.4	37	c.538delA	CCDS1129.1																																																																																				0.542	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		15	33	15	33	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:249211828delT	ENST00000329291.5	+	3	1192	c.1045delT	c.(1045-1047)tttfs	p.F350fs	PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000355360.4_Frame_Shift_Del_p.F99fs	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(292-294)tttfs		piggyBac transposable element derived 2							112.0	116.0	115.0					1																	249211828		2203	4300	6503	SO:0001589	frameshift_variant	267002							g.chr1:249211828delT	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1045delT	1.37:g.249211828delT	ENSP00000331643:p.Phe350fs					PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	p.F99fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	562	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	350					B3KVR8|Q6MZF8	Frame_Shift_Del	DEL	ENST00000329291.5	37	c.292delT	CCDS31128.1																																																																																				0.438	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	144	7	144	---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A	rs63750510		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:47693894_47693895insA	ENST00000233146.2	+	10	1831_1832	c.1608_1609insA	c.(1609-1611)aaafs	p.K537fs	MSH2_ENST00000406134.1_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	537					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(1609-1611)aaafs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47693894_47693895insA	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.1613dupA	2.37:g.47693899_47693899dupA	ENSP00000233146:p.Lys537fs					MSH2_ENST00000233146.2_Frame_Shift_Ins_p.K537fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K471fs	p.K537fs			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1670_1671	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	537					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.1608_1609insA	CCDS1834.1																																																																																				0.342	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			22	40	22	40	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10429962	10429962	+	Splice_Site	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10429962delT	ENST00000352432.4	-	5	975	c.906delA	c.(904-906)aaa>aa	p.K302fs	ATP2B2_ENST00000397077.1_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs|ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			1	Deletion - Frameshift(1)	p.A303fs*56(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(904-906)aaa>aa		ATPase, Ca++ transporting, plasma membrane 2							283.0	257.0	266.0					3																	10429962		2203	4300	6503	SO:0001630	splice_region_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10429962delT	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.907+1A>-	3.37:g.10429962delT						ATP2B2_ENST00000343816.4_Splice_Site_p.K302fs|ATP2B2_ENST00000360273.2_Splice_Site_p.K302fs|ATP2B2_ENST00000352432.4_Splice_Site_p.K302fs|ATP2B2_ENST00000383800.4_Splice_Site_p.K302fs	p.K302fs			Q01814	AT2B2_HUMAN			8	1481	-			302					O00766|Q12994|Q16818	Splice_Site	DEL	ENST00000352432.4	37	c.906delA	CCDS33701.1																																																																																				0.453	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	Frame_Shift_Del	48	94	48	94	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:25674067delT	ENST00000264331.4	-	10	1135	c.1136delA	c.(1135-1137)aacfs	p.N379fs	TOP2B_ENST00000435706.2_Frame_Shift_Del_p.N374fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CCATATATGGTTTTTTACCTG	0.299																																						ENST00000435706.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(1120-1122)aacfs		topoisomerase (DNA) II beta 180kDa							38.0	36.0	37.0					3																	25674067		1785	4053	5838	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25674067delT	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1136delA	3.37:g.25674067delT	ENSP00000264331:p.Asn379fs					TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs	p.N374fs			Q02880	TOP2B_HUMAN			10	1322	-			379					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.1121delA																																																																																					0.299	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				14	21	14	21	---	---	---	---
LPP	4026	broad.mit.edu	37	3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-	rs369623619		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:188327517_188327519delCTC	ENST00000312675.4	+	6	1244_1246	c.998_1000delCTC	c.(997-1002)actcct>act	p.P335del	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000543006.1_In_Frame_Del_p.P335del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	335	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGGGTACACTCCTCCTGGAGC	0.552			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(997-1002)actcct>act		LIM domain containing preferred translocation partner in lipoma																																				SO:0001651	inframe_deletion	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188327517_188327519delCTC	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.998_1000delCTC	3.37:g.188327520_188327522delCTC	ENSP00000318089:p.Pro335del					LPP_ENST00000543006.1_In_Frame_Del_p.P335del|LPP_ENST00000448637.1_In_Frame_Del_p.P335del|LPP_ENST00000471917.1_3'UTR	p.P335del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	6	1244_1246	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	335			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	In_Frame_Del	DEL	ENST00000312675.4	37	c.998_1000delCTC	CCDS3291.1																																																																																				0.552	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		17	66	17	66	---	---	---	---
