#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	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ACTRT2	140625	broad.mit.edu	37	1	2939112	2939112	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:2939112G>A	ENST00000378404.2	+	1	1067	c.862G>A	c.(862-864)Gat>Aat	p.D288N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	288						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CACCAAGTGTGATACCGACAT	0.632																																						uc001ajz.2		NA																	0					0						c.(862-864)GAT>AAT		actin-related protein M2							65.0	74.0	71.0					1																	2939112		2203	4298	6501	SO:0001583	missense	140625					cytoplasm|cytoskeleton		g.chr1:2939112G>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.862G>A	1.37:g.2939112G>A	ENSP00000367658:p.Asp288Asn						p.D288N	NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1067	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	288					B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	c.862G>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949593	0.53186	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	T	0.09630	2.96	4.68	3.76	0.43208	.	0.369020	0.22672	N	0.057041	T	0.19765	0.0475	M	0.82323	2.585	0.49130	D	0.99975	B	0.29716	0.255	B	0.36092	0.217	T	0.04386	-1.0955	10	0.87932	D	0	.	10.9453	0.47297	0.093:0.0:0.907:0.0	.	288	Q8TDY3	ACTT2_HUMAN	N	288	ENSP00000367658:D288N	ENSP00000367658:D288N	D	+	1	0	ACTRT2	2928972	1.000000	0.71417	0.899000	0.35326	0.250000	0.25880	5.609000	0.67661	2.144000	0.66660	0.561000	0.74099	GAT		0.632	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		29	98	0	0	0	0	29	98				
CAMTA1	23261	broad.mit.edu	37	1	7737775	7737775	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:7737775G>T	ENST00000303635.7	+	11	3103	c.2896G>T	c.(2896-2898)Gac>Tac	p.D966Y	CAMTA1_ENST00000439411.2_Missense_Mutation_p.D966Y	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	966					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTCCCAGCACGACTGGCTGTC	0.557			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NA		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(2896-2898)GAC>TAC		calmodulin-binding transcription activator 1							88.0	79.0	82.0					1																	7737775		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7737775G>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.2896G>T	1.37:g.7737775G>T	ENSP00000306522:p.Asp966Tyr					CAMTA1_uc010nzv.1_Missense_Mutation_p.D53Y|CAMTA1_uc001aok.3_5'Flank	p.D966Y	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	11	3103	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	966					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.2896G>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.563405	0.86335	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738	T;T	0.27402	1.69;1.67	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.55392	-0.8148	10	0.59425	D	0.04	-26.5171	18.5301	0.90989	0.0:0.0:1.0:0.0	.	966;966	Q9Y6Y1-2;Q9Y6Y1	.;CMTA1_HUMAN	Y	966;966;53	ENSP00000306522:D966Y;ENSP00000402561:D966Y	ENSP00000306522:D966Y	D	+	1	0	CAMTA1	7660362	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.807000	0.99171	2.382000	0.81193	0.555000	0.69702	GAC		0.557	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		21	52	1	0	2.32e-17	5.06e-17	21	52				
PRAMEF2	65122	broad.mit.edu	37	1	12921146	12921146	+	Missense_Mutation	SNP	C	C	A	rs373974495		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:12921146C>A	ENST00000240189.2	+	4	1024	c.937C>A	c.(937-939)Ctc>Atc	p.L313I		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	313					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGAAGTGTCTCTCCCAGTT	0.493																																						uc001aum.1		NA																	0					0						c.(937-939)CTC>ATC		PRAME family member 2							138.0	141.0	140.0					1																	12921146		2202	4297	6499	SO:0001583	missense	65122							g.chr1:12921146C>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.937C>A	1.37:g.12921146C>A	ENSP00000240189:p.Leu313Ile						p.L313I	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1024	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	313						Missense_Mutation	SNP	ENST00000240189.2	37	c.937C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442231	0.25987	.	.	ENSG00000120952	ENST00000240189	T	0.01313	5.02	0.824	-0.325	0.12702	.	0.000000	0.64402	D	0.000013	T	0.05593	0.0147	M	0.83312	2.635	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.22034	-1.0228	10	0.66056	D	0.02	.	2.8894	0.05671	0.0:0.5607:0.0:0.4393	.	313	O60811	PRAM2_HUMAN	I	313	ENSP00000240189:L313I	ENSP00000240189:L313I	L	+	1	0	PRAMEF2	12843733	0.016000	0.18221	0.011000	0.14972	0.091000	0.18340	-0.142000	0.10311	-0.121000	0.11787	0.173000	0.16961	CTC		0.493	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		42	175	1	0	2.48e-24	5.54e-24	42	175				
RSRP1	57035	broad.mit.edu	37	1	25573429	25573429	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:25573429C>A	ENST00000243189.7	-	2	302	c.26G>T	c.(25-27)tGg>tTg	p.W9L	C1orf63_ENST00000417642.2_Missense_Mutation_p.W2L|RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000431849.2_Missense_Mutation_p.W9L	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		9										breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGCCCGGCCACATGTCGTT	0.607																																						uc001bjw.2		NA																	0				pancreas(1)	1						c.(25-27)TGG>TTG		hypothetical protein LOC57035							38.0	41.0	40.0					1																	25573429		2180	4258	6438	SO:0001583	missense	57035							g.chr1:25573429C>A																												ENST00000243189.7:c.26G>T	1.37:g.25573429C>A	ENSP00000243189:p.Trp9Leu						p.W9L	NM_020317	NP_064713	Q9BUV0	CA063_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	2	278	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	9					A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	ENST00000243189.7	37	c.26G>T	CCDS260.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.764066	0.49574	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849;ENST00000511740	T;T;T	0.45276	1.51;1.1;0.9	4.78	4.78	0.61160	.	0.000000	0.38663	N	0.001616	T	0.51941	0.1704	L	0.57536	1.79	0.27644	N	0.947636	D	0.54207	0.965	P	0.55785	0.784	T	0.50955	-0.8766	10	0.87932	D	0	-27.7935	11.0843	0.48078	0.0:0.8128:0.1872:0.0	.	9	Q9BUV0	CA063_HUMAN	L	9;2;9;9	ENSP00000243189:W9L;ENSP00000411631:W2L;ENSP00000391510:W9L	ENSP00000243189:W9L	W	-	2	0	C1orf63	25446016	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	0.902000	0.28459	2.471000	0.83476	0.561000	0.74099	TGG		0.607	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101966.2			22	89	1	0	8.25e-16	1.78e-15	22	89				
MPL	4352	broad.mit.edu	37	1	43803901	43803901	+	Splice_Site	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43803901C>A	ENST00000372470.3	+	2	253	c.211C>A	c.(211-213)Cgg>Agg	p.R71R	MPL_ENST00000413998.2_Splice_Site_p.R71R	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	71					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.R71W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TGCCTACCCGCGGTAGGTGCT	0.577			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NA	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		1	Substitution - Missense(1)	p.R71W(1)	upper_aerodigestive_tract(1)	haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(211-213)CGG>AGG		myeloproliferative leukemia virus oncogene							73.0	70.0	71.0					1																	43803901		2203	4300	6503	SO:0001630	splice_region_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43803901C>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.212+1C>A	1.37:g.43803901C>A						MPL_uc001civ.2_Silent_p.R71R|MPL_uc009vwr.2_Silent_p.R64R	p.R71R	NM_005373	NP_005364	P40238	TPOR_HUMAN			2	256	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	71			Extracellular (Potential).		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.211C>A	CCDS483.1																																																																																				0.577	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	Silent	7	36	1	0	0.00448238	0.00718613	7	36				
SZT2	23334	broad.mit.edu	37	1	43903291	43903291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:43903291C>T	ENST00000562955.1	+	44	6145	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	SZT2_ENST00000372442.1_Missense_Mutation_p.R1207W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2106					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGCAGTGACCGGCCATGGAA	0.577																																						uc001cjk.1		NA																	0					0						c.(3619-3621)CGG>TGG		hypothetical protein LOC23334							42.0	38.0	40.0					1																	43903291		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43903291C>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.6145C>T	1.37:g.43903291C>T	ENSP00000457168:p.Arg2049Trp						p.R1207W	NM_015284	NP_056099	Q5T011	SZT2_HUMAN			30	4081	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	2106					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3619C>T	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504937	0.44558	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.64	4.67	0.58626	.	0.211679	0.38720	N	0.001597	T	0.29783	0.0744	N	0.08118	0	0.22199	N	0.999299	D	0.71674	0.998	P	0.53861	0.736	T	0.13019	-1.0525	9	0.72032	D	0.01	.	11.2314	0.48914	0.4015:0.5985:0.0:0.0	.	2049	Q5T011-5	.	W	1207	.	ENSP00000361519:R1207W	R	+	1	2	SZT2	43675878	0.961000	0.32948	0.998000	0.56505	0.499000	0.33736	1.935000	0.40173	2.652000	0.90054	0.563000	0.77884	CGG		0.577	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		13	41	0	0	0	0	13	41				
RNF11	26994	broad.mit.edu	37	1	51735628	51735628	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:51735628G>C	ENST00000242719.3	+	2	610	c.124G>C	c.(124-126)Gaa>Caa	p.E42Q	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	42					protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		large_intestine(1)	1						AATATTTTAGGAACAAGTTCC	0.413																																						uc001csi.3		NA																	2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)		0						c.(124-126)GAA>CAA		ring finger protein 11							33.0	34.0	34.0					1																	51735628		2203	4300	6503	SO:0001630	splice_region_variant	26994				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	g.chr1:51735628G>C	AB024703	CCDS556.1	1p32	2013-01-09			ENSG00000123091	ENSG00000123091		"""RING-type (C3HC4) zinc fingers"""	10056	protein-coding gene	gene with protein product		612598				10673045, 10810093	Standard	NM_014372		Approved	CGI-123, Sid1669p, MGC51169	uc001csi.4	Q9Y3C5	OTTHUMG00000008190	ENST00000242719.3:c.124-1G>C	1.37:g.51735628G>C							p.E42Q	NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN			2	608	+			42					A8KAI2|Q5T7R8	Missense_Mutation	SNP	ENST00000242719.3	37	c.124G>C	CCDS556.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108667	0.56291	.	.	ENSG00000123091	ENST00000242719	T	0.18502	2.21	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.38531	1.155	0.80722	D	1	B	0.18863	0.031	B	0.14023	0.01	T	0.07139	-1.0788	10	0.20519	T	0.43	-2.7965	20.3206	0.98668	0.0:0.0:1.0:0.0	.	42	Q9Y3C5	RNF11_HUMAN	Q	42	ENSP00000242719:E42Q	ENSP00000242719:E42Q	E	+	1	0	RNF11	51508216	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.376000	0.97181	2.809000	0.96659	0.655000	0.94253	GAA		0.413	RNF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022419.1	NM_014372	Missense_Mutation	7	33	0	0	0	0	7	33				
TMEM61	199964	broad.mit.edu	37	1	55451924	55451924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:55451924C>T	ENST00000371268.3	+	2	444	c.170C>T	c.(169-171)cCg>cTg	p.P57L	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	57						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ACGGAGTATCCGGTGCCTGAG	0.682																																						uc001cyd.2		NA																	0					0						c.(169-171)CCG>CTG		transmembrane protein 61							48.0	50.0	49.0					1																	55451924		2203	4299	6502	SO:0001583	missense	199964					integral to membrane		g.chr1:55451924C>T	BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.170C>T	1.37:g.55451924C>T	ENSP00000360315:p.Pro57Leu						p.P57L	NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN			2	444	+			57						Missense_Mutation	SNP	ENST00000371268.3	37	c.170C>T	CCDS601.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828479	0.32329	.	.	ENSG00000143001	ENST00000371268	T	0.60797	0.16	4.8	3.86	0.44501	.	0.264987	0.26967	N	0.021595	T	0.61999	0.2392	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.65874	0.939	T	0.55528	-0.8127	10	0.72032	D	0.01	-9.2609	11.9064	0.52715	0.0:0.824:0.176:0.0	.	57	Q8N0U2	TMM61_HUMAN	L	57	ENSP00000360315:P57L	ENSP00000360315:P57L	P	+	2	0	TMEM61	55224512	0.008000	0.16893	0.024000	0.17045	0.001000	0.01503	0.535000	0.23114	1.189000	0.43028	0.655000	0.94253	CCG		0.682	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532		27	79	0	0	0	0	27	79				
GBP1	2633	broad.mit.edu	37	1	89523674	89523674	+	Splice_Site	SNP	C	C	A	rs139189718	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:89523674C>A	ENST00000370473.4	-	6	1094		c.e6+1		GBP1_ENST00000484970.1_5'Flank	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible						cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.?(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGGGGACTTACGAGGCCCGTT	0.423																																						uc001dmx.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|skin(1)	2						c.e6+1		guanylate binding protein 1,							92.0	95.0	94.0					1																	89523674		2203	4300	6503	SO:0001630	splice_region_variant	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89523674C>A	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.874+1G>T	1.37:g.89523674C>A							p.R292_splice	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	6	1094	-		Lung NSC(277;0.123)						D3DT26|Q5T8M1	Splice_Site	SNP	ENST00000370473.4	37	c.874_splice	CCDS718.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117588	0.37339	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6463	0.56735	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GBP1	89296262	0.997000	0.39634	0.997000	0.53966	0.424000	0.31475	3.976000	0.56867	2.029000	0.59856	0.313000	0.20887	.		0.423	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053	Intron	28	63	1	0	3.65e-15	7.82e-15	28	63				
DBT	1629	broad.mit.edu	37	1	100701061	100701061	+	Missense_Mutation	SNP	C	C	A	rs199954954		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:100701061C>A	ENST00000370132.4	-	3	195	c.182G>T	c.(181-183)cGt>cTt	p.R61L	DBT_ENST00000370131.3_Missense_Mutation_p.R61L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	61					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AACCTGTCCACGGAGAGCTTC	0.333																																						uc001dta.2		NA																	0				pancreas(1)	1						c.(181-183)CGT>CTT		dihydrolipoamide branched chain transacylase							69.0	69.0	69.0					1																	100701061		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100701061C>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.182G>T	1.37:g.100701061C>A	ENSP00000359151:p.Arg61Leu					DBT_uc010oug.1_5'UTR	p.R61L	NM_001918	NP_001909	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	3	215	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	61					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.182G>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	C	1.912	-0.450548	0.04572	.	.	ENSG00000137992	ENST00000370132;ENST00000370131	T;T	0.31247	1.5;1.5	5.43	-1.34	0.09143	Single hybrid motif (1);	1.440770	0.03481	N	0.215147	T	0.04363	0.0120	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32798	-0.9893	10	0.10902	T	0.67	2.9912	13.1355	0.59407	0.0:0.4859:0.0:0.5141	.	61	P11182	ODB2_HUMAN	L	61	ENSP00000359151:R61L;ENSP00000359150:R61L	ENSP00000359150:R61L	R	-	2	0	DBT	100473649	0.000000	0.05858	0.008000	0.14137	0.667000	0.39255	-0.702000	0.05069	-0.156000	0.11079	-0.355000	0.07637	CGT		0.333	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	NM_001918		9	22	1	0	5.49e-09	1.08e-08	9	22				
WDR77	79084	broad.mit.edu	37	1	111991351	111991351	+	Missense_Mutation	SNP	G	G	A	rs374674543		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:111991351G>A	ENST00000235090.5	-	2	397	c.191C>T	c.(190-192)cCc>cTc	p.P64L	WDR77_ENST00000497278.1_5'Flank|Y_RNA_ENST00000363020.1_RNA|ATP5F1_ENST00000369722.3_5'Flank|ATP5F1_ENST00000483994.1_5'Flank|WDR77_ENST00000411751.2_Missense_Mutation_p.P64L	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	64					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCGGCACAGGGGTCCTTAAA	0.652																																						uc001ebb.2		NA																	0					0						c.(190-192)CCC>CTC		WD repeat domain 77		G	LEU/PRO	2,4400		0,2,2199	18.0	20.0	19.0		191	5.7	1.0	1		19	0,8580		0,0,4290	no	missense	WDR77	NM_024102.2	98	0,2,6489	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	64/343	111991351	2,12980	2201	4290	6491	SO:0001583	missense	79084				ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr1:111991351G>A	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.191C>T	1.37:g.111991351G>A	ENSP00000235090:p.Pro64Leu					WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Missense_Mutation_p.P64L|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank	p.P64L	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	230	-		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	64					B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	Missense_Mutation	SNP	ENST00000235090.5	37	c.191C>T	CCDS835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.583328|5.583328	0.96578|0.96578	4.54E-4|4.54E-4	0.0|0.0	ENSG00000116455|ENSG00000116455	ENST00000235090;ENST00000411751|ENST00000449340	T;T|.	0.68331|.	-0.01;-0.32|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.72415|0.72415	0.3457|0.3457	M|M	0.74258|0.74258	2.255|2.255	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.996|.	D;D|.	0.65684|.	0.937;0.913|.	T|T	0.70475|0.70475	-0.4861|-0.4861	10|6	0.26408|.	T|.	0.33|.	-20.5872|-20.5872	19.5009|19.5009	0.95093|0.95093	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	64;64|.	B4DP38;Q9BQA1|.	.;MEP50_HUMAN|.	L|S	64|1	ENSP00000235090:P64L;ENSP00000400321:P64L|.	ENSP00000235090:P64L|.	P|P	-|-	2|1	0|0	WDR77|WDR77	111792874|111792874	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.978000|0.978000	0.69477|0.69477	9.357000|9.357000	0.97099|0.97099	2.716000|2.716000	0.92895|0.92895	0.561000|0.561000	0.74099|0.74099	CCC|CCT		0.652	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032465.1	NM_024102		3	11	0	0	0	0	3	11				
PDE4DIP	9659	broad.mit.edu	37	1	145039590	145039590	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:145039590C>G	ENST00000493130.2	-	1	181	c.20G>C	c.(19-21)aGa>aCa	p.R7T	PDE4DIP_ENST00000313382.9_Splice_Site_p.R7T|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000478649.2_Splice_Site_p.R7T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCCCACCTACCTCGTCCAGGT	0.627			T	PDGFRB	MPD																																	uc001elx.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(19-21)AGA>ACA		phosphodiesterase 4D interacting protein isoform							80.0	81.0	81.0					1																	145039590		876	1991	2867	SO:0001630	splice_region_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145039590C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000493130.2:c.20+1G>C	1.37:g.145039590C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.R7T|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001emh.2_Intron	p.R7T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	355	-			Error:Variant_position_missing_in_Q5VU43_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000493130.2	37	c.20G>C		.	.	.	.	.	.	.	.	.	.	C	16.60	3.168550	0.57584	.	.	ENSG00000178104	ENST00000313382;ENST00000532801;ENST00000530078;ENST00000493130;ENST00000478649	T;T	0.58210	4.04;0.35	4.81	4.81	0.61882	.	.	.	.	.	T	0.49270	0.1547	L	0.29908	0.895	0.80722	D	1	D;D	0.61080	0.989;0.981	D;D	0.72625	0.978;0.966	T	0.44682	-0.9312	8	.	.	.	.	13.2563	0.60081	0.0:1.0:0.0:0.0	.	7;7	Q5VU43-3;E9PQH9	.;.	T	7	ENSP00000327209:R7T;ENSP00000436751:R7T	.	R	-	2	0	PDE4DIP	143750947	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	3.413000	0.52686	2.493000	0.84123	0.555000	0.69702	AGA		0.627	PDE4DIP-027	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000099618.2	NM_022359	Missense_Mutation	3	53	0	0	0	0	3	53				
TUFT1	7286	broad.mit.edu	37	1	151553494	151553494	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:151553494G>A	ENST00000368849.3	+	12	1147	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	TUFT1_ENST00000368848.2_Missense_Mutation_p.R337Q|TUFT1_ENST00000392712.3_Missense_Mutation_p.R307Q|TUFT1_ENST00000538902.1_Missense_Mutation_p.R381Q|TUFT1_ENST00000353024.3_Missense_Mutation_p.R303Q	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	362					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCAGGCCCGGGCCAAGACA	0.522																																						uc001eyl.2		NA																	0					0						c.(1084-1086)CGG>CAG		tuftelin 1 isoform 1							58.0	59.0	59.0					1																	151553494		2203	4300	6503	SO:0001583	missense	7286				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel	g.chr1:151553494G>A	AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.1085G>A	1.37:g.151553494G>A	ENSP00000357842:p.Arg362Gln					TUFT1_uc001eym.2_Missense_Mutation_p.R337Q|TUFT1_uc010pdf.1_Missense_Mutation_p.R381Q|TUFT1_uc010pdg.1_Missense_Mutation_p.R310Q	p.R362Q	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		12	1147	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		362					B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	ENST00000368849.3	37	c.1085G>A	CCDS1000.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651123	0.47362	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902	T;T;T;T;T	0.18502	2.24;2.26;2.25;2.25;2.21	4.96	3.08	0.35506	.	0.721442	0.13525	N	0.381367	T	0.02970	0.0088	L	0.40543	1.245	0.24809	N	0.992653	B;B;B	0.33238	0.403;0.267;0.139	B;B;B	0.19148	0.024;0.016;0.016	T	0.41179	-0.9523	10	0.10902	T	0.67	-0.5217	7.3747	0.26821	0.197:0.0:0.803:0.0	.	381;337;362	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	Q	362;307;303;337;381	ENSP00000357842:R362Q;ENSP00000376476:R307Q;ENSP00000343781:R303Q;ENSP00000357841:R337Q;ENSP00000437997:R381Q	ENSP00000343781:R303Q	R	+	2	0	TUFT1	149820118	0.038000	0.19896	0.935000	0.37517	0.992000	0.81027	1.375000	0.34295	0.676000	0.31285	0.655000	0.94253	CGG		0.522	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035022.1	NM_020127		16	48	0	0	0	0	16	48				
FCRL5	83416	broad.mit.edu	37	1	157514694	157514694	+	Silent	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:157514694A>C	ENST00000361835.3	-	4	643	c.486T>G	c.(484-486)ggT>ggG	p.G162G	FCRL5_ENST00000368189.3_Silent_p.G162G|FCRL5_ENST00000368190.3_Silent_p.G162G|FCRL5_ENST00000368191.3_Silent_p.G77G|FCRL5_ENST00000356953.4_Silent_p.G162G	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	162					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGCGATATGCACCATTGTCCT	0.363																																						uc001fqu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)	6						c.(484-486)GGT>GGG		Fc receptor-like 5							157.0	146.0	150.0					1																	157514694		2203	4300	6503	SO:0001819	synonymous_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514694A>C	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.486T>G	1.37:g.157514694A>C						FCRL5_uc009wsm.2_Silent_p.G162G|FCRL5_uc010phv.1_Silent_p.G162G|FCRL5_uc010phw.1_Silent_p.G77G|FCRL5_uc001fqv.1_Silent_p.G162G|FCRL5_uc010phx.1_5'UTR	p.G162G	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			4	644	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	162			Extracellular (Potential).		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Silent	SNP	ENST00000361835.3	37	c.486T>G	CCDS1165.1																																																																																				0.363	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		13	98	0	0	0	0	13	98				
ILDR2	387597	broad.mit.edu	37	1	166904662	166904662	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166904662A>T	ENST00000271417.3	-	6	811	c.756T>A	c.(754-756)ggT>ggA	p.G252G	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000469934.2_Silent_p.G252G|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529071.1_Silent_p.G233G|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	252					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCCGGGGACACCGGAGACAG	0.602																																						uc001gdx.1		NA																	0				ovary(1)	1						c.(754-756)GGT>GGA		immunoglobulin-like domain containing receptor							57.0	55.0	56.0					1																	166904662		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166904662A>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.756T>A	1.37:g.166904662A>T							p.G252G	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			6	812	-			252			Cytoplasmic (Potential).			Silent	SNP	ENST00000271417.3	37	c.756T>A	CCDS1256.1																																																																																				0.602	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		15	39	0	0	0	0	15	39				
MAEL	84944	broad.mit.edu	37	1	166961962	166961962	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:166961962G>T	ENST00000367872.4	+	4	609	c.365G>T	c.(364-366)aGc>aTc	p.S122I	MAEL_ENST00000367870.2_Missense_Mutation_p.S91I|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	122					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AACATTTTTAGCCATGGCGAG	0.363																																						uc001gdy.1		NA																	0				skin(1)	1						c.(364-366)AGC>ATC		maelstrom homolog							74.0	74.0	74.0					1																	166961962		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166961962G>T	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.365G>T	1.37:g.166961962G>T	ENSP00000356846:p.Ser122Ile					MAEL_uc001gdz.1_Missense_Mutation_p.S91I|MAEL_uc009wvf.1_RNA	p.S122I	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			4	436	+			122					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.365G>T	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219717	0.79464	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.56941	0.75;0.43;0.53	5.51	5.51	0.81932	Domain of unknown function DUF1898 (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	L	0.32530	0.975	0.53688	D	0.999978	D;D	0.76494	0.999;0.999	D;D	0.85130	0.996;0.997	T	0.62595	-0.6821	10	0.87932	D	0	.	18.2049	0.89851	0.0:0.0:1.0:0.0	.	91;122	E9JVC3;Q96JY0	.;MAEL_HUMAN	I	122;91;91	ENSP00000356846:S122I;ENSP00000356844:S91I;ENSP00000402143:S91I	ENSP00000356844:S91I	S	+	2	0	MAEL	165228586	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.561000	0.73955	2.591000	0.87537	0.313000	0.20887	AGC		0.363	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		34	35	1	0	3.63e-18	7.9e-18	34	35				
DUSP27	92235	broad.mit.edu	37	1	167097477	167097477	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:167097477C>T	ENST00000361200.2	+	6	3275	c.3109C>T	c.(3109-3111)Cca>Tca	p.P1037S	DUSP27_ENST00000271385.5_Missense_Mutation_p.P1037S|DUSP27_ENST00000443333.1_Missense_Mutation_p.P1037S|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1037					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAGGAGAGCCCAGAGCCCTA	0.587																																						uc001geb.1		NA																	0				ovary(3)	3						c.(3109-3111)CCA>TCA		dual specificity phosphatase 27							36.0	40.0	39.0					1																	167097477		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097477C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3109C>T	1.37:g.167097477C>T	ENSP00000354483:p.Pro1037Ser						p.P1037S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3109	+			1037					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3109C>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766633	0.69878	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03663	3.85;3.85;3.85	5.42	5.42	0.78866	.	0.000000	0.50627	D	0.000120	T	0.12433	0.0302	M	0.65975	2.015	0.44956	D	0.997975	D	0.89917	1.0	D	0.83275	0.996	T	0.01152	-1.1435	10	0.87932	D	0	-14.3953	19.2273	0.93822	0.0:1.0:0.0:0.0	.	1037	Q5VZP5	DUS27_HUMAN	S	1037	ENSP00000354483:P1037S;ENSP00000271385:P1037S;ENSP00000404874:P1037S	ENSP00000271385:P1037S	P	+	1	0	DUSP27	165364101	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	3.548000	0.53670	2.530000	0.85305	0.643000	0.83706	CCA		0.587	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		19	23	0	0	0	0	19	23				
TNR	7143	broad.mit.edu	37	1	175325503	175325503	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:175325503T>C	ENST00000367674.2	-	16	3778	c.3070A>G	c.(3070-3072)Acc>Gcc	p.T1024A	TNR_ENST00000263525.2_Missense_Mutation_p.T1024A			Q92752	TENR_HUMAN	tenascin R	1024	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCCATTGGTGGCATACATG	0.507																																						uc001gkp.1		NA																	0				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3070-3072)ACC>GCC		tenascin R precursor							244.0	204.0	218.0					1																	175325503		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175325503T>C	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3070A>G	1.37:g.175325503T>C	ENSP00000356646:p.Thr1024Ala					TNR_uc009wwu.1_Missense_Mutation_p.T1024A	p.T1024A	NM_003285	NP_003276	Q92752	TENR_HUMAN			14	3151	-	Renal(580;0.146)		1024			Fibronectin type-III 8.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3070A>G	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.555849	0.27827	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56275	0.47;0.47	5.77	-0.66	0.11421	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.112556	0.64402	N	0.000012	T	0.34745	0.0908	L	0.35288	1.05	0.45354	D	0.998346	B	0.06786	0.001	B	0.15052	0.012	T	0.12656	-1.0539	10	0.15066	T	0.55	.	10.42	0.44344	0.0:0.3117:0.0:0.6883	.	1024	Q92752	TENR_HUMAN	A	1024;1024;934	ENSP00000356646:T1024A;ENSP00000263525:T1024A	ENSP00000263525:T1024A	T	-	1	0	TNR	173592126	1.000000	0.71417	0.975000	0.42487	0.970000	0.65996	1.643000	0.37217	-0.364000	0.08088	0.533000	0.62120	ACC		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		11	75	0	0	0	0	11	75				
PAPPA2	60676	broad.mit.edu	37	1	176640251	176640251	+	Splice_Site	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:176640251G>A	ENST00000367662.3	+	4	3301	c.2137G>A	c.(2137-2139)Ggt>Agt	p.G713S	PAPPA2_ENST00000367661.3_Splice_Site_p.G713S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	713	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACTCACCTGGGTAAGTGAAA	0.468																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2137-2139)GGT>AGT		pappalysin 2 isoform 1							68.0	66.0	66.0					1																	176640251		1943	4141	6084	SO:0001630	splice_region_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176640251G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2137+1G>A	1.37:g.176640251G>A						PAPPA2_uc001gky.1_Missense_Mutation_p.G713S|PAPPA2_uc009www.2_RNA	p.G713S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			4	3301	+			713			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.2137G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.874912	0.91664	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	D;T	0.84660	-1.88;1.06	5.4	5.4	0.78164	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92831	0.7720	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93255	0.6638	10	0.62326	D	0.03	-18.0968	18.7796	0.91926	0.0:0.0:1.0:0.0	.	713;713	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	S	713	ENSP00000356634:G713S;ENSP00000356633:G713S	ENSP00000356633:G713S	G	+	1	0	PAPPA2	174906874	1.000000	0.71417	0.998000	0.56505	0.442000	0.32017	9.644000	0.98468	2.509000	0.84616	0.655000	0.94253	GGT		0.468	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		Missense_Mutation	27	71	0	0	0	0	27	71				
KIAA1614	57710	broad.mit.edu	37	1	180885313	180885313	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:180885313C>G	ENST00000367588.4	+	2	129	c.74C>G	c.(73-75)aCa>aGa	p.T25R		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGGAGTGGAACAGCCAGCCCC	0.617																																						uc001gok.2		NA																	0				ovary(3)|skin(1)	4						c.(73-75)ACA>AGA		hypothetical protein LOC57710							23.0	27.0	25.0					1																	180885313		1912	4119	6031	SO:0001583	missense	57710							g.chr1:180885313C>G	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.74C>G	1.37:g.180885313C>G	ENSP00000356560:p.Thr25Arg						p.T25R	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			2	141	+			25					Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.74C>G	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	C	0.437	-0.900493	0.02472	.	.	ENSG00000135835	ENST00000367588	T	0.15718	2.4	4.99	-5.06	0.02946	.	0.899780	0.09209	N	0.833535	T	0.07999	0.0200	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34800	-0.9814	10	0.28530	T	0.3	-0.0027	2.4134	0.04430	0.1751:0.2997:0.3341:0.1911	.	25	Q5VZ46	K1614_HUMAN	R	25	ENSP00000356560:T25R	ENSP00000356560:T25R	T	+	2	0	KIAA1614	179151936	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.237000	0.02922	-1.341000	0.02225	-2.374000	0.00234	ACA		0.617	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		3	41	0	0	0	0	3	41				
CFH	3075	broad.mit.edu	37	1	196712681	196712681	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:196712681G>T	ENST00000367429.4	+	20	3473	c.3233G>T	c.(3232-3234)aGg>aTg	p.R1078M		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1078	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> S (associated with basal laminar drusen). {ECO:0000269|PubMed:18252232}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATCAATGTAGGAGCCCTTAT	0.398																																						uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(3232-3234)AGG>ATG		complement factor H isoform a precursor							241.0	231.0	234.0					1																	196712681		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196712681G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3233G>T	1.37:g.196712681G>T	ENSP00000356399:p.Arg1078Met						p.R1078M	NM_000186	NP_000177	P08603	CFAH_HUMAN			20	3473	+			1078		R -> S (associated with basal laminar drusen).	Sushi 18.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3233G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	14.29	2.492499	0.44352	.	.	ENSG00000000971	ENST00000367429	T	0.64991	-0.13	4.96	-4.94	0.03057	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.41119	0.1145	L	0.39147	1.195	0.09310	N	0.999999	B	0.33512	0.415	B	0.31869	0.137	T	0.33854	-0.9852	9	0.40728	T	0.16	.	0.173	0.00115	0.3365:0.23:0.166:0.2675	.	1078	P08603	CFAH_HUMAN	M	1078	ENSP00000356399:R1078M	ENSP00000356399:R1078M	R	+	2	0	CFH	194979304	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.922000	0.04004	-0.624000	0.05611	-0.391000	0.06502	AGG		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		19	72	1	0	2.94e-08	5.75e-08	19	72				
CRB1	23418	broad.mit.edu	37	1	197396759	197396759	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:197396759G>A	ENST00000367400.3	+	7	2439	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E	CRB1_ENST00000367397.1_Silent_p.E149E|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Silent_p.E249E|CRB1_ENST00000367399.2_Silent_p.E656E|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.E699E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	768	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTGGCTAGAGCGCGGCAGAC	0.418																																						uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(2302-2304)GAG>GAA		crumbs homolog 1 precursor							55.0	53.0	53.0					1																	197396759		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197396759G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2304G>A	1.37:g.197396759G>A						CRB1_uc010poz.1_Silent_p.E699E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.E656E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.E249E|CRB1_uc001gub.1_Silent_p.E417E	p.E768E	NM_201253	NP_957705	P82279	CRUM1_HUMAN			7	2439	+			768			Extracellular (Potential).|Laminin G-like 2.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.2304G>A	CCDS1390.1																																																																																				0.418	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		20	19	0	0	0	0	20	19				
OPTC	26254	broad.mit.edu	37	1	203472812	203472812	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:203472812C>T	ENST00000367222.2	+	7	1079	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	321					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCGCCTACTTCTGCCTGCCTC	0.632																																						uc001gzu.1		NA																	0					0						c.(961-963)TTC>TTT		opticin precursor							84.0	79.0	81.0					1																	203472812		2203	4300	6503	SO:0001819	synonymous_variant	26254					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:203472812C>T	AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.963C>T	1.37:g.203472812C>T							p.F321F	NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		7	1079	+			321					Q5T2G4	Silent	SNP	ENST00000367222.2	37	c.963C>T	CCDS1439.1																																																																																				0.632	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1	NM_014359		31	62	0	0	0	0	31	62				
PROX1	5629	broad.mit.edu	37	1	214171294	214171294	+	Silent	SNP	C	C	A	rs367596069		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:214171294C>A	ENST00000366958.4	+	2	2024	c.1416C>A	c.(1414-1416)acC>acA	p.T472T	PROX1_ENST00000435016.1_Silent_p.T472T|PROX1_ENST00000498508.2_Silent_p.T472T|PROX1_ENST00000261454.4_Silent_p.T472T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	472					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTCTGCCACCACGGGCTTCA	0.647																																						uc001hkh.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1414-1416)ACC>ACA		prospero homeobox 1							77.0	91.0	86.0					1																	214171294		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171294C>A	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1416C>A	1.37:g.214171294C>A						PROX1_uc001hkg.1_Silent_p.T472T	p.T472T	NM_002763	NP_002754	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1688	+			472					A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1416C>A	CCDS31021.1																																																																																				0.647	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		59	65	1	0	9.77e-20	2.15e-19	59	65				
USH2A	7399	broad.mit.edu	37	1	216591996	216591996	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:216591996C>T	ENST00000307340.3	-	3	897	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	USH2A_ENST00000366943.2_Missense_Mutation_p.G171R|USH2A_ENST00000366942.3_Missense_Mutation_p.G171R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	171					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAATCTGCCCATCTACTGTC	0.388										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(511-513)GGG>AGG		usherin isoform B							130.0	121.0	124.0					1																	216591996		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216591996C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.511G>A	1.37:g.216591996C>T	ENSP00000305941:p.Gly171Arg	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.G171R	p.G171R	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	3	898	-			171			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.511G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793742	0.70452	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.76578	-1.03;-1.03;-1.03	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.43416	U	0.000573	D	0.88097	0.6345	M	0.69823	2.125	0.47778	D	0.99951	D;D	0.89917	0.994;1.0	P;D	0.97110	0.822;1.0	D	0.87969	0.2735	10	0.56958	D	0.05	.	19.6478	0.95789	0.0:1.0:0.0:0.0	.	171;171	O75445-2;O75445	.;USH2A_HUMAN	R	171	ENSP00000305941:G171R;ENSP00000355910:G171R;ENSP00000355909:G171R	ENSP00000305941:G171R	G	-	1	0	USH2A	214658619	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	5.251000	0.65438	2.638000	0.89438	0.655000	0.94253	GGG		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		7	57	0	0	0	0	7	57				
CEP170	9859	broad.mit.edu	37	1	243362455	243362455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:243362455G>C	ENST00000366542.1	-	7	589	c.538C>G	c.(538-540)Ccg>Gcg	p.P180A	CEP170_ENST00000366543.1_Missense_Mutation_p.P180A|CEP170_ENST00000366544.1_Missense_Mutation_p.P180A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	180						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CACCATGACGGCTGCCCATAT	0.418																																						uc001hzs.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(538-540)CCG>GCG		centrosomal protein 170kDa isoform alpha							53.0	46.0	48.0					1																	243362455		1822	4076	5898	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243362455G>C	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.538C>G	1.37:g.243362455G>C	ENSP00000355500:p.Pro180Ala					CEP170_uc001hzt.2_Missense_Mutation_p.P180A|CEP170_uc001hzu.2_Missense_Mutation_p.P180A	p.P180A	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		7	946	-	all_neural(11;0.101)	all_cancers(173;0.003)	180					O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.538C>G	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.477705|4.477705	0.84640|0.84640	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.37235|.	1.21;1.21;1.21|.	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76449|0.76449	0.3989|0.3989	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.998|.	T|T	0.76854|0.76854	-0.2805|-0.2805	10|5	0.66056|.	D|.	0.02|.	-11.1558|-11.1558	18.4118|18.4118	0.90554|0.90554	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180;180;180|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	A|R	180;180;180;78|81	ENSP00000355500:P180A;ENSP00000355502:P180A;ENSP00000355501:P180A|.	ENSP00000355500:P180A|.	P|S	-|-	1|3	0|2	CEP170|CEP170	241429078|241429078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	9.225000|9.225000	0.95219|0.95219	2.355000|2.355000	0.79922|0.79922	0.455000|0.455000	0.32223|0.32223	CCG|AGC		0.418	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812		12	16	0	0	0	0	12	16				
OR2T1	26696	broad.mit.edu	37	1	248569884	248569884	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr1:248569884G>T	ENST00000366474.1	+	1	589	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATTATAGCAGGTTCCTGGTT	0.542																																						uc010pzm.1		NA																	0				pancreas(1)	1						c.(589-591)GGT>TGT		olfactory receptor, family 2, subfamily T,							97.0	95.0	96.0					1																	248569884		2203	4300	6503	SO:0001583	missense	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569884G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.589G>T	1.37:g.248569884G>T	ENSP00000355430:p.Gly197Cys						p.G197C	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	589	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		197			Helical; Name=4; (Potential).		Q6IEZ9	Missense_Mutation	SNP	ENST00000366474.1	37	c.589G>T	CCDS31115.1	.	.	.	.	.	.	.	.	.	.	g	16.32	3.089594	0.55968	.	.	ENSG00000175143	ENST00000366474	T	0.39056	1.1	4.84	3.92	0.45320	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002091	T	0.59211	0.2177	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.53158	-0.8478	10	0.72032	D	0.01	.	12.4538	0.55691	0.0:0.1691:0.8309:0.0	.	197	O43869	OR2T1_HUMAN	C	197	ENSP00000355430:G197C	ENSP00000355430:G197C	G	+	1	0	OR2T1	246636507	0.000000	0.05858	0.067000	0.19924	0.996000	0.88848	0.261000	0.18442	1.240000	0.43803	0.650000	0.86243	GGT		0.542	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			49	49	1	0	8.05e-23	1.79e-22	49	49				
USP6NL	9712	broad.mit.edu	37	10	11505159	11505159	+	Missense_Mutation	SNP	C	C	T	rs374849121		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:11505159C>T	ENST00000609104.1	-	15	2162	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	USP6NL_ENST00000277575.5_Missense_Mutation_p.A607T|USP6NL_ENST00000379237.2_Missense_Mutation_p.A613T	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	590					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						CTTGGCTCAGCGTGCTTTCTC	0.562																																						uc001ikt.3		NA																	0					0						c.(1768-1770)GCT>ACT		USP6 N-terminal like isoform 1		C	THR/ALA,THR/ALA	0,3900		0,0,1950	54.0	55.0	55.0		1768,1819	-5.3	0.0	10		55	1,8309		0,1,4154	no	missense,missense	USP6NL	NM_014688.2,NM_001080491.2	58,58	0,1,6104	TT,TC,CC		0.012,0.0,0.0082	benign,benign	590/829,607/846	11505159	1,12209	1950	4155	6105	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11505159C>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.1768G>A	10.37:g.11505159C>T	ENSP00000476462:p.Ala590Thr					USP6NL_uc001iks.1_Missense_Mutation_p.A607T	p.A590T	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2089	-			590					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.1768G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047315	0.36085	0.0	1.2E-4	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.04083	3.71;3.72	6.04	-5.31	0.02730	.	1.749110	0.02569	N	0.097590	T	0.03178	0.0093	L	0.34521	1.04	0.09310	N	1	B;B	0.18968	0.019;0.032	B;B	0.10450	0.001;0.005	T	0.41538	-0.9503	10	0.18276	T	0.48	.	0.2277	0.00176	0.31:0.2228:0.2262:0.241	.	590;607	Q92738;Q92738-2	US6NL_HUMAN;.	T	590;607;590	ENSP00000277575:A607T;ENSP00000368539:A590T	ENSP00000277575:A607T	A	-	1	0	USP6NL	11545165	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.781000	0.01774	-0.606000	0.05746	0.563000	0.77884	GCT		0.562	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		18	24	0	0	0	0	18	24				