GP5	2814	broad.mit.edu	37	3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agagccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(1669-1674)agagccfs		glycoprotein V (platelet)																																				SO:0001589	frameshift_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117340_194117341delCT	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1671_1672delAG	3.37:g.194117348_194117349delCT	ENSP00000383931:p.Arg557fs					GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs	p.RA557fs			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	1742_1743	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	557					D1MER9	Frame_Shift_Del	DEL	ENST00000401815.1	37	c.1671_1672delAG	CCDS3307.1																																																																																				0.446	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		7	198	7	198	---	---	---	---
KIF2A	3796	broad.mit.edu	37	5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:61677057delT	ENST00000401507.3	+	19	2323	c.2012delT	c.(2011-2013)atafs	p.I671fs	KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000381103.2_Frame_Shift_Del_p.I651fs	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	671					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GAGCAAAAAATAGACATTTTA	0.348																																						ENST00000381103.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15						c.(1951-1953)atafs		kinesin heavy chain member 2A							179.0	195.0	190.0					5																	61677057		2203	4300	6503	SO:0001589	frameshift_variant	3796				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding	g.chr5:61677057delT	BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.2012delT	5.37:g.61677057delT	ENSP00000385622:p.Ile671fs					KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000509663.2_Intron	p.I651fs	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN		Lung(70;0.14)	20	2437	+		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)	671					A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Frame_Shift_Del	DEL	ENST00000401507.3	37	c.1952delT	CCDS3980.2																																																																																				0.348	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1	NM_004520		49	101	49	101	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)attfs	p.I1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980	Calx-beta 14. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401																																						ENST00000405460.2																			1	Insertion - Frameshift(1)	p.S1982fs*2(1)	large_intestine(1)	NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5938-5940)attfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979676_89979677insT	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5944dupT	5.37:g.89979682_89979682dupT	ENSP00000384582:p.Ile1980fs						p.I1980fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	6034_6035	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1980					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.5938_5939insT	CCDS47246.1																																																																																				0.401	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	23	15	23	---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:159344293delG	ENST00000306675.3	+	1	504	c.381delG	c.(379-381)ctgfs	p.L127fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	127					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	TGGATGTCCTGTGCTGCACAG	0.622																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(379-381)ctgfs		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						101.0	87.0	92.0					5																	159344293		2203	4300	6503	SO:0001589	frameshift_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159344293delG	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.381delG	5.37:g.159344293delG	ENSP00000306662:p.Leu127fs						p.L127fs	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	504	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	127					B0LPE1	Frame_Shift_Del	DEL	ENST00000306675.3	37	c.381delG	CCDS4347.1																																																																																				0.622	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			32	38	32	38	---	---	---	---
NT5C3A	51251	broad.mit.edu	37	7	33061665	33061666	+	Splice_Site	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:33061665_33061666insT	ENST00000242210.7	-	4	444_445	c.368_369insA	c.(367-369)aag>aaAg	p.K123fs	NT5C3A_ENST00000396152.2_Splice_Site_p.K84fs|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	123					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.K123K(1)|p.K84K(1)									TAGTGTTTACCTTTTTTCTACA	0.322																																						ENST00000396152.2																			2	Substitution - coding silent(2)	p.K123K(1)|p.K84K(1)	endometrium(2)			GRCh37	CI032516	NT5C3	I		c.(250-252)aag>aaAg		5'-nucleotidase, cytosolic IIIA																																				SO:0001630	splice_region_variant	51251							g.chr7:33061665_33061666insT	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.369+1->A	7.37:g.33061671_33061671dupT						AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000610140.1_Splice_Site_p.K118fs|NT5C3A_ENST00000242210.7_Splice_Site_p.K123fs|NT5C3A_ENST00000405342.1_Splice_Site_p.K84fs|NT5C3A_ENST00000409467.1_Splice_Site_p.K72fs|NT5C3A_ENST00000381626.2_Splice_Site_p.K72fs|NT5C3A_ENST00000409787.1_Splice_Site_p.K84fs	p.K84fs	NM_016489.12	NP_057573.2					5	553_554	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Splice_Site	INS	ENST00000242210.7	37	c.251_252insA	CCDS34616.1																																																																																				0.322	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	Frame_Shift_Ins	4	7	4	7	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-	rs544796091	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:138657029delC	ENST00000263604.3	+	12	1131	c.1131delC	c.(1129-1131)cacfs	p.H377fs	KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000298480.5_Frame_Shift_Del_p.H396fs			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	377					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACGCCCACCCCCGGCTCC	0.642																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1186-1188)cacfs		potassium channel, subfamily T, member 1							155.0	146.0	149.0					9																	138657029		2203	4300	6503	SO:0001589	frameshift_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657029delC	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1131delC	9.37:g.138657029delC	ENSP00000263604:p.His377fs					KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs	p.H396fs			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	12	1262	+		Myeloproliferative disorder(178;0.0821)	396					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Frame_Shift_Del	DEL	ENST00000263604.3	37	c.1188delC																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		12	40	12	40	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:55762087_55762088insT	ENST00000278409.1	-	1	13_14	c.14_15insA	c.(13-15)aatfs	p.N5fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	5					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGGTATAATTTTTTCTGGT	0.307																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(13-15)aatfs		olfactory receptor, family 5, subfamily F, member 1																																				SO:0001589	frameshift_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55762087_55762088insT	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.15dupA	11.37:g.55762093_55762093dupT	ENSP00000278409:p.Asn5fs						p.N5fs	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	13_14	-	Esophageal squamous(21;0.00448)		5					Q495D1|Q6IFB9	Frame_Shift_Ins	INS	ENST00000278409.1	37	c.14_15insA	CCDS31515.1																																																																																				0.307	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		16	44	16	44	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)attfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GCAGTCACAATTTTTTATGGG	0.348																																						ENST00000303039.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(748-750)attfs		olfactory receptor, family 8, subfamily J, member 1							128.0	115.0	119.0					11																	56128471		2201	4296	6497	SO:0001589	frameshift_variant	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128471delT	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.749delT	11.37:g.56128471delT	ENSP00000304060:p.Ile250fs						p.I250fs	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	781	+	Esophageal squamous(21;0.00448)		250					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Frame_Shift_Del	DEL	ENST00000303039.3	37	c.749delT	CCDS31529.1																																																																																				0.348	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		8	113	8	113	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)gggfs	p.G498fs	PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552																																						ENST00000318304.8																		PPFIBP1/ALK(3)	0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32						c.(1492-1494)gggfs		PTPRF interacting protein, binding protein 1 (liprin beta 1)							69.0	72.0	71.0					12																	27829391		2203	4300	6503	SO:0001589	frameshift_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829391delG	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1492delG	12.37:g.27829391delG	ENSP00000314724:p.Gly498fs					PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs|PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs	p.G498fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN			18	1775	+	Lung SC(9;0.0873)		498					O75336|Q86X70|Q9NY03|Q9ULJ0	Frame_Shift_Del	DEL	ENST00000318304.8	37	c.1492delG	CCDS55812.1																																																																																				0.552	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		22	55	22	55	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:72013161delA	ENST00000378743.3	-	27	5436	c.5078delT	c.(5077-5079)ttgfs	p.L1693fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1693					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTTCCGCAAAAATGGAAG	0.348																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5077-5079)ttgfs		zinc finger, C3H1-type containing							61.0	56.0	57.0					12																	72013161		1810	4070	5880	SO:0001589	frameshift_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72013161delA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5078delT	12.37:g.72013161delA	ENSP00000368017:p.Leu1693fs						p.L1693fs	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			27	5436	-			1693					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Frame_Shift_Del	DEL	ENST00000378743.3	37	c.5078delT	CCDS41813.1																																																																																				0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		15	21	15	21	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)atttttgaafs	p.IFE502fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGACTTTGATATTTTTGAACTGGAGGC	0.493																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(1504-1512)atttttgaafs		phosphodiesterase 8A																																				SO:0001589	frameshift_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85659319_85659325delATTTTTG	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.1504_1510delATTTTTG	15.37:g.85659319_85659325delATTTTTG	ENSP00000311453:p.Ile502fs					PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs|PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs	p.IFE502fs			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		17	1756_1762	+	Colorectal(223;0.227)		502					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Frame_Shift_Del	DEL	ENST00000310298.4	37	c.1504_1510delATTTTTG	CCDS10336.1																																																																																				0.493	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		22	55	22	55	---	---	---	---