DCLRE1C	64421	broad.mit.edu	37	10	14976392	14976392	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:14976392T>A	ENST00000378278.2	-	8	702	c.665A>T	c.(664-666)gAa>gTa	p.E222V	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E102V|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E222V|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E107V|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.E102V|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E107V			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	222					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GACTCCTAATTCTTCACTAAG	0.438								Non-homologous end-joining																														uc001inn.2		NA																	0				ovary(1)	1						c.(664-666)GAA>GTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							99.0	115.0	110.0					10																	14976392		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14976392T>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.665A>T	10.37:g.14976392T>A	ENSP00000367527:p.Glu222Val					DCLRE1C_uc010qbx.1_Missense_Mutation_p.E222V|DCLRE1C_uc001inl.2_Missense_Mutation_p.E102V|DCLRE1C_uc009xji.2_Missense_Mutation_p.E107V|DCLRE1C_uc001inm.2_Missense_Mutation_p.E102V|DCLRE1C_uc001ino.2_Missense_Mutation_p.E107V|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.E102V|DCLRE1C_uc001inq.2_Missense_Mutation_p.E102V|DCLRE1C_uc001inr.2_Missense_Mutation_p.E107V|DCLRE1C_uc009xjj.1_RNA	p.E222V	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			8	750	-			222					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.665A>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346629	0.61073	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843	T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.37	5.36	5.36	0.76844	.	0.143577	0.64402	D	0.000009	D	0.85062	0.5611	L	0.51422	1.61	0.50632	D	0.999886	B;D;B	0.59357	0.397;0.985;0.276	B;P;B	0.59546	0.34;0.859;0.184	D	0.85983	0.1484	10	0.54805	T	0.06	.	15.3355	0.74250	0.0:0.0:0.0:1.0	.	222;107;222	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	V	222;102;107;107;107;102;102;102;222;102;76	ENSP00000367538:E222V;ENSP00000400529:E102V;ENSP00000367492:E107V;ENSP00000350349:E107V;ENSP00000367496:E107V;ENSP00000380030:E102V;ENSP00000367503:E102V;ENSP00000367502:E102V;ENSP00000367527:E222V;ENSP00000367506:E102V;ENSP00000391428:E76V	ENSP00000350349:E107V	E	-	2	0	DCLRE1C	15016398	1.000000	0.71417	0.513000	0.27749	0.976000	0.68499	6.221000	0.72243	2.030000	0.59900	0.528000	0.53228	GAA		0.438	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		28	108	0	0	0	0	28	108				
GPR158	57512	broad.mit.edu	37	10	25887011	25887011	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:25887011G>T	ENST00000376351.3	+	11	2815	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	819					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAATCCCACAGCACTTATGAC	0.512																																						uc001isj.2		NA																	0				ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(2455-2457)AGC>ATC		G protein-coupled receptor 158 precursor							114.0	124.0	121.0					10																	25887011		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887011G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2456G>T	10.37:g.25887011G>T	ENSP00000365529:p.Ser819Ile					GPR158_uc001isk.2_Missense_Mutation_p.S194I	p.S819I	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	2516	+			819			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2456G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.200065	0.94997	.	.	ENSG00000151025	ENST00000376351	T	0.73363	-0.74	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.86176	0.5870	M	0.71206	2.165	0.80722	D	1	D	0.64830	0.994	D	0.69307	0.963	D	0.86453	0.1774	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	819	Q5T848	GP158_HUMAN	I	819	ENSP00000365529:S819I	ENSP00000365529:S819I	S	+	2	0	GPR158	25927017	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.247000	0.78257	2.779000	0.95612	0.650000	0.86243	AGC		0.512	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		22	135	1	0	2.08e-23	4.64e-23	22	135				
APBB1IP	54518	broad.mit.edu	37	10	26802519	26802519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:26802519C>G	ENST00000376236.4	+	8	1198	c.743C>G	c.(742-744)aCa>aGa	p.T248R		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	248	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCAGACTGGACAAGAGACACA	0.343																																						uc001iss.2		NA																	0				lung(4)|skin(2)|central_nervous_system(1)	7						c.(742-744)ACA>AGA		amyloid beta (A4) precursor protein-binding,							72.0	78.0	76.0					10																	26802519		2203	4298	6501	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26802519C>G	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.743C>G	10.37:g.26802519C>G	ENSP00000365411:p.Thr248Arg					APBB1IP_uc009xks.1_Missense_Mutation_p.T248R	p.T248R	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN			8	1064	+			248			Ras-associating.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.743C>G	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709637	0.89018	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.75704	-0.96	5.87	5.87	0.94306	Ras-association (3);	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.79784	0.985;0.993	D	0.86694	0.1925	10	0.52906	T	0.07	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	248;248	B4E100;Q7Z5R6	.;AB1IP_HUMAN	R	248	ENSP00000365411:T248R	ENSP00000365411:T248R	T	+	2	0	APBB1IP	26842525	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	ACA		0.343	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		13	62	0	0	0	0	13	62				
NCOA4	8031	broad.mit.edu	37	10	51585571	51585571	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:51585571A>T	ENST00000443446.1	+	8	1899	c.1670A>T	c.(1669-1671)gAc>gTc	p.D557V	NCOA4_ENST00000430396.2_Missense_Mutation_p.D457V|NCOA4_ENST00000452682.1_Missense_Mutation_p.D573V|NCOA4_ENST00000438493.1_Missense_Mutation_p.D573V|NCOA4_ENST00000414907.2_Missense_Mutation_p.D391V|NCOA4_ENST00000344348.6_Missense_Mutation_p.D557V|NCOA4_ENST00000374087.4_Missense_Mutation_p.D557V|NCOA4_ENST00000374082.1_Intron	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	557					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCTGGAGAAGACAAGTGGCTG	0.433			T	RET	papillary thyroid																																	uc001jis.3		NA		Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid 		0				central_nervous_system(1)|kidney(1)	2						c.(1669-1671)GAC>GTC		nuclear receptor coactivator 4 isoform 3							55.0	60.0	58.0					10																	51585571		2200	4293	6493	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51585571A>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.1670A>T	10.37:g.51585571A>T	ENSP00000390713:p.Asp557Val					PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Missense_Mutation_p.D573V|NCOA4_uc010qhd.1_Missense_Mutation_p.D573V|NCOA4_uc010qhe.1_Missense_Mutation_p.D457V|NCOA4_uc010qhf.1_Missense_Mutation_p.D391V|NCOA4_uc001jit.2_Missense_Mutation_p.D557V|NCOA4_uc009xoo.2_Missense_Mutation_p.D557V	p.D557V	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN			8	1873	+			557					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.1670A>T	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.689873	0.68271	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000414907;ENST00000344348;ENST00000443446	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	6.07	4.87	0.63330	.	0.045739	0.85682	D	0.000000	T	0.50684	0.1630	M	0.65498	2.005	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;P	0.68192	0.956;0.939;0.956;0.892	T	0.48305	-0.9047	9	.	.	.	-12.7172	13.0935	0.59178	0.8664:0.1336:0.0:0.0	.	457;573;573;557	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	V	573;573;457;557;391;557;557	ENSP00000405146:D573V;ENSP00000395465:D573V;ENSP00000393053:D457V;ENSP00000363200:D557V;ENSP00000411018:D391V;ENSP00000344552:D557V;ENSP00000390713:D557V	.	D	+	2	0	NCOA4	51255577	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.572000	0.74005	2.330000	0.79161	0.528000	0.53228	GAC		0.433	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		30	60	0	0	0	0	30	60				
RHOBTB1	9886	broad.mit.edu	37	10	62648688	62648688	+	Silent	SNP	T	T	A	rs148015761		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:62648688T>A	ENST00000337910.5	-	6	1075	c.738A>T	c.(736-738)ccA>ccT	p.P246P	RHOBTB1_ENST00000357917.4_Silent_p.P246P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	246					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					AAGGACACTCTGGAATTTTGA	0.478																																						uc001jli.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(736-738)CCA>CCT		Rho-related BTB domain containing 1							140.0	146.0	144.0					10																	62648688		2203	4300	6503	SO:0001819	synonymous_variant	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62648688T>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.738A>T	10.37:g.62648688T>A						RHOBTB1_uc001jlh.2_Silent_p.P246P|RHOBTB1_uc001jlj.2_Silent_p.P246P|RHOBTB1_uc001jlk.2_Silent_p.P246P|RHOBTB1_uc009xpe.1_Silent_p.P184P|RHOBTB1_uc001jll.2_5'UTR	p.P246P	NM_014836	NP_055651	O94844	RHBT1_HUMAN			7	1176	-	Prostate(12;0.0112)		246						Silent	SNP	ENST00000337910.5	37	c.738A>T	CCDS7261.1																																																																																				0.478	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			41	137	0	0	0	0	41	137				
USP54	159195	broad.mit.edu	37	10	75276690	75276690	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:75276690G>A	ENST00000339859.4	-	19	3594	c.3494C>T	c.(3493-3495)cCt>cTt	p.P1165L	RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.P1015L|USP54_ENST00000408019.1_Missense_Mutation_p.P1165L|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.P253L|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.P347L			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1165					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAATCAGAAGGGGAAGAGTT	0.507																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2		NA																	0				breast(3)|lung(2)|kidney(1)	6						c.(3493-3495)CCT>CTT		ubiquitin specific peptidase 54							125.0	127.0	126.0					10																	75276690		2203	4300	6503	SO:0001583	missense	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75276690G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3494C>T	10.37:g.75276690G>A	ENSP00000345216:p.Pro1165Leu					USP54_uc010qkk.1_Missense_Mutation_p.P347L|USP54_uc001juk.2_Missense_Mutation_p.P253L|USP54_uc001jul.2_Missense_Mutation_p.P253L|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.P1165L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	3511	-	Prostate(51;0.0112)		1165					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	c.3494C>T	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373589	0.11409	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.28895	1.78;1.78;1.75;1.59;1.64	5.54	0.489	0.16854	.	.	.	.	.	T	0.20455	0.0492	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.20550	0.046;0.004	B;B	0.22601	0.04;0.002	T	0.24404	-1.0161	9	0.62326	D	0.03	0.2019	10.4145	0.44314	0.3881:0.0:0.6119:0.0	.	347;1165	E7EW90;Q70EL1	.;UBP54_HUMAN	L	1165;1165;1015;253;347	ENSP00000345216:P1165L;ENSP00000386080:P1165L;ENSP00000408714:P1015L;ENSP00000378290:P253L;ENSP00000407368:P347L	ENSP00000345216:P1165L	P	-	2	0	USP54	74946696	1.000000	0.71417	0.211000	0.23655	0.463000	0.32649	1.232000	0.32636	-0.166000	0.10890	-0.150000	0.13652	CCT		0.507	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		49	115	0	0	0	0	49	115				
KCNMA1	3778	broad.mit.edu	37	10	79163662	79163662	+	Silent	SNP	C	C	A	rs201765039		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:79163662C>A	ENST00000286628.8	-	2	497	c.498G>T	c.(496-498)gcG>gcT	p.A166A	KCNMA1_ENST00000286627.5_Silent_p.A166A|KCNMA1_ENST00000404771.3_Silent_p.A166A|KCNMA1_ENST00000372443.1_Silent_p.A166A|KCNMA1_ENST00000404857.1_Silent_p.A166A|KCNMA1_ENST00000406533.3_Silent_p.A166A|KCNMA1_ENST00000354353.5_Silent_p.A166A|KCNMA1_ENST00000372440.1_Silent_p.A166A	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	166					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TCATCACCCCCGCCCAGTCCT	0.607																																						uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(496-498)GCG>GCT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						60.0	54.0	56.0					10																	79163662		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79163662C>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.498G>T	10.37:g.79163662C>A						KCNMA1_uc001jxj.2_Silent_p.A166A|KCNMA1_uc001jxo.2_Silent_p.A166A|KCNMA1_uc001jxm.2_Silent_p.A166A|KCNMA1_uc001jxq.2_Silent_p.A166A	p.A166A	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		2	675	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		166			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.498G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.55|10.55	1.380242|1.380242	0.24944|0.24944	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421|ENST00000372403	.|.	.|.	.|.	5.24|5.24	-3.57|-3.57	0.04612|0.04612	.|.	.|.	.|.	.|.	.|.	T|T	0.38348|0.38348	0.1037|0.1037	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.32955|0.32955	-0.9887|-0.9887	4|4	.|.	.|.	.|.	-8.6373|-8.6373	1.716|1.716	0.02902|0.02902	0.2376:0.1563:0.1182:0.488|0.2376:0.1563:0.1182:0.488	.|.	.|.	.|.	.|.	W|L	155|117	.|.	.|.	G|R	-|-	1|2	0|0	KCNMA1|KCNMA1	78833668|78833668	0.977000|0.977000	0.34250|0.34250	0.966000|0.966000	0.40874|0.40874	0.984000|0.984000	0.73092|0.73092	0.040000|0.040000	0.13905|0.13905	-0.690000|-0.690000	0.05142|0.05142	-0.885000|-0.885000	0.02943|0.02943	GGG|CGG		0.607	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		7	27	1	0	0.00198382	0.003216	7	27				
PKD2L1	9033	broad.mit.edu	37	10	102089669	102089669	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:102089669G>T	ENST00000318222.3	-	1	574	c.192C>A	c.(190-192)acC>acA	p.T64T	PKD2L1_ENST00000353274.3_Silent_p.T64T|PKD2L1_ENST00000338519.3_Silent_p.T64T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	64					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGACACCTGGGTCCTGTATG	0.567																																						uc001kqx.1		NA																	0				ovary(4)	4						c.(190-192)ACC>ACA		polycystic kidney disease 2-like 1							78.0	81.0	80.0					10																	102089669		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102089669G>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.192C>A	10.37:g.102089669G>T						PKD2L1_uc009xwm.1_Missense_Mutation_p.P10H	p.T64T	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	1	575	-		Colorectal(252;0.117)	64			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.192C>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	G	3.360	-0.130778	0.06753	.	.	ENSG00000107593	ENST00000465680	.	.	.	5.57	-2.88	0.05682	.	.	.	.	.	T	0.18045	0.0433	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26849	-1.0091	4	.	.	.	-3.0288	1.0319	0.01540	0.2185:0.2138:0.3501:0.2177	.	.	.	.	T	21	.	.	P	-	1	0	PKD2L1	102079659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.115000	0.10741	-0.169000	0.10834	-2.490000	0.00194	CCA		0.567	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		9	60	1	0	7.48e-07	1.41e-06	9	60				
PSD	5662	broad.mit.edu	37	10	104173584	104173584	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:104173584G>T	ENST00000020673.5	-	5	2021	c.1495C>A	c.(1495-1497)Ccc>Acc	p.P499T	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.P499T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	499					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGACTAGGGGGCTCCCTCCCT	0.632																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(1495-1497)CCC>ACC		pleckstrin and Sec7 domain containing							27.0	31.0	30.0					10																	104173584		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173584G>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1495C>A	10.37:g.104173584G>T	ENSP00000020673:p.Pro499Thr					PSD_uc001kvh.1_Missense_Mutation_p.P120T|PSD_uc009xxd.1_Missense_Mutation_p.P499T	p.P499T	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	2022	-			499					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1495C>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872301	0.33069	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.17213	2.29;2.29	4.65	4.65	0.58169	.	0.550372	0.17193	N	0.183415	T	0.09905	0.0243	N	0.19112	0.55	0.24734	N	0.993071	B	0.06786	0.001	B	0.04013	0.001	T	0.28396	-1.0045	10	0.14252	T	0.57	.	8.8562	0.35229	0.1035:0.0:0.8965:0.0	.	499	A5PKW4	PSD1_HUMAN	T	499;402;499	ENSP00000020673:P499T;ENSP00000384830:P499T	ENSP00000020673:P499T	P	-	1	0	PSD	104163574	0.550000	0.26489	1.000000	0.80357	0.986000	0.74619	0.736000	0.26130	2.154000	0.67381	0.456000	0.33151	CCC		0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			9	33	1	0	1.34e-11	2.75e-11	9	33				
SMC3	9126	broad.mit.edu	37	10	112328765	112328765	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:112328765G>A	ENST00000361804.4	+	2	211	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	29					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAAACATAATGTGATTGGTAA	0.328																																						uc001kze.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(85-87)GTG>ATG		structural maintenance of chromosomes 3							181.0	180.0	180.0					10																	112328765		2203	4299	6502	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112328765G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.85G>A	10.37:g.112328765G>A	ENSP00000354720:p.Val29Met						p.V29M	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	2	211	+		Breast(234;0.0848)|Lung NSC(174;0.238)	29					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.85G>A	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806880	0.90623	.	.	ENSG00000108055	ENST00000361804	D	0.91945	-2.94	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.96849	0.8971	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97189	0.9856	10	0.62326	D	0.03	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	29	Q9UQE7	SMC3_HUMAN	M	29	ENSP00000354720:V29M	ENSP00000354720:V29M	V	+	1	0	SMC3	112318755	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.932000	0.92897	2.587000	0.87381	0.563000	0.77884	GTG		0.328	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		32	28	0	0	0	0	32	28				
WDR11	55717	broad.mit.edu	37	10	122624702	122624702	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:122624702G>T	ENST00000263461.6	+	6	1103	c.857G>T	c.(856-858)cGc>cTc	p.R286L		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCAATAGAACGCACAGGAGTT	0.358																																						uc010qtf.1		NA																	0					0						c.(856-858)CGC>CTC		bromodomain and WD repeat domain containing 2							122.0	117.0	118.0					10																	122624702		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122624702G>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.857G>T	10.37:g.122624702G>T	ENSP00000263461:p.Arg286Leu					WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.R286L	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			6	1095	+			286					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.857G>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518055	0.96416	.	.	ENSG00000120008	ENST00000263461	D	0.93547	-3.24	5.96	5.96	0.96718	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.64997	1.995	0.80722	D	1	P	0.37688	0.605	B	0.31390	0.129	D	0.90617	0.4556	10	0.40728	T	0.16	-5.4927	20.422	0.99049	0.0:0.0:1.0:0.0	.	286	Q9BZH6	WDR11_HUMAN	L	286	ENSP00000263461:R286L	ENSP00000263461:R286L	R	+	2	0	WDR11	122614692	1.000000	0.71417	0.976000	0.42696	0.944000	0.59088	9.429000	0.97481	2.832000	0.97577	0.655000	0.94253	CGC		0.358	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			20	47	1	0	2.46e-09	4.91e-09	20	47				
DMBT1	1755	broad.mit.edu	37	10	124339338	124339338	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124339338C>T	ENST00000338354.3	+	10	1030	c.924C>T	c.(922-924)tcC>tcT	p.S308S	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.S308S|DMBT1_ENST00000368955.3_Silent_p.S308S|DMBT1_ENST00000330163.4_Silent_p.S308S|DMBT1_ENST00000368909.3_Silent_p.S308S|DMBT1_ENST00000344338.3_Silent_p.S308S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	308	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACATGAGTCCTACCTGTGGA	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(922-924)TCC>TCT		deleted in malignant brain tumors 1 isoform b							67.0	68.0	68.0					10																	124339338		1898	4121	6019	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339338C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.924C>T	10.37:g.124339338C>T						DMBT1_uc001lgl.1_Silent_p.S308S|DMBT1_uc001lgm.1_Silent_p.S308S|DMBT1_uc009xzz.1_Silent_p.S308S|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.S160S	p.S308S	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	1030	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	308			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.924C>T																																																																																					0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		59	131	0	0	0	0	59	131				
DMBT1	1755	broad.mit.edu	37	10	124358568	124358568	+	Missense_Mutation	SNP	T	T	A	rs201802690		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr10:124358568T>A	ENST00000338354.3	+	26	3341	c.3235T>A	c.(3235-3237)Tcc>Acc	p.S1079T	DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.S580T|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1069T|DMBT1_ENST00000330163.4_Missense_Mutation_p.S580T|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1079T|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1069T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1079	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCTGGCTCTCCCACAACTG	0.572																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(3235-3237)TCC>ACC		deleted in malignant brain tumors 1 isoform b							101.0	96.0	98.0					10																	124358568		1929	4141	6070	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124358568T>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.3235T>A	10.37:g.124358568T>A	ENSP00000342210:p.Ser1079Thr					DMBT1_uc001lgl.1_Missense_Mutation_p.S1069T|DMBT1_uc001lgm.1_Missense_Mutation_p.S580T|DMBT1_uc009xzz.1_Missense_Mutation_p.S1079T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.S40T	p.S1079T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			26	3341	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	1079			SRCR 8.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.3235T>A		.	.	.	.	.	.	.	.	.	.	T	8.702	0.909917	0.17833	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	3.57	-6.98	0.01611	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.838313	0.10030	N	0.724884	T	0.30541	0.0768	L	0.27944	0.81	0.09310	N	1	B;D;B;B;B	0.57257	0.167;0.979;0.107;0.0;0.0	B;P;B;B;B	0.56563	0.087;0.801;0.023;0.001;0.001	T	0.20605	-1.0270	10	0.13853	T	0.58	.	4.1715	0.10332	0.6029:0.0791:0.1583:0.1597	.	586;1079;580;1069;1079	Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	T	1079;1079;1079;1079;1079;1079;580;1069;580;580;1079;1069;580	ENSP00000342210:S1079T;ENSP00000343175:S1069T;ENSP00000327747:S580T;ENSP00000357905:S1079T;ENSP00000357951:S1069T;ENSP00000357952:S580T	ENSP00000331522:S580T	S	+	1	0	DMBT1	124348558	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-5.877000	0.00093	-0.959000	0.03618	-0.386000	0.06593	TCC		0.572	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	180	0	0	0	0	7	180				
IFITM1	8519	broad.mit.edu	37	11	314246	314246	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:314246A>C	ENST00000408968.3	+	1	394	c.76A>C	c.(76-78)Aac>Cac	p.N26H	IFITM1_ENST00000328221.5_Missense_Mutation_p.N26H|IFITM1_ENST00000528780.1_Missense_Mutation_p.N26H	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	26					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACCGTGATCAACATCCACAG	0.572																																						uc001loy.3		NA																	0					0						c.(76-78)AAC>CAC		interferon induced transmembrane protein 1							110.0	117.0	115.0					11																	314246		2041	4173	6214	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314246A>C	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.76A>C	11.37:g.314246A>C	ENSP00000386187:p.Asn26His						p.N26H	NM_003641	NP_003632	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	256	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	26			Extracellular (Potential).		Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.76A>C	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	A	2.695	-0.272191	0.05716	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.85773	-2.03;-2.03;-2.03	2.58	2.58	0.30949	.	1.277200	0.05871	N	0.624644	T	0.66046	0.2750	N	0.02202	-0.64	0.30762	N	0.743996	B	0.14438	0.01	B	0.23150	0.044	T	0.61667	-0.7016	10	0.13108	T	0.6	.	7.058	0.25109	1.0:0.0:0.0:0.0	.	26	P13164	IFM1_HUMAN	H	26;26;26;31	ENSP00000437057:N26H;ENSP00000330825:N26H;ENSP00000386187:N26H	ENSP00000330825:N26H	N	+	1	0	IFITM1	304246	0.995000	0.38212	0.877000	0.34402	0.067000	0.16453	2.260000	0.43267	1.446000	0.47643	0.172000	0.16884	AAC		0.572	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		4	116	0	0	0	0	4	116				
IFITM1	8519	broad.mit.edu	37	11	314253	314253	+	Missense_Mutation	SNP	A	A	G	rs201402251		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:314253A>G	ENST00000408968.3	+	1	401	c.83A>G	c.(82-84)cAc>cGc	p.H28R	IFITM1_ENST00000328221.5_Missense_Mutation_p.H28R|IFITM1_ENST00000528780.1_Missense_Mutation_p.H28R	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	28					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular signal transduction (GO:0035556)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of immune response (GO:0050776)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATCAACATCCACAGCGAGACC	0.582																																						uc001loy.3		NA																	0					0						c.(82-84)CAC>CGC		interferon induced transmembrane protein 1							114.0	120.0	118.0					11																	314253		2043	4176	6219	SO:0001583	missense	8519				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity	g.chr11:314253A>G	J04164	CCDS41584.1	11p15.5	2012-03-15	2012-03-13		ENSG00000185885	ENSG00000185885		"""CD molecules"""	5412	protein-coding gene	gene with protein product	"""interferon-induced transmembrane protein 1"""	604456	"""interferon induced transmembrane protein 1 (9-27)"""	IFI17		7559564	Standard	NM_003641		Approved	9-27, CD225	uc001loy.4	P13164		ENST00000408968.3:c.83A>G	11.37:g.314253A>G	ENSP00000386187:p.His28Arg						p.H28R	NM_003641	NP_003632	P13164	IFM1_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	263	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	28			Extracellular (Potential).		Q15322|Q53XZ0	Missense_Mutation	SNP	ENST00000408968.3	37	c.83A>G	CCDS41584.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.432268	0.01108	.	.	ENSG00000185885	ENST00000528780;ENST00000328221;ENST00000408968;ENST00000452428	D;D;D	0.85013	-1.93;-1.93;-1.93	3.14	-6.28	0.02020	.	0.896444	0.09111	N	0.847118	T	0.63082	0.2481	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52881	-0.8516	10	0.13108	T	0.6	.	7.7417	0.28845	0.1721:0.4097:0.4181:0.0	.	28	P13164	IFM1_HUMAN	R	28;28;28;33	ENSP00000437057:H28R;ENSP00000330825:H28R;ENSP00000386187:H28R	ENSP00000330825:H28R	H	+	2	0	IFITM1	304253	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-2.626000	0.00874	-2.029000	0.00930	0.172000	0.16884	CAC		0.582	IFITM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383595.1	NM_003641		5	118	0	0	0	0	5	118				
OR51G2	81282	broad.mit.edu	37	11	4935987	4935987	+	Nonsense_Mutation	SNP	G	G	A	rs150667862	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4935987G>A	ENST00000322013.3	-	1	935	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCGGATCTGTTTGGTCTTC	0.478																																						uc001lzr.1		NA																	0				skin(2)	2						c.(907-909)CAG>TAG		olfactory receptor, family 51, subfamily G,							94.0	78.0	84.0					11																	4935987		2201	4298	6499	SO:0001587	stop_gained	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4935987G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.907C>T	11.37:g.4935987G>A	ENSP00000322593:p.Gln303*						p.Q303*	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	907	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	303			Cytoplasmic (Potential).		Q6IFH7	Nonsense_Mutation	SNP	ENST00000322013.3	37	c.907C>T	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729030	0.89390	.	.	ENSG00000176893	ENST00000322013	.	.	.	5.23	5.23	0.72850	.	0.000000	0.43747	D	0.000537	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.2784	0.60200	0.0:0.1591:0.8409:0.0	.	.	.	.	X	303	.	ENSP00000322593:Q303X	Q	-	1	0	OR51G2	4892563	0.998000	0.40836	1.000000	0.80357	0.974000	0.67602	2.964000	0.49192	2.729000	0.93468	0.650000	0.86243	CAG		0.478	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		12	19	0	0	0	0	12	19				
OR52D1	390066	broad.mit.edu	37	11	5510098	5510098	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5510098G>C	ENST00000322641.5	+	1	184	c.162G>C	c.(160-162)atG>atC	p.M54I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	54					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)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGCCATGGACAATGCTC	0.527																																						uc010qzg.1		NA																	0				central_nervous_system(1)	1						c.(160-162)ATG>ATC		olfactory receptor, family 52, subfamily D,							302.0	229.0	254.0					11																	5510098		2201	4297	6498	SO:0001583	missense	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510098G>C	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.162G>C	11.37:g.5510098G>C	ENSP00000326232:p.Met54Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.M54I	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	162	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	54			Cytoplasmic (Potential).		B9EGY9|Q6IFI6	Missense_Mutation	SNP	ENST00000322641.5	37	c.162G>C	CCDS31384.1	.	.	.	.	.	.	.	.	.	.	G	4.288	0.052651	0.08291	.	.	ENSG00000181609	ENST00000322641	T	0.02916	4.11	5.55	-11.1	0.00147	GPCR, rhodopsin-like superfamily (1);	0.761018	0.12250	N	0.485687	T	0.00875	0.0029	N	0.01267	-0.92	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51332	-0.8719	10	0.52906	T	0.07	.	8.5742	0.33587	0.13:0.0922:0.5952:0.1826	.	54	Q9H346	O52D1_HUMAN	I	54	ENSP00000326232:M54I	ENSP00000326232:M54I	M	+	3	0	OR52D1	5466674	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-5.042000	0.00157	-2.123000	0.00823	0.637000	0.83480	ATG		0.527	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163		31	99	0	0	0	0	31	99				
UBQLN3	50613	broad.mit.edu	37	11	5530436	5530436	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5530436G>T	ENST00000311659.4	-	2	500	c.353C>A	c.(352-354)cCt>cAt	p.P118H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	118										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTGGCTGAGGGAGTGATCC	0.607																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(352-354)CCT>CAT		ubiquilin 3							71.0	65.0	67.0					11																	5530436		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5530436G>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.353C>A	11.37:g.5530436G>T	ENSP00000347997:p.Pro118His					HBG2_uc001mak.1_Intron	p.P118H	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	439	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	118					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.353C>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481651	0.44147	.	.	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.56444	0.97;0.46	5.59	5.59	0.84812	.	0.000000	0.47455	D	0.000221	T	0.73210	0.3558	M	0.80028	2.48	0.41558	D	0.988617	D	0.76494	0.999	D	0.71414	0.973	T	0.76454	-0.2953	10	0.72032	D	0.01	.	15.4446	0.75220	0.0:0.0:1.0:0.0	.	118	Q9H347	UBQL3_HUMAN	H	118	ENSP00000347997:P118H;ENSP00000412561:P118H	ENSP00000347997:P118H	P	-	2	0	UBQLN3	5487012	0.531000	0.26338	0.321000	0.25320	0.480000	0.33159	0.846000	0.27682	2.788000	0.95919	0.585000	0.79938	CCT		0.607	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		14	36	1	0	4.38e-07	8.36e-07	14	36				
OR56A3	390083	broad.mit.edu	37	11	5968729	5968729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:5968729G>T	ENST00000329564.6	+	1	160	c.153G>T	c.(151-153)atG>atT	p.M51I	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	51			M -> T (in dbSNP:rs1840178).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTCCTGATGACCATCTGGC	0.607																																						uc010qzt.1		NA																	0					0						c.(151-153)ATG>ATT		olfactory receptor, family 56, subfamily A,							122.0	122.0	122.0					11																	5968729		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968729G>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.153G>T	11.37:g.5968729G>T	ENSP00000331572:p.Met51Ile						p.M51I	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	153	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	51			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.153G>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.509832	0.00153	.	.	ENSG00000184478	ENST00000329564	T	0.01947	4.54	5.12	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.660669	0.14262	N	0.330710	T	0.00695	0.0023	N	0.00237	-1.79	0.19575	N	0.999964	B	0.02656	0.0	B	0.01281	0.0	T	0.47623	-0.9103	10	0.62326	D	0.03	-22.7094	4.9901	0.14209	0.0:0.4714:0.2888:0.2397	.	51	Q8NH54	O56A3_HUMAN	I	51	ENSP00000331572:M51I	ENSP00000331572:M51I	M	+	3	0	OR56A3	5925305	0.000000	0.05858	0.955000	0.39395	0.007000	0.05969	-0.350000	0.07721	0.065000	0.16485	-1.952000	0.00485	ATG		0.607	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		26	105	1	0	1.55e-18	3.4e-18	26	105				
OR56A1	120796	broad.mit.edu	37	11	6048387	6048387	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6048387T>A	ENST00000316650.5	-	1	584	c.548A>T	c.(547-549)aAc>aTc	p.N183I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGATGCAGTTCTCAATGAC	0.478																																						uc010qzw.1		NA																	0				ovary(2)|breast(1)	3						c.(547-549)AAC>ATC		olfactory receptor, family 56, subfamily A,							97.0	93.0	95.0					11																	6048387		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048387T>A	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.548A>T	11.37:g.6048387T>A	ENSP00000321246:p.Asn183Ile						p.N183I	NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	548	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	183			Extracellular (Potential).		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.548A>T	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154232	0.38021	.	.	ENSG00000180934	ENST00000316650	T	0.00123	8.7	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000286	T	0.00440	0.0014	M	0.80616	2.505	0.25734	N	0.985239	D	0.89917	1.0	D	0.83275	0.996	T	0.36939	-0.9727	10	0.87932	D	0	.	9.581	0.39488	0.0:0.0:0.176:0.824	.	183	Q8NGH5	O56A1_HUMAN	I	183	ENSP00000321246:N183I	ENSP00000321246:N183I	N	-	2	0	OR56A1	6004963	0.174000	0.23070	1.000000	0.80357	0.428000	0.31595	1.672000	0.37523	1.914000	0.55421	0.533000	0.62120	AAC		0.478	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		37	77	0	0	0	0	37	77				
TRIM3	10612	broad.mit.edu	37	11	6477901	6477901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6477901C>G	ENST00000525074.1	-	6	1449	c.1055G>C	c.(1054-1056)gGg>gCg	p.G352A	TRIM3_ENST00000536344.1_Missense_Mutation_p.G233A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G352A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G352A|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Missense_Mutation_p.G274A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	352					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCAACCGCCCGTCCTTGTC	0.672																																					Melanoma(6;5 510 1540 25169 29084)	uc001mdh.2		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5						c.(1054-1056)GGG>GCG		tripartite motif-containing 3							40.0	42.0	41.0					11																	6477901		2199	4292	6491	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6477901C>G	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1055G>C	11.37:g.6477901C>G	ENSP00000433102:p.Gly352Ala					TRIM3_uc001mdi.2_Missense_Mutation_p.G352A|TRIM3_uc010raj.1_Missense_Mutation_p.G233A|TRIM3_uc009yfd.2_Missense_Mutation_p.G352A|TRIM3_uc010rak.1_Missense_Mutation_p.G352A|TRIM3_uc001mdj.2_Missense_Mutation_p.G233A	p.G352A	NM_006458	NP_006449	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1442	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	352			Filamin.		B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1055G>C	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308535	0.60305	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39;-2.39	5.27	4.36	0.52297	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.046016	0.85682	D	0.000000	D	0.95329	0.8484	M	0.93898	3.47	0.58432	D	0.999995	P;D;P	0.69078	0.936;0.997;0.948	P;D;P	0.71414	0.839;0.973;0.9	D	0.95657	0.8712	10	0.59425	D	0.04	-21.33	12.7877	0.57516	0.0:0.9192:0.0:0.0808	.	233;233;352	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	A	352;352;352;352;341;274;352;233	ENSP00000433102:G352A;ENSP00000340797:G352A;ENSP00000441091:G274A;ENSP00000352508:G352A;ENSP00000445460:G233A	ENSP00000337094:G341A	G	-	2	0	TRIM3	6434477	1.000000	0.71417	0.971000	0.41717	0.410000	0.31052	7.482000	0.81143	1.226000	0.43582	0.563000	0.77884	GGG		0.672	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		18	57	0	0	0	0	18	57				
OR10A5	144124	broad.mit.edu	37	11	6867169	6867169	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:6867169C>A	ENST00000299454.4	+	1	287	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	OR10A5_ENST00000379831.2_Missense_Mutation_p.L90M			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	86					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(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGGGGACCCTGCTTGCCCA	0.498																																					Pancreas(44;21 1072 25662 28041 45559)	uc001met.1		NA																	0				skin(2)|ovary(1)	3						c.(256-258)CTG>ATG		olfactory receptor, family 10, subfamily A,							92.0	94.0	93.0					11																	6867169		2201	4292	6493	SO:0001583	missense	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867169C>A	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.256C>A	11.37:g.6867169C>A	ENSP00000299454:p.Leu86Met						p.L86M	NM_178168	NP_835462	Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	256	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	86			Extracellular (Potential).		O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	ENST00000299454.4	37	c.256C>A	CCDS7773.1	.	.	.	.	.	.	.	.	.	.	.	13.56	2.272486	0.40194	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.00411	7.53;7.53	3.42	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.147655	0.31472	N	0.007599	T	0.00845	0.0028	M	0.74467	2.265	0.22531	N	0.999018	D	0.76494	0.999	D	0.76071	0.987	T	0.44159	-0.9346	10	0.87932	D	0	.	5.3667	0.16117	0.0:0.7439:0.0:0.2561	.	86	Q9H207	O10A5_HUMAN	M	86;90	ENSP00000299454:L86M;ENSP00000369159:L90M	ENSP00000299454:L86M	L	+	1	2	OR10A5	6823745	0.000000	0.05858	0.972000	0.41901	0.995000	0.86356	-0.144000	0.10280	0.984000	0.38629	0.591000	0.81541	CTG		0.498	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		25	128	1	0	4.88e-14	1.02e-13	25	128				
OR10A3	26496	broad.mit.edu	37	11	7960256	7960256	+	Missense_Mutation	SNP	T	T	C	rs199512370		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:7960256T>C	ENST00000360759.3	-	1	885	c.812A>G	c.(811-813)aAg>aGg	p.K271R		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	271					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(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATCAGTTTCTTGGTTTCGGG	0.443																																						uc010rbi.1		NA																	0				pancreas(1)	1						c.(811-813)AAG>AGG		olfactory receptor, family 10, subfamily A,							201.0	182.0	188.0					11																	7960256		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960256T>C	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.812A>G	11.37:g.7960256T>C	ENSP00000353988:p.Lys271Arg						p.K271R	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	812	-			271			Extracellular (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.812A>G	CCDS31421.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	14.18	2.457319	0.43634	.	.	ENSG00000170683	ENST00000360759	T	0.00107	8.72	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42821	U	0.000657	T	0.00271	0.0008	N	0.25245	0.725	0.22389	N	0.999141	D	0.76494	0.999	D	0.87578	0.998	T	0.66011	-0.6029	10	0.66056	D	0.02	.	12.348	0.55132	0.0:0.0:0.0:1.0	.	271	P58181	O10A3_HUMAN	R	271	ENSP00000353988:K271R	ENSP00000353988:K271R	K	-	2	0	OR10A3	7916832	0.000000	0.05858	0.999000	0.59377	0.515000	0.34225	0.869000	0.27996	2.089000	0.63090	0.477000	0.44152	AAG		0.443	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		11	56	0	0	0	0	11	56				
FSHB	2488	broad.mit.edu	37	11	30253578	30253578	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:30253578C>T	ENST00000417547.1	+	2	168	c.129C>T	c.(127-129)acC>acT	p.T43T	FSHB_ENST00000254122.3_Silent_p.T43T|FSHB_ENST00000533718.1_Silent_p.T43T	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	43					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						GCATCAACACCACTTGGTGTG	0.458																																						uc001msl.2		NA																	0				ovary(3)	3						c.(127-129)ACC>ACT		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						87.0	77.0	80.0					11																	30253578		2202	4299	6501	SO:0001819	synonymous_variant	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30253578C>T		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.129C>T	11.37:g.30253578C>T						FSHB_uc001msm.2_Silent_p.T43T|FSHB_uc001msn.2_Silent_p.T43T	p.T43T	NM_000510	NP_000501	P01225	FSHB_HUMAN			2	198	+			43					A2TF08|A5JVV3|Q14D61	Silent	SNP	ENST00000417547.1	37	c.129C>T	CCDS7868.1																																																																																				0.458	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		15	51	0	0	0	0	15	51				
LRRC4C	57689	broad.mit.edu	37	11	40136707	40136707	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:40136707G>T	ENST00000278198.2	-	2	3099	c.1136C>A	c.(1135-1137)aCa>aAa	p.T379K	LRRC4C_ENST00000528697.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.T379K|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T379K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	379	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTCAGGGATGTGGAGGCCCG	0.498																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(1135-1137)ACA>AAA		netrin-G1 ligand precursor							105.0	95.0	98.0					11																	40136707		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136707G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1136C>A	11.37:g.40136707G>T	ENSP00000278198:p.Thr379Lys					LRRC4C_uc001mxc.1_Missense_Mutation_p.T375K|LRRC4C_uc001mxd.1_Missense_Mutation_p.T375K|LRRC4C_uc001mxb.1_Missense_Mutation_p.T375K	p.T379K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	3100	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	379			Ig-like C2-type.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1136C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	0.198	-1.046976	0.01997	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	T	0.57184	0.2036	N	0.08118	0	0.45452	D	0.998423	D	0.55172	0.97	P	0.47864	0.559	T	0.65191	-0.6228	10	0.59425	D	0.04	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	379	Q9HCJ2	LRC4C_HUMAN	K	379	ENSP00000278198:T379K;ENSP00000436976:T379K;ENSP00000437132:T379K;ENSP00000434761:T379K	ENSP00000278198:T379K	T	-	2	0	LRRC4C	40093283	1.000000	0.71417	0.994000	0.49952	0.260000	0.26232	6.030000	0.70903	2.798000	0.96311	0.650000	0.86243	ACA		0.498	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		21	80	1	0	2.71e-06	5e-06	21	80				
OR9G1	390174	broad.mit.edu	37	11	56468409	56468409	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:56468409C>T	ENST00000312153.1	+	1	546	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATTTGCTTCCCTTGGTGGAGC	0.468																																						uc010rjn.1		NA																	0					0						c.(544-546)CCC>CCT		olfactory receptor, family 9, subfamily G,							119.0	121.0	120.0					11																	56468409		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468409C>T	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.546C>T	11.37:g.56468409C>T							p.P182P	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	546	+			182			Extracellular (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.546C>T	CCDS31536.1																																																																																				0.468	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		28	105	0	0	0	0	28	105				
AHNAK	79026	broad.mit.edu	37	11	62284353	62284353	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:62284353C>A	ENST00000378024.4	-	5	17810	c.17536G>T	c.(17536-17538)Ggc>Tgc	p.G5846C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5846					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTAACTTGCCTGTCTCATCA	0.512																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(17536-17538)GGC>TGC		AHNAK nucleoprotein isoform 1							214.0	184.0	194.0					11																	62284353		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62284353C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.17536G>T	11.37:g.62284353C>A	ENSP00000367263:p.Gly5846Cys					AHNAK_uc001ntk.1_Intron	p.G5846C	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	17836	-		Melanoma(852;0.155)	5846					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.17536G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489720	0.44249	.	.	ENSG00000124942	ENST00000378024	T	0.03772	3.81	4.99	4.08	0.47627	.	.	.	.	.	T	0.09247	0.0228	N	0.19112	0.55	0.29911	N	0.823569	D	0.76494	0.999	D	0.68483	0.958	T	0.10497	-1.0627	9	0.49607	T	0.09	-2.3749	8.7777	0.34771	0.0:0.7775:0.0:0.2225	.	5846	Q09666	AHNK_HUMAN	C	5846	ENSP00000367263:G5846C	ENSP00000367263:G5846C	G	-	1	0	AHNAK	62040929	0.000000	0.05858	1.000000	0.80357	0.915000	0.54546	-0.116000	0.10724	1.099000	0.41499	-0.275000	0.10095	GGC		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		32	106	1	0	3.9e-15	8.34e-15	32	106				
CDK2AP2	10263	broad.mit.edu	37	11	67275066	67275066	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:67275066C>A	ENST00000301488.3	-	2	725	c.177G>T	c.(175-177)gtG>gtT	p.V59V	PITPNM1_ENST00000356404.3_5'Flank|CDK2AP2_ENST00000531506.1_Silent_p.V59V|PITPNM1_ENST00000436757.2_5'Flank	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	59										lung(1)	1						CACTCACCTGCACGTAGCCCA	0.627																																						uc001oma.2		NA																	0					0						c.(175-177)GTG>GTT		cyclin-dependent kinase 2 associated protein 2							48.0	43.0	45.0					11																	67275066		2199	4295	6494	SO:0001819	synonymous_variant	10263							g.chr11:67275066C>A	AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.177G>T	11.37:g.67275066C>A						PITPNM1_uc001oly.2_5'Flank|PITPNM1_uc001olz.2_5'Flank|CDK2AP2_uc009yry.2_RNA|CDK2AP2_uc001omb.2_Silent_p.V68V	p.V59V	NM_005851	NP_005842	O75956	CDKA2_HUMAN			2	726	-			59						Silent	SNP	ENST00000301488.3	37	c.177G>T	CCDS8169.1																																																																																				0.627	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395535.1	NM_005851		9	39	1	0	5.49e-09	1.08e-08	9	39				