PFN1	5216	broad.mit.edu	37	17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)cagaaa>caa	p.K70del	PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	70					actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cell death (GO:0008219)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of ATPase activity (GO:0032781)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of ruffle assembly (GO:1900029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|adenyl-nucleotide exchange factor activity (GO:0000774)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|proline-rich region binding (GO:0070064)			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562																																						ENST00000225655.5																			0				NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(205-210)cagaaa>caa		profilin 1																																				SO:0001651	inframe_deletion	5216				actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding	g.chr17:4850039_4850041delTTC	BC057828	CCDS11061.1	17p13.2	2010-07-09			ENSG00000108518	ENSG00000108518			8881	protein-coding gene	gene with protein product		176610				3356709, 1968707	Standard	NM_005022		Approved		uc002gaa.4	P07737	OTTHUMG00000099396	ENST00000225655.5:c.207_209delGAA	17.37:g.4850039_4850041delTTC	ENSP00000225655:p.Lys70del					PFN1_ENST00000574872.1_In_Frame_Del_p.K34del	p.K70del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN			2	826_828	-			70					Q53Y44	In_Frame_Del	DEL	ENST00000225655.5	37	c.207_209delGAA	CCDS11061.1																																																																																				0.562	PFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216853.1	NM_005022		22	67	22	67	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)cagfs	p.Q1833fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs|NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5497-5499)cagfs		nuclear receptor corepressor 1							58.0	62.0	61.0					17																	15965099		2203	4299	6502	SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15965099delG	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5497delC	17.37:g.15965099delG	ENSP00000268712:p.Gln1833fs					NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs	p.Q1833fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	5754	-			1833			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	ENST00000268712.3	37	c.5497delC	CCDS11175.1																																																																																				0.532	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		17	56	17	56	---	---	---	---
CACNB1	782	broad.mit.edu	37	17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-	rs374654931		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tatfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1663-1665)tatfs		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)																																			SO:0001589	frameshift_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37331578_37331579delAT		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1664_1665delAT	17.37:g.37331578_37331579delAT	ENSP00000377840:p.Tyr555fs		OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	869	RP5-906A24.2_ENST00000579256.1_RNA	p.Y555fs	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN			14	1871_1872	-			555					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Frame_Shift_Del	DEL	ENST00000394303.3	37	c.1664_1665delAT	CCDS42311.1																																																																																				0.649	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3			10	204	10	204	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1111-1116)gagaag>gag		endo-beta-N-acetylglucosaminidase																																				SO:0001651	inframe_deletion	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079175_77079177delAGA	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1112_1114delAGA	17.37:g.77079178_77079180delAGA	ENSP00000462333:p.Lys373del		OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1173	ENGASE_ENST00000584568.1_3'UTR	p.K373del	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			8	1112_1114	+			373			BRCT.		Q659F0|Q8TB86|Q9H6U4	In_Frame_Del	DEL	ENST00000579016.1	37	c.1112_1114delAGA	CCDS42394.1																																																																																				0.562	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		19	67	19	67	---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:45805663_45805664insC	ENST00000262891.4	+	17	2285_2286	c.1954_1955insC	c.(1954-1956)gccfs	p.A652fs	MARK4_ENST00000300843.4_Frame_Shift_Ins_p.P679fs	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	652					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639																																						ENST00000300843.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(2035-2037)cccfs		MAP/microtubule affinity-regulating kinase 4																																				SO:0001589	frameshift_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45805663_45805664insC	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1960dupC	19.37:g.45805669_45805669dupC	ENSP00000262891:p.Ala652fs					MARK4_ENST00000262891.4_Frame_Shift_Ins_p.A652fs	p.P679fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	18	2331_2332	+		all_neural(266;0.224)|Ovarian(192;0.231)	0					Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Frame_Shift_Ins	INS	ENST00000262891.4	37	c.2034_2035insC	CCDS56097.1																																																																																				0.639	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		42	132	42	132	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aaafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					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.