NAALAD2	10003	broad.mit.edu	37	11	89902135	89902135	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:89902135T>A	ENST00000534061.1	+	12	1547	c.1317T>A	c.(1315-1317)taT>taA	p.Y439*	NAALAD2_ENST00000321955.4_Nonsense_Mutation_p.Y406*|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	439	NAALADase.				neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCATTGCTTATATCAACTCGG	0.284																																						uc001pdf.3		NA																	0				pancreas(1)|skin(1)	2						c.(1315-1317)TAT>TAA		N-acetylated alpha-linked acidic dipeptidase 2							59.0	63.0	62.0					11																	89902135		2201	4295	6496	SO:0001587	stop_gained	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89902135T>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.1317T>A	11.37:g.89902135T>A	ENSP00000432481:p.Tyr439*					NAALAD2_uc009yvx.2_Nonsense_Mutation_p.Y406*|NAALAD2_uc009yvy.2_Intron	p.Y439*	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			12	1426	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	439			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Nonsense_Mutation	SNP	ENST00000534061.1	37	c.1317T>A	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	T	38	6.847330	0.97881	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.75	-3.06	0.05379	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.7726	13.7319	0.62792	0.0:0.5958:0.0:0.4042	.	.	.	.	X	439;406	.	.	Y	+	3	2	NAALAD2	89541783	0.877000	0.30153	0.963000	0.40424	0.987000	0.75469	-0.073000	0.11468	-0.318000	0.08665	-0.271000	0.10264	TAT		0.284	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		16	34	0	0	0	0	16	34				
EXPH5	23086	broad.mit.edu	37	11	108383615	108383615	+	Silent	SNP	C	C	A	rs114840330	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:108383615C>A	ENST00000265843.4	-	6	2729	c.2619G>T	c.(2617-2619)tcG>tcT	p.S873S	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000428840.1_Silent_p.S797S|EXPH5_ENST00000443411.1_Silent_p.S685S|EXPH5_ENST00000525344.1_Silent_p.S866S	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	873					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAGAATCACACGAGGTCTTGT	0.413																																						uc001pkk.2		NA																	0				skin(3)|ovary(2)	5						c.(2617-2619)TCG>TCT		exophilin 5 isoform a							226.0	211.0	216.0					11																	108383615		2201	4297	6498	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383615C>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2619G>T	11.37:g.108383615C>A						EXPH5_uc010rvy.1_Silent_p.S685S|EXPH5_uc010rvz.1_Silent_p.S717S|EXPH5_uc010rwa.1_Silent_p.S797S	p.S873S	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	2730	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	873					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.2619G>T	CCDS8341.1																																																																																				0.413	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		34	96	1	0	1.36e-19	3e-19	34	96				
ZW10	9183	broad.mit.edu	37	11	113630936	113630936	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:113630936G>C	ENST00000200135.3	-	5	719	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	192	Interaction with RINT1.				ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGCACCTTTTGATGGTGGGAA	0.423																																						uc001poe.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(574-576)TCA>TGA		centromere/kinetochore protein zw10							145.0	119.0	128.0					11																	113630936		2201	4296	6497	SO:0001587	stop_gained	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113630936G>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.575C>G	11.37:g.113630936G>C	ENSP00000200135:p.Ser192*					ZW10_uc009yyv.2_RNA	p.S192*	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	5	612	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	192			Interaction with RINT1.		A1A528	Nonsense_Mutation	SNP	ENST00000200135.3	37	c.575C>G	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645411	0.87859	.	.	ENSG00000086827	ENST00000200135	.	.	.	4.96	4.96	0.65561	.	0.398742	0.27682	N	0.018300	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-6.3958	17.3745	0.87387	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000200135:S192X	S	-	2	0	ZW10	113136146	1.000000	0.71417	0.997000	0.53966	0.607000	0.37147	8.819000	0.91997	2.577000	0.86979	0.313000	0.20887	TCA		0.423	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		15	35	0	0	0	0	15	35				
IL10RA	3587	broad.mit.edu	37	11	117869498	117869498	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:117869498C>A	ENST00000227752.3	+	7	999	c.879C>A	c.(877-879)atC>atA	p.I293I	IL10RA_ENST00000545409.1_Silent_p.I144I|IL10RA_ENST00000541785.1_Silent_p.I273I|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	293					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AAGACACCATCCACCCGCTTG	0.577																																						uc001prv.2		NA																	0				ovary(1)	1						c.(877-879)ATC>ATA		interleukin 10 receptor, alpha precursor							100.0	79.0	86.0					11																	117869498		2200	4296	6496	SO:0001819	synonymous_variant	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117869498C>A	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.879C>A	11.37:g.117869498C>A						IL10RA_uc010rxl.1_Silent_p.I273I|IL10RA_uc010rxm.1_Silent_p.I273I|IL10RA_uc010rxn.1_Silent_p.I144I|IL10RA_uc001prw.2_Silent_p.I144I	p.I293I	NM_001558	NP_001549	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	7	956	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	293			Cytoplasmic (Potential).		A8K6I0|B0YJ27	Silent	SNP	ENST00000227752.3	37	c.879C>A	CCDS8388.1																																																																																				0.577	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			13	45	1	0	0.00136819	0.00224027	13	45				
FOXR1	283150	broad.mit.edu	37	11	118850289	118850289	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118850289C>G	ENST00000317011.3	+	4	747	c.522C>G	c.(520-522)ccC>ccG	p.P174P		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	174					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGTCCCGGCCCCCTCTCAATT	0.597																																						uc001pui.2		NA																	0				skin(1)	1						c.(520-522)CCC>CCG		forkhead box R1							52.0	60.0	57.0					11																	118850289		2200	4295	6495	SO:0001819	synonymous_variant	283150				embryo development|organ development|pattern specification process|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.chr11:118850289C>G	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.522C>G	11.37:g.118850289C>G						FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Intron	p.P174P	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	4	747	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	174			Fork-head.		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Silent	SNP	ENST00000317011.3	37	c.522C>G	CCDS31688.1																																																																																				0.597	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		15	85	0	0	0	0	15	85				
OR10G8	219869	broad.mit.edu	37	11	123901012	123901012	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901012G>T	ENST00000431524.1	+	1	716	c.683G>T	c.(682-684)cGc>cTc	p.R228L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	228						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGCGGATCCGCACCTCAGAG	0.527																																						uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(682-684)CGC>CTC		olfactory receptor, family 10, subfamily G,							164.0	141.0	149.0					11																	123901012		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901012G>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.683G>T	11.37:g.123901012G>T	ENSP00000389072:p.Arg228Leu						p.R228L	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	683	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	228			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.683G>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	3.406	-0.121199	0.06838	.	.	ENSG00000234560	ENST00000431524	T	0.39787	1.06	2.91	-2.87	0.05700	GPCR, rhodopsin-like superfamily (1);	0.719773	0.12529	N	0.460945	T	0.45875	0.1364	M	0.83012	2.62	0.09310	N	1	B	0.31837	0.342	B	0.40101	0.319	T	0.51671	-0.8676	10	0.52906	T	0.07	.	6.2156	0.20653	0.4144:0.2096:0.376:0.0	.	228	Q8NGN5	O10G8_HUMAN	L	228	ENSP00000389072:R228L	ENSP00000389072:R228L	R	+	2	0	OR10G8	123406222	0.000000	0.05858	0.872000	0.34217	0.018000	0.09664	-0.265000	0.08644	-0.551000	0.06175	-2.252000	0.00282	CGC		0.527	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		29	80	1	0	2.13e-12	4.4e-12	29	80				
OR10G8	219869	broad.mit.edu	37	11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542																																						uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(736-738)GTG>ATG		olfactory receptor, family 10, subfamily G,							152.0	130.0	137.0					11																	123901065		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901065G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.736G>A	11.37:g.123901065G>A	ENSP00000389072:p.Val246Met						p.V246M	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	736	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	246			Helical; Name=6; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.736G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	2.180	-0.387797	0.04932	.	.	ENSG00000234560	ENST00000431524	T	0.00277	8.34	2.91	0.983	0.19767	GPCR, rhodopsin-like superfamily (1);	0.191999	0.25442	N	0.030651	T	0.00356	0.0011	M	0.91249	3.19	0.09310	N	1	P	0.38455	0.632	B	0.38106	0.265	T	0.33111	-0.9881	10	0.72032	D	0.01	.	8.3844	0.32491	0.2048:0.0:0.7952:0.0	.	246	Q8NGN5	O10G8_HUMAN	M	246	ENSP00000389072:V246M	ENSP00000389072:V246M	V	+	1	0	OR10G8	123406275	0.002000	0.14202	0.281000	0.24762	0.007000	0.05969	1.171000	0.31896	0.111000	0.17947	-1.019000	0.02448	GTG		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		18	95	0	0	0	0	18	95				
SPATA19	219938	broad.mit.edu	37	11	133714155	133714155	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:133714155C>G	ENST00000299140.3	-	4	399	c.345G>C	c.(343-345)caG>caC	p.Q115H	SPATA19_ENST00000532889.1_Missense_Mutation_p.Q115H	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	115					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.Q115H(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTTATGAACTGGATTCGTG	0.537																																						uc001qgv.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(343-345)CAG>CAC		spermatogenesis associated 19 precursor							183.0	141.0	155.0					11																	133714155		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714155C>G	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.345G>C	11.37:g.133714155C>G	ENSP00000299140:p.Gln115His						p.Q115H	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	4	396	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	115					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.345G>C	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.213554	0.58452	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.54866	0.55;0.55	5.53	5.53	0.82687	.	0.226258	0.31438	N	0.007655	T	0.62986	0.2473	L	0.34521	1.04	0.40138	D	0.976809	D	0.89917	1.0	D	0.85130	0.997	T	0.66516	-0.5904	10	0.87932	D	0	-14.1255	14.9341	0.70938	0.0:1.0:0.0:0.0	.	115	Q7Z5L4	SPT19_HUMAN	H	115	ENSP00000299140:Q115H;ENSP00000435248:Q115H	ENSP00000299140:Q115H	Q	-	3	2	SPATA19	133219365	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.821000	0.55700	2.604000	0.88044	0.655000	0.94253	CAG		0.537	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		38	65	0	0	0	0	38	65				
GLB1L2	89944	broad.mit.edu	37	11	134240963	134240963	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:134240963A>T	ENST00000535456.2	+	13	1465	c.1277A>T	c.(1276-1278)cAg>cTg	p.Q426L	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.Q426L|GLB1L2_ENST00000389881.3_Missense_Mutation_p.Q426L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	426					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGAAATGGACAGTCCTTCGGG	0.537																																						uc001qhp.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1276-1278)CAG>CTG		galactosidase, beta 1-like 2 precursor							147.0	141.0	143.0					11																	134240963		2201	4297	6498	SO:0001583	missense	89944				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134240963A>T		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1277A>T	11.37:g.134240963A>T	ENSP00000444628:p.Gln426Leu					GLB1L2_uc009zdg.1_RNA	p.Q426L	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)	13	1465	+	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)	426					A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	ENST00000535456.2	37	c.1277A>T	CCDS31724.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.596976	0.66332	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	D;D;D	0.94793	-3.52;-3.52;-3.52	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	M	0.86805	2.84	0.80722	D	1	D	0.64830	0.994	P	0.56648	0.803	D	0.96945	0.9690	10	0.54805	T	0.06	-26.1196	15.3639	0.74503	1.0:0.0:0.0:0.0	.	426	Q8IW92	GLBL2_HUMAN	L	426	ENSP00000344659:Q426L;ENSP00000444628:Q426L;ENSP00000374531:Q426L	ENSP00000344659:Q426L	Q	+	2	0	GLB1L2	133746173	1.000000	0.71417	0.994000	0.49952	0.271000	0.26615	8.137000	0.89612	2.326000	0.78906	0.533000	0.62120	CAG		0.537	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393629.2	NM_138342		26	105	0	0	0	0	26	105				
SLC6A12	6539	broad.mit.edu	37	12	309926	309926	+	Nonsense_Mutation	SNP	G	G	T	rs547529730		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:309926G>T	ENST00000428720.1	-	7	1345	c.602C>A	c.(601-603)tCg>tAg	p.S201*	SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.S201*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.S201*|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.S201*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	201					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGGATGCCCGAGGTGATGCC	0.567																																						uc001qhz.2		NA																	0				ovary(1)	1						c.(601-603)TCG>TAG		solute carrier family 6 (neurotransmitter							92.0	91.0	92.0					12																	309926		2203	4300	6503	SO:0001587	stop_gained	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:309926G>T	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.602C>A	12.37:g.309926G>T	ENSP00000388184:p.Ser201*					SLC6A12_uc001qhx.2_5'Flank|SLC6A12_uc001qhy.2_5'Flank|SLC6A12_uc001qia.2_Nonsense_Mutation_p.S201*|SLC6A12_uc001qib.2_Nonsense_Mutation_p.S201*|SLC6A12_uc009zdh.1_Nonsense_Mutation_p.S201*|SLC6A12_uc009zdi.1_RNA	p.S201*	NM_003044	NP_003035	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		8	1145	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		201			Extracellular (Potential).		A0AV52|B2R992|D3DUN8	Nonsense_Mutation	SNP	ENST00000428720.1	37	c.602C>A	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	36	5.704782	0.96812	.	.	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	.	.	.	5.11	5.11	0.69529	.	0.755436	0.12026	N	0.506449	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	11.8324	0.52303	0.0:0.0:0.6995:0.3005	.	.	.	.	X	201	.	ENSP00000352702:S201X	S	-	2	0	SLC6A12	180187	0.075000	0.21258	0.581000	0.28614	0.632000	0.37999	1.839000	0.39220	2.374000	0.81015	0.655000	0.94253	TCG		0.567	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		29	82	1	0	5.46e-16	1.18e-15	29	82				
CLEC7A	64581	broad.mit.edu	37	12	10279171	10279171	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10279171T>A	ENST00000304084.8	-	3	493	c.339A>T	c.(337-339)acA>acT	p.T113T	CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000533022.1_Splice_Site_p.T113T|CLEC7A_ENST00000298523.5_Intron	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	113					carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TGCCCTTGCCTGTGGTTTTGA	0.423																																						uc001qxg.2		NA																	0				central_nervous_system(1)	1						c.(337-339)ACA>ACT		dendritic cell-associated C-type lectin 1							200.0	184.0	189.0					12																	10279171		1884	4112	5996	SO:0001630	splice_region_variant	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10279171T>A	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.340+1A>T	12.37:g.10279171T>A						CLEC7A_uc001qxe.3_RNA|CLEC7A_uc001qxf.2_Intron|CLEC7A_uc001qxh.2_Intron|CLEC7A_uc001qxi.2_Silent_p.T113T|CLEC7A_uc001qxj.2_Intron|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc001qxk.1_RNA|CLEC7A_uc001qxl.1_Silent_p.T113T|CLEC7A_uc010sgy.1_Intron|CLEC7A_uc001qxm.1_Intron	p.T113T	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN			3	526	-			113			Extracellular (Potential).		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Silent	SNP	ENST00000304084.8	37	c.339A>T	CCDS41753.1																																																																																				0.423	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954	Silent	31	89	0	0	0	0	31	89				
OLR1	4973	broad.mit.edu	37	12	10319426	10319426	+	Silent	SNP	C	C	T	rs146929021		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:10319426C>T	ENST00000309539.3	-	3	369	c.309G>A	c.(307-309)aaG>aaA	p.K103K	OLR1_ENST00000432556.2_Silent_p.K103K|OLR1_ENST00000545927.1_Silent_p.K103K|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000544577.1_Silent_p.K103K	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	103	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTATCATTTCCTTGAGTTCGT	0.448																																						uc001qxo.1		NA																	0				ovary(1)	1						c.(307-309)AAG>AAA		oxidized low density lipoprotein (lectin-like)		C	,,	0,4406		0,0,2203	203.0	192.0	196.0		309,309,309	-8.4	0.0	12	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OLR1	NM_001172632.1,NM_001172633.1,NM_002543.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	103/182,103/190,103/274	10319426	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10319426C>T	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.309G>A	12.37:g.10319426C>T						OLR1_uc010sgz.1_5'UTR|OLR1_uc010sha.1_Silent_p.K103K	p.K103K	NM_002543	NP_002534	P78380	OLR1_HUMAN			3	423	-			103			Extracellular (Potential).|Neck.|Potential.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Silent	SNP	ENST00000309539.3	37	c.309G>A	CCDS8618.1																																																																																				0.448	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		36	132	0	0	0	0	36	132				
SLCO1A2	6579	broad.mit.edu	37	12	21457428	21457428	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:21457428G>T	ENST00000307378.6	-	7	1242	c.522C>A	c.(520-522)ccC>ccA	p.P174P	SLCO1A2_ENST00000452078.1_Silent_p.P174P|SLCO1A2_ENST00000458504.1_Silent_p.P42P|SLCO1A2_ENST00000537524.1_Silent_p.P42P|SLCO1A2_ENST00000390670.3_Silent_p.P172P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	174					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AAGGCAGGATGGGAGTTTCAC	0.343																																						uc001rer.2		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(520-522)CCC>CCA		organic anion transporting polypeptide A							91.0	87.0	88.0					12																	21457428		2203	4300	6503	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21457428G>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.522C>A	12.37:g.21457428G>T						SLCO1A2_uc001res.2_Silent_p.P174P|SLCO1A2_uc010siq.1_Silent_p.P42P|SLCO1A2_uc010sio.1_Silent_p.P42P|SLCO1A2_uc010sip.1_Silent_p.P42P|SLCO1A2_uc001ret.2_Silent_p.P172P|SLCO1A2_uc001reu.2_Silent_p.P154P	p.P174P	NM_021094	NP_066580	P46721	SO1A2_HUMAN			5	773	-			174			Helical; Name=4; (Potential).		Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.522C>A	CCDS8686.1																																																																																				0.343	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		20	36	1	0	2.39e-15	5.13e-15	20	36				
LRRK2	120892	broad.mit.edu	37	12	40714839	40714839	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40714839G>T	ENST00000298910.7	+	35	5077	c.5019G>T	c.(5017-5019)ttG>ttT	p.L1673F		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1673					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CCTTTAGTTTGTCTGACCACA	0.388																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5017-5019)TTG>TTT		leucine-rich repeat kinase 2							191.0	182.0	185.0					12																	40714839		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40714839G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5019G>T	12.37:g.40714839G>T	ENSP00000298910:p.Leu1673Phe					LRRK2_uc009zjw.2_Missense_Mutation_p.L511F|LRRK2_uc001rmi.2_Missense_Mutation_p.L506F	p.L1673F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			35	5140	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1673					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5019G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003560	0.74932	.	.	ENSG00000188906	ENST00000298910	D	0.90504	-2.68	5.96	-0.401	0.12407	.	0.000000	0.64402	D	0.000001	D	0.92773	0.7702	M	0.75085	2.285	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.89304	0.3628	10	0.51188	T	0.08	.	6.641	0.22909	0.2428:0.218:0.5392:0.0	.	1673;1673	Q17RV3;Q5S007	.;LRRK2_HUMAN	F	1673	ENSP00000298910:L1673F	ENSP00000298910:L1673F	L	+	3	2	LRRK2	39001106	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	2.030000	0.41108	-0.124000	0.11724	0.655000	0.94253	TTG		0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		27	118	1	0	1.75e-13	3.66e-13	27	118				
LRRK2	120892	broad.mit.edu	37	12	40728910	40728910	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:40728910A>T	ENST00000298910.7	+	40	5957	c.5899A>T	c.(5899-5901)Act>Tct	p.T1967S		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1967	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCCAGCCTCACTAGAACCCT	0.507																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(5899-5901)ACT>TCT		leucine-rich repeat kinase 2							117.0	107.0	110.0					12																	40728910		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40728910A>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5899A>T	12.37:g.40728910A>T	ENSP00000298910:p.Thr1967Ser					LRRK2_uc009zjw.2_Missense_Mutation_p.T805S|LRRK2_uc001rmi.2_Missense_Mutation_p.T800S	p.T1967S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			40	6020	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1967			Protein kinase.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5899A>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	11.82	1.752072	0.31046	.	.	ENSG00000188906	ENST00000298910	D	0.92647	-3.08	4.85	3.67	0.42095	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.293503	0.42053	D	0.000773	T	0.77928	0.4204	N	0.01817	-0.705	0.36006	D	0.837709	B;B	0.28470	0.135;0.213	B;B	0.30401	0.115;0.086	T	0.73126	-0.4081	10	0.11794	T	0.64	.	11.5295	0.50599	0.8499:0.1501:0.0:0.0	.	1967;1967	Q17RV3;Q5S007	.;LRRK2_HUMAN	S	1967	ENSP00000298910:T1967S	ENSP00000298910:T1967S	T	+	1	0	LRRK2	39015177	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.743000	0.74848	0.665000	0.31066	0.459000	0.35465	ACT		0.507	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		24	58	0	0	0	0	24	58				
DBX2	440097	broad.mit.edu	37	12	45429852	45429852	+	Missense_Mutation	SNP	G	G	T	rs377142325		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:45429852G>T	ENST00000332700.6	-	2	620	c.449C>A	c.(448-450)gCg>gAg	p.A150E		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	150					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		accgcagcacgccgagtagaa	0.463																																						uc001rok.1		NA																	0					0						c.(448-450)GCG>GAG		developing brain homeobox 2							64.0	69.0	68.0					12																	45429852		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429852G>T		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.449C>A	12.37:g.45429852G>T	ENSP00000331470:p.Ala150Glu						p.A150E	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	621	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	150						Missense_Mutation	SNP	ENST00000332700.6	37	c.449C>A	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	9.045	0.990658	0.18966	.	.	ENSG00000185610	ENST00000332700	D	0.91631	-2.88	5.65	3.76	0.43208	.	0.434509	0.21867	N	0.067956	D	0.85809	0.5783	L	0.32530	0.975	0.09310	N	0.999994	B	0.11235	0.004	B	0.12156	0.007	T	0.64232	-0.6456	10	0.06757	T	0.87	-1.6482	15.099	0.72258	0.0:0.0:0.7416:0.2584	.	150	Q6ZNG2	DBX2_HUMAN	E	150	ENSP00000331470:A150E	ENSP00000331470:A150E	A	-	2	0	DBX2	43716119	0.660000	0.27420	0.006000	0.13384	0.382000	0.30200	3.999000	0.57031	0.794000	0.33899	0.655000	0.94253	GCG		0.463	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		5	27	1	0	2.01e-06	3.72e-06	5	27				
SCN8A	6334	broad.mit.edu	37	12	52115638	52115638	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:52115638G>T	ENST00000354534.6	+	12	2122	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	SCN8A_ENST00000550891.1_Silent_p.V648V|SCN8A_ENST00000545061.1_Silent_p.V648V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	648					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GCAACGGCGTGGTGTCCCTCA	0.647																																						uc001ryw.2		NA																	0				ovary(7)	7						c.(1942-1944)GTG>GTT		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						40.0	46.0	44.0					12																	52115638		2018	4133	6151	SO:0001819	synonymous_variant	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52115638G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.1944G>T	12.37:g.52115638G>T						SCN8A_uc010snl.1_Silent_p.V513V|SCN8A_uc001ryx.1_Silent_p.V513V|SCN8A_uc001ryz.1_Silent_p.V513V|SCN8A_uc001ryy.2_Silent_p.V513V	p.V648V	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	12	2122	+			648					B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	ENST00000354534.6	37	c.1944G>T	CCDS44891.1																																																																																				0.647	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		18	69	1	0	4.35e-09	8.64e-09	18	69				
CALCOCO1	57658	broad.mit.edu	37	12	54115880	54115880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:54115880G>A	ENST00000550804.1	-	5	598	c.538C>T	c.(538-540)Cga>Tga	p.R180*	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000430117.2_Nonsense_Mutation_p.R147*|CALCOCO1_ENST00000262059.4_Nonsense_Mutation_p.R180*|CALCOCO1_ENST00000548263.1_Nonsense_Mutation_p.R180*			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	180	N-terminal AD (CTNNB1 binding site). {ECO:0000250}.				intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTGCACTCGGCTCCTCAGC	0.607																																						uc001sef.2		NA																	0				ovary(1)	1						c.(538-540)CGA>TGA		coiled-coil transcriptional coactivator isoform							111.0	101.0	104.0					12																	54115880		2203	4300	6503	SO:0001587	stop_gained	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115880G>A	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.538C>T	12.37:g.54115880G>A	ENSP00000449960:p.Arg180*					CALCOCO1_uc010som.1_Nonsense_Mutation_p.R147*|CALCOCO1_uc010son.1_Nonsense_Mutation_p.R57*|CALCOCO1_uc001seh.2_Nonsense_Mutation_p.R180*|CALCOCO1_uc009znd.2_Nonsense_Mutation_p.R180*|CALCOCO1_uc001seg.2_Nonsense_Mutation_p.R57*|CALCOCO1_uc010soo.1_Nonsense_Mutation_p.R173*	p.R180*	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			5	682	-			180			Potential.|N-terminal AD (CTNNB1 binding site) (By similarity).		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Nonsense_Mutation	SNP	ENST00000550804.1	37	c.538C>T	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117068	0.94385	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	.	.	.	4.72	4.72	0.59763	.	0.451249	0.16652	N	0.205171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-2.1858	14.9884	0.71365	0.0:0.0:1.0:0.0	.	.	.	.	X	147;180;118;180;180;173;57	.	ENSP00000262059:R180X	R	-	1	2	CALCOCO1	52402147	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	2.106000	0.41835	2.342000	0.79632	0.462000	0.41574	CGA		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		32	81	0	0	0	0	32	81				
OR10A7	121364	broad.mit.edu	37	12	55615418	55615418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:55615418C>T	ENST00000326258.1	+	1	610	c.610C>T	c.(610-612)Ctc>Ttc	p.L204F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGCCTCCACACTCCTGTTTAT	0.463																																						uc010spf.1		NA																	0				ovary(4)	4						c.(610-612)CTC>TTC		olfactory receptor, family 10, subfamily A,							258.0	194.0	215.0					12																	55615418		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615418C>T	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.610C>T	12.37:g.55615418C>T	ENSP00000326718:p.Leu204Phe						p.L204F	NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN			1	610	+			204			Helical; Name=5; (Potential).		Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.610C>T	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	8.762	0.923937	0.18056	.	.	ENSG00000179919	ENST00000326258	T	0.39229	1.09	3.81	0.898	0.19264	GPCR, rhodopsin-like superfamily (1);	0.247838	0.20705	N	0.087189	T	0.26702	0.0653	N	0.17901	0.54	0.09310	N	1	B	0.22146	0.065	B	0.33799	0.17	T	0.23226	-1.0194	10	0.56958	D	0.05	.	4.2511	0.10695	0.1589:0.5804:0.0:0.2607	.	204	Q8NGE5	O10A7_HUMAN	F	204	ENSP00000326718:L204F	ENSP00000326718:L204F	L	+	1	0	OR10A7	53901685	0.000000	0.05858	0.115000	0.21578	0.773000	0.43773	-1.486000	0.02312	0.074000	0.16767	0.637000	0.83480	CTC		0.463	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			25	63	0	0	0	0	25	63				
SLC16A7	9194	broad.mit.edu	37	12	60169129	60169129	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:60169129T>C	ENST00000261187.4	+	4	1217	c.1053T>C	c.(1051-1053)ttT>ttC	p.F351F	SLC16A7_ENST00000552432.1_Silent_p.F351F|SLC16A7_ENST00000552024.1_Silent_p.F351F|SLC16A7_ENST00000547379.1_Silent_p.F351F|SLC16A7_ENST00000543448.1_Silent_p.F252F	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	351					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)	GCCTTGGATTTGGGAGTGTTA	0.478																																						uc001sqs.2		NA																	0				ovary(1)	1						c.(1051-1053)TTT>TTC		solute carrier family 16, member 7	Pyruvic acid(DB00119)						187.0	172.0	177.0					12																	60169129		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.chr12:60169129T>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.1053T>C	12.37:g.60169129T>C						SLC16A7_uc001sqt.2_Silent_p.F351F|SLC16A7_uc001squ.2_Silent_p.F351F|SLC16A7_uc009zqi.2_Silent_p.F252F|SLC16A7_uc010ssi.1_Silent_p.F252F	p.F351F	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	5	1352	+			351			Helical; (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1053T>C	CCDS8961.1																																																																																				0.478	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		4	169	0	0	0	0	4	169				
RASSF3	283349	broad.mit.edu	37	12	65085357	65085357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:65085357G>A	ENST00000542104.1	+	4	685	c.565G>A	c.(565-567)Gag>Aag	p.E189K	RASSF3_ENST00000336061.2_Missense_Mutation_p.E189K	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	189	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		TGAAATTGGAGAGGTAAGTTA	0.453																																						uc001ssd.2		NA																	0					0						c.(565-567)GAG>AAG		Ras association (RalGDS/AF-6) domain family							126.0	104.0	112.0					12																	65085357		2203	4300	6503	SO:0001583	missense	283349				signal transduction	cytoplasm|microtubule	identical protein binding	g.chr12:65085357G>A		CCDS8969.1	12q14.2	2008-02-22	2008-02-22		ENSG00000153179	ENSG00000153179			14271	protein-coding gene	gene with protein product		607019					Standard	NM_178169		Approved		uc001ssd.3	Q86WH2	OTTHUMG00000168812	ENST00000542104.1:c.565G>A	12.37:g.65085357G>A	ENSP00000443021:p.Glu189Lys					RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Missense_Mutation_p.E119K	p.E189K	NM_178169	NP_835463	Q86WH2	RASF3_HUMAN	Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)	4	685	+			189			SARAH.		Q86WH1	Missense_Mutation	SNP	ENST00000542104.1	37	c.565G>A	CCDS8969.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261956	0.95368	.	.	ENSG00000153179	ENST00000542104;ENST00000336061;ENST00000541539	T;T	0.17691	2.26;2.26	4.71	4.71	0.59529	SARAH (1);	0.053822	0.64402	D	0.000001	T	0.37732	0.1014	M	0.83953	2.67	0.46954	D	0.999261	D	0.53745	0.962	P	0.51999	0.687	T	0.39881	-0.9592	9	.	.	.	-21.6471	18.0714	0.89408	0.0:0.0:1.0:0.0	.	189	Q86WH2	RASF3_HUMAN	K	189;189;119	ENSP00000443021:E189K;ENSP00000336616:E189K	.	E	+	1	0	RASSF3	63371624	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.883000	0.92426	2.327000	0.79052	0.561000	0.74099	GAG		0.453	RASSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401161.1			6	23	0	0	0	0	6	23				
NAV3	89795	broad.mit.edu	37	12	78400711	78400711	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:78400711C>A	ENST00000397909.2	+	8	1566	c.1393C>A	c.(1393-1395)Cca>Aca	p.P465T	NAV3_ENST00000228327.6_Missense_Mutation_p.P465T|NAV3_ENST00000536525.2_Missense_Mutation_p.P465T|NAV3_ENST00000266692.7_Missense_Mutation_p.P465T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	465						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TTTGCTACAGCCAAAGGAAAA	0.408										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1393-1395)CCA>ACA		neuron navigator 3							62.0	60.0	61.0					12																	78400711		1823	4076	5899	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400711C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1393C>A	12.37:g.78400711C>A	ENSP00000381007:p.Pro465Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P465T	p.P465T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1566	+			465					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.1393C>A		.	.	.	.	.	.	.	.	.	.	C	18.14	3.557328	0.65425	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.61392	0.11;1.68;1.68;1.67;1.52	5.73	5.73	0.89815	.	0.000000	0.39985	U	0.001215	T	0.56702	0.2003	L	0.50333	1.59	0.80722	D	1	P;B	0.48407	0.91;0.023	P;B	0.45099	0.469;0.012	T	0.51505	-0.8697	10	0.10636	T	0.68	-14.4278	19.9162	0.97063	0.0:1.0:0.0:0.0	.	465;465	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	T	465	ENSP00000446628:P465T;ENSP00000446132:P465T;ENSP00000381007:P465T;ENSP00000228327:P465T;ENSP00000266692:P465T	ENSP00000228327:P465T	P	+	1	0	NAV3	76924842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.167000	0.50793	2.710000	0.92621	0.650000	0.86243	CCA		0.408	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		12	56	1	0	2.81e-09	5.59e-09	12	56				
CEP290	80184	broad.mit.edu	37	12	88487640	88487640	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:88487640C>A	ENST00000552810.1	-	28	3559	c.3216G>T	c.(3214-3216)cgG>cgT	p.R1072R	CEP290_ENST00000397838.3_Silent_p.R132R|CEP290_ENST00000309041.7_Silent_p.R1074R|CEP290_ENST00000547691.2_Silent_p.R132R	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AATGTTCAGCCCGCTGCCTTT	0.348																																						uc001tar.2		NA																	0				ovary(5)|breast(1)|pancreas(1)	7						c.(3214-3216)CGG>CGT		centrosomal protein 290kDa							79.0	76.0	77.0					12																	88487640		1846	4088	5934	SO:0001819	synonymous_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88487640C>A	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3216G>T	12.37:g.88487640C>A						CEP290_uc001taq.2_Silent_p.R132R|CEP290_uc001tat.2_Silent_p.R865R	p.R1072R	NM_025114	NP_079390	O15078	CE290_HUMAN			28	3560	-			1072			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Silent	SNP	ENST00000552810.1	37	c.3216G>T	CCDS55858.1																																																																																				0.348	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		14	28	1	0	4.38e-07	8.36e-07	14	28				
ANKS1B	56899	broad.mit.edu	37	12	99793503	99793503	+	Silent	SNP	T	T	A	rs34594552		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:99793503T>A	ENST00000547776.2	-	12	1661	c.1662A>T	c.(1660-1662)acA>acT	p.T554T	ANKS1B_ENST00000329257.7_Silent_p.T554T|ANKS1B_ENST00000547010.1_Silent_p.T134T	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	554						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTGCACCCTGTAGATGTGT	0.428																																						uc001tge.1		NA																	0					0						c.(1660-1662)ACA>ACT		cajalin 2 isoform a							200.0	216.0	211.0					12																	99793503		1891	4121	6012	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99793503T>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1662A>T	12.37:g.99793503T>A						ANKS1B_uc001tgf.1_Silent_p.T134T|ANKS1B_uc009ztt.1_Silent_p.T520T	p.T554T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	12	2079	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	554					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.1662A>T	CCDS55872.1																																																																																				0.428	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		24	69	0	0	0	0	24	69				
DEPDC4	120863	broad.mit.edu	37	12	100657483	100657483	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:100657483A>G	ENST00000416321.1	-	2	348	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	116	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TTAAGACAAGAGATGTCATTG	0.363																																						uc001thi.2		NA																	0					0						c.(346-348)TCT>CCT		DEP domain containing 4							150.0	136.0	141.0					12																	100657483		2203	4300	6503	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100657483A>G	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.346T>C	12.37:g.100657483A>G	ENSP00000396234:p.Ser116Pro					DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Intron|DEPDC4_uc009ztv.1_Missense_Mutation_p.S116P|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	p.S116P	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			2	349	-			116			DEP.		Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.346T>C	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449685	0.26074	.	.	ENSG00000166153	ENST00000422147;ENST00000416321;ENST00000550587;ENST00000551642	T;T;T	0.15372	2.43;2.43;2.43	4.92	3.73	0.42828	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.25938	0.0632	L	0.50333	1.59	0.33235	D	0.556419	D;D	0.57899	0.981;0.981	P;P	0.57324	0.818;0.813	T	0.25293	-1.0136	9	0.22706	T	0.39	.	9.3063	0.37876	0.8184:0.1816:0.0:0.0	.	116;116	E9PGM3;Q8N2C3	.;DEPD4_HUMAN	P	116;116;116;109	ENSP00000396234:S116P;ENSP00000448385:S116P;ENSP00000449590:S109P	ENSP00000367490:S116P	S	-	1	0	DEPDC4	99181614	1.000000	0.71417	0.911000	0.35937	0.445000	0.32107	6.149000	0.71795	0.688000	0.31529	0.455000	0.32223	TCT		0.363	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		23	77	0	0	0	0	23	77				
ANO4	121601	broad.mit.edu	37	12	101442142	101442142	+	Silent	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:101442142A>T	ENST00000392977.3	+	14	1485	c.1275A>T	c.(1273-1275)ggA>ggT	p.G425G	ANO4_ENST00000392979.3_Silent_p.G390G|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000550015.1_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	425					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTGACAATGGAGCCACTGTCT	0.348										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(1273-1275)GGA>GGT		anoctamin 4							132.0	133.0	132.0					12																	101442142		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101442142A>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1275A>T	12.37:g.101442142A>T		HNSCC(74;0.22)				ANO4_uc001thw.2_Silent_p.G390G|ANO4_uc001thx.2_Silent_p.G425G|ANO4_uc001thy.2_5'UTR	p.G425G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			14	1847	+			425			Helical; (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.1275A>T																																																																																					0.348	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		13	42	0	0	0	0	13	42				
CCDC53	51019	broad.mit.edu	37	12	102433723	102433723	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:102433723T>C	ENST00000240079.6	-	5	519	c.358A>G	c.(358-360)Agt>Ggt	p.S120G	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.S119G	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	120						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GATACTTCACTTTCCTGTAGT	0.373																																						uc010svw.1		NA																	0					0						c.(358-360)AGT>GGT		coiled-coil domain containing 53							225.0	207.0	213.0					12																	102433723		1850	4119	5969	SO:0001583	missense	51019					WASH complex	protein binding	g.chr12:102433723T>C	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.358A>G	12.37:g.102433723T>C	ENSP00000240079:p.Ser120Gly					CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.S119G	p.S120G	NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN			5	517	-			120					B2RC74|Q53FF0|Q6IAI4|Q96QK0	Missense_Mutation	SNP	ENST00000240079.6	37	c.358A>G	CCDS44959.1	.	.	.	.	.	.	.	.	.	.	T	10.82	1.458283	0.26248	.	.	ENSG00000120860	ENST00000240079;ENST00000545679	.	.	.	5.82	1.54	0.23209	.	0.480140	0.26684	N	0.023034	T	0.30727	0.0774	L	0.52573	1.65	0.23624	N	0.997263	B;B	0.11235	0.003;0.004	B;B	0.11329	0.006;0.006	T	0.16778	-1.0391	9	0.23302	T	0.38	-17.3398	6.2419	0.20795	0.1287:0.1517:0.0:0.7196	.	119;120	F5GZ97;Q9Y3C0	.;CCD53_HUMAN	G	120;119	.	ENSP00000240079:S120G	S	-	1	0	CCDC53	100957853	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.832000	0.39151	0.430000	0.26230	0.524000	0.50904	AGT		0.373	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		37	130	0	0	0	0	37	130				
SLC41A2	84102	broad.mit.edu	37	12	105260336	105260336	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:105260336G>A	ENST00000258538.3	-	6	1176	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	350					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ACCAACTAATGGAGAAATGTA	0.343																																					Esophageal Squamous(195;176 2919 4272 35572)	uc001tla.2		NA																	0				ovary(1)|skin(1)	2						c.(1048-1050)CCA>CTA		solute carrier family 41, member 2							57.0	62.0	60.0					12																	105260336		2203	4300	6503	SO:0001583	missense	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105260336G>A	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.1049C>T	12.37:g.105260336G>A	ENSP00000258538:p.Pro350Leu						p.P350L	NM_032148	NP_115524	Q96JW4	S41A2_HUMAN			6	1216	-			350			Helical; (Potential).		Q3KP68|Q9H0E5	Missense_Mutation	SNP	ENST00000258538.3	37	c.1049C>T	CCDS9100.2	.	.	.	.	.	.	.	.	.	.	G	9.268	1.044900	0.19748	.	.	ENSG00000136052	ENST00000258538	T	0.32515	1.45	5.98	5.98	0.97165	.	0.105281	0.64402	D	0.000002	T	0.24084	0.0583	L	0.41492	1.28	0.58432	D	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.06588	-1.0818	10	0.09338	T	0.73	-1.8657	13.6272	0.62173	0.0705:0.0:0.9295:0.0	.	350	Q96JW4	S41A2_HUMAN	L	350	ENSP00000258538:P350L	ENSP00000258538:P350L	P	-	2	0	SLC41A2	103784466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.345000	0.72995	2.838000	0.97847	0.591000	0.81541	CCA		0.343	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		16	73	0	0	0	0	16	73				
HECTD4	283450	broad.mit.edu	37	12	112605241	112605241	+	Silent	SNP	C	C	G	rs369275260		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:112605241C>G	ENST00000430131.2	-	71	12293	c.11148G>C	c.(11146-11148)ccG>ccC	p.P3716P	HECTD4_ENST00000377560.5_Silent_p.P3966P|HECTD4_ENST00000550722.1_Silent_p.P3992P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3716	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCAGGGGCAGCGGGACGTCTG	0.622																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(11146-11148)CCG>CCC		chromosome 12 open reading frame 51							58.0	65.0	63.0					12																	112605241		2019	4160	6179	SO:0001819	synonymous_variant	283450							g.chr12:112605241C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11148G>C	12.37:g.112605241C>G							p.P3716P	NM_001109662	NP_001103132					65	11166	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.11148G>C																																																																																					0.622	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		17	57	0	0	0	0	17	57				
RASAL1	8437	broad.mit.edu	37	12	113541858	113541858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:113541858G>T	ENST00000261729.5	-	19	2309	c.1994C>A	c.(1993-1995)tCg>tAg	p.S665*	RASAL1_ENST00000548055.1_Nonsense_Mutation_p.S666*|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Nonsense_Mutation_p.S667*|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.S637*			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	665	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCGCAAGGCCGAGAGCCACTG	0.711																																						uc001tum.1		NA																	0				ovary(2)|skin(2)	4						c.(1993-1995)TCG>TAG		RAS protein activator like 1							15.0	19.0	17.0					12																	113541858		2201	4293	6494	SO:0001587	stop_gained	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113541858G>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1994C>A	12.37:g.113541858G>T	ENSP00000261729:p.Ser665*					RASAL1_uc010syp.1_Nonsense_Mutation_p.S666*|RASAL1_uc001tul.2_Nonsense_Mutation_p.S637*|RASAL1_uc001tun.1_Nonsense_Mutation_p.S667*|RASAL1_uc010syq.1_Nonsense_Mutation_p.S666*|RASAL1_uc001tuo.3_Nonsense_Mutation_p.S666*	p.S665*	NM_004658	NP_004649	O95294	RASL1_HUMAN			19	2287	-			665			PH.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Nonsense_Mutation	SNP	ENST00000261729.5	37	c.1994C>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	43	9.981466	0.99310	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	.	.	.	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2297	0.82323	0.0:0.0:1.0:0.0	.	.	.	.	X	667;665;637;666	.	ENSP00000261729:S665X	S	-	2	0	RASAL1	112026241	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.146000	0.58072	2.104000	0.64026	0.491000	0.48974	TCG		0.711	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		3	15	1	0	6.4e-05	0.000111982	3	15				
WDR66	144406	broad.mit.edu	37	12	122396265	122396265	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:122396265G>A	ENST00000288912.4	+	12	2672	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K	WDR66_ENST00000397454.2_Silent_p.K606K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	606							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TAGAGCCCAAGGATGCCATTT	0.448																																					Esophageal Squamous(85;849 1794 49757 52143)	uc009zxk.2		NA																	0				ovary(1)|skin(1)	2						c.(1816-1818)AAG>AAA		WD repeat domain 66							159.0	161.0	160.0					12																	122396265		1942	4130	6072	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122396265G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1818G>A	12.37:g.122396265G>A							p.K606K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	12	1960	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		606			WD 6.		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.1818G>A	CCDS41853.1																																																																																				0.448	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		40	134	0	0	0	0	40	134				
CHFR	55743	broad.mit.edu	37	12	133435715	133435715	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133435715C>T	ENST00000432561.2	-	8	959	c.886G>A	c.(886-888)Gac>Aac	p.D296N	CHFR_ENST00000450056.2_Missense_Mutation_p.D284N|CHFR_ENST00000266880.7_Missense_Mutation_p.D296N|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000443047.2_Missense_Mutation_p.D204N|CHFR_ENST00000315585.7_Missense_Mutation_p.D255N|CHFR_ENST00000537522.1_5'Flank			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	296					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TCCATCTTGTCTGGCTTCCCA	0.597																																						uc001ulf.2		NA																	0				skin(1)	1						c.(886-888)GAC>AAC		checkpoint with forkhead and ring finger domains							217.0	124.0	155.0					12																	133435715		2203	4300	6503	SO:0001583	missense	55743				cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:133435715C>T	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.886G>A	12.37:g.133435715C>T	ENSP00000392395:p.Asp296Asn					CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Missense_Mutation_p.D284N|CHFR_uc010tbs.1_Missense_Mutation_p.D296N|CHFR_uc001uld.2_Missense_Mutation_p.D255N|CHFR_uc010tbt.1_Missense_Mutation_p.D204N	p.D296N	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)	8	970	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)	296					A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	ENST00000432561.2	37	c.886G>A	CCDS53849.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116036	0.77323	.	.	ENSG00000072609	ENST00000315585;ENST00000443047;ENST00000450056;ENST00000266880;ENST00000541228;ENST00000432561	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.49	4.59	0.56863	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.65498	2.005	0.58432	D	0.999999	P;D;D;D;D	0.89917	0.905;1.0;1.0;0.999;0.972	P;D;D;D;P	0.91635	0.69;0.999;0.998;0.996;0.828	T	0.82544	-0.0404	10	0.72032	D	0.01	-17.9915	15.5208	0.75866	0.1395:0.8605:0.0:0.0	.	204;296;296;284;255	Q96EP1-5;Q96EP1-4;Q96EP1;Q96EP1-2;Q96EP1-3	.;.;CHFR_HUMAN;.;.	N	255;204;284;296;96;296	ENSP00000320557:D255N;ENSP00000416431:D204N;ENSP00000398735:D284N;ENSP00000266880:D296N;ENSP00000392395:D296N	ENSP00000266880:D296N	D	-	1	0	CHFR	131945788	1.000000	0.71417	0.869000	0.34112	0.794000	0.44872	7.364000	0.79526	1.279000	0.44446	0.655000	0.94253	GAC		0.597	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397130.2			13	42	0	0	0	0	13	42				
ZNF140	7699	broad.mit.edu	37	12	133682776	133682776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr12:133682776G>T	ENST00000355557.2	+	5	2196	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonsense_Mutation_p.E202*	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	305					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(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGAATGCATTGAATGTGGGAA	0.408																																						uc001ulo.2		NA																	0					0						c.(913-915)GAA>TAA		zinc finger protein 140							91.0	85.0	87.0					12																	133682776		2203	4300	6503	SO:0001587	stop_gained	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133682776G>T	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.913G>T	12.37:g.133682776G>T	ENSP00000347755:p.Glu305*					ZNF140_uc001ulp.2_Nonsense_Mutation_p.E202*|ZNF140_uc010tbu.1_Nonsense_Mutation_p.E202*	p.E305*	NM_003440	NP_003431	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1583	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	305			C2H2-type 6.		D3DXJ3|Q05CP6|Q8IV75	Nonsense_Mutation	SNP	ENST00000355557.2	37	c.913G>T	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	G	37	6.517174	0.97629	.	.	ENSG00000196387	ENST00000355557;ENST00000544426;ENST00000433577	.	.	.	3.28	3.28	0.37604	.	0.000000	0.38326	N	0.001729	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	14.4971	0.67698	0.0:0.0:1.0:0.0	.	.	.	.	X	305;202;124	.	ENSP00000347755:E305X	E	+	1	0	ZNF140	132192849	0.001000	0.12720	0.995000	0.50966	0.998000	0.95712	0.940000	0.28992	2.134000	0.65973	0.557000	0.71058	GAA		0.408	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		20	48	1	0	2.94e-08	5.75e-08	20	48				
TNFRSF19	55504	broad.mit.edu	37	13	24200851	24200851	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:24200851A>G	ENST00000382258.4	+	5	569	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.Y122C|TNFRSF19_ENST00000382263.3_Missense_Mutation_p.Y122C|TNFRSF19_ENST00000403372.2_5'UTR	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	122					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TCTAGATTTTATAGGAAGACG	0.443																																						uc001uov.1		NA																	0				kidney(1)|skin(1)	2						c.(364-366)TAT>TGT		tumor necrosis factor receptor superfamily,							99.0	93.0	95.0					13																	24200851		2203	4300	6503	SO:0001583	missense	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24200851A>G	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.365A>G	13.37:g.24200851A>G	ENSP00000371693:p.Tyr122Cys					TNFRSF19_uc001uot.2_Missense_Mutation_p.Y122C|TNFRSF19_uc010tcu.1_5'UTR|TNFRSF19_uc001uow.2_Missense_Mutation_p.Y122C	p.Y122C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	5	429	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	122			Extracellular (Potential).|TNFR-Cys 3.		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Missense_Mutation	SNP	ENST00000382258.4	37	c.365A>G	CCDS9302.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975474	0.53720	.	.	ENSG00000127863	ENST00000248484;ENST00000382258;ENST00000382263	T;T;T	0.50548	1.9;0.74;1.9	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75456	-0.3311	10	0.87932	D	0	-29.698	15.3132	0.74053	1.0:0.0:0.0:0.0	.	122;122	Q9NS68;Q9NS68-2	TNR19_HUMAN;.	C	122	ENSP00000248484:Y122C;ENSP00000371693:Y122C;ENSP00000371698:Y122C	ENSP00000248484:Y122C	Y	+	2	0	TNFRSF19	23098851	1.000000	0.71417	0.970000	0.41538	0.279000	0.26890	7.651000	0.83577	2.108000	0.64289	0.477000	0.44152	TAT		0.443	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2	NM_018647		14	33	0	0	0	0	14	33				
HSPH1	10808	broad.mit.edu	37	13	31711555	31711555	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:31711555T>C	ENST00000320027.5	-	18	2821	c.2477A>G	c.(2476-2478)gAa>gGa	p.E826G	HSPH1_ENST00000380406.5_Missense_Mutation_p.E785G|HSPH1_ENST00000380405.4_Missense_Mutation_p.E782G|HSPH1_ENST00000445273.2_Missense_Mutation_p.E828G|HSPH1_ENST00000429785.2_Missense_Mutation_p.E645G	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	826					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTCTAAATCTTCTTCCTTTTT	0.363																																						uc001utj.2		NA																	0					0						c.(2476-2478)GAA>GGA		heat shock 105kD							196.0	185.0	189.0					13																	31711555		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31711555T>C	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2477A>G	13.37:g.31711555T>C	ENSP00000318687:p.Glu826Gly					HSPH1_uc001utk.2_Missense_Mutation_p.E782G|HSPH1_uc010aaw.2_Missense_Mutation_p.E785G|HSPH1_uc001utl.2_Missense_Mutation_p.E828G|HSPH1_uc010tds.1_Missense_Mutation_p.E750G	p.E826G	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	18	2875	-		Lung SC(185;0.0257)	826					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2477A>G	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	9.645	1.140040	0.21205	.	.	ENSG00000120694	ENST00000435381;ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000380363;ENST00000429785	T;T;T;T;T	0.05081	4.87;4.9;4.81;4.73;3.5	4.09	2.92	0.33932	.	0.844242	0.10180	N	0.705965	T	0.03011	0.0089	N	0.02802	-0.49	0.35398	D	0.791359	B;B;B;B;B	0.09022	0.002;0.0;0.0;0.001;0.0	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.002;0.001	T	0.39099	-0.9630	10	0.19147	T	0.46	-9.1372	9.8622	0.41120	0.0:0.0826:0.0:0.9174	.	645;785;828;782;826	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	G	90;826;782;785;828;112;645	ENSP00000318687:E826G;ENSP00000369768:E782G;ENSP00000369769:E785G;ENSP00000396090:E828G;ENSP00000388778:E645G	ENSP00000318687:E826G	E	-	2	0	HSPH1	30609555	0.995000	0.38212	0.265000	0.24526	0.991000	0.79684	2.581000	0.46077	0.925000	0.37094	0.460000	0.39030	GAA		0.363	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1			19	47	0	0	0	0	19	47				
CPB2	1361	broad.mit.edu	37	13	46661882	46661882	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr13:46661882C>A	ENST00000181383.4	-	2	164	c.148G>T	c.(148-150)Gag>Tag	p.E50*	CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.E50*|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	50					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		GAAATTACCTCATATGTTGTA	0.378																																						uc001vaw.2		NA																	0				ovary(1)|skin(1)	2						c.(148-150)GAG>TAG		plasma carboxypeptidase B2 isoform a							83.0	91.0	88.0					13																	46661882		2203	4300	6503	SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46661882C>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.148G>T	13.37:g.46661882C>A	ENSP00000181383:p.Glu50*					uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.E50*	p.E50*	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	2	215	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	50					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.148G>T	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568673	0.45798	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.78	3.14	0.36123	.	0.097598	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	6.1968	0.20553	0.0:0.6828:0.1527:0.1644	.	.	.	.	X	50	.	ENSP00000181383:E50X	E	-	1	0	CPB2	45559883	0.549000	0.26481	0.395000	0.26283	0.171000	0.22731	0.777000	0.26718	0.378000	0.24764	-0.251000	0.11542	GAG		0.378	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		28	37	1	0	2.61e-14	5.52e-14	28	37				
TEP1	7011	broad.mit.edu	37	14	20874489	20874489	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:20874489C>T	ENST00000262715.5	-	3	678	c.638G>A	c.(637-639)gGa>gAa	p.G213E	TEP1_ENST00000556935.1_Missense_Mutation_p.G213E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	213					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTCCTCCTCTCCCAAGCTCAG	0.502																																						uc001vxe.2		NA																	0				ovary(5)	5						c.(637-639)GGA>GAA		telomerase-associated protein 1							116.0	103.0	107.0					14																	20874489		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20874489C>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.638G>A	14.37:g.20874489C>T	ENSP00000262715:p.Gly213Glu					TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.G213E	p.G213E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	678	-	all_cancers(95;0.00123)	all_lung(585;0.235)	213					A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.638G>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887530	0.33348	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.50548	1.03;0.74	4.86	4.86	0.63082	.	0.237267	0.30101	N	0.010414	T	0.58538	0.2129	L	0.55481	1.735	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.68943	0.961;0.916	T	0.49370	-0.8947	10	0.12766	T	0.61	-14.0291	13.6425	0.62260	0.0:1.0:0.0:0.0	.	213;213	G3V5X7;Q99973	.;TEP1_HUMAN	E	213	ENSP00000262715:G213E;ENSP00000452574:G213E	ENSP00000262715:G213E	G	-	2	0	TEP1	19944329	0.328000	0.24687	1.000000	0.80357	0.565000	0.35776	-0.052000	0.11865	2.668000	0.90789	0.655000	0.94253	GGA		0.502	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		25	82	0	0	0	0	25	82				
CPNE6	9362	broad.mit.edu	37	14	24543809	24543809	+	Missense_Mutation	SNP	G	G	C	rs555234339	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:24543809G>C	ENST00000397016.2	+	7	879	c.568G>C	c.(568-570)Gtc>Ctc	p.V190L	CPNE6_ENST00000216775.2_Missense_Mutation_p.V190L|CPNE6_ENST00000537691.1_Missense_Mutation_p.V245L	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	190	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TGATCAGCTGGTCTGGAGAAC	0.517																																						uc001wll.2		NA																	0				skin(2)|ovary(1)	3						c.(568-570)GTC>CTC		copine 6							96.0	98.0	97.0					14																	24543809		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24543809G>C	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.568G>C	14.37:g.24543809G>C	ENSP00000380211:p.Val190Leu					CPNE6_uc010tnv.1_Missense_Mutation_p.V245L|CPNE6_uc001wlm.2_Missense_Mutation_p.V15L|CPNE6_uc001wln.2_5'Flank	p.V190L	NM_006032	NP_006023	O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	6	667	+			190			C2 2.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.568G>C	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757493	0.49468	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.39997	1.05;1.05;1.05	5.19	5.19	0.71726	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.49916	D	0.000122	T	0.52175	0.1718	M	0.63843	1.955	0.46823	D	0.999215	P;P	0.45396	0.46;0.857	B;P	0.48982	0.395;0.597	T	0.56768	-0.7924	10	0.72032	D	0.01	-17.3453	16.2033	0.82103	0.0:0.0:1.0:0.0	.	245;190	F5GXN1;O95741	.;CPNE6_HUMAN	L	245;190;190	ENSP00000440077:V245L;ENSP00000380211:V190L;ENSP00000216775:V190L	ENSP00000216775:V190L	V	+	1	0	CPNE6	23613649	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.331000	0.96430	2.435000	0.82474	0.313000	0.20887	GTC		0.517	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			8	60	0	0	0	0	8	60				
SYT16	83851	broad.mit.edu	37	14	62547693	62547693	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:62547693G>C	ENST00000430451.2	+	4	1332	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_3'UTR	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	379	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGGCCTCCCAGATAAGGACCG	0.537																																						uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.(1135-1137)GAT>CAT		synaptotagmin XIV-like							36.0	38.0	38.0					14																	62547693		2103	4233	6336	SO:0001583	missense	83851							g.chr14:62547693G>C	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1135G>C	14.37:g.62547693G>C	ENSP00000394700:p.Asp379His					SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	p.D379H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1332	+			379			C2 1.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1135G>C	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134278	0.77662	.	.	ENSG00000139973	ENST00000430451	T	0.69561	-0.41	5.27	5.27	0.74061	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.098275	0.64402	D	0.000002	T	0.80481	0.4631	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.80910	-0.1171	10	0.59425	D	0.04	-23.8576	19.0978	0.93260	0.0:0.0:1.0:0.0	.	379	Q17RD7	SYT16_HUMAN	H	379	ENSP00000394700:D379H	ENSP00000394700:D379H	D	+	1	0	SYT16	61617446	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.729000	0.84864	2.735000	0.93741	0.655000	0.94253	GAT		0.537	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		5	18	0	0	0	0	5	18				
AHSA1	10598	broad.mit.edu	37	14	77929012	77929012	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:77929012C>T	ENST00000216479.3	+	4	542	c.382C>T	c.(382-384)Cct>Tct	p.P128S	AHSA1_ENST00000555457.1_Intron|AHSA1_ENST00000535854.2_Missense_Mutation_p.P128S	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	128					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGATGAGCCTGACACAAA	0.463																																						uc001xtw.2		NA																	0					0						c.(382-384)CCT>TCT		activator of heat shock 90kDa protein ATPase							126.0	117.0	120.0					14																	77929012		2203	4300	6503	SO:0001583	missense	10598				protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding	g.chr14:77929012C>T	AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.382C>T	14.37:g.77929012C>T	ENSP00000216479:p.Pro128Ser					AHSA1_uc010tvk.1_Missense_Mutation_p.P128S	p.P128S	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	542	+			128					B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	ENST00000216479.3	37	c.382C>T	CCDS9863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.523894|2.523894	0.44866|0.44866	.|.	.|.	ENSG00000100591|ENSG00000100591	ENST00000553374;ENST00000555729|ENST00000216479;ENST00000535854	.|.	.|.	.|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Activator of Hsp90 ATPase, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73705|0.73705	0.3621|0.3621	L|L	0.53780|0.53780	1.695|1.695	0.80722|0.80722	D|D	1|1	.|B;D	.|0.89917	.|0.283;1.0	.|B;D	.|0.73708	.|0.326;0.981	T|T	0.65923|0.65923	-0.6050|-0.6050	5|9	.|0.09590	.|T	.|0.72	-10.9725|-10.9725	19.6154|19.6154	0.95632|0.95632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|128;128	.|B4DUR9;O95433	.|.;AHSA1_HUMAN	V|S	73;46|128	.|.	.|ENSP00000216479:P128S	A|P	+|+	2|1	0|0	AHSA1|AHSA1	76998765|76998765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.368000|7.368000	0.79567|0.79567	2.629000|2.629000	0.89072|0.89072	0.557000|0.557000	0.71058|0.71058	GCC|CCT		0.463	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111		19	63	0	0	0	0	19	63				
GALC	2581	broad.mit.edu	37	14	88401201	88401201	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:88401201G>C	ENST00000261304.2	-	17	2039	c.1933C>G	c.(1933-1935)Ctg>Gtg	p.L645V	GALC_ENST00000544807.2_Intron|GALC_ENST00000393569.2_Missense_Mutation_p.L619V|GALC_ENST00000393568.4_Missense_Mutation_p.L622V	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	645			L -> R (in GLD; adult).		carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTCATTCAGCATGCCAGAG	0.428																																						uc001xvt.2		NA																	0					0						c.(1933-1935)CTG>GTG		galactosylceramidase isoform a precursor							79.0	75.0	76.0					14																	88401201		1889	4122	6011	SO:0001583	missense	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88401201G>C	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1933C>G	14.37:g.88401201G>C	ENSP00000261304:p.Leu645Val					GALC_uc010tvw.1_Intron|GALC_uc010tvx.1_Missense_Mutation_p.L619V|GALC_uc010tvy.1_Missense_Mutation_p.L622V|GALC_uc010tvz.1_Intron	p.L645V	NM_000153	NP_000144	P54803	GALC_HUMAN			17	2332	-			645		L -> R (in GLD; adult).			B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Missense_Mutation	SNP	ENST00000261304.2	37	c.1933C>G	CCDS9878.2	.	.	.	.	.	.	.	.	.	.	G	8.429	0.848087	0.17034	.	.	ENSG00000054983	ENST00000261304;ENST00000393569;ENST00000539620;ENST00000393568	D;D;D	0.95001	-3.58;-3.58;-3.58	5.6	-5.29	0.02747	.	0.000000	0.85682	D	0.000000	D	0.93255	0.7851	L	0.58510	1.815	0.36267	D	0.854931	P;P;B	0.49635	0.926;0.647;0.357	P;B;B	0.53593	0.73;0.16;0.115	D	0.91048	0.4876	10	0.14252	T	0.57	-18.0192	16.5538	0.84479	0.3675:0.0:0.6325:0.0	.	622;619;645	E7EPA4;P54803-4;P54803	.;.;GALC_HUMAN	V	645;619;434;622	ENSP00000261304:L645V;ENSP00000377199:L619V;ENSP00000377198:L622V	ENSP00000261304:L645V	L	-	1	2	GALC	87470954	0.005000	0.15991	0.095000	0.20976	0.294000	0.27393	-0.180000	0.09754	-0.934000	0.03733	-0.312000	0.09012	CTG		0.428	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2			10	30	0	0	0	0	10	30				
TTC7B	145567	broad.mit.edu	37	14	91084371	91084371	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:91084371C>T	ENST00000328459.6	-	16	1891	c.1770G>A	c.(1768-1770)gtG>gtA	p.V590V	TTC7B_ENST00000357056.2_Silent_p.V590V|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	590										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				ACTGCAACTTCACTTTGGAAA	0.542																																						uc001xyp.2		NA																	0				ovary(2)	2						c.(1768-1770)GTG>GTA		tetratricopeptide repeat domain 7B							78.0	75.0	76.0					14																	91084371		2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91084371C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1770G>A	14.37:g.91084371C>T						TTC7B_uc001xyo.2_Silent_p.V17V|TTC7B_uc010ats.2_RNA	p.V590V	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			16	1892	-		Melanoma(154;0.222)	590					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.1770G>A	CCDS32140.1																																																																																				0.542	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			19	38	0	0	0	0	19	38				
RIN3	79890	broad.mit.edu	37	14	93125658	93125658	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:93125658C>G	ENST00000216487.7	+	7	2338	c.2179C>G	c.(2179-2181)Cta>Gta	p.L727V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	727	Interaction with RAB5B.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CACCACTGACCTAGGTGTGAC	0.552																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(2179-2181)CTA>GTA		Ras and Rab interactor 3							145.0	116.0	126.0					14																	93125658		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93125658C>G	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2179C>G	14.37:g.93125658C>G	ENSP00000216487:p.Leu727Val					RIN3_uc010auk.2_Missense_Mutation_p.L389V|RIN3_uc001yaq.2_Missense_Mutation_p.L652V|RIN3_uc001yar.1_Missense_Mutation_p.L389V|RIN3_uc001yas.1_Missense_Mutation_p.L389V	p.L727V	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			7	2331	+		all_cancers(154;0.0701)	727			Interaction with RAB5B.|VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2179C>G	CCDS32144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.05|16.05	3.013629|3.013629	0.54468|0.54468	.|.	.|.	ENSG00000100599|ENSG00000100599	ENST00000216487;ENST00000428147|ENST00000556418	T|.	0.50548|.	0.74|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Vacuolar sorting protein 9 (1);|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.74465|0.74465	0.3720|0.3720	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.996;0.991;1.0|.	D;P;P;D|.	0.87578|.	0.998;0.869;0.869;0.997|.	T|T	0.74163|0.74163	-0.3754|-0.3754	10|5	0.72032|.	D|.	0.01|.	-20.5059|-20.5059	14.2865|14.2865	0.66249|0.66249	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	727;773;652;727|.	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24|.	.;.;.;RIN3_HUMAN|.	V|R	727;651|243	ENSP00000216487:L727V|.	ENSP00000216487:L727V|.	L|P	+|+	1|2	2|0	RIN3|RIN3	92195411|92195411	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.379000|0.379000	0.30106|0.30106	1.412000|1.412000	0.34714|0.34714	2.764000|2.764000	0.94973|0.94973	0.555000|0.555000	0.69702|0.69702	CTA|CCT		0.552	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			33	102	0	0	0	0	33	102				
AHNAK2	113146	broad.mit.edu	37	14	105410214	105410214	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr14:105410214G>A	ENST00000333244.5	-	7	11693	c.11574C>T	c.(11572-11574)gcC>gcT	p.A3858A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3858						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTCAGGTCGGCAGAATGGG	0.632																																						uc010axc.1		NA																	0				ovary(1)	1						c.(11572-11574)GCC>GCT		AHNAK nucleoprotein 2							138.0	144.0	142.0					14																	105410214		1988	4156	6144	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105410214G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11574C>T	14.37:g.105410214G>A						AHNAK2_uc001ypx.2_Silent_p.A3758A	p.A3858A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11694	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3858					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11574C>T	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		60	193	0	0	0	0	60	193				
NIPA1	123606	broad.mit.edu	37	15	23049038	23049038	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23049038C>A	ENST00000337435.4	-	5	805	c.781G>T	c.(781-783)Ggg>Tgg	p.G261W	NIPA1_ENST00000437912.2_Missense_Mutation_p.G186W|NIPA1_ENST00000538684.1_Missense_Mutation_p.G91W|NIPA1_ENST00000561183.1_Missense_Mutation_p.G186W	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	261					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TAGATGGCCCCGAACACCGAG	0.607																																						uc001yvc.2		NA																	0					0						c.(781-783)GGG>TGG		non-imprinted in Prader-Willi/Angelman syndrome							121.0	87.0	98.0					15																	23049038		2203	4300	6503	SO:0001583	missense	123606				cell death	early endosome|integral to membrane|plasma membrane		g.chr15:23049038C>A	BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.781G>T	15.37:g.23049038C>A	ENSP00000337452:p.Gly261Trp					NIPA1_uc001yvd.2_Missense_Mutation_p.G91W|NIPA1_uc001yve.2_Missense_Mutation_p.G186W	p.G261W	NM_144599	NP_653200	Q7RTP0	NIPA1_HUMAN		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)	5	806	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	261			Helical; (Potential).		B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Missense_Mutation	SNP	ENST00000337435.4	37	c.781G>T	CCDS10011.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376772	0.82682	.	.	ENSG00000170113	ENST00000337435;ENST00000437912;ENST00000538684	D;D;D	0.90261	-2.64;-2.64;-2.64	5.64	5.64	0.86602	.	0.155891	0.64402	D	0.000019	D	0.91637	0.7357	L	0.29908	0.895	0.54753	D	0.999986	D	0.89917	1.0	D	0.72982	0.979	D	0.91952	0.5572	10	0.66056	D	0.02	-18.0702	12.9657	0.58483	0.0:0.9261:0.0:0.0739	.	261	Q7RTP0	NIPA1_HUMAN	W	261;186;91	ENSP00000337452:G261W;ENSP00000393962:G186W;ENSP00000440957:G91W	ENSP00000337452:G261W	G	-	1	0	NIPA1	20600479	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.025000	0.70864	2.675000	0.91044	0.591000	0.81541	GGG		0.607	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2	NM_144599		12	21	1	0	0.00010058	0.000174776	12	21				
MKRN3	7681	broad.mit.edu	37	15	23811310	23811310	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:23811310C>G	ENST00000314520.3	+	1	857	c.381C>G	c.(379-381)gcC>gcG	p.A127A	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron|RP11-73C9.1_ENST00000563044.1_RNA	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	127					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGAAGATGGCCACTGAGGGTG	0.607																																						uc001ywh.3		NA																	0				lung(6)|large_intestine(2)|ovary(2)	10						c.(379-381)GCC>GCG		makorin ring finger protein 3							49.0	52.0	51.0					15																	23811310		2203	4300	6503	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811310C>G	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.381C>G	15.37:g.23811310C>G						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.A127A	p.A127A	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	857	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	127						Silent	SNP	ENST00000314520.3	37	c.381C>G	CCDS10013.1																																																																																				0.607	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		23	34	0	0	0	0	23	34				
GABRA5	2558	broad.mit.edu	37	15	27185148	27185148	+	Silent	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:27185148C>G	ENST00000335625.5	+	9	1689	c.801C>G	c.(799-801)ccC>ccG	p.P267P	GABRA5_ENST00000400081.3_Silent_p.P267P|GABRB3_ENST00000541819.2_5'Flank|GABRA5_ENST00000355395.5_Silent_p.P267P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	267					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCTACCTTCCCTGCATAATGA	0.493																																						uc001zbd.1		NA																	0				ovary(1)	1						c.(799-801)CCC>CCG		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						131.0	128.0	129.0					15																	27185148		2005	4178	6183	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27185148C>G		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.801C>G	15.37:g.27185148C>G						GABRB3_uc001zbb.2_5'Flank	p.P267P	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	10	1140	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	267			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.801C>G	CCDS45194.1																																																																																				0.493	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			11	16	0	0	0	0	11	16				
MTMR10	54893	broad.mit.edu	37	15	31253125	31253125	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:31253125C>A	ENST00000435680.1	-	7	814	c.717G>T	c.(715-717)tgG>tgT	p.W239C	MTMR10_ENST00000425768.1_Missense_Mutation_p.G209V|MTMR10_ENST00000563714.1_Missense_Mutation_p.W157C|MTMR10_ENST00000314404.8_5'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	239	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AACAAACTCTCCACCCGGAAG	0.433																																						uc001zfh.1		NA																	0				ovary(1)	1						c.(715-717)TGG>TGT		myotubularin related protein 10							105.0	100.0	101.0					15																	31253125		1896	4122	6018	SO:0001583	missense	54893						phosphatase activity	g.chr15:31253125C>A	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.717G>T	15.37:g.31253125C>A	ENSP00000402537:p.Trp239Cys					MTMR10_uc010azx.1_5'UTR|MTMR10_uc001zfi.1_5'UTR|MTMR10_uc001zfj.2_Missense_Mutation_p.W157C|MTMR10_uc001zfk.2_5'UTR|MTMR10_uc010ubl.1_RNA	p.W239C	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	7	815	-		all_lung(180;2.81e-11)	239			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.717G>T	CCDS45204.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.157043|4.157043	0.78114|0.78114	.|.	.|.	ENSG00000166912|ENSG00000166912	ENST00000425768|ENST00000435680;ENST00000340566	T|D	0.57273|0.95412	0.41|-3.7	5.05|5.05	5.05|5.05	0.67936|0.67936	.|Myotubularin phosphatase domain (1);	.|0.056145	.|0.85682	.|D	.|0.000000	D|D	0.98375|0.98375	0.9460|0.9460	M|M	0.93678|0.93678	3.445|3.445	0.58432|0.58432	D|D	0.999995|0.999995	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	D|D	0.99694|0.99694	1.1002|1.1002	7|10	0.87932|0.87932	D|D	0|0	.|.	18.4152|18.4152	0.90567|0.90567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|157;239	.|Q9NXD2-2;Q9NXD2	.|.;MTMRA_HUMAN	V|C	209|239;157	ENSP00000412314:G209V|ENSP00000402537:W239C	ENSP00000412314:G209V|ENSP00000340637:W157C	G|W	-|-	2|3	0|0	MTMR10|MTMR10	29040417|29040417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.980000|6.980000	0.76160|0.76160	2.344000|2.344000	0.79699|0.79699	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.433	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		7	15	1	0	1.13e-05	2.02e-05	7	15				
CHRNA7	1139	broad.mit.edu	37	15	32460234	32460234	+	Missense_Mutation	SNP	C	C	T	rs201538174		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:32460234C>T	ENST00000306901.3	+	10	1181	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	CHRNA7_ENST00000455693.2_Missense_Mutation_p.R181W|CHRNA7_ENST00000454250.3_Missense_Mutation_p.R391W	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	362					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCACAAGCAGCGGCGCTGCAG	0.687																																					Esophageal Squamous(193;529 2900 40232 43193)	uc001zft.2		NA																	0				ovary(1)	1						c.(1084-1086)CGG>TGG		cholinergic receptor, nicotinic, alpha 7	Nicotine(DB00184)|Varenicline(DB01273)						33.0	40.0	37.0					15																	32460234		2198	4296	6494	SO:0001583	missense	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32460234C>T	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.1084C>T	15.37:g.32460234C>T	ENSP00000303727:p.Arg362Trp					uc001zfv.1_Intron|CHRNA7_uc010baf.2_Missense_Mutation_p.R181W|CHRNA7_uc010bak.2_Missense_Mutation_p.R277W	p.R362W	NM_000746	NP_000737	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	10	1156	+		all_lung(180;6.35e-11)	362			Cytoplasmic (Potential).		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Missense_Mutation	SNP	ENST00000306901.3	37	c.1084C>T	CCDS10027.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.395058	0.83011	.	.	ENSG00000175344	ENST00000437966;ENST00000454250;ENST00000306901;ENST00000455693	T;T;T	0.25579	1.79;1.79;1.79	3.84	2.89	0.33648	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.347527	0.35151	N	0.003401	T	0.45074	0.1324	M	0.81239	2.535	0.52501	D	0.999959	D;P	0.65815	0.995;0.941	P;P	0.58970	0.849;0.697	T	0.48198	-0.9056	10	0.52906	T	0.07	.	10.8537	0.46786	0.1898:0.8102:0.0:0.0	.	391;362	B4DFS0;P36544	.;ACHA7_HUMAN	W	272;391;362;181	ENSP00000407546:R391W;ENSP00000303727:R362W;ENSP00000405989:R181W	ENSP00000303727:R362W	R	+	1	2	CHRNA7	30247526	1.000000	0.71417	0.994000	0.49952	0.900000	0.52787	7.224000	0.78042	1.154000	0.42482	0.650000	0.86243	CGG		0.687	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			17	43	0	0	0	0	17	43				
NUTM1	256646	broad.mit.edu	37	15	34646693	34646693	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:34646693G>C	ENST00000333756.4	+	5	1193	c.1038G>C	c.(1036-1038)cgG>cgC	p.R346R	NUTM1_ENST00000537011.1_Silent_p.R374R|NUTM1_ENST00000438749.3_Silent_p.R364R	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	346						cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCCCCCGCCGGCGTCAGCGTA	0.557																																						uc001zif.2		NA								T					BRD3|BRD4		lethal midline carcinoma	BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	0				midline_organs(25)|ovary(2)|lung(2)|skin(1)	30						c.(1036-1038)CGG>CGC		nuclear protein in testis							84.0	90.0	88.0					15																	34646693		2201	4298	6499	SO:0001819	synonymous_variant	256646					cytoplasm|nucleus		g.chr15:34646693G>C	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.1038G>C	15.37:g.34646693G>C						C15orf55_uc010ucc.1_Silent_p.R374R|C15orf55_uc010ucd.1_Silent_p.R364R	p.R346R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)	5	1193	+		all_lung(180;2.78e-08)	346					B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.1038G>C	CCDS32190.1																																																																																				0.557	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		23	62	0	0	0	0	23	62				
LCMT2	9836	broad.mit.edu	37	15	43621835	43621835	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43621835G>A	ENST00000305641.5	-	1	968	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_Missense_Mutation_p.P34L|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	285					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCCACCCGCCGGCGTTCTTCT	0.557																																						uc001zrg.2		NA																	0					0						c.(853-855)CGG>TGG		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						39.0	45.0	43.0					15																	43621835		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621835G>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.853C>T	15.37:g.43621835G>A	ENSP00000307214:p.Arg285Trp					LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.R285W	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1057	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	285					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.853C>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.511359	0.44660	.	.	ENSG00000168806	ENST00000305641	T	0.23754	1.89	5.39	-0.133	0.13485	.	1.010830	0.07930	N	0.977323	T	0.28499	0.0705	M	0.73217	2.22	0.80722	D	1	D	0.62365	0.991	B	0.44315	0.446	T	0.43426	-0.9392	10	0.72032	D	0.01	-17.5765	4.6944	0.12797	0.1631:0.0:0.4038:0.4332	.	285	O60294	LCMT2_HUMAN	W	285	ENSP00000307214:R285W	ENSP00000307214:R285W	R	-	1	2	LCMT2	41409127	0.007000	0.16637	0.083000	0.20561	0.977000	0.68977	0.298000	0.19120	0.095000	0.17434	0.655000	0.94253	CGG		0.557	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		14	34	0	0	0	0	14	34				
CATSPER2	117155	broad.mit.edu	37	15	43928002	43928002	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:43928002C>A	ENST00000321596.5	-	9	1243	c.1044G>T	c.(1042-1044)agG>agT	p.R348S	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.R348S|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Missense_Mutation_p.R348S|CATSPER2_ENST00000396879.1_Missense_Mutation_p.R348S|CATSPER2_ENST00000381761.1_Missense_Mutation_p.R354S			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	348					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAGCTCTTTCCTGATATTCT	0.512																																						uc001zsh.2		NA																	0				ovary(1)	1						c.(1042-1044)AGG>AGT		sperm-associated cation channel 2 isoform 2							61.0	58.0	59.0					15																	43928002		2199	4297	6496	SO:0001583	missense	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43928002C>A	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1044G>T	15.37:g.43928002C>A	ENSP00000321463:p.Arg348Ser					CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.R348S|CATSPER2_uc001zsj.2_Missense_Mutation_p.R348S	p.R348S	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	9	1259	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	348			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	c.1044G>T	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800697	0.70567	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6	4.62	3.69	0.42338	.	0.194440	0.38897	N	0.001540	D	0.96898	0.8987	L	0.36672	1.1	0.32166	N	0.582289	D;D	0.71674	0.998;0.997	D;P	0.65233	0.933;0.869	D	0.95995	0.8989	10	0.66056	D	0.02	.	7.6937	0.28581	0.0:0.8829:0.0:0.1171	.	354;348	F8W9H2;Q96P56	.;CTSR2_HUMAN	S	348;348;354;348;348;348	ENSP00000380088:R348S;ENSP00000371180:R354S;ENSP00000321463:R348S;ENSP00000339137:R348S;ENSP00000347613:R348S	ENSP00000299989:R348S	R	-	3	2	CATSPER2	41715294	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.214000	0.32419	1.127000	0.42034	0.655000	0.94253	AGG		0.512	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020		13	20	1	0	0.00244969	0.0039565	13	20				
TEX9	374618	broad.mit.edu	37	15	56683602	56683602	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:56683602A>T	ENST00000352903.2	+	7	581	c.557A>T	c.(556-558)aAt>aTt	p.N186I	TEX9_ENST00000558083.2_Missense_Mutation_p.N111I|TEX9_ENST00000537232.1_Missense_Mutation_p.N111I|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000561221.2_Missense_Mutation_p.N186I	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	186										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GGTGTTAGTAATGACATTGGA	0.313																																						uc002adp.2		NA																	0					0						c.(556-558)AAT>ATT		testis expressed 9							94.0	95.0	95.0					15																	56683602		2192	4292	6484	SO:0001583	missense	374618							g.chr15:56683602A>T	BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.557A>T	15.37:g.56683602A>T	ENSP00000342169:p.Asn186Ile					TEX9_uc002ado.1_Missense_Mutation_p.N186I|TEX9_uc010ugl.1_Missense_Mutation_p.N111I|TEX9_uc002adq.1_Missense_Mutation_p.N111I	p.N186I	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN		all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)	7	562	+			186					B4DH73	Missense_Mutation	SNP	ENST00000352903.2	37	c.557A>T	CCDS10157.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.897661	0.52121	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	.	.	.	5.77	4.62	0.57501	.	0.507355	0.23159	N	0.051265	T	0.45955	0.1368	L	0.29908	0.895	0.80722	D	1	B;B	0.32203	0.36;0.36	B;B	0.33799	0.17;0.17	T	0.38243	-0.9670	9	0.44086	T	0.13	-1.1441	11.1815	0.48631	0.8457:0.1543:0.0:0.0	.	111;186	B4DH73;Q8N6V9	.;TEX9_HUMAN	I	186;111	.	ENSP00000342169:N186I	N	+	2	0	TEX9	54470894	0.971000	0.33674	0.936000	0.37596	0.916000	0.54674	3.076000	0.50081	0.982000	0.38575	0.477000	0.44152	AAT		0.313	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255048.2	NM_198524		11	27	0	0	0	0	11	27				
VPS13C	54832	broad.mit.edu	37	15	62242607	62242607	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:62242607C>A	ENST00000261517.5	-	41	4619	c.4546G>T	c.(4546-4548)Gat>Tat	p.D1516Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1473Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1516Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTGGTCCATCACTGTCTGCC	0.313																																						uc002agz.2		NA																	0				ovary(2)	2						c.(4546-4548)GAT>TAT		vacuolar protein sorting 13C protein isoform 2A							96.0	92.0	93.0					15																	62242607		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62242607C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4546G>T	15.37:g.62242607C>A	ENSP00000261517:p.Asp1516Tyr					VPS13C_uc002aha.2_Missense_Mutation_p.D1473Y|VPS13C_uc002ahb.1_Missense_Mutation_p.D1516Y|VPS13C_uc002ahc.1_Missense_Mutation_p.D1473Y	p.D1516Y	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			41	4620	-			1516						Missense_Mutation	SNP	ENST00000261517.5	37	c.4546G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160186	0.57368	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.26518	1.73;1.73;1.73	4.63	4.63	0.57726	.	0.346384	0.30547	N	0.009399	T	0.21267	0.0512	N	0.22421	0.69	0.43714	D	0.996185	P;P;P;D	0.55385	0.808;0.808;0.663;0.971	P;P;B;P	0.46758	0.477;0.477;0.357;0.526	T	0.01512	-1.1336	10	0.72032	D	0.01	.	10.1628	0.42862	0.0:0.9059:0.0:0.0941	.	1473;1516;1473;1516	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	1473;1516;1516;1516	ENSP00000249837:D1473Y;ENSP00000261517:D1516Y;ENSP00000379233:D1516Y	ENSP00000249837:D1473Y	D	-	1	0	VPS13C	60029899	0.462000	0.25791	1.000000	0.80357	0.990000	0.78478	0.859000	0.27858	2.280000	0.76307	0.467000	0.42956	GAT		0.313	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	15	1	0	0.000602214	0.00100113	5	15				
MEGF11	84465	broad.mit.edu	37	15	66249955	66249955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:66249955G>T	ENST00000409699.2	-	10	1389	c.1217C>A	c.(1216-1218)cCt>cAt	p.P406H	MEGF11_ENST00000422354.1_Missense_Mutation_p.P406H|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.P331H|MEGF11_ENST00000360698.4_Missense_Mutation_p.P406H|MEGF11_ENST00000288745.3_Missense_Mutation_p.P331H			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	406	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						ACAGGTGCAAGGCAGCTGGCA	0.612																																						uc002apm.2		NA																	0				pancreas(1)	1						c.(1216-1218)CCT>CAT		multiple EGF-like-domains 11 precursor							51.0	42.0	45.0					15																	66249955		2201	4299	6500	SO:0001583	missense	84465					basolateral plasma membrane|integral to membrane		g.chr15:66249955G>T	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1217C>A	15.37:g.66249955G>T	ENSP00000386908:p.Pro406His					MEGF11_uc002apl.2_Missense_Mutation_p.P331H|MEGF11_uc002apn.1_Missense_Mutation_p.P406H	p.P406H	NM_032445	NP_115821	A6BM72	MEG11_HUMAN			10	1358	-			406			EGF-like 7.		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	37	c.1217C>A	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.664791	0.47572	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.53640	1.32;1.32;1.32;1.32;0.61;0.61	4.87	3.9	0.45041	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.685094	0.11872	U	0.521319	T	0.50837	0.1639	L	0.33339	1.005	0.34378	D	0.692796	B;B	0.33171	0.4;0.024	P;B	0.51657	0.676;0.042	T	0.57648	-0.7775	10	0.33141	T	0.24	.	7.9366	0.29933	0.0846:0.0:0.7556:0.1599	.	406;331	A6BM72;A6BM72-2	MEG11_HUMAN;.	H	406;331;406;331;406;110	ENSP00000386908:P406H;ENSP00000288745:P331H;ENSP00000414475:P406H;ENSP00000378987:P331H;ENSP00000353919:P406H;ENSP00000401400:P110H	ENSP00000288745:P331H	P	-	2	0	MEGF11	64037009	0.981000	0.34729	0.999000	0.59377	0.730000	0.41778	2.193000	0.42658	2.420000	0.82092	0.561000	0.74099	CCT		0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		9	19	1	0	1.13e-05	2.02e-05	9	19				
PEAK1	79834	broad.mit.edu	37	15	77425541	77425541	+	Missense_Mutation	SNP	T	T	A	rs377534094		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:77425541T>A	ENST00000560626.2	-	6	4358	c.3883A>T	c.(3883-3885)Aca>Tca	p.T1295S	PEAK1_ENST00000312493.4_Missense_Mutation_p.T1295S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1295					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										AAGGCATCTGTATGAAGGCTT	0.507																																						uc002bcm.2		NA																	0					0						c.(3883-3885)ACA>TCA		NKF3 kinase family member							152.0	150.0	150.0					15																	77425541		1897	4116	6013	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77425541T>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3883A>T	15.37:g.77425541T>A	ENSP00000452796:p.Thr1295Ser						p.T1295S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	5	4191	-			1295					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.3883A>T	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480649	0.44044	.	.	ENSG00000173517	ENST00000312493	T	0.27104	1.69	5.41	4.27	0.50696	.	0.059869	0.64402	D	0.000004	T	0.16896	0.0406	L	0.27053	0.805	0.29434	N	0.859624	B	0.24721	0.11	B	0.16722	0.016	T	0.08994	-1.0695	10	0.62326	D	0.03	-6.2703	8.8035	0.34923	0.0:0.2087:0.0:0.7913	.	1295	Q9H792	PEAK1_HUMAN	S	1295	ENSP00000309230:T1295S	ENSP00000309230:T1295S	T	-	1	0	AC087465.1	75212596	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.112000	0.31172	2.050000	0.60909	0.533000	0.62120	ACA		0.507	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			41	110	0	0	0	0	41	110				
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:88669548G>A	ENST00000360948.2	-	12	1511	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_ENST00000542733.2_Silent_p.F352F|NTRK3_ENST00000357724.2_Silent_p.F442F|NTRK3_ENST00000540489.2_Silent_p.F450F|NTRK3_ENST00000558676.1_Silent_p.F442F|NTRK3_ENST00000394480.2_Silent_p.F450F|NTRK3_ENST00000317501.3_Silent_p.F450F|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000557856.1_Silent_p.F442F|NTRK3_ENST00000355254.2_Silent_p.F450F	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1348-1350)TTC>TTT		neurotrophic tyrosine kinase, receptor, type 3							123.0	106.0	112.0					15																	88669548		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88669548G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1350C>T	15.37:g.88669548G>A		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.F442F|NTRK3_uc002bmf.1_Silent_p.F450F|NTRK3_uc010upl.1_Silent_p.F352F|NTRK3_uc010bnh.1_Silent_p.F442F|NTRK3_uc002bmg.2_Silent_p.F450F	p.F450F	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		12	1512	-			450			Helical; (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.1350C>T	CCDS32322.1																																																																																				0.453	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				12	27	0	0	0	0	12	27				