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393																																						ENST00000600228.1																			1	Insertion - Frameshift(1)	p.P744fs*3(1)	large_intestine(1)	breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2227-2229)aaafs		zinc finger protein 616							121.0	123.0	122.0					19																	52618188		2203	4300	6503	SO:0001589	frameshift_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618188delT	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2229delA	19.37:g.52618188delT	ENSP00000471000:p.Lys743fs					ZNF616_ENST00000330123.5_3'UTR	p.K743fs	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2490	-			743					B3KRV1|Q0P658|Q658V7	Frame_Shift_Del	DEL	ENST00000600228.1	37	c.2229delA	CCDS33090.1																																																																																				0.393	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		11	85	11	85	---	---	---	---
PAXBP1	94104	broad.mit.edu	37	21	34132172	34132173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:34132172_34132173insT	ENST00000331923.4	-	6	1297_1298	c.1108_1109insA	c.(1108-1110)acafs	p.T370fs	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	370					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGTATTATCTGTTTTTTGAGAT	0.406																																						ENST00000331923.4																			0											c.(1108-1110)acafs		PAX3 and PAX7 binding protein 1																																				SO:0001589	frameshift_variant	94104							g.chr21:34132172_34132173insT	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1109dupA	21.37:g.34132178_34132178dupT	ENSP00000328992:p.Thr370fs					PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.T370fs|PAXBP1_ENST00000472588.1_5'UTR	p.T370fs	NM_016631.3	NP_057715.2					6	1297_1298	-								D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Ins	INS	ENST00000331923.4	37	c.1108_1109insA	CCDS13619.1																																																																																				0.406	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		26	85	26	85	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:19226837delA	ENST00000263200.10	-	5	828	c.756delT	c.(754-756)tttfs	p.F252fs	CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	252	Globular terminal domain.|WD40-like repeat 5.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCTGGAGGAAAAAACACAT	0.428			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(754-756)tttfs		clathrin, heavy chain-like 1							207.0	206.0	206.0					22																	19226837		1917	4128	6045	SO:0001589	frameshift_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19226837delA		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.756delT	22.37:g.19226837delA	ENSP00000445677:p.Phe252fs					CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs	p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			5	828	-	Colorectal(54;0.0993)		252			Globular terminal domain.		B7Z7U5|Q14017|Q15808|Q15809	Frame_Shift_Del	DEL	ENST00000263200.10	37	c.756delT	CCDS46662.1																																																																																				0.428	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		42	97	42	97	---	---	---	---
GNAZ	2781	broad.mit.edu	37	22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23438097_23438099delTCA	ENST00000248996.4	+	2	881_883	c.215_217delTCA	c.(214-219)ctcatc>ctc	p.I74del	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	74					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACAAGCCCCTCATCATCTACAA	0.606																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(214-219)ctcatc>ctc		guanine nucleotide binding protein (G protein), alpha z polypeptide																																				SO:0001651	inframe_deletion	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438097_23438099delTCA		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.215_217delTCA	22.37:g.23438100_23438102delTCA	ENSP00000248996:p.Ile74del					RTDR1_ENST00000216036.4_Intron	p.I74del	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	881_883	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		74					B2R6C1|Q4QRJ6	In_Frame_Del	DEL	ENST00000248996.4	37	c.215_217delTCA	CCDS13804.1																																																																																				0.606	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		17	160	17	160	---	---	---	---
GTSE1	51512	broad.mit.edu	37	22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:46725429delA	ENST00000454366.1	+	11	2313	c.2101delA	c.(2101-2103)aaafs	p.K701fs		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	682					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACATGAATAAAAATGTGGC	0.517																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(2101-2103)aaafs		G-2 and S-phase expressed 1							93.0	83.0	86.0					22																	46725429		2203	4300	6503	SO:0001589	frameshift_variant	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46725429delA	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.2101delA	22.37:g.46725429delA	ENSP00000415430:p.Lys701fs						p.K701fs	NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	11	2313	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	682					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Frame_Shift_Del	DEL	ENST00000454366.1	37	c.2101delA	CCDS14074.2																																																																																				0.517	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		23	59	23	59	---	---	---	---