IGF1R	3480	broad.mit.edu	37	15	99251053	99251053	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr15:99251053C>A	ENST00000268035.6	+	2	968	c.357C>A	c.(355-357)atC>atA	p.I119I	IGF1R_ENST00000558762.1_Silent_p.I119I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	119					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCCTGGTCATCTTCGAGATGA	0.532																																						uc002bul.2		NA																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(355-357)ATC>ATA		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						61.0	55.0	57.0					15																	99251053		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251053C>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.357C>A	15.37:g.99251053C>A						IGF1R_uc010urq.1_Silent_p.I119I|IGF1R_uc010bon.2_Silent_p.I119I	p.I119I	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	407	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		119					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.357C>A	CCDS10378.1																																																																																				0.532	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		32	28	1	0	2.82e-10	5.73e-10	32	28				
ABAT	18	broad.mit.edu	37	16	8851634	8851634	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:8851634C>G	ENST00000396600.2	+	6	1275	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ABAT_ENST00000268251.8_Missense_Mutation_p.L113V|ABAT_ENST00000567812.1_Missense_Mutation_p.L128V|ABAT_ENST00000569156.1_Missense_Mutation_p.L113V|ABAT_ENST00000425191.2_Missense_Mutation_p.L113V	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	113				L -> V (in Ref. 1; AAA74449). {ECO:0000305}.	behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCCCGCCCTGCTGAAACTCAT	0.522																																						uc002czc.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(337-339)CTG>GTG		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						126.0	104.0	111.0					16																	8851634		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8851634C>G	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.337C>G	16.37:g.8851634C>G	ENSP00000379845:p.Leu113Val					ABAT_uc002czd.3_Missense_Mutation_p.L113V|ABAT_uc010buh.2_Missense_Mutation_p.L55V|ABAT_uc010bui.2_Missense_Mutation_p.L113V	p.L113V	NM_020686	NP_065737	P80404	GABT_HUMAN			6	503	+			113	L -> V (in Ref. 1; AAA74449).				A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.337C>G	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	C	4.844	0.156939	0.09236	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.85013	-1.93;-1.93;-1.93	4.96	-3.05	0.05396	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.845089	0.10669	N	0.647768	T	0.73961	0.3654	L	0.40543	1.245	0.21897	N	0.999487	B	0.06786	0.001	B	0.12837	0.008	T	0.57294	-0.7836	10	0.30854	T	0.27	-18.106	5.8116	0.18469	0.4284:0.2731:0.2985:0.0	.	113	P80404	GABT_HUMAN	V	113	ENSP00000268251:L113V;ENSP00000379845:L113V;ENSP00000411916:L113V	ENSP00000268251:L113V	L	+	1	2	ABAT	8759135	0.680000	0.27605	0.755000	0.31263	0.144000	0.21451	-0.233000	0.09041	-0.458000	0.07023	-0.311000	0.09066	CTG		0.522	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		11	43	0	0	0	0	11	43				
ANKS4B	257629	broad.mit.edu	37	16	21261971	21261971	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:21261971C>T	ENST00000311620.5	+	2	1157	c.1084C>T	c.(1084-1086)Cct>Tct	p.P362S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	362	SAM.				response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AGAATTCCTGCCTATCTTCAA	0.522																																						uc010bwp.1		NA																	0				ovary(2)	2						c.(1084-1086)CCT>TCT		harmonin-interacting ankyrin-repeat containing							97.0	103.0	101.0					16																	21261971		2009	4187	6196	SO:0001583	missense	257629							g.chr16:21261971C>T	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.1084C>T	16.37:g.21261971C>T	ENSP00000308772:p.Pro362Ser					CRYM_uc010bwq.1_Intron	p.P362S	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	1127	+			362			SAM.			Missense_Mutation	SNP	ENST00000311620.5	37	c.1084C>T	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	C	2.445	-0.327670	0.05314	.	.	ENSG00000175311	ENST00000311620	T	0.45668	0.89	5.96	5.0	0.66597	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.125962	0.56097	D	0.000040	T	0.32133	0.0819	N	0.21324	0.655	0.80722	D	1	P	0.41710	0.76	B	0.41440	0.357	T	0.04885	-1.0920	10	0.23302	T	0.38	-15.1571	14.8059	0.69956	0.0:0.7268:0.2732:0.0	.	362	Q8N8V4	ANS4B_HUMAN	S	362	ENSP00000308772:P362S	ENSP00000308772:P362S	P	+	1	0	ANKS4B	21169472	0.995000	0.38212	0.858000	0.33744	0.001000	0.01503	3.152000	0.50677	1.517000	0.48917	-0.172000	0.13284	CCT		0.522	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		17	40	0	0	0	0	17	40				
SRCAP	10847	broad.mit.edu	37	16	30745886	30745886	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:30745886G>A	ENST00000262518.4	+	31	7064	c.6679G>A	c.(6679-6681)Gaa>Aaa	p.E2227K	SRCAP_ENST00000344771.4_Missense_Mutation_p.E2069K|SRCAP_ENST00000395059.2_Missense_Mutation_p.E2165K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2227	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCTGCCCCTGAAGAGGAGGA	0.498																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(6679-6681)GAA>AAA		Snf2-related CBP activator protein							126.0	119.0	121.0					16																	30745886		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30745886G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6679G>A	16.37:g.30745886G>A	ENSP00000262518:p.Glu2227Lys					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E2022K	p.E2227K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		31	7064	+			2227			Glu-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6679G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026760	0.54683	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	T;T;T	0.07567	3.18;3.18;3.18	5.95	5.95	0.96441	.	0.346351	0.24833	N	0.035231	T	0.07052	0.0179	L	0.29908	0.895	0.28988	N	0.888236	B;B	0.30361	0.277;0.058	B;B	0.21151	0.033;0.014	T	0.13124	-1.0521	10	0.46703	T	0.11	-1.2444	12.4744	0.55805	0.0772:0.0:0.9228:0.0	.	2165;2227	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	K	2227;2165;2069	ENSP00000262518:E2227K;ENSP00000378499:E2165K;ENSP00000343042:E2069K	ENSP00000262518:E2227K	E	+	1	0	SRCAP	30653387	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	3.215000	0.51169	2.817000	0.96982	0.563000	0.77884	GAA		0.498	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		35	93	0	0	0	0	35	93				
PYDC1	260434	broad.mit.edu	37	16	31228118	31228118	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31228118T>C	ENST00000302964.3	-	1	562	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	TRIM72_ENST00000322122.3_Intron|PYDC1_ENST00000568383.1_5'Flank	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	78	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCTCCAACATGCGCATGTCG	0.662																																						uc002ebo.2		NA																	0					0						c.(232-234)ATG>GTG		pyrin domain containing 1							51.0	49.0	50.0					16																	31228118		2197	4300	6497	SO:0001583	missense	260434				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding	g.chr16:31228118T>C		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407	ENST00000302964.3:c.232A>G	16.37:g.31228118T>C	ENSP00000304336:p.Met78Val					TRIM72_uc002ebn.1_Intron	p.M78V	NM_152901	NP_690865	Q8WXC3	PYDC1_HUMAN			1	281	-			78			DAPIN.		B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.232A>G	CCDS10710.1	.	.	.	.	.	.	.	.	.	.	T	9.469	1.095097	0.20471	.	.	ENSG00000169900	ENST00000302964	T	0.47177	0.85	4.1	-1.34	0.09143	Pyrin (2);DEATH-like (2);	0.190651	0.25247	U	0.032055	T	0.24774	0.0601	.	.	.	0.09310	N	1	B	0.18310	0.027	B	0.19666	0.026	T	0.07558	-1.0766	9	0.36615	T	0.2	.	0.6729	0.00862	0.3495:0.1063:0.18:0.3642	.	78	Q8WXC3	PYDC1_HUMAN	V	78	ENSP00000304336:M78V	ENSP00000304336:M78V	M	-	1	0	PYDC1	31135619	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.042000	0.00632	-0.506000	0.06558	0.402000	0.26972	ATG		0.662	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		16	53	0	0	0	0	16	53				
ITGAM	3684	broad.mit.edu	37	16	31340609	31340609	+	Missense_Mutation	SNP	G	G	T	rs61758333	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:31340609G>T	ENST00000287497.8	+	24	2928	c.2853G>T	c.(2851-2853)atG>atT	p.M951I	ITGAM_ENST00000544665.3_Missense_Mutation_p.M952I			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	951					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCGGGTCATGCAGCATCAAT	0.502													G|||	3	0.000599042	0.0	0.0	5008	,	,		17023	0.0		0.003	False		,,,				2504	0.0					uc002ebq.2		NA																	0				kidney(1)	1						c.(2851-2853)ATG>ATT		integrin alpha M isoform 2 precursor		G	ILE/MET,ILE/MET	2,3924		0,2,1961	65.0	65.0	65.0		2856,2853	-5.5	0.0	16	dbSNP_129	65	12,8306		0,12,4147	yes	missense,missense	ITGAM	NM_001145808.1,NM_000632.3	10,10	0,14,6108	TT,TG,GG		0.1443,0.0509,0.1143	benign,benign	952/1154,951/1153	31340609	14,12230	1963	4159	6122	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31340609G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.2853G>T	16.37:g.31340609G>T	ENSP00000287497:p.Met951Ile					ITGAM_uc002ebr.2_Missense_Mutation_p.M952I|ITGAM_uc010can.2_Missense_Mutation_p.M357I	p.M951I	NM_000632	NP_000623	P11215	ITAM_HUMAN			24	2951	+			951			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.2853G>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	4.453	0.083985	0.08583	5.09E-4	0.001443	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.40476	1.03;1.03	4.96	-5.46	0.02608	Integrin alpha-2 (1);	.	.	.	.	T	0.11452	0.0279	N	0.01817	-0.705	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.22103	-1.0226	9	0.12103	T	0.63	.	2.7236	0.05207	0.5547:0.1258:0.1931:0.1265	rs61758333	951;951	Q4VAK1;P11215	.;ITAM_HUMAN	I	952;951	ENSP00000441691:M952I;ENSP00000287497:M951I	ENSP00000287497:M951I	M	+	3	0	ITGAM	31248110	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.039000	0.03550	-1.365000	0.02158	-0.907000	0.02831	ATG		0.502	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		7	16	1	0	1.07e-07	2.07e-07	7	16				
PRSS54	221191	broad.mit.edu	37	16	58325037	58325037	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58325037C>T	ENST00000219301.4	-	4	483	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	PRSS54_ENST00000567164.1_Missense_Mutation_p.C30Y|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	30						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGGACGCCACAACCTGCGGA	0.622																																						uc002enf.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(88-90)TGT>TAT		plasma kallikrein-like protein 4 precursor							50.0	43.0	45.0					16																	58325037		2198	4300	6498	SO:0001583	missense	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58325037C>T	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.89G>A	16.37:g.58325037C>T	ENSP00000219301:p.Cys30Tyr					PRSS54_uc002eng.2_Missense_Mutation_p.C30Y|PRSS54_uc010vie.1_Intron	p.C30Y	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN			4	484	-			30					Q96LN9|Q9NT77	Missense_Mutation	SNP	ENST00000219301.4	37	c.89G>A	CCDS32463.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819370	0.50633	.	.	ENSG00000103023	ENST00000219301	D	0.91894	-2.93	5.85	5.85	0.93711	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000013	D	0.93828	0.8026	L	0.36672	1.1	0.42564	D	0.993158	D	0.89917	1.0	D	0.87578	0.998	D	0.94316	0.7549	10	0.87932	D	0	-17.3156	15.6635	0.77206	0.0:1.0:0.0:0.0	.	30	Q6PEW0	PRS54_HUMAN	Y	30	ENSP00000219301:C30Y	ENSP00000219301:C30Y	C	-	2	0	PRSS54	56882538	0.998000	0.40836	0.980000	0.43619	0.053000	0.15095	3.910000	0.56371	2.773000	0.95371	0.655000	0.94253	TGT		0.622	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		11	24	0	0	0	0	11	24				
CNOT1	23019	broad.mit.edu	37	16	58568212	58568212	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:58568212G>A	ENST00000317147.5	-	40	6066	c.5734C>T	c.(5734-5736)Cgt>Tgt	p.R1912C	CNOT1_ENST00000245138.4_Missense_Mutation_p.R763C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1907C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1912					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCCTGAGCACGGTAACTGATT	0.478																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(5734-5736)CGT>TGT		CCR4-NOT transcription complex, subunit 1							148.0	106.0	120.0					16																	58568212		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58568212G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5734C>T	16.37:g.58568212G>A	ENSP00000320949:p.Arg1912Cys					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.R1907C|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Missense_Mutation_p.R869C	p.R1912C	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	40	6027	-			1912					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.5734C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286412	0.95517	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200	T	0.49139	0.79	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.982;1.0	T	0.75912	-0.3150	10	0.72032	D	0.01	.	20.1174	0.97942	0.0:0.0:1.0:0.0	.	763;1912;1907	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	C	1912;606;763;1907	ENSP00000320949:R1912C	ENSP00000245138:R763C	R	-	1	0	CNOT1	57125713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.771000	0.95319	0.591000	0.81541	CGT		0.478	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		9	37	0	0	0	0	9	37				
CTCF	10664	broad.mit.edu	37	16	67660581	67660581	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:67660581G>T	ENST00000264010.4	+	8	1925	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L	CTCF_ENST00000401394.1_Missense_Mutation_p.R166L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	494					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AATGAGAAGCGCTTTAAGTGT	0.453																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.2		NA																	0				ovary(1)	1						c.(1480-1482)CGC>CTC		CCCTC-binding factor							129.0	107.0	114.0					16																	67660581		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67660581G>T	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1481G>T	16.37:g.67660581G>T	ENSP00000264010:p.Arg494Leu					CTCF_uc010cek.2_Missense_Mutation_p.R166L|CTCF_uc002etm.1_5'Flank	p.R494L	NM_006565	NP_006556	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	8	1771	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	494					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1481G>T	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671559	0.88348	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.17213	2.29;2.29	5.38	4.43	0.53597	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.12774	0.0310	N	0.16833	0.445	0.80722	D	1	P	0.35456	0.502	B	0.36922	0.236	T	0.12016	-1.0564	10	0.39692	T	0.17	-2.7564	14.393	0.66991	0.0713:0.0:0.9286:0.0	.	494	P49711	CTCF_HUMAN	L	494;166	ENSP00000264010:R494L;ENSP00000384707:R166L	ENSP00000264010:R494L	R	+	2	0	CTCF	66218082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	1.419000	0.47118	0.561000	0.74099	CGC		0.453	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		10	38	1	0	4.69e-08	9.13e-08	10	38				
CHST6	4166	broad.mit.edu	37	16	75513529	75513529	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:75513529G>C	ENST00000332272.4	-	3	377	c.198C>G	c.(196-198)gtC>gtG	p.V66V	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.V66V	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	66			V -> L (in MCDC1). {ECO:0000269|PubMed:12882775}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TTAGGTAGAAGACGTCGGGGT	0.687																																						uc002fef.2		NA																	0					0	GRCh37	CD033185	CHST6	D		c.(196-198)GTC>GTG		carbohydrate (N-acetylglucosamine 6-O)							40.0	33.0	35.0					16																	75513529		2198	4300	6498	SO:0001819	synonymous_variant	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75513529G>C	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.198C>G	16.37:g.75513529G>C						CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.V66V	p.V66V	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	378	-			66		V -> L (in MCD).	Lumenal (Potential).		D3DUK3	Silent	SNP	ENST00000332272.4	37	c.198C>G	CCDS10918.1																																																																																				0.687	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		14	37	0	0	0	0	14	37				
ADAMTS18	170692	broad.mit.edu	37	16	77353779	77353779	+	Silent	SNP	C	C	G	rs538095477		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:77353779C>G	ENST00000282849.5	-	16	2917	c.2499G>C	c.(2497-2499)gcG>gcC	p.A833A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	833	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A833A(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGCCCTGGCGCGTACAGAC	0.542																																						uc002ffc.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(2497-2499)GCG>GCC		ADAM metallopeptidase with thrombospondin type 1							60.0	60.0	60.0					16																	77353779		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77353779C>G	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2499G>C	16.37:g.77353779C>G						ADAMTS18_uc010chc.1_Silent_p.A421A|ADAMTS18_uc002ffe.1_Silent_p.A529A	p.A833A	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			16	2918	-			833			Spacer.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.2499G>C	CCDS10926.1																																																																																				0.542	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			17	74	0	0	0	0	17	74				
CMIP	80790	broad.mit.edu	37	16	81712034	81712034	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:81712034G>C	ENST00000537098.3	+	10	1261	c.1189G>C	c.(1189-1191)Gtg>Ctg	p.V397L	CMIP_ENST00000398040.4_Missense_Mutation_p.V244L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.V303L	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	397						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						GTCGGTGGTCGTGGCCTCCAG	0.662																																						uc002fgp.2		NA																	0					0						c.(1189-1191)GTG>CTG		c-Maf-inducing protein isoform C-mip							11.0	13.0	13.0					16																	81712034		2089	4190	6279	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81712034G>C	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1189G>C	16.37:g.81712034G>C	ENSP00000446100:p.Val397Leu					CMIP_uc002fgq.1_Missense_Mutation_p.V303L|CMIP_uc010vnq.1_Missense_Mutation_p.V210L|CMIP_uc002fgr.1_Missense_Mutation_p.V244L	p.V397L	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN			10	1261	+			363					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.1189G>C	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836575	0.71373	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.10668	2.85;2.85	5.11	5.11	0.69529	.	0.133816	0.49305	D	0.000145	T	0.20251	0.0487	N	0.24115	0.695	0.58432	D	0.999997	D;D;P	0.53312	0.959;0.959;0.931	D;D;D	0.65987	0.94;0.94;0.911	T	0.04737	-1.0930	10	0.31617	T	0.26	.	18.5474	0.91052	0.0:0.0:1.0:0.0	.	244;303;397	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	L	397;303;303;210	ENSP00000446100:V397L;ENSP00000440401:V303L	ENSP00000381120:V303L	V	+	1	0	CMIP	80269535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.781000	0.91805	2.400000	0.81607	0.561000	0.74099	GTG		0.662	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		6	7	0	0	0	0	6	7				
ZC3H18	124245	broad.mit.edu	37	16	88688786	88688786	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88688786A>T	ENST00000301011.5	+	9	1857	c.1657A>T	c.(1657-1659)Aat>Tat	p.N553Y	ZC3H18_ENST00000452588.2_Missense_Mutation_p.N577Y	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	553	Ser-rich.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTCTGCCTCTAATTCCTCCAG	0.622																																					Ovarian(121;375 2276 20373 38669)	uc002fky.2		NA																	0				skin(1)	1						c.(1657-1659)AAT>TAT		zinc finger CCCH-type containing 18							60.0	50.0	53.0					16																	88688786		2198	4299	6497	SO:0001583	missense	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688786A>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1657A>T	16.37:g.88688786A>T	ENSP00000301011:p.Asn553Tyr					ZC3H18_uc010voz.1_Missense_Mutation_p.N577Y|ZC3H18_uc010chw.2_RNA	p.N553Y	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1857	+			553			Ser-rich.		Q96DG4|Q96MP7	Missense_Mutation	SNP	ENST00000301011.5	37	c.1657A>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203422	0.58234	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	T;T	0.42900	0.96;0.96	5.83	5.83	0.93111	.	0.096968	0.64402	D	0.000001	T	0.52338	0.1728	L	0.50333	1.59	0.42933	D	0.994328	D;D	0.63880	0.993;0.993	P;P	0.61132	0.884;0.884	T	0.56872	-0.7907	10	0.87932	D	0	-33.4769	9.0429	0.36329	0.8874:0.0:0.1126:0.0	.	577;553	E7ERS3;Q86VM9	.;ZCH18_HUMAN	Y	553;521;577	ENSP00000301011:N553Y;ENSP00000416951:N577Y	ENSP00000289509:N521Y	N	+	1	0	ZC3H18	87216287	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.827000	0.75303	2.235000	0.73313	0.533000	0.62120	AAT		0.622	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		4	21	0	0	0	0	4	21				
GALNS	2588	broad.mit.edu	37	16	88884501	88884501	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr16:88884501T>A	ENST00000268695.5	-	13	1484	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	GALNS_ENST00000542788.1_Missense_Mutation_p.S391C	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	466					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GTGATCCTGCTGAGGGCCTCC	0.667																																					GBM(129;1929 2344 25209 33204)	uc002fly.3		NA																	0				large_intestine(2)	2						c.(1396-1398)AGC>TGC		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						62.0	46.0	52.0					16																	88884501		2178	4285	6463	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88884501T>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1396A>T	16.37:g.88884501T>A	ENSP00000268695:p.Ser466Cys					GALNS_uc002flx.2_RNA|GALNS_uc010cid.2_Missense_Mutation_p.S472C|GALNS_uc002flz.3_Missense_Mutation_p.S149C	p.S466C	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	13	1485	-			466					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.1396A>T	CCDS10970.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299693	0.60195	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.94046	-3.34;-3.34	5.11	-2.42	0.06542	Alkaline-phosphatase-like, core domain (1);	0.761635	0.12820	N	0.436510	D	0.86760	0.6010	L	0.29908	0.895	0.09310	N	1	D;D	0.58620	0.983;0.983	B;B	0.42188	0.379;0.379	T	0.79581	-0.1744	10	0.56958	D	0.05	.	9.5856	0.39514	0.0:0.2691:0.1664:0.5645	.	466;466	B2R6P1;P34059	.;GALNS_HUMAN	C	466;391	ENSP00000268695:S466C;ENSP00000438197:S391C	ENSP00000268695:S466C	S	-	1	0	GALNS	87412002	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.274000	0.08537	-0.899000	0.03901	0.379000	0.24179	AGC		0.667	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			3	14	0	0	0	0	3	14				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM070299	TP53	M		c.(517-519)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578413C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M	p.V173M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	711	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	51	0	0	0	0	28	51				
DHRS7C	201140	broad.mit.edu	37	17	9676237	9676237	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:9676237C>A	ENST00000330255.5	-	5	589	c.577G>T	c.(577-579)Gct>Tct	p.A193S	DHRS7C_ENST00000571134.1_Missense_Mutation_p.A192S	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	193					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTGGAGGCAGCGTCTGCGAGA	0.617																																						uc010vvb.1		NA																	0					0						c.(577-579)GCT>TCT		dehydrogenase/reductase (SDR family) member 7C							47.0	51.0	50.0					17																	9676237		2203	4300	6503	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676237C>A		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.577G>T	17.37:g.9676237C>A	ENSP00000327975:p.Ala193Ser					DHRS7C_uc010cof.2_Missense_Mutation_p.A192S	p.A193S	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			5	577	-			193					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.577G>T	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802802	0.70682	.	.	ENSG00000184544	ENST00000330255	D	0.90385	-2.66	4.99	4.99	0.66335	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91088	0.7195	N	0.16903	0.455	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.976	D	0.91460	0.5188	10	0.42905	T	0.14	.	17.2154	0.86941	0.0:1.0:0.0:0.0	.	193;189	A6NNS2;B9EJH3	DRS7C_HUMAN;.	S	193	ENSP00000327975:A193S	ENSP00000327975:A193S	A	-	1	0	DHRS7C	9616962	1.000000	0.71417	0.368000	0.25939	0.634000	0.38068	5.458000	0.66679	2.586000	0.87340	0.561000	0.74099	GCT		0.617	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		7	23	1	0	2.01e-06	3.72e-06	7	23				
RNF135	84282	broad.mit.edu	37	17	29326072	29326072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:29326072G>T	ENST00000328381.5	+	5	2035	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GGGAAAGCTTGCCTTCTATTC	0.527																																						uc002hfz.2		NA																	1	Unknown(1)	p.?(1)	central_nervous_system(1)	skin(2)	2						c.(1162-1164)GCC>TCC		ring finger protein 135 isoform 1							116.0	113.0	114.0					17																	29326072		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29326072G>T	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1162G>T	17.37:g.29326072G>T	ENSP00000328340:p.Ala388Ser					RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	p.A388S	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN			5	1298	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	388			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.1162G>T	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.627134	0.46840	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.53640	0.61	5.09	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.42964	D	0.000621	T	0.28400	0.0702	N	0.02842	-0.48	0.80722	D	1	P	0.48089	0.905	P	0.53809	0.735	T	0.26292	-1.0107	10	0.02654	T	1	-17.4569	9.9306	0.41519	0.0:0.0:0.6687:0.3313	.	388	Q8IUD6	RN135_HUMAN	S	388;207	ENSP00000328340:A388S	ENSP00000328340:A388S	A	+	1	0	RNF135	26350198	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.074000	0.50065	2.553000	0.86117	0.655000	0.94253	GCC		0.527	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		7	96	1	0	2.01e-06	3.72e-06	7	96				
SRCIN1	80725	broad.mit.edu	37	17	36720486	36720486	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:36720486A>G	ENST00000264659.7	-	4	633	c.409T>C	c.(409-411)Tcc>Ccc	p.S137P	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S171P|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	0					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GAGGCGTAGGACAGCTTTGCC	0.687																																						uc002hqd.2		NA																	0					0						c.(409-411)TCC>CCC		SNAP25-interacting protein							10.0	13.0	12.0					17																	36720486		2032	4179	6211	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36720486A>G		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.409T>C	17.37:g.36720486A>G	ENSP00000264659:p.Ser137Pro					SRCIN1_uc002hqf.1_5'Flank|SRCIN1_uc002hqe.2_5'UTR|SRCIN1_uc002hqh.1_Missense_Mutation_p.S197P	p.S137P	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			4	634	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.409T>C	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.758594	0.89843	.	.	ENSG00000017373	ENST00000264659	T	0.66460	-0.21	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	.	.	.	0.52099	D	0.999941	D	0.76494	0.999	D	0.71656	0.974	D	0.83486	0.0067	9	0.62326	D	0.03	-20.5861	14.8148	0.70024	1.0:0.0:0.0:0.0	.	137	Q9C0H9-5	.	P	137	ENSP00000264659:S137P	ENSP00000264659:S137P	S	-	1	0	SRCIN1	33974012	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	7.007000	0.76335	2.136000	0.66102	0.533000	0.62120	TCC		0.687	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		3	5	0	0	0	0	3	5				
ERBB2	2064	broad.mit.edu	37	17	37884229	37884229	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:37884229C>T	ENST00000269571.5	+	27	3859	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	ERBB2_ENST00000584450.1_3'UTR|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.P1204S|ERBB2_ENST00000406381.2_Missense_Mutation_p.P1204S|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000540147.1_Missense_Mutation_p.P1204S|ERBB2_ENST00000541774.1_Missense_Mutation_p.P1219S|ERBB2_ENST00000445658.2_Missense_Mutation_p.P958S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1234					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGGGGCTCCACCCAGCACCTT	0.632		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3700-3702)CCC>TCC		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						39.0	43.0	42.0					17																	37884229		2203	4299	6502	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884229C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3700C>T	17.37:g.37884229C>T	ENSP00000269571:p.Pro1234Ser	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.P1204S|ERBB2_uc010cwa.2_Missense_Mutation_p.P1219S|ERBB2_uc002hsp.2_Missense_Mutation_p.P1037S|ERBB2_uc010cwb.2_3'UTR|ERBB2_uc010wek.1_Missense_Mutation_p.P958S	p.P1234S	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	27	3938	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1234			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3700C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895703	0.33442	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75260	-0.92;-0.92;-0.91;-0.92;-0.92	5.07	4.04	0.47022	.	.	.	.	.	T	0.58395	0.2119	N	0.24115	0.695	0.34045	D	0.655482	B;B;B	0.32467	0.011;0.372;0.052	B;B;B	0.30316	0.016;0.114;0.037	T	0.67102	-0.5755	9	0.40728	T	0.16	.	9.736	0.40388	0.1549:0.6945:0.1506:0.0	.	958;1219;1234	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	S	1204;1219;958;1234;1204	ENSP00000385185:P1204S;ENSP00000446466:P1219S;ENSP00000404047:P958S;ENSP00000269571:P1234S;ENSP00000443562:P1204S	ENSP00000269571:P1234S	P	+	1	0	ERBB2	35137755	0.002000	0.14202	0.998000	0.56505	0.710000	0.40934	0.289000	0.18957	2.359000	0.80004	0.563000	0.77884	CCC		0.632	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			12	68	0	0	0	0	12	68				
WNK4	65266	broad.mit.edu	37	17	40933194	40933194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:40933194A>G	ENST00000246914.5	+	1	499	c.478A>G	c.(478-480)Atg>Gtg	p.M160V		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	160					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGGAGGACATGGAGACCCA	0.627																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NA																	0				ovary(3)|skin(3)|stomach(1)	7						c.(478-480)ATG>GTG		WNK lysine deficient protein kinase 4							89.0	65.0	73.0					17																	40933194		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40933194A>G	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.478A>G	17.37:g.40933194A>G	ENSP00000246914:p.Met160Val					WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_5'Flank	p.M160V	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	1	499	+		Breast(137;0.000143)	160					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.478A>G	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	A	5.102	0.204522	0.09704	.	.	ENSG00000126562	ENST00000246914	T	0.69175	-0.38	5.08	5.08	0.68730	.	0.125717	0.36034	N	0.002829	T	0.37919	0.1021	N	0.08118	0	0.22001	N	0.999426	B	0.12630	0.006	B	0.04013	0.001	T	0.29212	-1.0019	10	0.02654	T	1	-1.6006	7.8941	0.29695	0.8746:0.0:0.1254:0.0	.	160	Q96J92	WNK4_HUMAN	V	160	ENSP00000246914:M160V	ENSP00000246914:M160V	M	+	1	0	WNK4	38186720	0.494000	0.26043	1.000000	0.80357	0.994000	0.84299	1.379000	0.34340	2.132000	0.65825	0.460000	0.39030	ATG		0.627	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1			19	49	0	0	0	0	19	49				
MRPL10	124995	broad.mit.edu	37	17	45901757	45901757	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:45901757C>T	ENST00000351111.2	-	5	605	c.600G>A	c.(598-600)ctG>ctA	p.L200L	MRPL10_ENST00000290208.7_Silent_p.L210L|OSBPL7_ENST00000392507.3_5'Flank|MRPL10_ENST00000414011.1_Silent_p.L210L|OSBPL7_ENST00000007414.3_5'Flank	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	200					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCACCAGGGGCAGGCTGGGGA	0.617																																						uc002ilz.2		NA																	0				ovary(1)	1						c.(598-600)CTG>CTA		mitochondrial ribosomal protein L10 precursor							58.0	53.0	55.0					17																	45901757		2203	4300	6503	SO:0001819	synonymous_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45901757C>T	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.600G>A	17.37:g.45901757C>T						OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Silent_p.L161L|MRPL10_uc002ily.2_Silent_p.L210L	p.L200L	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN			5	626	-			200					A6NGJ4|Q96B80|Q96Q55	Silent	SNP	ENST00000351111.2	37	c.600G>A	CCDS11516.1																																																																																				0.617	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		21	41	0	0	0	0	21	41				
COL1A1	1277	broad.mit.edu	37	17	48268775	48268775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:48268775G>A	ENST00000225964.5	-	32	2322	c.2204C>T	c.(2203-2205)gCa>gTa	p.A735V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	735	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	AAGACCAGCTGCACCACGTTC	0.597			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2		NA		Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	0				soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2203-2205)GCA>GTA		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						93.0	93.0	93.0					17																	48268775		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48268775G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2204C>T	17.37:g.48268775G>A	ENSP00000225964:p.Ala735Val						p.A735V	NM_000088	NP_000079	P02452	CO1A1_HUMAN			32	2330	-			735			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.2204C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112473	0.94339	.	.	ENSG00000108821	ENST00000225964	D	0.93488	-3.23	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.93919	0.8054	L	0.31476	0.935	0.80722	D	1	D	0.57899	0.981	P	0.62649	0.905	D	0.93250	0.6634	10	0.37606	T	0.19	.	18.4286	0.90617	0.0:0.0:1.0:0.0	.	735	P02452	CO1A1_HUMAN	V	735	ENSP00000225964:A735V	ENSP00000225964:A735V	A	-	2	0	COL1A1	45623774	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	3.437000	0.52863	2.651000	0.90000	0.563000	0.77884	GCA		0.597	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			25	67	0	0	0	0	25	67				
KIF2B	84643	broad.mit.edu	37	17	51901021	51901021	+	Silent	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:51901021G>C	ENST00000268919.4	+	1	783	c.627G>C	c.(625-627)ccG>ccC	p.P209P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	209					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAGCCCCCGCAAGAACATC	0.537																																						uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(625-627)CCG>CCC		kinesin family member 2B							74.0	63.0	66.0					17																	51901021		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901021G>C	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.627G>C	17.37:g.51901021G>C						uc010wna.1_RNA	p.P209P	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	783	+			209					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.627G>C	CCDS32685.1																																																																																				0.537	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		10	58	0	0	0	0	10	58				
ABCA10	10349	broad.mit.edu	37	17	67218001	67218001	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:67218001A>G	ENST00000269081.4	-	6	1144	c.235T>C	c.(235-237)Tac>Cac	p.Y79H	ABCA10_ENST00000432313.2_Missense_Mutation_p.Y79H|ABCA10_ENST00000423818.2_Intron|ABCA10_ENST00000416101.2_Missense_Mutation_p.Y79H	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	79					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTGCCAAGTAACAAAAAATT	0.338																																						uc010dfa.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(235-237)TAC>CAC		ATP-binding cassette, sub-family A, member 10							71.0	67.0	69.0					17																	67218001		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67218001A>G	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.235T>C	17.37:g.67218001A>G	ENSP00000269081:p.Tyr79His					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfc.1_Intron	p.Y79H	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			6	1114	-	Breast(10;6.95e-12)		79					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.235T>C	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	A	12.50	1.957892	0.34565	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	D;D;D	0.86865	-2.18;-1.95;-1.65	2.87	-1.37	0.09056	.	.	.	.	.	T	0.78438	0.4283	N	0.19112	0.55	0.09310	N	1	P	0.49358	0.923	P	0.50314	0.637	T	0.67565	-0.5638	9	0.49607	T	0.09	.	0.8349	0.01137	0.4786:0.207:0.1284:0.1859	.	79	Q8WWZ4	ABCAA_HUMAN	H	79	ENSP00000269081:Y79H;ENSP00000407772:Y79H;ENSP00000387674:Y79H	ENSP00000269081:Y79H	Y	-	1	0	ABCA10	64729596	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-2.138000	0.01303	-0.632000	0.05553	0.374000	0.22700	TAC		0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		7	14	0	0	0	0	7	14				
CCDC40	55036	broad.mit.edu	37	17	78011950	78011950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:78011950G>C	ENST00000397545.4	+	2	85	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.E20Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.E20Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E20Q|TBC1D16_ENST00000310924.2_5'Flank	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	20					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATCGGCTTCTGAGGGAGAGAA	0.418																																						uc010dht.2		NA																	0				ovary(3)	3						c.(58-60)GAG>CAG		coiled-coil domain containing 40							63.0	62.0	63.0					17																	78011950		1826	4079	5905	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78011950G>C	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.58G>C	17.37:g.78011950G>C	ENSP00000380679:p.Glu20Gln					TBC1D16_uc002jxj.2_5'Flank|CCDC40_uc010wub.1_Missense_Mutation_p.E20Q	p.E20Q	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	85	+	all_neural(118;0.167)		20					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.58G>C	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	8.177	0.792902	0.16327	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.60040	0.25;0.22;0.25;0.35	3.24	2.27	0.28462	.	.	.	.	.	T	0.39253	0.1071	N	0.14661	0.345	0.09310	N	1	P;P	0.47677	0.899;0.596	P;B	0.45099	0.469;0.133	T	0.10965	-1.0607	9	0.26408	T	0.33	-0.2867	6.4625	0.21964	0.134:0.0:0.866:0.0	.	20;20	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	Q	20	ENSP00000364011:E20Q;ENSP00000269318:E20Q;ENSP00000364010:E20Q;ENSP00000380679:E20Q	ENSP00000269318:E20Q	E	+	1	0	CCDC40	75626545	0.010000	0.17322	0.001000	0.08648	0.001000	0.01503	2.131000	0.42074	0.933000	0.37291	-0.140000	0.14226	GAG		0.418	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		5	35	0	0	0	0	5	35				
NPLOC4	55666	broad.mit.edu	37	17	79564324	79564324	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79564324C>A	ENST00000331134.6	-	10	1155	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	NPLOC4_ENST00000374747.5_Missense_Mutation_p.D314Y|NPLOC4_ENST00000539314.1_Missense_Mutation_p.D153Y	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	314					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGACGAGGTCTGTAAATATC	0.478																																						uc002kat.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(940-942)GAC>TAC		nuclear protein localization 4							115.0	112.0	113.0					17																	79564324		1959	4146	6105	SO:0001583	missense	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79564324C>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.940G>T	17.37:g.79564324C>A	ENSP00000331487:p.Asp314Tyr					NPLOC4_uc002kau.3_Missense_Mutation_p.D314Y|NPLOC4_uc010wur.1_Missense_Mutation_p.D153Y	p.D314Y	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		10	1122	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		314					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Missense_Mutation	SNP	ENST00000331134.6	37	c.940G>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.964513	0.92791	.	.	ENSG00000182446	ENST00000331134;ENST00000374747;ENST00000539314	.	.	.	5.54	5.54	0.83059	Nuclear pore localisation protein NPL4 (1);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.91566	0.5268	9	0.87932	D	0	-40.5818	19.9063	0.97008	0.0:1.0:0.0:0.0	.	153;314;314	B4DG89;Q8TAT6-2;Q8TAT6	.;.;NPL4_HUMAN	Y	314;313;153	.	ENSP00000331487:D314Y	D	-	1	0	NPLOC4	77174762	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.314000	0.78988	2.774000	0.95407	0.644000	0.83932	GAC		0.478	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			16	74	1	0	3.53e-06	6.46e-06	16	74				
NPLOC4	55666	broad.mit.edu	37	17	79589283	79589283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:79589283G>A	ENST00000331134.6	-	3	333	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	NPLOC4_ENST00000374747.5_Nonsense_Mutation_p.Q40*|NPLOC4_ENST00000539314.1_5'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	40					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCATTATTTTGGAAGCCAAAC	0.388																																						uc002kat.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)CAA>TAA		nuclear protein localization 4							90.0	87.0	88.0					17																	79589283		1842	4098	5940	SO:0001587	stop_gained	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79589283G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.118C>T	17.37:g.79589283G>A	ENSP00000331487:p.Gln40*					NPLOC4_uc002kau.3_Nonsense_Mutation_p.Q40*|NPLOC4_uc010wur.1_5'UTR	p.Q40*	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		3	300	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		40					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Nonsense_Mutation	SNP	ENST00000331134.6	37	c.118C>T	CCDS45812.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621022	0.96660	.	.	ENSG00000182446	ENST00000331134;ENST00000374747	.	.	.	5.21	4.18	0.49190	.	0.224065	0.43579	D	0.000544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-14.6926	8.2262	0.31570	0.0:0.1293:0.576:0.2947	.	.	.	.	X	40;39	.	ENSP00000331487:Q40X	Q	-	1	0	NPLOC4	77199688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.730000	0.62015	2.584000	0.87258	0.591000	0.81541	CAA		0.388	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1			9	77	0	0	0	0	9	77				
LPIN2	9663	broad.mit.edu	37	18	2937737	2937737	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:2937737G>A	ENST00000261596.4	-	7	1359	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	374					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTGGATTCTGAGGGCGCCTC	0.463																																						uc002klo.2		NA																	0				ovary(1)|skin(1)	2						c.(1120-1122)TCA>TTA		lipin 2							64.0	65.0	65.0					18																	2937737		2203	4300	6503	SO:0001583	missense	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2937737G>A	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1121C>T	18.37:g.2937737G>A	ENSP00000261596:p.Ser374Leu						p.S374L	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	7	1360	-			374					A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	37	c.1121C>T	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149375	0.21288	.	.	ENSG00000101577	ENST00000261596	T	0.80653	-1.4	5.74	4.87	0.63330	.	1.126840	0.06627	N	0.758422	T	0.82185	0.4982	M	0.80422	2.495	0.48087	D	0.999581	B	0.02656	0.0	B	0.08055	0.003	T	0.69351	-0.5168	10	0.36615	T	0.2	.	10.5038	0.44821	0.1489:0.0:0.8511:0.0	.	374	Q92539	LPIN2_HUMAN	L	374	ENSP00000261596:S374L	ENSP00000261596:S374L	S	-	2	0	LPIN2	2927737	0.970000	0.33590	0.832000	0.32986	0.299000	0.27559	2.247000	0.43151	1.433000	0.47394	0.655000	0.94253	TCA		0.463	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		20	74	0	0	0	0	20	74				
TMEM200C	645369	broad.mit.edu	37	18	5890361	5890361	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:5890361G>T	ENST00000581347.2	-	3	2347	c.1702C>A	c.(1702-1704)Ctg>Atg	p.L568M	RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000582939.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.L568M|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	568						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TCCGCACCCAGAACGGGGGCG	0.652																																						uc002kmx.1		NA																	0					0						c.(1702-1704)CTG>ATG		transmembrane protein 200C							26.0	28.0	28.0					18																	5890361		1855	4095	5950	SO:0001583	missense	645369					integral to membrane		g.chr18:5890361G>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.1702C>A	18.37:g.5890361G>T	ENSP00000463375:p.Leu568Met						p.L568M	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	1743	-			568						Missense_Mutation	SNP	ENST00000581347.2	37	c.1702C>A	CCDS45825.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474405	0.26423	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.62	-1.87	0.07737	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.18777	-1.0326	8	0.56958	D	0.05	.	0.1293	0.00072	0.254:0.1996:0.2431:0.3034	.	568	A6NKL6	T200C_HUMAN	M	568	.	ENSP00000372982:L568M	L	-	1	2	TMEM200C	5880361	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.576000	0.05854	-0.691000	0.05135	0.561000	0.74099	CTG		0.652	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		14	47	1	0	7.93e-07	1.49e-06	14	47				
OSBPL1A	114876	broad.mit.edu	37	18	21751402	21751402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:21751402G>C	ENST00000319481.3	-	23	2468	c.2262C>G	c.(2260-2262)caC>caG	p.H754Q	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.H241Q|RNA5SP452_ENST00000363004.1_RNA|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.H372Q	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	754					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CTTCAACTTTGTGTAATTCCT	0.294																																						uc002kve.2		NA																	0				ovary(4)	4						c.(2260-2262)CAC>CAG		oxysterol-binding protein-like 1A isoform B							82.0	88.0	86.0					18																	21751402		2202	4300	6502	SO:0001583	missense	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21751402G>C	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2262C>G	18.37:g.21751402G>C	ENSP00000320291:p.His754Gln					OSBPL1A_uc002kvd.2_Missense_Mutation_p.H241Q|OSBPL1A_uc010xbc.1_Missense_Mutation_p.H372Q	p.H754Q	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			23	2436	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		754					B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	ENST00000319481.3	37	c.2262C>G	CCDS11884.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624946	0.28889	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.31510	1.49;1.49;1.49	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56187	0.1968	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58092	-0.7697	10	0.52906	T	0.07	-23.3182	14.2845	0.66238	0.0741:0.0:0.9259:0.0	.	754	Q9BXW6	OSBL1_HUMAN	Q	754;241;372	ENSP00000320291:H754Q;ENSP00000382372:H241Q;ENSP00000349545:H372Q	ENSP00000320291:H754Q	H	-	3	2	OSBPL1A	20005400	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.434000	0.44802	2.540000	0.85666	0.650000	0.86243	CAC		0.294	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		31	71	0	0	0	0	31	71				
ASXL3	80816	broad.mit.edu	37	18	31226289	31226289	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:31226289G>A	ENST00000269197.5	+	4	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATATGGCCGAGGCAAATGCCC	0.383																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(325-327)GAG>GAA		additional sex combs like 3							133.0	132.0	132.0					18																	31226289		1928	4144	6072	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31226289G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.327G>A	18.37:g.31226289G>A						ASXL3_uc002kxq.2_5'UTR	p.E109E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			4	382	+			109					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.327G>A	CCDS45847.1																																																																																				0.383	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			17	45	0	0	0	0	17	45				
MAPK4	5596	broad.mit.edu	37	18	48190452	48190452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:48190452G>A	ENST00000400384.2	+	2	1160	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	MAPK4_ENST00000592595.1_Missense_Mutation_p.A42T|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A42T	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGACAGCCGGGCCTGCCGGAA	0.612																																						uc002lev.2		NA																	0				lung(4)|skin(2)	6						c.(124-126)GCC>ACC		mitogen-activated protein kinase 4							75.0	83.0	81.0					18																	48190452		2129	4237	6366	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190452G>A	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.124G>A	18.37:g.48190452G>A	ENSP00000383234:p.Ala42Thr					MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.A42T	p.A42T	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1124	+		Colorectal(6;0.0297)	42			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.124G>A	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	0.989	-0.694606	0.03303	.	.	ENSG00000141639	ENST00000400384	T	0.35789	1.29	5.87	-1.68	0.08212	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.588174	0.16433	N	0.214655	T	0.05273	0.0140	N	0.00143	-2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.40098	-0.9581	10	0.02654	T	1	0.3716	4.4003	0.11383	0.487:0.0:0.2564:0.2567	.	42;42	Q0VG04;P31152	.;MK04_HUMAN	T	42	ENSP00000383234:A42T	ENSP00000383234:A42T	A	+	1	0	MAPK4	46444450	0.001000	0.12720	0.000000	0.03702	0.452000	0.32318	0.041000	0.13927	-0.139000	0.11414	0.561000	0.74099	GCC		0.612	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		14	48	0	0	0	0	14	48				
DOK6	220164	broad.mit.edu	37	18	67406203	67406203	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr18:67406203T>C	ENST00000382713.5	+	6	792	c.602T>C	c.(601-603)aTg>aCg	p.M201T	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	201	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.									central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCTCACAGAATGTGTGACACA	0.453																																						uc002lkl.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(601-603)ATG>ACG		docking protein 6							152.0	151.0	151.0					18																	67406203		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67406203T>C	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.602T>C	18.37:g.67406203T>C	ENSP00000372160:p.Met201Thr						p.M201T	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			6	792	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	201			IRS-type PTB.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.602T>C	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.257770	0.39896	.	.	ENSG00000206052	ENST00000382713	D	0.82167	-1.58	6.17	6.17	0.99709	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.85682	D	0.000000	D	0.87212	0.6121	L	0.47716	1.5	0.80722	D	1	P	0.48089	0.905	P	0.58928	0.848	D	0.87606	0.2500	10	0.59425	D	0.04	-9.7727	16.0034	0.80327	0.0:0.0:0.0:1.0	.	201	Q6PKX4	DOK6_HUMAN	T	201	ENSP00000372160:M201T	ENSP00000372160:M201T	M	+	2	0	DOK6	65557183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.890000	0.87313	2.371000	0.80710	0.533000	0.62120	ATG		0.453	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		30	77	0	0	0	0	30	77				
C19orf35	374872	broad.mit.edu	37	19	2276353	2276353	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:2276353C>T	ENST00000342063.3	-	4	841	c.748G>A	c.(748-750)Gca>Aca	p.A250T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	250										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		AGCGCCACTGCGCCTCTCCAG	0.711																																						uc002lvn.2		NA																	0				pancreas(1)	1						c.(748-750)GCA>ACA		hypothetical protein LOC374872							8.0	9.0	9.0					19																	2276353		2054	4085	6139	SO:0001583	missense	374872							g.chr19:2276353C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.748G>A	19.37:g.2276353C>T	ENSP00000345102:p.Ala250Thr					SPPL2B_uc010dsw.1_Intron	p.A250T	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	848	-			250						Missense_Mutation	SNP	ENST00000342063.3	37	c.748G>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	3.445	-0.113169	0.06881	.	.	ENSG00000188305	ENST00000342063	T	0.19394	2.15	2.66	-1.58	0.08479	.	.	.	.	.	T	0.06872	0.0175	N	0.08118	0	0.09310	N	1	P	0.40619	0.724	B	0.27262	0.078	T	0.27673	-1.0067	9	0.40728	T	0.16	.	5.5266	0.16960	0.1297:0.4127:0.4576:0.0	.	250	Q6ZS72	CS035_HUMAN	T	250	ENSP00000345102:A250T	ENSP00000345102:A250T	A	-	1	0	C19orf35	2227353	0.001000	0.12720	0.000000	0.03702	0.052000	0.14988	0.429000	0.21412	-0.043000	0.13513	-0.311000	0.09066	GCA		0.711	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532		7	16	0	0	0	0	7	16				
MRPL54	116541	broad.mit.edu	37	19	3762721	3762721	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3762721G>T	ENST00000330133.4	+	1	60	c.23G>T	c.(22-24)gGg>gTg	p.G8V	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	8						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCTTTTCGGGGCTACCCGG	0.627																																						uc002lyq.3		NA																	0					0						c.(22-24)GGG>GTG		mitochondrial ribosomal protein L54 precursor							53.0	62.0	59.0					19																	3762721		2203	4299	6502	SO:0001583	missense	116541					mitochondrion|ribosome		g.chr19:3762721G>T		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.23G>T	19.37:g.3762721G>T	ENSP00000331849:p.Gly8Val					APBA3_uc002lyp.1_5'Flank	p.G8V	NM_172251	NP_758455	Q6P161	RM54_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	1	57	+		Hepatocellular(1079;0.137)	8						Missense_Mutation	SNP	ENST00000330133.4	37	c.23G>T	CCDS12111.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972008	0.34754	.	.	ENSG00000183617	ENST00000330133	.	.	.	5.57	2.15	0.27550	.	0.999692	0.08091	N	0.999377	T	0.30479	0.0766	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.29058	-1.0024	9	0.59425	D	0.04	-12.3839	5.6229	0.17467	0.0909:0.0:0.5545:0.3546	.	8	Q6P161	RM54_HUMAN	V	8	.	ENSP00000331849:G8V	G	+	2	0	MRPL54	3713721	0.009000	0.17119	0.002000	0.10522	0.010000	0.07245	1.101000	0.31037	0.649000	0.30751	0.561000	0.74099	GGG		0.627	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		22	92	1	0	4.27e-12	8.8e-12	22	92				
MATK	4145	broad.mit.edu	37	19	3784203	3784203	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:3784203C>A	ENST00000310132.6	-	5	679	c.281G>T	c.(280-282)aGt>aTt	p.S94I	MATK_ENST00000395040.2_Missense_Mutation_p.S53I|MATK_ENST00000585778.1_Missense_Mutation_p.S94I|MATK_ENST00000395045.2_Missense_Mutation_p.S95I	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	94	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGTCCACTGGTGTGGTG	0.692																																						uc002lyt.2		NA																	0				stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(280-282)AGT>ATT		megakaryocyte-associated tyrosine kinase isoform							47.0	53.0	51.0					19																	3784203		2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784203C>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.281G>T	19.37:g.3784203C>A	ENSP00000308734:p.Ser94Ile					MATK_uc002lyv.2_Missense_Mutation_p.S95I|MATK_uc002lyu.2_Missense_Mutation_p.S53I|MATK_uc010dtq.2_Missense_Mutation_p.S94I	p.S94I	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	681	-		Hepatocellular(1079;0.137)	94			SH3.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.281G>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	c	16.26	3.072650	0.55646	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.51071	0.72;0.72;0.72	4.55	2.36	0.29203	Src homology-3 domain (4);	0.124418	0.56097	D	0.000037	T	0.57519	0.2059	M	0.76170	2.325	0.22779	N	0.998748	D;D;D	0.62365	0.991;0.991;0.991	P;P;P	0.59487	0.858;0.858;0.858	T	0.50717	-0.8795	10	0.87932	D	0	-8.755	4.724	0.12933	0.1452:0.6066:0.1605:0.0878	.	94;95;94	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	I	95;94;53	ENSP00000378485:S95I;ENSP00000308734:S94I;ENSP00000378481:S53I	ENSP00000308734:S94I	S	-	2	0	MATK	3735203	0.988000	0.35896	0.928000	0.36995	0.545000	0.35147	2.517000	0.45529	0.341000	0.23771	0.306000	0.20318	AGT		0.692	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		23	57	1	0	4.27e-12	8.8e-12	23	57				
PTPRS	5802	broad.mit.edu	37	19	5222178	5222178	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5222178T>A	ENST00000587303.1	-	18	3256	c.3157A>T	c.(3157-3159)Agc>Tgc	p.S1053C	PTPRS_ENST00000348075.2_Missense_Mutation_p.S1031C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.S1049C|PTPRS_ENST00000588012.1_Missense_Mutation_p.S1031C|PTPRS_ENST00000353284.2_Missense_Mutation_p.S622C|PTPRS_ENST00000372412.4_Missense_Mutation_p.S1054C|PTPRS_ENST00000357368.4_Missense_Mutation_p.S1053C|PTPRS_ENST00000592099.1_Missense_Mutation_p.S622C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1053	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AACTCCCAGCTGAGCAGAACT	0.587																																						uc002mbv.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(3157-3159)AGC>TGC		protein tyrosine phosphatase, receptor type,							142.0	126.0	132.0					19																	5222178		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5222178T>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3157A>T	19.37:g.5222178T>A	ENSP00000467537:p.Ser1053Cys					PTPRS_uc002mbu.1_Missense_Mutation_p.S622C|PTPRS_uc010xin.1_Missense_Mutation_p.S622C|PTPRS_uc002mbw.2_Missense_Mutation_p.S1031C|PTPRS_uc002mbx.2_Missense_Mutation_p.S626C|PTPRS_uc002mby.2_Missense_Mutation_p.S622C	p.S1053C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	19	3391	-			1053			Extracellular (Potential).|Fibronectin type-III 8.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3157A>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.456752	0.43634	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.58358	0.57;0.35;0.35;0.35;0.34	3.52	3.52	0.40303	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.254900	0.31177	U	0.008120	T	0.61035	0.2315	L	0.58101	1.795	0.50467	D	0.999874	D;P;P;D;P;D	0.71674	0.96;0.941;0.898;0.998;0.693;0.986	P;P;P;P;B;P	0.60789	0.754;0.736;0.646;0.879;0.345;0.711	T	0.63589	-0.6603	10	0.87932	D	0	.	8.0183	0.30393	0.0:0.0997:0.0:0.9003	.	635;622;626;1031;1053;648	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	C	648;1054;1053;1053;1044;1049;1031;635;626;622	ENSP00000361489:S1054C;ENSP00000349932:S1053C;ENSP00000262963:S1049C;ENSP00000269907:S1031C;ENSP00000327313:S622C	ENSP00000262963:S1049C	S	-	1	0	PTPRS	5173178	0.533000	0.26354	0.988000	0.46212	0.332000	0.28634	0.793000	0.26944	1.467000	0.48044	0.456000	0.33151	AGC		0.587	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			26	71	0	0	0	0	26	71				
ARHGEF18	23370	broad.mit.edu	37	19	7518437	7518437	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:7518437A>T	ENST00000359920.6	+	7	1629	c.1376A>T	c.(1375-1377)gAg>gTg	p.E459V	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.S417C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.E301V	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	459					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AAGGTCAGTGAGTGTGAGAAG	0.542																																						uc002mgi.2		NA																	0				ovary(1)	1						c.(1375-1377)GAG>GTG		Rho/Rac guanine nucleotide exchange factor 18							123.0	112.0	116.0					19																	7518437		2203	4300	6503	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7518437A>T	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.1376A>T	19.37:g.7518437A>T	ENSP00000352995:p.Glu459Val					ARHGEF18_uc010xjm.1_Missense_Mutation_p.E301V|ARHGEF18_uc002mgh.2_Missense_Mutation_p.E301V|ARHGEF18_uc002mgj.1_Missense_Mutation_p.E102V	p.E459V	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			7	1629	+		Renal(5;0.0902)	459					A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.1376A>T	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077921	0.55753	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.69040	-0.37;-0.37	5.4	4.37	0.52481	Dbl homology (DH) domain (2);	0.000000	0.56097	D	0.000024	T	0.64360	0.2591	L	0.58810	1.83	0.25369	N	0.988716	P;P	0.45428	0.858;0.778	B;B	0.43754	0.43;0.248	T	0.59521	-0.7439	10	0.56958	D	0.05	-39.0504	10.6986	0.45913	0.8396:0.1604:0.0:0.0	.	301;459	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	V	301;459	ENSP00000319200:E301V;ENSP00000352995:E459V	ENSP00000319200:E301V	E	+	2	0	ARHGEF18	7424437	0.915000	0.31059	0.214000	0.23707	0.854000	0.48673	3.294000	0.51787	0.872000	0.35775	0.439000	0.28862	GAG		0.542	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		27	76	0	0	0	0	27	76				
CARM1	10498	broad.mit.edu	37	19	11032327	11032328	+	Missense_Mutation	DNP	CG	CG	TT	rs149968022|rs139191688	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:11032327_11032328CG>TT	ENST00000327064.4	+	16	1911_1912	c.1721_1722CG>TT	c.(1720-1722)aCG>aTT	p.T574I	CARM1_ENST00000344150.4_Missense_Mutation_p.T551I	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	574	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GGTGGCAGCACGAGTGCCCACT	0.673																																						uc002mpz.2		NA																	0					0						c.(1720-1722)ACG>ATT		coactivator-associated arginine																																				SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11032327_11032328CG>TT	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		Exception_encountered	19.37:g.11032327_11032328delinsTT	ENSP00000325690:p.Thr574Ile					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Missense_Mutation_p.T334I	p.T574I	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			16	1847_1848	+			574			Transactivation domain (By similarity).		A6NN38	Missense_Mutation	DNP	ENST00000327064.4	37	c.1721_1722CG>TT	CCDS12250.1																																																																																				0.673	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		19	62	0	0	0	0	19	62				
ZNF44	51710	broad.mit.edu	37	19	12384496	12384496	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12384496C>A	ENST00000356109.5	-	5	836	c.718G>T	c.(718-720)Ggt>Tgt	p.G240C	ZNF44_ENST00000355684.5_Missense_Mutation_p.G192C	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	240					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)		CCATCTCCACCTTTTACTACC	0.403																																						uc010xmj.1		NA																	0				ovary(1)	1						c.(718-720)GGT>TGT		zinc finger protein 44 isoform 1							84.0	89.0	87.0					19																	12384496		2202	4300	6502	SO:0001583	missense	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384496C>A	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.718G>T	19.37:g.12384496C>A	ENSP00000348419:p.Gly240Cys					ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.G192C	p.G240C	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	923	-		Renal(1328;0.157)	240					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	c.718G>T	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139611	0.37728	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.15139	2.45;2.45;2.45	0.898	-0.254	0.12992	Zinc finger, C2H2 (1);	.	.	.	.	T	0.20820	0.0501	N	0.25426	0.745	.	.	.	D;D	0.76494	0.983;0.999	P;D	0.66716	0.784;0.946	T	0.27054	-1.0085	8	0.87932	D	0	.	3.7784	0.08669	0.0:0.2951:0.0:0.7049	.	240;192	P15621;F8W7T7	ZNF44_HUMAN;.	C	240;240;192;192	ENSP00000377008:G240C;ENSP00000348419:G240C;ENSP00000347910:G192C	ENSP00000347910:G192C	G	-	1	0	ZNF44	12245496	0.012000	0.17670	0.002000	0.10522	0.473000	0.32948	-0.141000	0.10327	-0.117000	0.11872	0.313000	0.20887	GGT		0.403	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		28	60	1	0	4.88e-14	1.02e-13	28	60				
DNASE2	1777	broad.mit.edu	37	19	12991695	12991695	+	Splice_Site	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:12991695C>G	ENST00000222219.3	-	3	360		c.e3-1		DNASE2_ENST00000538460.1_Splice_Site|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						GGAAGGCGAGCTGCGGGCGGA	0.632																																						uc002mvn.1		NA																	0					0						c.e3-1	Direct_reversal_of_damage	deoxyribonuclease II, lysosomal precursor							98.0	93.0	95.0					19																	12991695		2203	4300	6503	SO:0001630	splice_region_variant	1777				apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding	g.chr19:12991695C>G	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.268-1G>C	19.37:g.12991695C>G						DNASE2_uc010xmr.1_Splice_Site_p.L90_splice	p.L90_splice	NM_001375	NP_001366	O00115	DNS2A_HUMAN			3	414	-								B2RD06|B7Z4K6|O43910	Splice_Site	SNP	ENST00000222219.3	37	c.268_splice	CCDS12284.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767532	0.49574	.	.	ENSG00000105612	ENST00000222219;ENST00000538460	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5995	0.68429	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNASE2	12852695	1.000000	0.71417	0.995000	0.50966	0.422000	0.31414	4.137000	0.58010	2.529000	0.85273	0.561000	0.74099	.		0.632	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1		Intron	14	72	0	0	0	0	14	72				
CYP4F3	4051	broad.mit.edu	37	19	15770178	15770178	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:15770178G>C	ENST00000221307.8	+	13	1593	c.1546G>C	c.(1546-1548)Gtg>Ctg	p.V516L	CYP4F3_ENST00000585846.1_Missense_Mutation_p.V516L|CYP4F3_ENST00000591058.1_Missense_Mutation_p.V516L|CYP4F3_ENST00000586182.2_Missense_Mutation_p.V516L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	516					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTGGCTGCGGGTGGAGCCCCT	0.622																																						uc002nbj.2		NA																	0				ovary(3)	3						c.(1546-1548)GTG>CTG		cytochrome P450, family 4, subfamily F,							11.0	13.0	12.0					19																	15770178		2194	4269	6463	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15770178G>C	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1546G>C	19.37:g.15770178G>C	ENSP00000221307:p.Val516Leu					CYP4F3_uc010xok.1_Missense_Mutation_p.V516L|CYP4F3_uc010xol.1_Missense_Mutation_p.V516L|CYP4F3_uc010xom.1_Missense_Mutation_p.V367L|CYP4F3_uc002nbk.2_Missense_Mutation_p.V516L|CYP4F3_uc010xon.1_Missense_Mutation_p.V226L	p.V516L	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			13	1596	+			516					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1546G>C	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	0.385	-0.926380	0.02377	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.77750	-1.12	3.48	2.35	0.29111	.	0.476016	0.15175	U	0.276425	T	0.66489	0.2794	L	0.39898	1.24	0.30167	N	0.801639	B;B;B	0.16396	0.005;0.009;0.017	B;B;B	0.17979	0.011;0.02;0.02	T	0.59016	-0.7533	10	0.21014	T	0.42	.	10.4563	0.44553	0.0:0.1987:0.8013:0.0	.	226;516;516	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	L	443;516	ENSP00000221307:V516L	ENSP00000221307:V516L	V	+	1	0	CYP4F3	15631178	0.987000	0.35691	0.997000	0.53966	0.280000	0.26924	0.465000	0.22004	1.773000	0.52216	0.305000	0.20034	GTG		0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		6	25	0	0	0	0	6	25				
MED26	9441	broad.mit.edu	37	19	16687968	16687968	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:16687968C>T	ENST00000263390.3	-	3	935	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A233T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	225					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GGTCGCACGGCGTTGACGGGG	0.672																																						uc002nen.1		NA																	0				ovary(2)	2						c.(673-675)GCC>ACC		mediator complex subunit 26							42.0	46.0	45.0					19																	16687968		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687968C>T	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.673G>A	19.37:g.16687968C>T	ENSP00000263390:p.Ala225Thr					MED26_uc002nee.2_RNA	p.A225T	NM_004831	NP_004822	O95402	MED26_HUMAN			3	934	-			225					A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.673G>A	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014368	0.54468	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.81	3.74	0.42951	.	0.120314	0.56097	D	0.000038	T	0.68274	0.2983	M	0.62723	1.935	0.53005	D	0.999961	D	0.89917	1.0	P	0.59948	0.866	T	0.68168	-0.5480	9	0.39692	T	0.17	-13.5712	13.915	0.63893	0.0:0.8465:0.1535:0.0	.	225	O95402	MED26_HUMAN	T	225	.	ENSP00000263390:A225T	A	-	1	0	MED26	16548968	0.998000	0.40836	0.035000	0.18076	0.004000	0.04260	3.700000	0.54786	0.988000	0.38734	0.555000	0.69702	GCC		0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		16	48	0	0	0	0	16	48				
SLC7A9	11136	broad.mit.edu	37	19	33353084	33353084	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:33353084T>C	ENST00000023064.4	-	6	835	c.644A>G	c.(643-645)cAg>cGg	p.Q215R	SLC7A9_ENST00000590341.1_Missense_Mutation_p.Q215R|SLC7A9_ENST00000587772.1_Missense_Mutation_p.Q215R|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	215					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGACAGCTGGGCGCCCTC	0.537																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NA																	0				skin(1)	1						c.(643-645)CAG>CGG		solute carrier family 7, member 9	L-Cystine(DB00138)						86.0	84.0	85.0					19																	33353084		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33353084T>C	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.644A>G	19.37:g.33353084T>C	ENSP00000023064:p.Gln215Arg					SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.Q215R|SLC7A9_uc002ntw.3_Intron	p.Q215R	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			6	761	-	Esophageal squamous(110;0.137)		215			Helical; (Potential).		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.644A>G	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	T	4.630	0.117058	0.08881	.	.	ENSG00000021488	ENST00000023064	D	0.89552	-2.53	5.12	0.417	0.16421	Amino acid permease domain (1);	1.124800	0.06320	N	0.704317	T	0.73410	0.3583	N	0.02876	-0.465	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59322	-0.7476	10	0.23302	T	0.38	.	7.8262	0.29315	0.0:0.1374:0.4588:0.4038	.	215	P82251	BAT1_HUMAN	R	215	ENSP00000023064:Q215R	ENSP00000023064:Q215R	Q	-	2	0	SLC7A9	38044924	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	0.810000	0.27183	0.032000	0.15435	0.459000	0.35465	CAG		0.537	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			16	71	0	0	0	0	16	71				
ZNF792	126375	broad.mit.edu	37	19	35449469	35449469	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:35449469G>C	ENST00000404801.1	-	4	1676	c.1290C>G	c.(1288-1290)ttC>ttG	p.F430L	ZNF792_ENST00000605484.1_Missense_Mutation_p.F363L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGTGGCTGAAGAATTTCCCAC	0.483																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1		NA																	0					0						c.(1288-1290)TTC>TTG		zinc finger protein 792							111.0	105.0	107.0					19																	35449469		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449469G>C	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1290C>G	19.37:g.35449469G>C	ENSP00000385099:p.Phe430Leu						p.F430L	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1677	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		430			C2H2-type 8.		B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1290C>G	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	9.268	1.045046	0.19748	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.17691	2.26	2.77	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08223	0.0205	N	0.10760	0.04	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28618	-1.0038	9	0.72032	D	0.01	.	5.1789	0.15150	0.0:0.2339:0.5266:0.2395	.	430	Q3KQV3	ZN792_HUMAN	L	430;190	ENSP00000385099:F430L	ENSP00000368487:F190L	F	-	3	2	ZNF792	40141309	0.000000	0.05858	0.105000	0.21289	0.970000	0.65996	-0.558000	0.05978	0.682000	0.31407	0.563000	0.77884	TTC		0.483	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		29	71	0	0	0	0	29	71				
HAUS5	23354	broad.mit.edu	37	19	36111009	36111009	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36111009G>T	ENST00000203166.5	+	16	1527	c.1502G>T	c.(1501-1503)gGg>gTg	p.G501V	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	501					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CACAAGCTGGGGCTGCCTCCA	0.677																																						uc002oam.1		NA																	0					0						c.(1501-1503)GGG>GTG		HAUS augmin-like complex, subunit 5							56.0	67.0	63.0					19																	36111009		2065	4194	6259	SO:0001583	missense	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36111009G>T	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1502G>T	19.37:g.36111009G>T	ENSP00000439056:p.Gly501Val						p.G501V	NM_015302	NP_056117	O94927	HAUS5_HUMAN			16	1553	+			501					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Missense_Mutation	SNP	ENST00000203166.5	37	c.1502G>T	CCDS42550.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975753	0.74360	.	.	ENSG00000249115	ENST00000203166	T	0.31247	1.5	4.81	4.81	0.61882	.	0.237654	0.35151	N	0.003409	T	0.50565	0.1623	L	0.56769	1.78	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.50608	-0.8808	10	0.59425	D	0.04	0.2421	15.4156	0.74966	0.0:0.0:1.0:0.0	.	501	O94927	HAUS5_HUMAN	V	501	ENSP00000439056:G501V	ENSP00000439056:G501V	G	+	2	0	HAUS5	40802849	1.000000	0.71417	0.544000	0.28141	0.287000	0.27160	4.460000	0.60108	2.502000	0.84385	0.655000	0.94253	GGG		0.677	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			42	83	1	0	1.63e-23	3.64e-23	42	83				
CLIP3	25999	broad.mit.edu	37	19	36515346	36515346	+	Missense_Mutation	SNP	G	G	T	rs368037147		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:36515346G>T	ENST00000360535.4	-	7	1097	c.870C>A	c.(868-870)agC>agA	p.S290R	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S290R	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	290					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCCCAGTGCGCTAAGCATGA	0.622																																						uc010eeq.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(868-870)AGC>AGA		CAP-GLY domain containing linker protein 3							109.0	93.0	98.0					19																	36515346		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36515346G>T	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.870C>A	19.37:g.36515346G>T	ENSP00000353732:p.Ser290Arg					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Missense_Mutation_p.S290R	p.S290R	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		6	1152	-	Esophageal squamous(110;0.162)		290					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.870C>A	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812849	0.32053	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.75050	-0.9	5.88	-3.92	0.04155	Cytoskeleton-associated protein, Gly-rich domain (2);	0.303337	0.40064	N	0.001199	T	0.57607	0.2065	L	0.40543	1.245	0.50039	D	0.999844	P	0.38280	0.625	B	0.36959	0.237	T	0.44817	-0.9303	10	0.42905	T	0.14	-11.8708	7.8771	0.29599	0.6455:0.0:0.2321:0.1224	.	290	Q96DZ5	CLIP3_HUMAN	R	290;172;266	ENSP00000353732:S290R	ENSP00000353732:S290R	S	-	3	2	CLIP3	41207186	0.000000	0.05858	0.722000	0.30670	0.989000	0.77384	-1.417000	0.02464	-0.925000	0.03775	-0.218000	0.12543	AGC		0.622	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		22	47	1	0	3.88e-16	8.39e-16	22	47				
HKR1	284459	broad.mit.edu	37	19	37838218	37838218	+	Splice_Site	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:37838218G>C	ENST00000324411.4	+	4	486	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q	HKR1_ENST00000592168.1_Splice_Site_p.E12Q|HKR1_ENST00000589392.1_Splice_Site_p.E54Q|HKR1_ENST00000544914.1_Intron|HKR1_ENST00000541583.2_Splice_Site_p.E12Q|HKR1_ENST00000591134.1_Splice_Site_p.E12Q|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000586897.1_Splice_Site_p.E12Q|HKR1_ENST00000392153.3_Splice_Site_p.E54Q|HKR1_ENST00000591259.1_Splice_Site_p.E54Q|HKR1_ENST00000591417.1_Splice_Site_p.E12Q	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCTCACTGGGTAAGAATGG	0.522																																						uc002ogb.2		NA																	0				ovary(2)	2						c.(217-219)GAA>CAA		GLI-Kruppel family member HKR1							125.0	120.0	121.0					19																	37838218		2203	4300	6503	SO:0001630	splice_region_variant	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37838218G>C	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.217+1G>C	19.37:g.37838218G>C						HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_Intron|HKR1_uc002ofz.2_Missense_Mutation_p.E54Q|HKR1_uc002oga.2_Missense_Mutation_p.E54Q|HKR1_uc010xto.1_Missense_Mutation_p.E54Q|HKR1_uc002ogc.2_Missense_Mutation_p.E54Q|HKR1_uc010xtp.1_Missense_Mutation_p.E12Q|HKR1_uc002ogd.2_Missense_Mutation_p.E12Q	p.E73Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	486	+			73			KRAB.		A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.217G>C	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603804	0.46423	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.01887	4.58;4.58;5.6	3.2	3.2	0.36748	Krueppel-associated box (4);	.	.	.	.	T	0.06325	0.0163	L	0.50919	1.6	0.80722	D	1	B;D;B;B;P	0.59357	0.107;0.985;0.205;0.205;0.634	B;P;B;B;B	0.58520	0.051;0.84;0.227;0.175;0.064	T	0.23833	-1.0177	9	0.72032	D	0.01	.	10.0645	0.42295	0.0:0.0:1.0:0.0	.	12;54;73;54;108	Q7Z6E1;P10072-2;P10072;B4DSY3;Q53EM3	.;.;HKR1_HUMAN;.;.	Q	12;54;108;73;12	ENSP00000375994:E54Q;ENSP00000315505:E73Q;ENSP00000438261:E12Q	ENSP00000315505:E73Q	E	+	1	0	HKR1	42530058	1.000000	0.71417	0.991000	0.47740	0.353000	0.29299	4.075000	0.57584	1.771000	0.52183	0.650000	0.86243	GAA		0.522	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	Missense_Mutation	21	40	0	0	0	0	21	40				
PLEKHG2	64857	broad.mit.edu	37	19	39913657	39913658	+	Missense_Mutation	DNP	CG	CG	TT	rs373554388		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:39913657_39913658CG>TT	ENST00000409794.3	+	18	2813_2814	c.1963_1964CG>TT	c.(1963-1965)CGc>TTc	p.R655F	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R626F|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R596F	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	655					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAAGGTTCTCGCCTTCCTAGT	0.53																																						uc010xuz.1		NA																	0				skin(2)|pancreas(1)|breast(1)	4						c.(1963-1965)CGC>TTC		common-site lymphoma/leukemia guanine nucleotide																																				SO:0001583	missense	64857				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:39913657_39913658CG>TT	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	Exception_encountered	19.37:g.39913657_39913658delinsTT	ENSP00000386733:p.Arg655Phe					PLEKHG2_uc010xuy.1_Missense_Mutation_p.R596F|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.R433F	p.R655F	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		18	2288_2289	+	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		655					B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	DNP	ENST00000409794.3	37	c.1963_1964CG>TT	CCDS33022.2																																																																																				0.530	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835		46	125	0	0	0	0	46	125				
CEACAM3	1084	broad.mit.edu	37	19	42312886	42312886	+	Missense_Mutation	SNP	G	G	A	rs377521292		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:42312886G>A	ENST00000357396.3	+	3	701	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A154T|CEACAM3_ENST00000344550.4_Missense_Mutation_p.A154T	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	154						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GGGGGCCGTCGCCGGCATCGT	0.607																																						uc002orn.1		NA																	0				skin(1)	1						c.(460-462)GCC>ACC		carcinoembryonic antigen-related cell adhesion		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	113.0	117.0	116.0		460	0.3	0.0	19		116	0,8600		0,0,4300	no	missense	CEACAM3	NM_001815.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	154/253	42312886	1,13005	2203	4300	6503	SO:0001583	missense	1084					integral to membrane		g.chr19:42312886G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.460G>A	19.37:g.42312886G>A	ENSP00000349971:p.Ala154Thr					CEACAM3_uc010eia.1_Missense_Mutation_p.A154T|CEACAM3_uc002oro.1_RNA	p.A154T	NM_001815	NP_001806	P40198	CEAM3_HUMAN			3	536	+			154			Extracellular (Potential).		G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.460G>A	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527784	0.27299	2.27E-4	0.0	ENSG00000170956	ENST00000357396;ENST00000221999;ENST00000344550	T;T;T	0.01685	4.69;4.73;4.73	2.79	0.354	0.16063	.	.	.	.	.	T	0.04048	0.0113	M	0.85777	2.775	0.09310	N	1	D;D	0.57899	0.981;0.968	P;B	0.50570	0.644;0.441	T	0.32134	-0.9918	9	0.09590	T	0.72	.	3.6759	0.08291	0.1499:0.0:0.6094:0.2406	.	154;154	G5E978;P40198	.;CEAM3_HUMAN	T	154	ENSP00000349971:A154T;ENSP00000221999:A154T;ENSP00000341725:A154T	ENSP00000221999:A154T	A	+	1	0	CEACAM3	47004726	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.769000	0.04710	0.011000	0.14865	0.514000	0.50259	GCC		0.607	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		7	250	0	0	0	0	7	250				
PSG11	5680	broad.mit.edu	37	19	43519501	43519501	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:43519501A>T	ENST00000401740.1	-	4	834	c.731T>A	c.(730-732)aTt>aAt	p.I244N	PSG11_ENST00000306322.7_Missense_Mutation_p.I122N|PSG11_ENST00000320078.7_Missense_Mutation_p.I244N|PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Missense_Mutation_p.I122N			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	242	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGAAGGGAAAATTCTGGGGAG	0.478																																						uc002ovm.1		NA																	0					0						c.(730-732)ATT>AAT		pregnancy specific beta-1-glycoprotein 11							110.0	122.0	118.0					19																	43519501		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43519501A>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.731T>A	19.37:g.43519501A>T	ENSP00000384995:p.Ile244Asn					PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.I250N|PSG11_uc002ovo.1_Missense_Mutation_p.I122N|PSG11_uc002ovp.1_Missense_Mutation_p.I122N	p.I244N	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			4	838	-		Prostate(69;0.00682)	244			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.731T>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	a	10.64	1.406811	0.25378	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94	0.961	0.961	0.19638	Immunoglobulin-like (1);	.	.	.	.	D	0.87204	0.6119	H	0.95645	3.7	0.09310	N	1	D;P	0.69078	0.997;0.798	D;P	0.77004	0.989;0.892	T	0.74051	-0.3789	9	0.87932	D	0	.	4.0663	0.09862	1.0:0.0:0.0:0.0	.	122;244	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	N	244;122;122;244	ENSP00000319140:I244N;ENSP00000385427:I122N;ENSP00000304913:I122N;ENSP00000384995:I244N	ENSP00000304913:I122N	I	-	2	0	PSG11	48211341	0.006000	0.16342	0.003000	0.11579	0.005000	0.04900	0.575000	0.23729	0.369000	0.24510	0.155000	0.16302	ATT		0.478	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		28	132	0	0	0	0	28	132				
KLC3	147700	broad.mit.edu	37	19	45852823	45852823	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:45852823C>A	ENST00000391946.2	+	8	1208	c.1106C>A	c.(1105-1107)cCc>cAc	p.P369H	KLC3_ENST00000585434.1_Missense_Mutation_p.P368H|KLC3_ENST00000470402.1_Missense_Mutation_p.P383H	NM_177417.2	NP_803136.2	Q6P597	KLC3_HUMAN	kinesin light chain 3	369					axon cargo transport (GO:0008088)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|motile cilium (GO:0031514)|neuron projection (GO:0043005)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTGGGCGGGCCCCATGACCCC	0.647																																						uc002pbf.1		NA																	0				ovary(1)	1						c.(1105-1107)CCC>CAC		kinesin light chain 3							37.0	44.0	42.0					19																	45852823		2121	4259	6380	SO:0001583	missense	147700					cytoplasm|kinesin complex|microtubule	microtubule motor activity	g.chr19:45852823C>A	AK092481	CCDS12660.2	19q13	2013-01-10			ENSG00000104892	ENSG00000104892		"""Tetratricopeptide (TTC) repeat domain containing"""	20717	protein-coding gene	gene with protein product		601334					Standard	XM_005258536		Approved	KLC2L, KNS2B, KLCt	uc002pbf.1	Q6P597	OTTHUMG00000143722	ENST00000391946.2:c.1106C>A	19.37:g.45852823C>A	ENSP00000375810:p.Pro369His					KLC3_uc010ejy.1_Missense_Mutation_p.P368H|KLC3_uc002pbg.1_Missense_Mutation_p.P383H	p.P369H	NM_177417	NP_803136	Q6P597	KLC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	1221	+		Ovarian(192;0.0728)|all_neural(266;0.112)	369					A0AVM3|A2RUT6|Q6GMU2|Q8NAL1|Q8WWJ9	Missense_Mutation	SNP	ENST00000391946.2	37	c.1106C>A	CCDS12660.2	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793046	0.70452	.	.	ENSG00000104892	ENST00000391946;ENST00000470402	D;D	0.85629	-2.0;-2.01	3.94	3.94	0.45596	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.90776	0.7104	M	0.76838	2.35	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.63793	0.866;0.866;0.918	D	0.91458	0.5187	10	0.54805	T	0.06	-0.0239	13.8987	0.63790	0.0:1.0:0.0:0.0	.	368;383;369	Q6P597-2;Q6P597-3;Q6P597	.;.;KLC3_HUMAN	H	369;383	ENSP00000375810:P369H;ENSP00000436019:P383H	ENSP00000375810:P369H	P	+	2	0	KLC3	50544663	1.000000	0.71417	0.988000	0.46212	0.687000	0.40016	7.604000	0.82830	2.194000	0.70268	0.462000	0.41574	CCC		0.647	KLC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289776.1	NM_145275		13	33	1	0	4.75e-09	9.4e-09	13	33				
TBC1D17	79735	broad.mit.edu	37	19	50390975	50390975	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:50390975G>T	ENST00000221543.5	+	15	1842	c.1543G>T	c.(1543-1545)Gtg>Ttg	p.V515L	TBC1D17_ENST00000535102.2_Splice_Site_p.V482L|MIR4750_ENST00000584564.1_RNA	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	515	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GCACCCTCAGGTGCTGTGGAC	0.682																																						uc002pqo.2		NA																	0					0						c.(1543-1545)GTG>TTG		TBC1 domain family, member 17							32.0	29.0	30.0					19																	50390975		2203	4300	6503	SO:0001630	splice_region_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50390975G>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1543-1G>T	19.37:g.50390975G>T						TBC1D17_uc010ybg.1_Missense_Mutation_p.V482L|TBC1D17_uc002pqp.2_Missense_Mutation_p.V166L|TBC1D17_uc002pqr.2_Missense_Mutation_p.V166L|TBC1D17_uc002pqs.2_RNA|IL4I1_uc002pqv.1_3'UTR|IL4I1_uc010eno.1_3'UTR|IL4I1_uc002pqw.1_3'UTR	p.V515L	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	15	1695	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	515			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	c.1543G>T	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153688	0.94645	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.10099	2.91;2.91	4.8	4.8	0.61643	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.33381	0.0861	M	0.76838	2.35	0.80722	D	1	D;D	0.69078	0.997;0.989	D;D	0.74348	0.983;0.93	T	0.03493	-1.1031	9	.	.	.	-28.3254	15.3813	0.74658	0.0:0.0:1.0:0.0	.	482;515	F5H1W7;Q9HA65	.;TBC17_HUMAN	L	515;482	ENSP00000221543:V515L;ENSP00000446323:V482L	.	V	+	1	0	TBC1D17	55082787	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.841000	0.92131	2.479000	0.83701	0.511000	0.50034	GTG		0.682	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682	Missense_Mutation	8	23	1	0	0.000157383	0.000272033	8	23				
SHANK1	50944	broad.mit.edu	37	19	51172432	51172432	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51172432G>T	ENST00000293441.1	-	22	2803	c.2785C>A	c.(2785-2787)Ccg>Acg	p.P929T	SHANK1_ENST00000391813.1_Missense_Mutation_p.P316T|SHANK1_ENST00000391814.1_Missense_Mutation_p.P937T|SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000359082.3_Missense_Mutation_p.P920T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGAGGCTCCGGTGGGGACGTG	0.667											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002psx.1		NA																	0				large_intestine(2)	2						c.(2785-2787)CCG>ACG		SH3 and multiple ankyrin repeat domains 1							23.0	24.0	24.0					19																	51172432		2202	4300	6502	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51172432G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2785C>A	19.37:g.51172432G>T	ENSP00000293441:p.Pro929Thr		OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	SHANK1_uc002psw.1_Missense_Mutation_p.P313T	p.P929T	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	2804	-		all_neural(266;0.057)	929					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2785C>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587402	0.28268	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.81078	-1.36;-1.4;-0.28;-1.45	3.2	3.2	0.36748	.	0.265874	0.29239	U	0.012731	D	0.83473	0.5262	L	0.34521	1.04	0.44181	D	0.996997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.84979	0.0887	10	0.62326	D	0.03	-6.734	13.5069	0.61489	0.0:0.0:1.0:0.0	.	929;316	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	T	929;316;920;937	ENSP00000293441:P929T;ENSP00000375689:P316T;ENSP00000351984:P920T;ENSP00000375690:P937T	ENSP00000293441:P929T	P	-	1	0	SHANK1	55864244	1.000000	0.71417	0.705000	0.30386	0.146000	0.21551	5.058000	0.64300	1.497000	0.48584	0.549000	0.68633	CCG		0.667	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	10	1	0	3.6e-05	6.37e-05	5	10				
SIGLEC7	27036	broad.mit.edu	37	19	51650065	51650065	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:51650065C>A	ENST00000317643.6	+	5	1151	c.1082C>A	c.(1081-1083)gCc>gAc	p.A361D	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.A268D	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	361					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGAGCTGGAGCCACAGCCCTG	0.577																																						uc002pvv.1		NA																	0				large_intestine(1)	1						c.(1081-1083)GCC>GAC		sialic acid binding Ig-like lectin 7 isoform 1							104.0	98.0	100.0					19																	51650065		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51650065C>A	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.1082C>A	19.37:g.51650065C>A	ENSP00000323328:p.Ala361Asp					SIGLEC7_uc002pvw.1_Missense_Mutation_p.A268D|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	p.A361D	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	5	1151	+		all_neural(266;0.0199)	361			Helical; (Potential).		Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.1082C>A	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	14.88	2.666500	0.47677	.	.	ENSG00000168995	ENST00000317643;ENST00000305628	T;T	0.04862	3.54;3.54	2.75	-5.49	0.02584	.	1.098330	0.07222	U	0.861108	T	0.11623	0.0283	M	0.76328	2.33	0.09310	N	1	D;D	0.62365	0.983;0.991	P;P	0.47470	0.539;0.548	T	0.12344	-1.0551	10	0.87932	D	0	.	9.7519	0.40481	0.0:0.734:0.0:0.266	.	268;361	Q9Y286-2;Q9Y286	.;SIGL7_HUMAN	D	361;268	ENSP00000323328:A361D;ENSP00000306757:A268D	ENSP00000306757:A268D	A	+	2	0	SIGLEC7	56341877	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-2.590000	0.00899	-1.432000	0.01979	-0.489000	0.04712	GCC		0.577	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		24	85	1	0	4.4e-07	8.38e-07	24	85				
ZNF808	388558	broad.mit.edu	37	19	53058333	53058333	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:53058333C>A	ENST00000359798.4	+	5	2344	c.2164C>A	c.(2164-2166)Ctt>Att	p.L722I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	722					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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGGTCATCCCTTGTATGCCA	0.443																																						uc010epq.1		NA																	0					0						c.(2164-2166)CTT>ATT		zinc finger protein 808							221.0	214.0	217.0					19																	53058333		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058333C>A	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2164C>A	19.37:g.53058333C>A	ENSP00000352846:p.Leu722Ile					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.L722I	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2341	+			722			C2H2-type 18.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.2164C>A	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	13.06	2.124935	0.37533	.	.	ENSG00000198482	ENST00000359798	T	0.53857	0.6	1.39	1.39	0.22231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67258	0.2874	M	0.75615	2.305	0.09310	N	1	P	0.42993	0.797	P	0.59357	0.856	T	0.56709	-0.7934	9	0.72032	D	0.01	.	9.6788	0.40056	0.0:1.0:0.0:0.0	.	722	Q8N4W9	ZN808_HUMAN	I	722	ENSP00000352846:L722I	ENSP00000352846:L722I	L	+	1	0	ZNF808	57750145	0.007000	0.16637	0.001000	0.08648	0.007000	0.05969	0.128000	0.15810	0.735000	0.32537	0.313000	0.20887	CTT		0.443	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		7	265	1	0	0.00307968	0.00495559	7	265				
NLRP12	91662	broad.mit.edu	37	19	54313274	54313275	+	Missense_Mutation	DNP	CG	CG	TC			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54313274_54313275CG>TC	ENST00000324134.6	-	3	1806_1807	c.1638_1639CG>GA	c.(1636-1641)acCGag>acGAag	p.E547K	NLRP12_ENST00000535162.1_Missense_Mutation_p.E547K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E547K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E547K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E547K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E547K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E547K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E547K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	547					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AACGCGTACTCGGTCAACAGCC	0.569																																						uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1636-1641)ACCGAG>ACGAAG		NLR family, pyrin domain containing 12 isoform																																				SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313274_54313275CG>TC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1638_1639delinsTC	19.37:g.54313274_54313275delinsTC	ENSP00000319377:p.Glu547Lys					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E547K|NLRP12_uc002qcj.3_Missense_Mutation_p.E547K|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E547K	p.E547K	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1858_1859	-	Ovarian(34;0.19)		547					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	DNP	ENST00000324134.6	37	c.1638_1639CG>GA	CCDS12864.1																																																																																				0.569	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		44	86	0	0	0	0	44	86				
CACNG6	59285	broad.mit.edu	37	19	54515287	54515287	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54515287G>T	ENST00000252729.2	+	4	1217	c.627G>T	c.(625-627)ccG>ccT	p.P209P	CACNG6_ENST00000352529.1_Silent_p.P138P|CACNG6_ENST00000346968.2_Silent_p.P163P	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	209					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		AGCCTCCCCCGGCCCCACGCC	0.692																																						uc002qct.2		NA																	0				ovary(2)	2						c.(625-627)CCG>CCT		voltage-dependent calcium channel gamma-6							27.0	31.0	30.0					19																	54515287		2203	4297	6500	SO:0001819	synonymous_variant	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54515287G>T	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.627G>T	19.37:g.54515287G>T						CACNG6_uc002qcu.2_Silent_p.P163P|CACNG6_uc002qcv.2_Silent_p.P138P	p.P209P	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	4	1217	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		209						Silent	SNP	ENST00000252729.2	37	c.627G>T	CCDS12870.1																																																																																				0.692	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1			15	60	1	0	3.41e-10	6.92e-10	15	60				
CNOT3	4849	broad.mit.edu	37	19	54646740	54646740	+	Splice_Site	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:54646740G>T	ENST00000406403.1	+	1	1628		c.e1+1		CNOT3_ENST00000358389.3_Splice_Site|CNOT3_ENST00000221232.5_Splice_Site			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAACTCCAAGGTACTAGACTG	0.537																																						uc002qdj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.e2+1		CCR4-NOT transcription complex, subunit 3							202.0	166.0	178.0					19																	54646740		2203	4300	6503	SO:0001630	splice_region_variant	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646740G>T	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.25+1G>T	19.37:g.54646740G>T						CNOT3_uc010yel.1_Splice_Site_p.G9_splice|CNOT3_uc002qdi.2_Splice_Site|CNOT3_uc002qdk.1_Splice_Site_p.G9_splice|CNOT3_uc010ere.1_5'Flank	p.G9_splice	NM_014516	NP_055331	O75175	CNOT3_HUMAN			2	336	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)							Q9NZN7|Q9UF76	Splice_Site	SNP	ENST00000406403.1	37	c.25_splice	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806095	0.70682	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3142	0.74059	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNOT3	59338552	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	.		0.537	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516	Intron	20	81	1	0	1.96e-10	4e-10	20	81				
PEG3	5178	broad.mit.edu	37	19	57328850	57328850	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:57328850C>G	ENST00000326441.9	-	10	1323	c.960G>C	c.(958-960)aaG>aaC	p.K320N	PEG3_ENST00000598410.1_Missense_Mutation_p.K196N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K320N|PEG3_ENST00000593695.1_Missense_Mutation_p.K194N	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	320					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGACACATCCTTGATGAATT	0.463																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(958-960)AAG>AAC		paternally expressed 3 isoform 1							70.0	71.0	71.0					19																	57328850		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328850C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.960G>C	19.37:g.57328850C>G	ENSP00000326581:p.Lys320Asn					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.K291N|PEG3_uc002qnv.2_Missense_Mutation_p.K320N|PEG3_uc002qnw.2_Missense_Mutation_p.K196N|PEG3_uc002qnx.2_Missense_Mutation_p.K194N|PEG3_uc010etr.2_Missense_Mutation_p.K320N	p.K320N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1311	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	320					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.960G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603382	0.46423	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02974	4.09;4.09	4.27	2.13	0.27403	.	0.157081	0.30791	N	0.008863	T	0.04998	0.0134	L	0.27053	0.805	.	.	.	P;P;D	0.76494	0.845;0.745;0.999	B;B;D	0.80764	0.348;0.265;0.994	T	0.39663	-0.9603	9	0.28530	T	0.3	-34.2943	3.6566	0.08223	0.1979:0.6019:0.0:0.2002	.	196;320;255	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	N	320;320;290	ENSP00000326581:K320N;ENSP00000403051:K320N	ENSP00000292074:K290N	K	-	3	2	ZIM2	62020662	0.045000	0.20229	0.996000	0.52242	0.608000	0.37181	0.362000	0.20284	0.735000	0.32537	-0.314000	0.08810	AAG		0.463	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			37	92	0	0	0	0	37	92				
MYT1L	23040	broad.mit.edu	37	2	1796146	1796146	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:1796146T>C	ENST00000399161.2	-	24	4114	c.3367A>G	c.(3367-3369)Aac>Gac	p.N1123D	MYT1L_ENST00000428368.2_Missense_Mutation_p.N1121D|MYT1L_ENST00000407844.1_Missense_Mutation_p.N121D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1123					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGCTCAGGTTCGCCAGCTCG	0.547																																						uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(3367-3369)AAC>GAC		myelin transcription factor 1-like							78.0	85.0	82.0					2																	1796146		2077	4226	6303	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1796146T>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3367A>G	2.37:g.1796146T>C	ENSP00000382114:p.Asn1123Asp					MYT1L_uc002qxd.2_Missense_Mutation_p.N1121D|MYT1L_uc010ewk.2_Missense_Mutation_p.N121D	p.N1123D	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	24	4194	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1123			Potential.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.3367A>G		.	.	.	.	.	.	.	.	.	.	T	23.0	4.367084	0.82463	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000407844;ENST00000399157;ENST00000428368	T;T;T	0.45276	0.9;1.48;0.9	5.5	5.5	0.81552	.	0.125962	0.64402	D	0.000001	T	0.52370	0.1730	L	0.47716	1.5	0.53688	D	0.999972	P;D;D	0.60575	0.634;0.979;0.988	B;P;P	0.56216	0.215;0.628;0.794	T	0.55055	-0.8200	10	0.66056	D	0.02	-34.5138	15.5926	0.76550	0.0:0.0:0.0:1.0	.	121;1123;1121	Q9UL68-3;Q9UL68;Q9UL68-4	.;MYT1L_HUMAN;.	D	1123;1069;121;177;1121	ENSP00000382114:N1123D;ENSP00000382111:N177D;ENSP00000396103:N1121D	ENSP00000295067:N1069D	N	-	1	0	MYT1L	1775153	1.000000	0.71417	0.976000	0.42696	0.770000	0.43624	6.192000	0.72069	2.079000	0.62486	0.533000	0.62120	AAC		0.547	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	12	0	0	0	0	5	12				
RHOB	388	broad.mit.edu	37	2	20647664	20647664	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:20647664C>A	ENST00000272233.4	+	1	830	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	146					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	ACGGCCGCGCCATGGCCGTGC	0.662																																						uc002rdv.2		NA																	0				ovary(1)|lung(1)	2						c.(436-438)GCC>GCA		ras homolog gene family, member B precursor							63.0	66.0	65.0					2																	20647664		2203	4297	6500	SO:0001819	synonymous_variant	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647664C>A		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.438C>A	2.37:g.20647664C>A							p.A146A	NM_004040	NP_004031	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	830	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	146					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Silent	SNP	ENST00000272233.4	37	c.438C>A	CCDS1699.1																																																																																				0.662	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		44	94	1	0	9.39e-22	2.08e-21	44	94				
APOB	338	broad.mit.edu	37	2	21231924	21231924	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:21231924C>T	ENST00000233242.1	-	26	7943	c.7816G>A	c.(7816-7818)Gct>Act	p.A2606T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2606					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTGAAGAGCCTGAAGACTG	0.418																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7816-7818)GCT>ACT		apolipoprotein B precursor	Atorvastatin(DB01076)						88.0	85.0	86.0					2																	21231924		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231924C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7816G>A	2.37:g.21231924C>T	ENSP00000233242:p.Ala2606Thr						p.A2606T	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7944	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2606					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7816G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479161	0.63849	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00832	5.64	5.16	4.25	0.50352	.	0.240721	0.29806	N	0.011154	T	0.03390	0.0098	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.63113	0.911	T	0.39418	-0.9615	10	0.66056	D	0.02	.	9.1081	0.36710	0.1468:0.7705:0.0:0.0827	.	2606	P04114	APOB_HUMAN	T	2606	ENSP00000233242:A2606T	ENSP00000233242:A2606T	A	-	1	0	APOB	21085429	0.961000	0.32948	0.620000	0.29132	0.849000	0.48306	2.249000	0.43169	2.404000	0.81709	0.561000	0.74099	GCT		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			28	65	0	0	0	0	28	65				
MAP4K3	8491	broad.mit.edu	37	2	39505576	39505576	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:39505576T>C	ENST00000263881.3	-	24	2090	c.1766A>G	c.(1765-1767)aAt>aGt	p.N589S	MAP4K3_ENST00000437545.1_Missense_Mutation_p.N505S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.N568S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N142S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	589	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ATGAAGTTCATTAAGATTGAG	0.264																																						uc002rro.2		NA																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1765-1767)AAT>AGT		mitogen-activated protein kinase kinase kinase							59.0	56.0	57.0					2																	39505576		2201	4294	6495	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39505576T>C	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1766A>G	2.37:g.39505576T>C	ENSP00000263881:p.Asn589Ser					MAP4K3_uc002rrp.2_Missense_Mutation_p.N568S|MAP4K3_uc010yns.1_Missense_Mutation_p.N142S	p.N589S	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			24	1857	-		all_hematologic(82;0.211)	589			CNH.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1766A>G	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	t	22.3	4.266499	0.80358	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.41	5.41	0.78517	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.91635	0.917;0.999	T	0.01341	-1.1380	10	0.27785	T	0.31	.	15.4693	0.75429	0.0:0.0:0.0:1.0	.	568;589	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	S	589;505;568;142	ENSP00000263881:N589S;ENSP00000416958:N505S;ENSP00000345434:N568S;ENSP00000440580:N142S	ENSP00000263881:N589S	N	-	2	0	MAP4K3	39359080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.922000	0.87538	2.040000	0.60383	0.529000	0.55759	AAT		0.264	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618		3	22	0	0	0	0	3	22				
COX7A2L	9167	broad.mit.edu	37	2	42580403	42580403	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:42580403C>A	ENST00000378669.1	-	3	982	c.153G>T	c.(151-153)gtG>gtT	p.V51V	COX7A2L_ENST00000234301.2_Silent_p.V51V|COX7A2L_ENST00000482463.1_5'UTR|COX7A2L_ENST00000463055.1_Silent_p.V51V			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	51					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						CATAATCATACACTGTGGAAT	0.403																																						uc002rsk.2		NA																	0					0						c.(151-153)GTG>GTT		cytochrome c oxidase subunit VIIa polypeptide 2							104.0	100.0	102.0					2																	42580403		2203	4300	6503	SO:0001819	synonymous_variant	9167				respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr2:42580403C>A	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.153G>T	2.37:g.42580403C>A						COX7A2L_uc002rsl.2_RNA	p.V51V	NM_004718	NP_004709	O14548	COX7R_HUMAN			2	208	-			51					Q9P118	Silent	SNP	ENST00000378669.1	37	c.153G>T	CCDS1808.1																																																																																				0.403	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	NM_004718		16	57	1	0	2.23e-06	4.13e-06	16	57				
ABCG8	64241	broad.mit.edu	37	2	44104829	44104829	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:44104829T>A	ENST00000272286.2	+	12	1974		c.e12+2			NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8						ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGAGATAAAGTAAGCGGGGAA	0.507											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.e12+2		ATP-binding cassette sub-family G member 8							97.0	100.0	99.0					2																	44104829		2203	4300	6503	SO:0001630	splice_region_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44104829T>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1884+2T>A	2.37:g.44104829T>A			OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	921	ABCG8_uc010yoa.1_Splice_Site_p.K627_splice	p.K628_splice	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			12	1974	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						Q53QN8	Splice_Site	SNP	ENST00000272286.2	37	c.1884_splice	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233291	0.39498	.	.	ENSG00000143921	ENST00000272286	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4209	0.67183	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCG8	43958333	1.000000	0.71417	0.973000	0.42090	0.063000	0.16089	6.696000	0.74598	2.001000	0.58596	0.482000	0.46254	.		0.507	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	Intron	22	81	0	0	0	0	22	81				
FSHR	2492	broad.mit.edu	37	2	49189901	49189901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49189901C>G	ENST00000406846.2	-	10	2178	c.2059G>C	c.(2059-2061)Gtc>Ctc	p.V687L	FSHR_ENST00000541117.1_Missense_Mutation_p.V423L|FSHR_ENST00000346173.3_Missense_Mutation_p.V625L|FSHR_ENST00000304421.4_Missense_Mutation_p.V661L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	687					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTTAGAGGGACAAGTATGTAA	0.418									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(2059-2061)GTC>CTC		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						132.0	127.0	129.0					2																	49189901		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49189901C>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.2059G>C	2.37:g.49189901C>G	ENSP00000384708:p.Val687Leu					FSHR_uc002rwx.2_Missense_Mutation_p.V625L|FSHR_uc010fbn.2_Missense_Mutation_p.V661L	p.V687L	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	2133	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	687			Cytoplasmic (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.2059G>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	8.066	0.769246	0.15983	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.73047	-0.54;-0.65;-0.53;-0.71	5.35	2.53	0.30540	.	0.563167	0.18073	N	0.152565	T	0.63474	0.2514	L	0.59912	1.85	0.41175	D	0.986197	B;B;B	0.23442	0.085;0.032;0.085	B;B;B	0.25759	0.062;0.063;0.062	T	0.54951	-0.8216	9	.	.	.	.	9.2784	0.37714	0.0:0.7617:0.0:0.2383	.	661;625;687	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	687;625;661;423	ENSP00000384708:V687L;ENSP00000333908:V625L;ENSP00000306780:V661L;ENSP00000444172:V423L	.	V	-	1	0	FSHR	49043405	0.502000	0.26107	0.480000	0.27341	0.726000	0.41606	1.406000	0.34646	0.459000	0.27016	-0.140000	0.14226	GTC		0.418	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			13	44	0	0	0	0	13	44				
FSHR	2492	broad.mit.edu	37	2	49381534	49381534	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:49381534A>G	ENST00000406846.2	-	1	142	c.23T>C	c.(22-24)tTg>tCg	p.L8S	FSHR_ENST00000346173.3_Missense_Mutation_p.L8S|FSHR_ENST00000304421.4_Missense_Mutation_p.L8S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	8					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GAATGCCAGCAAAGAGACCAG	0.488									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NA																	0				ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(22-24)TTG>TCG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						79.0	84.0	82.0					2																	49381534		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381534A>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.23T>C	2.37:g.49381534A>G	ENSP00000384708:p.Leu8Ser					FSHR_uc002rwx.2_Missense_Mutation_p.L8S|FSHR_uc010fbn.2_Missense_Mutation_p.L8S|FSHR_uc010fbo.1_RNA	p.L8S	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	97	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	8					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.23T>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.526374	0.27299	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	T;T;T;T	0.75154	-0.83;-0.91;-0.77;-0.01	5.46	0.232	0.15381	.	0.733871	0.12795	N	0.438497	T	0.65647	0.2711	M	0.65498	2.005	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.52260	-0.8599	9	.	.	.	.	4.4848	0.11785	0.5005:0.327:0.1724:0.0	.	8;8;8	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	S	8	ENSP00000384708:L8S;ENSP00000333908:L8S;ENSP00000306780:L8S;ENSP00000415504:L8S	.	L	-	2	0	FSHR	49235038	0.991000	0.36638	0.031000	0.17742	0.727000	0.41649	1.753000	0.38359	-0.089000	0.12484	0.533000	0.62120	TTG		0.488	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			9	45	0	0	0	0	9	45				
NRXN1	9378	broad.mit.edu	37	2	50780107	50780107	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780107T>A	ENST00000406316.2	-	9	2853	c.1377A>T	c.(1375-1377)ggA>ggT	p.G459G	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Silent_p.G459G|NRXN1_ENST00000405472.3_Silent_p.G451G|NRXN1_ENST00000402717.3_Silent_p.G451G|NRXN1_ENST00000406859.3_Silent_p.G459G|NRXN1_ENST00000404971.1_Silent_p.G499G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	459	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTAGGATCTCCTTGCTTGG	0.408																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(1495-1497)GGA>GGT		neurexin 1 isoform alpha2 precursor							131.0	123.0	125.0					2																	50780107		1878	4125	6003	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50780107T>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1377A>T	2.37:g.50780107T>A						NRXN1_uc002rxb.3_Silent_p.G131G|NRXN1_uc002rxe.3_Silent_p.G459G|NRXN1_uc002rxc.1_RNA	p.G499G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	2974	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1497A>T	CCDS54360.1																																																																																				0.408	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			36	130	0	0	0	0	36	130				
NRXN1	9378	broad.mit.edu	37	2	50780123	50780123	+	Missense_Mutation	SNP	C	C	A	rs199592328		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:50780123C>A	ENST00000406316.2	-	9	2837	c.1361G>T	c.(1360-1362)cGa>cTa	p.R454L	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.R454L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R446L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R446L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R454L|NRXN1_ENST00000404971.1_Missense_Mutation_p.R494L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	454	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTGGCAAGTCGAGATAATTC	0.403																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(1480-1482)CGA>CTA		neurexin 1 isoform alpha2 precursor							123.0	115.0	118.0					2																	50780123		1872	4131	6003	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50780123C>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1361G>T	2.37:g.50780123C>A	ENSP00000384311:p.Arg454Leu					NRXN1_uc002rxb.3_Missense_Mutation_p.R126L|NRXN1_uc002rxe.3_Missense_Mutation_p.R454L|NRXN1_uc002rxc.1_RNA	p.R494L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	2958	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1481G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646485	0.87958	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.71817	0.13;0.09;-0.6;-0.49;-0.19;-0.05	5.72	5.72	0.89469	.	0.063062	0.64402	D	0.000005	T	0.81880	0.4916	L	0.53249	1.67	0.42100	D	0.991334	D;D;D	0.76494	0.997;0.998;0.999	P;D;P	0.70716	0.841;0.97;0.689	T	0.81156	-0.1061	10	0.49607	T	0.09	.	19.877	0.96880	0.0:1.0:0.0:0.0	.	494;454;446	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	494;454;446;454;495;446;454	ENSP00000385142:R494L;ENSP00000384311:R454L;ENSP00000434015:R446L;ENSP00000385017:R454L;ENSP00000385434:R446L;ENSP00000385681:R454L	ENSP00000385017:R454L	R	-	2	0	NRXN1	50633627	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.970000	0.63742	2.696000	0.92011	0.650000	0.86243	CGA		0.403	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			32	137	1	0	6.85e-11	1.4e-10	32	137				
DYSF	8291	broad.mit.edu	37	2	71795363	71795363	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:71795363C>A	ENST00000258104.3	+	26	2982	c.2705C>A	c.(2704-2706)cCc>cAc	p.P902H	DYSF_ENST00000409582.3_Missense_Mutation_p.P919H|DYSF_ENST00000413539.2_Missense_Mutation_p.P933H|DYSF_ENST00000409762.1_Missense_Mutation_p.P919H|DYSF_ENST00000409651.1_Missense_Mutation_p.P934H|DYSF_ENST00000409744.1_Missense_Mutation_p.P889H|DYSF_ENST00000410041.1_Missense_Mutation_p.P920H|DYSF_ENST00000429174.2_Missense_Mutation_p.P902H|DYSF_ENST00000410020.3_Missense_Mutation_p.P920H|DYSF_ENST00000394120.2_Missense_Mutation_p.P903H|DYSF_ENST00000409366.1_Missense_Mutation_p.P903H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	902					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCACCTACCCCAAGTTTTCT	0.607																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2704-2706)CCC>CAC		dysferlin isoform 8							176.0	179.0	178.0					2																	71795363		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795363C>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2705C>A	2.37:g.71795363C>A	ENSP00000258104:p.Pro902His					DYSF_uc010feg.2_Missense_Mutation_p.P933H|DYSF_uc010feh.2_Missense_Mutation_p.P888H|DYSF_uc002sig.3_Missense_Mutation_p.P888H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.P902H|DYSF_uc010fef.2_Missense_Mutation_p.P919H|DYSF_uc010fei.2_Missense_Mutation_p.P919H|DYSF_uc010fek.2_Missense_Mutation_p.P920H|DYSF_uc010fej.2_Missense_Mutation_p.P889H|DYSF_uc010fel.2_Missense_Mutation_p.P889H|DYSF_uc010feo.2_Missense_Mutation_p.P934H|DYSF_uc010fem.2_Missense_Mutation_p.P903H|DYSF_uc010fen.2_Missense_Mutation_p.P920H|DYSF_uc002sif.2_Missense_Mutation_p.P903H	p.P902H	NM_003494	NP_003485	O75923	DYSF_HUMAN			26	3081	+			902			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2705C>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093771	0.36952	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.71;-1.72;-1.72;-1.72;-1.71;-1.71;-1.71;-1.72;-1.72;-1.72;-1.72	4.94	4.94	0.65067	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.86293	0.5898	L	0.39514	1.22	0.52501	D	0.999954	D;D;D;D;B;B;B;P;D;P;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.018;0.018;0.018;0.521;1.0;0.778;1.0;1.0;1.0;1.0	D;D;D;D;B;B;B;P;D;P;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.132;0.091;0.132;0.594;1.0;0.498;1.0;1.0;1.0;0.999	T	0.82882	-0.0237	10	0.18710	T	0.47	-25.318	15.669	0.77258	0.0:1.0:0.0:0.0	.	934;920;903;889;920;889;919;888;933;919;902;888;903;902	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	933;919;919;902;902;934;903;889;903;920;920	ENSP00000407046:P933H;ENSP00000387137:P919H;ENSP00000386547:P919H;ENSP00000398305:P902H;ENSP00000258104:P902H;ENSP00000386683:P934H;ENSP00000377678:P903H;ENSP00000386285:P889H;ENSP00000386512:P903H;ENSP00000386881:P920H;ENSP00000386617:P920H	ENSP00000258104:P902H	P	+	2	0	DYSF	71648871	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.550000	0.60733	2.288000	0.76882	0.448000	0.29417	CCC		0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		67	227	1	0	2.02e-26	4.52e-26	67	227				
CYP26B1	56603	broad.mit.edu	37	2	72361997	72361997	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:72361997G>A	ENST00000001146.2	-	4	957	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R61W|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R177W	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	252					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)	p.R252R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						AGCTTCTCCCGGATGGCCTTC	0.602																																						uc002sih.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(754-756)CGG>TGG		cytochrome P450, family 26, subfamily b,							147.0	117.0	127.0					2																	72361997		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72361997G>A		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.754C>T	2.37:g.72361997G>A	ENSP00000001146:p.Arg252Trp					CYP26B1_uc010yra.1_Missense_Mutation_p.R235W|CYP26B1_uc010yrb.1_Missense_Mutation_p.R177W	p.R252W	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN			4	754	-			252					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.754C>T	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620757	0.87460	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	T;T;T;T	0.69806	-0.4;-0.4;-0.4;-0.43	5.11	3.24	0.37175	.	0.116264	0.56097	D	0.000021	T	0.75824	0.3902	M	0.66439	2.03	0.44110	D	0.996883	D;D;D	0.65815	0.991;0.995;0.987	P;P;P	0.58970	0.773;0.849;0.773	T	0.77811	-0.2449	10	0.87932	D	0	-11.7251	13.0799	0.59107	0.0:0.0:0.7195:0.2805	.	177;235;252	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	W	252;61;177;177	ENSP00000001146:R252W;ENSP00000401465:R61W;ENSP00000443304:R177W;ENSP00000430888:R177W	ENSP00000001146:R252W	R	-	1	2	CYP26B1	72215505	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.551000	0.53698	0.611000	0.30052	0.655000	0.94253	CGG		0.602	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		18	36	0	0	0	0	18	36				
ALMS1	7840	broad.mit.edu	37	2	73777441	73777441	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:73777441A>C	ENST00000264448.6	+	13	10063	c.9952A>C	c.(9952-9954)Aca>Cca	p.T3318P	ALMS1_ENST00000409009.1_Missense_Mutation_p.T3276P	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3318					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGTGCTAGGCACAAGAGATGA	0.438																																						uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(9958-9960)ACA>CCA		Alstrom syndrome 1							109.0	101.0	104.0					2																	73777441		1925	4131	6056	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73777441A>C	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9952A>C	2.37:g.73777441A>C	ENSP00000264448:p.Thr3318Pro					ALMS1_uc002sjf.1_Missense_Mutation_p.T3276P|ALMS1_uc002sjg.2_Missense_Mutation_p.T2706P|ALMS1_uc002sjh.1_Missense_Mutation_p.T2706P|ALMS1_uc010fev.1_Intron	p.T3320P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			15	10069	+			3318					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.9958A>C	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833989	0.71373	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.07114	3.22;3.22	5.83	4.61	0.57282	.	0.000000	0.50627	D	0.000114	T	0.19805	0.0476	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.996;0.996;0.981	T	0.00273	-1.1858	10	0.87932	D	0	.	9.3474	0.38118	0.8197:0.1803:0.0:0.0	.	3318;3276;3318	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	P	3276;3318	ENSP00000386627:T3276P;ENSP00000264448:T3318P	ENSP00000264448:T3318P	T	+	1	0	ALMS1	73630949	0.802000	0.28943	0.995000	0.50966	0.863000	0.49368	1.358000	0.34102	2.229000	0.72834	0.533000	0.62120	ACA		0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		16	60	0	0	0	0	16	60				
REG1B	5968	broad.mit.edu	37	2	79312665	79312665	+	Missense_Mutation	SNP	G	G	C	rs557572155		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:79312665G>C	ENST00000305089.3	-	5	466	c.386C>G	c.(385-387)cCg>cGg	p.P129R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	129	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGCACTGCTCGGGGATCCAGT	0.557																																						uc002sny.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(385-387)CCG>CGG		regenerating islet-derived 1 beta precursor							89.0	81.0	84.0					2																	79312665		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312665G>C		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.386C>G	2.37:g.79312665G>C	ENSP00000303206:p.Pro129Arg						p.P129R	NM_006507	NP_006498	P48304	REG1B_HUMAN			5	498	-			129			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.386C>G	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	g	13.55	2.269612	0.40095	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.16457	2.34;2.34	3.78	2.89	0.33648	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.198465	0.24999	N	0.033923	T	0.45558	0.1348	M	0.92459	3.31	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.34725	-0.9817	10	0.87932	D	0	.	7.1862	0.25801	0.1268:0.0:0.8732:0.0	.	129	P48304	REG1B_HUMAN	R	80;129	ENSP00000387410:P80R;ENSP00000303206:P129R	ENSP00000303206:P129R	P	-	2	0	REG1B	79166173	0.515000	0.26210	0.001000	0.08648	0.025000	0.11179	1.970000	0.40520	0.921000	0.36994	0.491000	0.48974	CCG		0.557	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		15	51	0	0	0	0	15	51				
TGOLN2	10618	broad.mit.edu	37	2	85554620	85554620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:85554620C>T	ENST00000409232.3	-	2	296	c.235G>A	c.(235-237)Gac>Aac	p.D79N	TGOLN2_ENST00000398263.2_Missense_Mutation_p.D79N|TGOLN2_ENST00000444342.2_Missense_Mutation_p.D79N|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Missense_Mutation_p.D79N|TGOLN2_ENST00000409015.1_Missense_Mutation_p.D79N			O43493	TGON2_HUMAN	trans-golgi network protein 2	79	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGGGGGTGTCTTCTGGGGTC	0.592																																						uc010fgd.1		NA																	0					0						c.(235-237)GAC>AAC		trans-golgi network protein 2							206.0	206.0	206.0					2																	85554620		1940	4144	6084	SO:0001583	missense	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554620C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.235G>A	2.37:g.85554620C>T	ENSP00000386443:p.Asp79Asn					TGOLN2_uc002soz.2_Missense_Mutation_p.D79N|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.D79N|TGOLN2_uc002spc.1_Missense_Mutation_p.D79N	p.D79N	NM_006464	NP_006455	O43493	TGON2_HUMAN			2	524	-			79			Extracellular (Potential).|14 X 14 AA tandem repeats.|2.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Missense_Mutation	SNP	ENST00000409232.3	37	c.235G>A	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	C	8.316	0.823221	0.16678	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	T;T;T;T;T	0.13089	2.68;2.62;2.62;2.69;2.67	2.24	-0.654	0.11443	.	.	.	.	.	T	0.12135	0.0295	L	0.58101	1.795	0.09310	N	0.999998	B;B;B;B	0.32573	0.376;0.22;0.376;0.22	B;B;B;B	0.32465	0.094;0.028;0.146;0.028	T	0.29882	-0.9997	9	0.25751	T	0.34	1.094	6.0472	0.19766	0.0:0.3937:0.0:0.6063	.	79;79;79;79	O43493;O43493-5;O43493-4;O43493-2	TGON2_HUMAN;.;.;.	N	79	ENSP00000366603:D79N;ENSP00000381312:D79N;ENSP00000386443:D79N;ENSP00000387035:D79N;ENSP00000391190:D79N	ENSP00000366603:D79N	D	-	1	0	TGOLN2	85408131	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.700000	0.00824	-0.188000	0.10499	0.453000	0.30009	GAC		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		127	378	0	0	0	0	127	378				
FER1L5	90342	broad.mit.edu	37	2	97361322	97361322	+	RNA	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:97361322T>A	ENST00000457909.1	+	0	3321							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAAGAGTCCCTGAGGACAGAA	0.592																																						uc010fia.2		NA																	0				ovary(1)	1						c.(3898-3900)CTG>CAG		fer-1-like 5 isoform 2							25.0	28.0	27.0					2																	97361322		1881	4097	5978			90342					integral to membrane		g.chr2:97361322T>A	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97361322T>A						FER1L5_uc002sws.3_Missense_Mutation_p.L18Q|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.L18Q|FER1L5_uc010yus.1_Missense_Mutation_p.L18Q	p.L1300Q	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			34	3899	+			1300					Q17RH2|Q6ZU24	Missense_Mutation	SNP	ENST00000457909.1	37	c.3899T>A		.	.	.	.	.	.	.	.	.	.	T	11.22	1.574710	0.28092	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.45	1.88	0.25563	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.980099	0.08256	N	0.973770	T	0.48607	0.1509	L	0.50919	1.6	.	.	.	B;D;B	0.54772	0.192;0.968;0.16	B;P;B	0.55999	0.12;0.789;0.073	T	0.46925	-0.9156	8	0.45353	T	0.12	-1.9567	5.71	0.17929	0.1683:0.0:0.1755:0.6562	.	18;1300;18	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	Q	1300;1314;18	.	ENSP00000442027:L18Q	L	+	2	0	FER1L5	96725049	0.277000	0.24220	0.010000	0.14722	0.951000	0.60555	2.452000	0.44961	0.201000	0.20466	0.374000	0.22700	CTG		0.592	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400		4	10	0	0	0	0	4	10				
CKAP2L	150468	broad.mit.edu	37	2	113514482	113514482	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:113514482C>A	ENST00000302450.6	-	4	544	c.466G>T	c.(466-468)Gat>Tat	p.D156Y	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	156						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCCTTGATCTGTTAACTGC	0.353																																						uc002tie.2		NA																	0					0						c.(466-468)GAT>TAT		cytoskeleton associated protein 2-like							77.0	82.0	80.0					2																	113514482		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514482C>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.466G>T	2.37:g.113514482C>A	ENSP00000305204:p.Asp156Tyr					CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	p.D156Y	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	545	-			156					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.466G>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197514	0.22037	.	.	ENSG00000169607	ENST00000302450	T	0.06294	3.32	5.05	-0.0493	0.13835	.	0.763397	0.11808	N	0.527460	T	0.07143	0.0181	L	0.60455	1.87	0.09310	N	0.999999	B	0.31859	0.343	B	0.32465	0.146	T	0.31558	-0.9939	10	0.38643	T	0.18	0.0083	5.9766	0.19382	0.0:0.4857:0.2663:0.248	.	156	Q8IYA6	CKP2L_HUMAN	Y	156	ENSP00000305204:D156Y	ENSP00000305204:D156Y	D	-	1	0	CKAP2L	113230953	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.090000	0.15025	-0.122000	0.11766	-1.128000	0.01989	GAT		0.353	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		15	68	1	0	0.000219431	0.00037828	15	68				
ERCC3	2071	broad.mit.edu	37	2	128036885	128036885	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:128036885A>G	ENST00000285398.2	-	10	1688	c.1594T>C	c.(1594-1596)Ttg>Ctg	p.L532L	ERCC3_ENST00000493187.2_Silent_p.L468L	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	532					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTGTACAGCAAGATTCGTTTC	0.403			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1		NA	yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	Mis|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		skin basal cell|skin squamous cell|melanoma			0				ovary(2)|lung(2)|breast(2)|kidney(1)	7						c.(1594-1596)TTG>CTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							141.0	123.0	129.0					2																	128036885		2203	4300	6503	SO:0001819	synonymous_variant	2071	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128036885A>G	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1594T>C	2.37:g.128036885A>G						ERCC3_uc002toe.1_Silent_p.L287L|ERCC3_uc002tof.1_Silent_p.L468L|ERCC3_uc002tog.1_Silent_p.L468L	p.L532L	NM_000122	NP_000113	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	10	1689	-	Colorectal(110;0.1)		532					Q53QM0	Silent	SNP	ENST00000285398.2	37	c.1594T>C	CCDS2144.1																																																																																				0.403	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		10	38	0	0	0	0	10	38				
THSD7B	80731	broad.mit.edu	37	2	137814036	137814036	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137814036G>T	ENST00000409968.1	+	3	364	c.186G>T	c.(184-186)caG>caT	p.Q62H	THSD7B_ENST00000272643.3_Missense_Mutation_p.Q62H|THSD7B_ENST00000543459.1_5'Flank|THSD7B_ENST00000413152.2_Missense_Mutation_p.Q31H			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	62	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGGAGTCCAGAGTCGGGCAG	0.498																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(91-93)CAG>CAT		thrombospondin, type I, domain containing 7B							65.0	69.0	68.0					2																	137814036		2002	4177	6179	SO:0001583	missense	80731							g.chr2:137814036G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.186G>T	2.37:g.137814036G>T	ENSP00000387145:p.Gln62His					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	p.Q31H	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	93	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.93G>T		.	.	.	.	.	.	.	.	.	.	G	18.76	3.693093	0.68271	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.65178	-0.14;-0.14;-0.14	5.89	2.05	0.26809	.	0.092853	0.42682	U	0.000670	T	0.77018	0.4069	M	0.87381	2.88	0.80722	D	1	D	0.76494	0.999	D	0.66497	0.944	T	0.78365	-0.2232	10	0.66056	D	0.02	.	9.2691	0.37659	0.391:0.0:0.609:0.0	.	31	C9JKN6	.	H	62;62;31	ENSP00000387145:Q62H;ENSP00000272643:Q62H;ENSP00000413841:Q31H	ENSP00000272643:Q62H	Q	+	3	2	THSD7B	137530506	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	2.004000	0.40854	0.813000	0.34350	0.585000	0.79938	CAG		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		14	51	1	0	8.6e-14	1.8e-13	14	51				
THSD7B	80731	broad.mit.edu	37	2	137852609	137852609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:137852609A>G	ENST00000409968.1	+	4	1295	c.1117A>G	c.(1117-1119)Att>Gtt	p.I373V	THSD7B_ENST00000272643.3_Missense_Mutation_p.I373V|THSD7B_ENST00000543459.1_Missense_Mutation_p.I232V|THSD7B_ENST00000413152.2_Missense_Mutation_p.I342V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	373	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACATGGCTATTGGAGGTGG	0.537																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1024-1026)ATT>GTT		thrombospondin, type I, domain containing 7B							88.0	96.0	94.0					2																	137852609		1941	4148	6089	SO:0001583	missense	80731							g.chr2:137852609A>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1117A>G	2.37:g.137852609A>G	ENSP00000387145:p.Ile373Val					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.I232V	p.I342V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	3	1024	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1024A>G		.	.	.	.	.	.	.	.	.	.	A	7.363	0.625313	0.14257	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.84	-0.76	0.11041	.	0.390981	0.30584	N	0.009310	T	0.25791	0.0628	L	0.31664	0.95	0.27888	N	0.939442	B;B	0.12013	0.002;0.005	B;B	0.14023	0.01;0.004	T	0.19679	-1.0298	10	0.10902	T	0.67	.	5.7861	0.18334	0.5078:0.2365:0.2556:0.0	.	373;342	Q9C0I4;C9JKN6	THS7B_HUMAN;.	V	373;373;342;232	ENSP00000387145:I373V;ENSP00000272643:I373V;ENSP00000413841:I342V;ENSP00000443370:I232V	ENSP00000272643:I373V	I	+	1	0	THSD7B	137569079	0.006000	0.16342	0.228000	0.23943	0.855000	0.48748	0.203000	0.17315	-0.113000	0.11958	0.528000	0.53228	ATT		0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		12	41	0	0	0	0	12	41				
ERMN	57471	broad.mit.edu	37	2	158178042	158178042	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158178042T>C	ENST00000410096.1	-	3	887	c.596A>G	c.(595-597)gAt>gGt	p.D199G	ERMN_ENST00000535935.1_Missense_Mutation_p.D93G|ERMN_ENST00000397283.2_Missense_Mutation_p.D212G|ERMN_ENST00000420719.2_Missense_Mutation_p.D179G	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	199					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCGAACTtcatcttcatcatt	0.383																																						uc002tzh.2		NA																	0				ovary(1)|skin(1)	2						c.(595-597)GAT>GGT		ermin, ERM-like protein isoform b							123.0	119.0	120.0					2																	158178042		1910	4132	6042	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158178042T>C	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.596A>G	2.37:g.158178042T>C	ENSP00000387047:p.Asp199Gly					ERMN_uc010zcj.1_Missense_Mutation_p.D93G|ERMN_uc010zck.1_Missense_Mutation_p.D179G|ERMN_uc002tzi.2_Missense_Mutation_p.D212G	p.D199G	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN			3	858	-			199					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.596A>G	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365261	0.61513	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.69	5.69	0.88448	.	0.208186	0.34268	N	0.004114	T	0.66086	0.2754	L	0.34521	1.04	0.40594	D	0.981512	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.984	T	0.70219	-0.4932	9	0.72032	D	0.01	.	13.8994	0.63794	0.0:0.0:0.0:1.0	.	179;212;199	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	G	199;212;93;179	.	ENSP00000380453:D212G	D	-	2	0	ERMN	157886288	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.246000	0.65411	2.171000	0.68590	0.533000	0.62120	GAT		0.383	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		6	110	0	0	0	0	6	110				
ACVR1	90	broad.mit.edu	37	2	158594062	158594062	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:158594062T>A	ENST00000263640.3	-	11	1940	c.1511A>T	c.(1510-1512)aAa>aTa	p.K504I	ACVR1_ENST00000434821.1_Missense_Mutation_p.K504I|AC019186.1_ENST00000447019.1_lincRNA|ACVR1_ENST00000409283.2_Missense_Mutation_p.K504I|ACVR1_ENST00000410057.2_Missense_Mutation_p.K504I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	504					activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGTTTTCAATTTGTCGAGGGA	0.418																																						uc002tzm.3		NA																	0				ovary(2)|skin(1)	3						c.(1510-1512)AAA>ATA		activin A receptor, type I precursor	Adenosine triphosphate(DB00171)						115.0	102.0	106.0					2																	158594062		2203	4300	6503	SO:0001583	missense	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158594062T>A		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.1511A>T	2.37:g.158594062T>A	ENSP00000263640:p.Lys504Ile					ACVR1_uc002tzn.3_Missense_Mutation_p.K504I|ACVR1_uc010fog.2_Missense_Mutation_p.K504I	p.K504I	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	12	1850	-			504			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000263640.3	37	c.1511A>T	CCDS2206.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541734	0.85917	.	.	ENSG00000115170	ENST00000263640;ENST00000409283;ENST00000434821;ENST00000410057	D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.89382	0.6699	L	0.28192	0.835	0.80722	D	1	D	0.69078	0.997	D	0.69307	0.963	D	0.90811	0.4701	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	504	Q04771	ACVR1_HUMAN	I	504	ENSP00000263640:K504I;ENSP00000387273:K504I;ENSP00000405004:K504I;ENSP00000387127:K504I	ENSP00000263640:K504I	K	-	2	0	ACVR1	158302308	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	AAA		0.418	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105		8	46	0	0	0	0	8	46				
BAZ2B	29994	broad.mit.edu	37	2	160206241	160206241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:160206241G>A	ENST00000392783.2	-	28	5336	c.4841C>T	c.(4840-4842)cCa>cTa	p.P1614L	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1578L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1514L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1580L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1614					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TAAAGCAAATGGATTTAAGCC	0.433																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(4840-4842)CCA>CTA		bromodomain adjacent to zinc finger domain, 2B							83.0	79.0	80.0					2																	160206241		1938	4142	6080	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206241G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4841C>T	2.37:g.160206241G>A	ENSP00000376534:p.Pro1614Leu					BAZ2B_uc002uap.2_Missense_Mutation_p.P1578L	p.P1614L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			28	5193	-			1614					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4841C>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320362	0.41096	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.58210	0.41;0.4;0.41;0.35	6.06	6.06	0.98353	.	0.210998	0.23429	U	0.048268	T	0.70718	0.3256	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.998;0.965	D;P	0.66351	0.943;0.526	T	0.70022	-0.4986	10	0.72032	D	0.01	-7.4334	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1578;1614	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	L	1578;1614;1580;1514	ENSP00000376533:P1578L;ENSP00000376534:P1614L;ENSP00000348087:P1580L;ENSP00000339670:P1514L	ENSP00000339670:P1514L	P	-	2	0	BAZ2B	159914487	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.061000	0.71148	2.882000	0.98803	0.655000	0.94253	CCA		0.433	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			7	36	0	0	0	0	7	36				
TTN	7273	broad.mit.edu	37	2	179411788	179411788	+	Silent	SNP	A	A	T	rs138888307		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179411788A>T	ENST00000591111.1	-	290	89765	c.89541T>A	c.(89539-89541)gcT>gcA	p.A29847A	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342992.6_Silent_p.A28920A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A31488A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.A22548A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.A22423A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.A22615A			Q8WZ42	TITIN_HUMAN	titin	29847	Fibronectin type-III 117. {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)			TAACACCTGCAGCATTGAGTG	0.393																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86758-86760)GCT>GCA		titin isoform N2-A							235.0	227.0	229.0					2																	179411788		1916	4139	6055	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411788A>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.89541T>A	2.37:g.179411788A>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A22615A|TTN_uc010zfi.1_Silent_p.A22548A|TTN_uc010zfj.1_Silent_p.A22423A	p.A28920A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86984	-			29847					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.86760T>A																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		52	191	0	0	0	0	52	191				
TTN	7273	broad.mit.edu	37	2	179458745	179458745	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179458745C>T	ENST00000591111.1	-	247	53676	c.53452G>A	c.(53452-53454)Gtg>Atg	p.V17818M	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16891M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19459M|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10519M|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V10394M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10586M			Q8WZ42	TITIN_HUMAN	titin	17818	Ig-like 104.				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)			TCCACAACCACACAGTATTTG	0.403																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50671-50673)GTG>ATG		titin isoform N2-A							182.0	180.0	181.0					2																	179458745		2012	4182	6194	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458745C>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.53452G>A	2.37:g.179458745C>T	ENSP00000465570:p.Val17818Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10586M|TTN_uc010zfi.1_Missense_Mutation_p.V10519M|TTN_uc010zfj.1_Missense_Mutation_p.V10394M	p.V16891M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50895	-			17818					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50671G>A		.	.	.	.	.	.	.	.	.	.	C	17.37	3.372490	0.61624	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64681	0.2620	L	0.60067	1.865	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.979;0.979;0.979;0.989	T	0.62854	-0.6766	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10394;10519;10586;17818	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16891;10394;10586;10519;10392	ENSP00000343764:V16891M;ENSP00000434586:V10394M;ENSP00000340554:V10586M;ENSP00000352154:V10519M	ENSP00000340554:V10586M	V	-	1	0	TTN	179166991	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GTG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		43	147	0	0	0	0	43	147				
TTN	7273	broad.mit.edu	37	2	179571433	179571433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179571433C>A	ENST00000591111.1	-	100	28441	c.28217G>T	c.(28216-28218)gGt>gTt	p.G9406V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8479V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G9723V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13504	Ig-like 77.				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)			GATTGGGTCACCTCCAACTTT	0.368																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(25435-25437)GGT>GTT		titin isoform N2-A							117.0	111.0	113.0					2																	179571433		1851	4089	5940	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571433C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28217G>T	2.37:g.179571433C>A	ENSP00000465570:p.Gly9406Val					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5140V	p.G8479V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		99	25660	-			9406					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25436G>T		.	.	.	.	.	.	.	.	.	.	C	17.66	3.444803	0.63178	.	.	ENSG00000155657	ENST00000342992	T	0.79940	-1.32	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92825	0.7718	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93203	0.6593	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	9406	Q8WZ42	TITIN_HUMAN	V	8479	ENSP00000343764:G8479V	ENSP00000343764:G8479V	G	-	2	0	TTN	179279678	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGT		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	98	1	0	2.85e-18	6.23e-18	31	98				
TTN	7273	broad.mit.edu	37	2	179581892	179581892	+	Silent	SNP	G	G	T	rs375022009		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179581892G>T	ENST00000591111.1	-	86	24842	c.24618C>A	c.(24616-24618)gcC>gcA	p.A8206A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A7279A|TTN_ENST00000589042.1_Silent_p.A8523A|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12390	Ig-like 64.				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)			TGTACTGCCCGGCATCGCCTT	0.483																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(21835-21837)GCC>GCA		titin isoform N2-A							64.0	64.0	64.0					2																	179581892		1928	4137	6065	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179581892G>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.24618C>A	2.37:g.179581892G>T						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A3940A	p.A7279A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		85	22061	-			8206					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.21837C>A																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	41	1	0	5.35e-07	1.02e-06	19	41				
TTN	7273	broad.mit.edu	37	2	179595724	179595724	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:179595724T>A	ENST00000591111.1	-	58	16941	c.16717A>T	c.(16717-16719)Agt>Tgt	p.S5573C	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4646C|TTN_ENST00000589042.1_Missense_Mutation_p.S5890C|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12390	Ig-like 36.				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)			TATTCTCCACTATCTTTCTTT	0.378																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13936-13938)AGT>TGT		titin isoform N2-A							177.0	175.0	175.0					2																	179595724		1869	4098	5967	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595724T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16717A>T	2.37:g.179595724T>A	ENSP00000465570:p.Ser5573Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S1307C	p.S4646C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		57	14160	-			5573					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13936A>T		.	.	.	.	.	.	.	.	.	.	T	8.573	0.880475	0.17467	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81781	0.4895	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.84217	0.0459	9	0.87932	D	0	.	16.2605	0.82541	0.0:0.0:0.0:1.0	.	5573	Q8WZ42	TITIN_HUMAN	C	4646	ENSP00000343764:S4646C	ENSP00000343764:S4646C	S	-	1	0	TTN	179303969	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.779000	0.47734	2.237000	0.73441	0.460000	0.39030	AGT		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		58	168	0	0	0	0	58	168				
GTF3C3	9330	broad.mit.edu	37	2	197650199	197650199	+	Missense_Mutation	SNP	T	T	C	rs138093114		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:197650199T>C	ENST00000263956.3	-	7	1096	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	GTF3C3_ENST00000409364.3_Missense_Mutation_p.Y336C|GTF3C3_ENST00000470386.1_5'UTR	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	336					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTTAGAAATATATAGTTCAGC	0.358																																						uc002uts.2		NA																	0				ovary(3)|breast(3)|pancreas(1)	7						c.(1006-1008)TAT>TGT		general transcription factor IIIC, polypeptide		T	CYS/TYR,CYS/TYR	0,4404		0,0,2202	120.0	111.0	114.0		1007,1007	2.4	0.1	2	dbSNP_134	114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GTF3C3	NM_001206774.1,NM_012086.3	194,194	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	336/414,336/887	197650199	1,13003	2202	4300	6502	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197650199T>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1007A>G	2.37:g.197650199T>C	ENSP00000263956:p.Tyr336Cys					GTF3C3_uc010zgu.1_Missense_Mutation_p.Y336C|GTF3C3_uc002utu.2_Missense_Mutation_p.Y336C|GTF3C3_uc002utt.3_Missense_Mutation_p.Y11C	p.Y336C	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN			7	1097	-			336			TPR 6.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.1007A>G	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.596499	0.46318	0.0	1.16E-4	ENSG00000119041	ENST00000263956;ENST00000448087;ENST00000409364	T;T;T	0.54279	2.18;2.18;0.58	4.84	2.39	0.29439	Tetratricopeptide-like helical (1);	0.226358	0.37955	N	0.001879	T	0.59810	0.2221	L	0.50333	1.59	0.47819	D	0.999525	D;D	0.76494	0.999;0.999	D;P	0.68353	0.957;0.862	T	0.56220	-0.8015	10	0.56958	D	0.05	-9.1457	6.3947	0.21605	0.1473:0.0774:0.0:0.7753	.	336;336	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	C	336;21;336	ENSP00000263956:Y336C;ENSP00000398385:Y21C;ENSP00000386465:Y336C	ENSP00000263956:Y336C	Y	-	2	0	GTF3C3	197358444	1.000000	0.71417	0.092000	0.20876	0.826000	0.46750	2.927000	0.48900	0.199000	0.20427	-0.464000	0.05259	TAT		0.358	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			8	33	0	0	0	0	8	33				
WDR12	55759	broad.mit.edu	37	2	203747437	203747437	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:203747437T>C	ENST00000261015.4	-	12	1940	c.1191A>G	c.(1189-1191)acA>acG	p.T397T		NM_018256.3	NP_060726.3			WD repeat domain 12											endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TTCTTACCCCTGTGTCTGTCC	0.363																																						uc002uzl.2		NA																	0					0						c.(1189-1191)ACA>ACG		WD repeat domain 12 protein							100.0	105.0	103.0					2																	203747437		2203	4300	6503	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203747437T>C	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.1191A>G	2.37:g.203747437T>C						WDR12_uc010ftt.2_Intron	p.T397T	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			12	1941	-			397			Sufficient for nucleolar localization.|WD 7.			Silent	SNP	ENST00000261015.4	37	c.1191A>G	CCDS2356.1																																																																																				0.363	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		3	103	0	0	0	0	3	103				
INO80D	54891	broad.mit.edu	37	2	206869167	206869167	+	Silent	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:206869167A>G	ENST00000403263.1	-	11	3413	c.3009T>C	c.(3007-3009)ccT>ccC	p.P1003P		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	0					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAAGCCTGTAGGAGGGGCTA	0.547																																						uc002vaz.3		NA																	0				ovary(1)	1						c.(3007-3009)CCT>CCC		INO80 complex subunit D							44.0	46.0	45.0					2																	206869167		2016	4184	6200	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869167A>G		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.3009T>C	2.37:g.206869167A>G							p.P1003P	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	3414	-			Error:Variant_position_missing_in_Q53TQ3_after_alignment					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.3009T>C	CCDS46500.1																																																																																				0.547	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		3	11	0	0	0	0	3	11				
MDH1B	130752	broad.mit.edu	37	2	207620218	207620218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207620218G>A	ENST00000374412.3	-	5	700	c.425C>T	c.(424-426)cCt>cTt	p.P142L	MDH1B_ENST00000454776.2_Missense_Mutation_p.P142L|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.P44L	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	142					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTAGCAGGCAGGAGCAGAGGC	0.398																																					Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(424-426)CCT>CTT		malate dehydrogenase 1B, NAD (soluble)							66.0	62.0	63.0					2																	207620218		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207620218G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.425C>T	2.37:g.207620218G>A	ENSP00000363533:p.Pro142Leu					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.P142L|MDH1B_uc010fuj.2_Missense_Mutation_p.P44L|MDH1B_uc002vbt.2_Intron	p.P142L	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	480	-			142					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.425C>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315107	0.23908	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.39406	1.08;1.08;1.08	6.06	0.0574	0.14323	NAD(P)-binding domain (1);	0.402847	0.30118	N	0.010366	T	0.23846	0.0577	L	0.35414	1.06	0.09310	N	0.999994	B;B	0.11235	0.004;0.002	B;B	0.17722	0.019;0.008	T	0.09250	-1.0683	10	0.31617	T	0.26	-0.242	2.176	0.03862	0.1608:0.2032:0.4272:0.2088	.	142;142	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	L	142;44;142	ENSP00000363533:P142L;ENSP00000416577:P44L;ENSP00000389916:P142L	ENSP00000363533:P142L	P	-	2	0	MDH1B	207328463	0.003000	0.15002	0.000000	0.03702	0.059000	0.15707	0.396000	0.20867	-0.057000	0.13199	0.650000	0.86243	CCT		0.398	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		21	51	0	0	0	0	21	51				
CPO	130749	broad.mit.edu	37	2	207834010	207834010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:207834010G>T	ENST00000272852.3	+	9	1021	c.975G>T	c.(973-975)caG>caT	p.Q325H		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	325						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CAGAAGCTCAGATCCAGCCCA	0.527																																						uc002vby.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(973-975)CAG>CAT		carboxypeptidase O precursor							140.0	118.0	126.0					2																	207834010		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207834010G>T		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.975G>T	2.37:g.207834010G>T	ENSP00000272852:p.Gln325His						p.Q325H	NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	9	1021	+			325					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.975G>T	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079518	0.36662	.	.	ENSG00000144410	ENST00000272852	T	0.12672	2.66	5.13	3.28	0.37604	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	M	0.78916	2.43	0.37954	D	0.93276	D	0.89917	1.0	D	0.77004	0.989	T	0.24870	-1.0148	10	0.87932	D	0	.	9.4244	0.38570	0.0:0.1504:0.6825:0.1671	.	325	Q8IVL8	CBPO_HUMAN	H	325	ENSP00000272852:Q325H	ENSP00000272852:Q325H	Q	+	3	2	CPO	207542255	1.000000	0.71417	0.953000	0.39169	0.291000	0.27294	3.294000	0.51787	0.681000	0.31386	0.561000	0.74099	CAG		0.527	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		12	48	1	0	1.09e-07	2.09e-07	12	48				
SLC4A3	6508	broad.mit.edu	37	2	220501488	220501488	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:220501488C>T	ENST00000358055.3	+	16	2939	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	SLC4A3_ENST00000373762.3_Silent_p.A836A|SLC4A3_ENST00000373760.2_Silent_p.A809A|SLC4A3_ENST00000273063.6_Silent_p.A836A|SLC4A3_ENST00000317151.3_Silent_p.A809A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	809	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTGGTGGCCGCCGAAGGCA	0.582																																						uc002vmp.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(2425-2427)GCC>GCT		solute carrier family 4, anion exchanger, member							187.0	168.0	175.0					2																	220501488		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220501488C>T		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2427C>T	2.37:g.220501488C>T						SLC4A3_uc002vmo.3_Silent_p.A836A|SLC4A3_uc010fwm.2_Silent_p.A359A|SLC4A3_uc010fwn.1_Silent_p.A318A	p.A809A	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2696	+		Renal(207;0.0183)	809			Helical; (Potential).|Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.2427C>T	CCDS2445.1																																																																																				0.582	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		31	97	0	0	0	0	31	97				
NMUR1	10316	broad.mit.edu	37	2	232390111	232390111	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:232390111G>C	ENST00000305141.4	-	3	1057	c.924C>G	c.(922-924)atC>atG	p.I308M		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	308					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGGCCCAGCAGATGCCAAACA	0.657																																						uc002vry.3		NA																	0				lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(922-924)ATC>ATG		neuromedin U receptor 1							50.0	41.0	44.0					2																	232390111		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232390111G>C	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.924C>G	2.37:g.232390111G>C	ENSP00000305877:p.Ile308Met						p.I308M	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1034	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	308			Helical; Name=6; (Potential).		O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.924C>G	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969429	0.74246	.	.	ENSG00000171596	ENST00000305141	T	0.44482	0.92	5.22	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.386455	0.28119	N	0.016526	T	0.64983	0.2648	M	0.90198	3.095	0.39285	D	0.964636	P	0.49185	0.92	P	0.56127	0.792	T	0.77011	-0.2746	10	0.87932	D	0	-15.2126	15.3708	0.74564	0.0:0.395:0.605:0.0	.	308	Q9HB89	NMUR1_HUMAN	M	308	ENSP00000305877:I308M	ENSP00000305877:I308M	I	-	3	3	NMUR1	232098355	1.000000	0.71417	0.773000	0.31616	0.996000	0.88848	4.589000	0.61006	0.544000	0.28883	0.555000	0.69702	ATC		0.657	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		7	36	0	0	0	0	7	36				
ALPP	250	broad.mit.edu	37	2	233246046	233246046	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:233246046C>T	ENST00000392027.2	+	10	1547	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.G426G(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCAAGGACGGCGCCCGGCCGG	0.697																																						uc002vsq.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1276-1278)GGC>GGT		placental alkaline phosphatase preproprotein							55.0	65.0	62.0					2																	233246046		2203	4300	6503	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233246046C>T	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1278C>T	2.37:g.233246046C>T						ALPP_uc002vsr.2_RNA	p.G426G	NM_001632	NP_001623	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	10	1443	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	426					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.1278C>T	CCDS2490.1																																																																																				0.697	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		10	33	0	0	0	0	10	33				
C2orf54	79919	broad.mit.edu	37	2	241831032	241831032	+	Silent	SNP	G	G	T	rs373352468		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:241831032G>T	ENST00000388934.4	-	2	821	c.663C>A	c.(661-663)ccC>ccA	p.P221P	C2orf54_ENST00000402775.2_Silent_p.P53P|C2orf54_ENST00000307486.8_Silent_p.P72P	NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	221										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CAGGGAATCCGGGCATCTGCT	0.657																																						uc002wae.3		NA																	0					0						c.(661-663)CCC>CCA		hypothetical protein LOC79919 isoform 1							47.0	56.0	53.0					2																	241831032		2032	4170	6202	SO:0001819	synonymous_variant	79919							g.chr2:241831032G>T	AK026324, AK056601	CCDS42839.1, CCDS42840.1, CCDS63187.1	2q37.3	2011-02-23			ENSG00000172478	ENSG00000172478			26216	protein-coding gene	gene with protein product							Standard	NM_001282921		Approved	FLJ22671	uc002wae.4	Q08AI8	OTTHUMG00000151906	ENST00000388934.4:c.663C>A	2.37:g.241831032G>T						C2orf54_uc002wac.2_Silent_p.P53P|C2orf54_uc002wad.2_Silent_p.P72P	p.P221P	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	2	822	-		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	221					B3KPP9|H7BXM3|Q08AI9|Q53QU5|Q9H622	Silent	SNP	ENST00000388934.4	37	c.663C>A	CCDS42839.1																																																																																				0.657	C2orf54-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324353.1	NM_024861, NM_001085437		32	93	1	0	9.04e-19	1.99e-18	32	93				
SRXN1	140809	broad.mit.edu	37	20	629443	629443	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:629443C>A	ENST00000381962.3	-	2	513	c.329G>T	c.(328-330)cGa>cTa	p.R110L	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	110					response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	ATP binding (GO:0005524)|oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)|sulfiredoxin activity (GO:0032542)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GATGGTCTCTCGCTGCAGTTG	0.607																																						uc002wea.2		NA																	0				ovary(1)	1						c.(328-330)CGA>CTA		sulfiredoxin 1 homolog							108.0	105.0	106.0					20																	629443		2203	4300	6503	SO:0001583	missense	140809				response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity	g.chr20:629443C>A	AF075053	CCDS13005.1	20p13	2013-05-22	2010-06-24	2005-05-10	ENSG00000271303	ENSG00000271303			16132	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 139"", ""sulfiredoxin 1 homolog (S. cerevisiae)"""	C20orf139			Standard	NM_080725		Approved	Npn3, SRX1, YKL086W, dJ850E9.2	uc002wea.4	Q9BYN0	OTTHUMG00000031644	ENST00000381962.3:c.329G>T	20.37:g.629443C>A	ENSP00000371388:p.Arg110Leu					SRXN1_uc002web.2_RNA	p.R110L	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN			2	390	-			110					B2R543|Q8NDM3|Q96AK6	Missense_Mutation	SNP	ENST00000381962.3	37	c.329G>T	CCDS13005.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327351	0.24080	.	.	ENSG00000172070	ENST00000381962	.	.	.	5.69	2.37	0.29283	ParB-like nuclease (1);	0.288296	0.26542	U	0.023788	T	0.15782	0.0380	N	0.04063	-0.285	0.26335	N	0.977455	B	0.14805	0.011	B	0.21917	0.037	T	0.28332	-1.0047	9	0.13108	T	0.6	-4.0936	10.1517	0.42799	0.0:0.7034:0.0:0.2966	.	110	Q9BYN0	SRXN1_HUMAN	L	110	.	ENSP00000371388:R110L	R	-	2	0	SRXN1	577443	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	2.640000	0.46579	0.365000	0.24400	-0.813000	0.03139	CGA		0.607	SRXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077479.2	NM_080725		27	77	1	0	2.45e-14	5.18e-14	27	77				
SNPH	9751	broad.mit.edu	37	20	1285985	1285985	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:1285985C>A	ENST00000381873.3	+	6	1008	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	SNPH_ENST00000381867.1_Missense_Mutation_p.L302M	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	258					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACGGACGCGCTGGAAGCCAG	0.682																																						uc002wes.2		NA																	0				ovary(2)	2						c.(772-774)CTG>ATG		syntaphilin							36.0	34.0	35.0					20																	1285985		2196	4279	6475	SO:0001583	missense	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1285985C>A		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.772C>A	20.37:g.1285985C>A	ENSP00000371297:p.Leu258Met					SNPH_uc002wet.2_Missense_Mutation_p.L302M	p.L258M	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	1008	+			258					Q8IYI3	Missense_Mutation	SNP	ENST00000381873.3	37	c.772C>A	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086271	0.36855	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.75	2.67	0.31697	.	0.110691	0.37393	N	0.002112	T	0.65281	0.2676	L	0.52011	1.625	0.39066	D	0.960629	D;D	0.76494	0.999;0.999	D;D	0.76071	0.976;0.987	T	0.67432	-0.5672	9	0.72032	D	0.01	-15.8403	7.0581	0.25111	0.0:0.6538:0.0:0.3462	.	302;258	O15079-2;O15079	.;SNPH_HUMAN	M	258;302	.	ENSP00000371291:L302M	L	+	1	2	SNPH	1233985	0.831000	0.29352	0.578000	0.28575	0.559000	0.35586	1.281000	0.33214	1.236000	0.43740	0.561000	0.74099	CTG		0.682	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2	NM_014723		23	49	1	0	1.85e-09	3.71e-09	23	49				
TGM3	7053	broad.mit.edu	37	20	2312716	2312716	+	Missense_Mutation	SNP	G	G	A	rs201479752		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2312716G>A	ENST00000381458.5	+	10	1465	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	468		Cleavage; by CTSL.			cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCCATTTGCCGCGACGTCTTC	0.517																																						uc002wfx.3		NA																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1402-1404)GCG>ACG		transglutaminase 3 precursor	L-Glutamine(DB00130)						73.0	65.0	67.0					20																	2312716		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2312716G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1402G>A	20.37:g.2312716G>A	ENSP00000370867:p.Ala468Thr						p.A468T	NM_003245	NP_003236	Q08188	TGM3_HUMAN			10	1499	+			468				Cleavage; by CTSL.	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.1402G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958674	0.34565	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.79352	-1.26	5.14	-7.72	0.01250	.	1.023430	0.07766	N	0.950986	T	0.63402	0.2508	L	0.50333	1.59	0.19575	N	0.999966	P	0.48640	0.913	B	0.30251	0.113	T	0.58200	-0.7678	10	0.13853	T	0.58	-3.7498	19.997	0.97387	0.0:0.1278:0.8059:0.0663	.	468	Q08188	TGM3_HUMAN	T	468	ENSP00000370867:A468T	ENSP00000370867:A468T	A	+	1	0	TGM3	2260716	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.476000	0.02333	-0.687000	0.05162	-0.165000	0.13383	GCG		0.517	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		6	60	0	0	0	0	6	60				
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	G	C	rs140423684	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2321165G>C	ENST00000381458.5	+	13	2083	c.2020G>C	c.(2020-2022)Gac>Cac	p.D674H		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040). {ECO:0000305}.	cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602																																						uc002wfx.3		NA																	0				large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(2020-2022)GAC>CAC		transglutaminase 3 precursor	L-Glutamine(DB00130)						136.0	104.0	115.0					20																	2321165		2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2321165G>C	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.2020G>C	20.37:g.2321165G>C	ENSP00000370867:p.Asp674His						p.D674H	NM_003245	NP_003236	Q08188	TGM3_HUMAN			13	2117	+			674	D -> G (in Ref. 2; BAF84040).				A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.2020G>C	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.191533	0.58017	.	.	ENSG00000125780	ENST00000381458	T	0.70869	-0.52	4.68	3.72	0.42706	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.285984	0.40469	N	0.001100	T	0.77558	0.4148	L	0.55213	1.73	0.39147	D	0.962156	D	0.89917	1.0	D	0.85130	0.997	T	0.77872	-0.2426	10	0.52906	T	0.07	-9.9275	7.9286	0.29889	0.1159:0.0:0.8841:0.0	.	674	Q08188	TGM3_HUMAN	H	674	ENSP00000370867:D674H	ENSP00000370867:D674H	D	+	1	0	TGM3	2269165	0.922000	0.31269	0.832000	0.32986	0.989000	0.77384	1.373000	0.34272	1.152000	0.42452	0.655000	0.94253	GAC		0.602	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		29	72	0	0	0	0	29	72				
IDH3B	3420	broad.mit.edu	37	20	2640691	2640691	+	Silent	SNP	G	G	A	rs201237064		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:2640691G>A	ENST00000380843.4	-	9	930	c.900C>T	c.(898-900)taC>taT	p.Y300Y	IDH3B_ENST00000380851.5_Silent_p.Y300Y|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	300					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						CAAAGACTGCGTATTCTGCAC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20252	0.0		0.0	False		,,,				2504	0.0					uc002wgp.2		NA																	0					0						c.(898-900)TAC>TAT		isocitrate dehydrogenase 3, beta subunit isoform	NADH(DB00157)	G	,,	0,4406	2.1+/-5.4	0,0,2203	192.0	173.0	179.0		900,900,444	-4.2	0.9	20		179	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	,,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,,	300/386,300/384,148/234	2640691	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	3420				isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr20:2640691G>A		CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.900C>T	20.37:g.2640691G>A						IDH3B_uc002wgq.2_Silent_p.Y300Y|IDH3B_uc002wgr.2_Silent_p.Y148Y	p.Y300Y	NM_006899	NP_008830	O43837	IDH3B_HUMAN			9	909	-			300					B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Silent	SNP	ENST00000380843.4	37	c.900C>T	CCDS13032.1																																																																																				0.532	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			28	109	0	0	0	0	28	109				
MAVS	57506	broad.mit.edu	37	20	3841990	3841990	+	Missense_Mutation	SNP	C	C	T	rs200118692	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:3841990C>T	ENST00000428216.2	+	4	432	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MAVS_ENST00000416600.2_5'UTR|MAVS_ENST00000358134.6_Intron	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	102					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of IP-10 production (GO:0071660)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of peroxisome organization (GO:1900063)|RIG-I signaling pathway (GO:0039529)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	CARD domain binding (GO:0050700)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GACCTCGGACCGTCCCCCAGA	0.597													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16196	0.001		0.0	False		,,,				2504	0.0					uc002wjw.3		NA																	0					0						c.(304-306)CGT>TGT		virus-induced signaling adapter		C	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	73.0	75.0		,304	-0.7	0.0	20		75	0,8600		0,0,4300	no	utr-5,missense	MAVS	NM_001206491.1,NM_020746.4	,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,102/541	3841990	1,13005	2203	4300	6503	SO:0001583	missense	57506				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity	g.chr20:3841990C>T	DQ174270	CCDS33437.1, CCDS56176.1	20p13	2009-04-02			ENSG00000088888	ENSG00000088888			29233	protein-coding gene	gene with protein product	"""virus-induced signaling adaptor"", ""IFN-B promoter stimulator 1"", ""CARD adaptor inducing IFN-beta"""	609676				16125763, 16153868	Standard	NM_020746		Approved	VISA, KIAA1271, IPS-1, Cardif	uc002wjw.4	Q7Z434	OTTHUMG00000031765	ENST00000428216.2:c.304C>T	20.37:g.3841990C>T	ENSP00000401980:p.Arg102Cys					MAVS_uc010zqn.1_Intron|MAVS_uc002wjx.3_5'UTR|MAVS_uc002wjy.3_Intron	p.R102C	NM_020746	NP_065797	Q7Z434	MAVS_HUMAN			4	473	+			102			Cytoplasmic (Probable).		A8K6X0|B2BD33|B2BD34|F5H6C8|Q2HWT5|Q3I0Y2|Q5T7I6|Q86VY7|Q9H1H3|Q9H4Y1|Q9H8D3|Q9ULE9	Missense_Mutation	SNP	ENST00000428216.2	37	c.304C>T	CCDS33437.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.41	2.526844	0.44969	2.27E-4	0.0	ENSG00000088888	ENST00000428216	T	0.11930	2.73	3.55	-0.656	0.11436	.	2.197650	0.01522	N	0.018417	T	0.16514	0.0397	L	0.38175	1.15	0.09310	N	0.999998	D	0.69078	0.997	P	0.50896	0.653	T	0.11542	-1.0583	10	0.62326	D	0.03	.	2.9476	0.05850	0.1952:0.4672:0.0:0.3375	.	102	Q7Z434	MAVS_HUMAN	C	102	ENSP00000401980:R102C	ENSP00000401980:R102C	R	+	1	0	MAVS	3789990	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.546000	0.06062	-0.085000	0.12573	0.591000	0.81541	CGT		0.597	MAVS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077784.3	NM_020746		22	64	0	0	0	0	22	64				
PLCB1	23236	broad.mit.edu	37	20	8737765	8737765	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:8737765C>A	ENST00000338037.6	+	24	2623	c.2596C>A	c.(2596-2598)Cac>Aac	p.H866N	PLCB1_ENST00000378641.3_Missense_Mutation_p.H866N|PLCB1_ENST00000378637.2_Missense_Mutation_p.H866N|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	866					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGGGGTGAATCACACTACAAC	0.498																																						uc002wnb.2		NA																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(2596-2598)CAC>AAC		phosphoinositide-specific phospholipase C beta 1							78.0	79.0	79.0					20																	8737765		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8737765C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.2596C>A	20.37:g.8737765C>A	ENSP00000338185:p.His866Asn					PLCB1_uc010zrb.1_Missense_Mutation_p.H765N|PLCB1_uc002wna.2_Missense_Mutation_p.H866N|PLCB1_uc002wnc.1_Missense_Mutation_p.H765N|PLCB1_uc002wnd.1_Missense_Mutation_p.H443N	p.H866N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			24	2599	+			866					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.2596C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944805	0.34283	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.17370	2.29;2.28;2.29	5.53	5.53	0.82687	.	0.101741	0.64402	D	0.000002	T	0.18087	0.0434	L	0.51422	1.61	0.46044	D	0.998837	B;B	0.15141	0.0;0.012	B;B	0.21917	0.001;0.037	T	0.04386	-1.0955	10	0.17369	T	0.5	.	14.9866	0.71353	0.0:0.9294:0.0:0.0706	.	866;866	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	N	866;866;866;786;786	ENSP00000367908:H866N;ENSP00000338185:H866N;ENSP00000367904:H866N	ENSP00000338185:H866N	H	+	1	0	PLCB1	8685765	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.987000	0.56944	2.747000	0.94245	0.650000	0.86243	CAC		0.498	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			24	34	1	0	1.85e-09	3.71e-09	24	34				
GZF1	64412	broad.mit.edu	37	20	23345471	23345471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:23345471G>T	ENST00000338121.5	+	2	528	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.V151L			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	151					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGAGGTGGAGGTGAGCAGTGG	0.493																																						uc010gdb.2		NA																	0				kidney(1)	1						c.(451-453)GTG>TTG		GDNF-inducible zinc finger protein 1							63.0	68.0	66.0					20																	23345471		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345471G>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.451G>T	20.37:g.23345471G>T	ENSP00000338290:p.Val151Leu					GZF1_uc002wsy.2_Missense_Mutation_p.V151L|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Missense_Mutation_p.V151L	p.V151L	NM_022482	NP_071927	Q9H116	GZF1_HUMAN			3	625	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		151					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.451G>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	4.734	0.136522	0.09032	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09630	2.96;2.96	4.62	3.64	0.41730	.	0.694155	0.12587	N	0.455960	T	0.06325	0.0163	N	0.08118	0	0.09310	N	0.999999	B	0.15473	0.013	B	0.11329	0.006	T	0.28004	-1.0057	10	0.28530	T	0.3	.	12.3572	0.55182	0.0841:0.0:0.9159:0.0	.	151	Q9H116	GZF1_HUMAN	L	151	ENSP00000338290:V151L;ENSP00000366250:V151L	ENSP00000338290:V151L	V	+	1	0	GZF1	23293471	0.980000	0.34600	0.412000	0.26496	0.009000	0.06853	3.327000	0.52045	2.415000	0.81967	0.650000	0.86243	GTG		0.493	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		19	58	1	0	6.94e-10	1.4e-09	19	58				
SYNDIG1	79953	broad.mit.edu	37	20	24524045	24524045	+	Missense_Mutation	SNP	C	C	A	rs554961572	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:24524045C>A	ENST00000376862.3	+	2	945	c.312C>A	c.(310-312)gaC>gaA	p.D104E		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	104					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGGGGGGACGGTGTGGCCG	0.632																																						uc002wtw.1		NA																	0					0						c.(310-312)GAC>GAA		transmembrane protein 90B							62.0	62.0	62.0					20																	24524045		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524045C>A	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.312C>A	20.37:g.24524045C>A	ENSP00000366058:p.Asp104Glu						p.D104E	NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN			2	945	+			104			Cytoplasmic (Potential).		Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.312C>A	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.059991	0.01950	.	.	ENSG00000101463	ENST00000376862	D	0.89485	-2.52	5.85	-11.7	0.00046	.	0.339414	0.31113	N	0.008223	T	0.66781	0.2824	N	0.25144	0.715	0.19775	N	0.999957	B	0.02656	0.0	B	0.04013	0.001	T	0.62053	-0.6935	10	0.07325	T	0.83	-12.0957	3.0176	0.06065	0.1371:0.3272:0.2875:0.2482	.	104	Q9H7V2	SYNG1_HUMAN	E	104	ENSP00000366058:D104E	ENSP00000366058:D104E	D	+	3	2	SYNDIG1	24472045	0.116000	0.22171	0.000000	0.03702	0.004000	0.04260	-0.580000	0.05827	-4.680000	0.00036	-3.810000	0.00019	GAC		0.632	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		25	61	1	0	2.8e-10	5.7e-10	25	61				
CHD6	84181	broad.mit.edu	37	20	40118659	40118659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:40118659T>C	ENST00000373233.3	-	12	1616	c.1439A>G	c.(1438-1440)aAa>aGa	p.K480R	CHD6_ENST00000309279.7_Missense_Mutation_p.K480R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	480	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AATACAGTTTTTTCTGCAGAG	0.378																																						uc002xka.1		NA																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(1438-1440)AAA>AGA		chromodomain helicase DNA binding protein 6							98.0	111.0	107.0					20																	40118659		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118659T>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1439A>G	20.37:g.40118659T>C	ENSP00000362330:p.Lys480Arg					CHD6_uc002xkd.2_Missense_Mutation_p.K458R	p.K480R	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			12	1617	-		Myeloproliferative disorder(115;0.00425)	480			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.1439A>G	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.472|9.472	1.095844|1.095844	0.20552|0.20552	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000440697|ENST00000373233;ENST00000309279	D|D;D	0.92805|0.92348	-3.11|-3.02;-3.02	5.27|5.27	5.27|5.27	0.74061|0.74061	.|DEAD-like helicase (2);SNF2-related (1);	0.000000|0.000000	0.64402|0.64402	D|D	0.000012|0.000012	T|T	0.77896|0.77896	0.4199|0.4199	N|N	0.01009|0.01009	-1.055|-1.055	0.80722|0.80722	D|D	1|1	.|B	.|0.20052	.|0.041	.|B	.|0.31101	.|0.124	T|T	0.75575|0.75575	-0.3270|-0.3270	8|10	0.48119|0.02654	T|T	0.1|1	-19.8505|-19.8505	15.4838|15.4838	0.75548|0.75548	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|480	.|Q8TD26	.|CHD6_HUMAN	E|R	183|480	ENSP00000404637:K183E|ENSP00000362330:K480R;ENSP00000308684:K480R	ENSP00000404637:K183E|ENSP00000308684:K480R	K|K	-|-	1|2	0|0	CHD6|CHD6	39552073|39552073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.227000|6.227000	0.72282|0.72282	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	AAA|AAA		0.378	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			51	112	0	0	0	0	51	112				
NFATC2	4773	broad.mit.edu	37	20	50140492	50140492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:50140492C>G	ENST00000396009.3	-	2	507	c.288G>C	c.(286-288)aaG>aaC	p.K96N	NFATC2_ENST00000371564.3_Missense_Mutation_p.K96N|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.K76N|NFATC2_ENST00000609943.1_Missense_Mutation_p.K76N|NFATC2_ENST00000610033.1_Intron	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	96					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGCTCAGAAACTTCTGCGGCC	0.657																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(286-288)AAG>AAC		nuclear factor of activated T-cells,							31.0	36.0	34.0					20																	50140492		2196	4293	6489	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50140492C>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.288G>C	20.37:g.50140492C>G	ENSP00000379330:p.Lys96Asn					NFATC2_uc002xwc.2_Missense_Mutation_p.K96N|NFATC2_uc010zyv.1_Intron|NFATC2_uc010zyw.1_Intron|NFATC2_uc010zyx.1_Missense_Mutation_p.K76N|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Missense_Mutation_p.K76N	p.K96N	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			2	508	-	Hepatocellular(150;0.248)		96					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.288G>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.268529	0.01433	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.75821	-0.97;-0.97;-0.97	5.58	4.63	0.57726	.	0.527305	0.21601	N	0.071944	T	0.41328	0.1154	N	0.01352	-0.895	0.30607	N	0.759879	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37079	-0.9721	10	0.02654	T	1	-15.436	11.0051	0.47629	0.0699:0.1311:0.799:0.0	.	76;76;96;96	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	N	96;96;76	ENSP00000360619:K96N;ENSP00000379330:K96N;ENSP00000396471:K76N	ENSP00000360619:K96N	K	-	3	2	NFATC2	49573899	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	4.843000	0.62838	1.368000	0.46115	-0.689000	0.03729	AAG		0.657	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		13	57	0	0	0	0	13	57				
SPO11	23626	broad.mit.edu	37	20	55909825	55909825	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr20:55909825T>C	ENST00000371263.3	+	6	639	c.530T>C	c.(529-531)tTa>tCa	p.L177S	SPO11_ENST00000345868.4_Missense_Mutation_p.L139S|SPO11_ENST00000371260.4_Missense_Mutation_p.L139S	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	177					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			TCAAAAGGTTTAATTGCTGGC	0.363								Editing and processing nucleases																														uc002xye.2		NA																	0				breast(2)|skin(1)	3						c.(529-531)TTA>TCA	Editing_and_processing_nucleases	meiotic recombination protein SPO11 isoform a							106.0	103.0	104.0					20																	55909825		2203	4300	6503	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55909825T>C	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.530T>C	20.37:g.55909825T>C	ENSP00000360310:p.Leu177Ser					SPO11_uc002xyf.2_Missense_Mutation_p.L139S	p.L177S	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		6	623	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		177					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.530T>C	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.160689	0.38119	.	.	ENSG00000054796	ENST00000371263;ENST00000345868;ENST00000371260;ENST00000418127	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.21	5.21	0.72293	.	0.237296	0.42682	D	0.000669	T	0.63010	0.2475	M	0.66439	2.03	0.34269	D	0.680762	D;D	0.69078	0.997;0.996	D;P	0.69479	0.964;0.878	T	0.72620	-0.4238	10	0.39692	T	0.17	-15.2727	11.3805	0.49754	0.0:0.0:0.1514:0.8486	.	139;177	Q9Y5K1-2;Q9Y5K1	.;SPO11_HUMAN	S	177;139;139;155	ENSP00000360310:L177S;ENSP00000316034:L139S;ENSP00000360307:L139S;ENSP00000413185:L155S	ENSP00000316034:L139S	L	+	2	0	SPO11	55343232	0.999000	0.42202	0.981000	0.43875	0.144000	0.21451	2.721000	0.47260	2.076000	0.62316	0.460000	0.39030	TTA		0.363	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	NM_012444		8	23	0	0	0	0	8	23				
KRTAP13-1	140258	broad.mit.edu	37	21	31768471	31768471	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:31768471G>A	ENST00000355459.2	+	1	80	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	23						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCACTACCCAGCCTCCTCCTG	0.567																																						uc002yoa.2		NA																	0				ovary(1)	1						c.(67-69)GCC>ACC		keratin associated protein 13-1							156.0	143.0	148.0					21																	31768471		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768471G>A	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.67G>A	21.37:g.31768471G>A	ENSP00000347635:p.Ala23Thr						p.A23T	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			1	80	+			23					Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.67G>A	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	1.548	-0.539948	0.04053	.	.	ENSG00000198390	ENST00000355459	T	0.03242	4.0	4.45	0.199	0.15175	.	3.182920	0.01172	N	0.006890	T	0.03305	0.0096	N	0.24115	0.695	0.09310	N	1	B	0.24675	0.109	B	0.30943	0.122	T	0.42396	-0.9454	10	0.09590	T	0.72	.	4.9305	0.13914	0.3216:0.1613:0.5171:0.0	.	23	Q8IUC0	KR131_HUMAN	T	23	ENSP00000347635:A23T	ENSP00000347635:A23T	A	+	1	0	KRTAP13-1	30690342	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.073000	0.11468	0.019000	0.15079	-0.157000	0.13467	GCC		0.567	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			60	95	0	0	0	0	60	95				
SON	6651	broad.mit.edu	37	21	34927512	34927512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr21:34927512G>A	ENST00000356577.4	+	3	6450	c.5975G>A	c.(5974-5976)aGc>aAc	p.S1992N	SON_ENST00000290239.6_Missense_Mutation_p.S1992N|SON_ENST00000381679.4_Missense_Mutation_p.S1992N|SON_ENST00000300278.4_Missense_Mutation_p.S1992N|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1992	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						agccgtcggagccgcacccca	0.672																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(5974-5976)AGC>AAC		SON DNA-binding protein isoform F							43.0	45.0	44.0					21																	34927512		2201	4300	6501	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34927512G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5975G>A	21.37:g.34927512G>A	ENSP00000348984:p.Ser1992Asn					SON_uc002ysb.1_Missense_Mutation_p.S1992N|SON_uc002ysc.2_Missense_Mutation_p.S1992N|SON_uc002ysd.2_Missense_Mutation_p.S983N|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S983N	p.S1992N	NM_138927	NP_620305	P18583	SON_HUMAN			3	6024	+			1992			2-7.|2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5975G>A	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.13|11.13	1.547877|1.547877	0.27652|0.27652	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679;ENST00000421541	.|T;T;T;T	.|0.68479	.|-0.33;-0.33;-0.33;2.11	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.193515	.|0.37178	.|N	.|0.002212	T|T	0.56277|0.56277	0.1974|0.1974	N|N	0.08118|0.08118	0|0	0.33561|0.33561	D|D	0.597305|0.597305	.|P;P;P;P;P	.|0.44139	.|0.827;0.455;0.827;0.728;0.827	.|P;B;P;B;P	.|0.49192	.|0.602;0.146;0.602;0.282;0.602	T|T	0.69745|0.69745	-0.5062|-0.5062	5|10	.|0.51188	.|T	.|0.08	.|.	15.224|15.224	0.73336|0.73336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1992;1992;1673;1992;1992	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	T|N	987|1992;1992;1992;1992;53	.|ENSP00000348984:S1992N;ENSP00000290239:S1992N;ENSP00000300278:S1992N;ENSP00000371095:S1992N	.|ENSP00000290239:S1992N	A|S	+|+	1|2	0|0	SON|SON	33849382|33849382	1.000000|1.000000	0.71417|0.71417	0.321000|0.321000	0.25320|0.25320	0.788000|0.788000	0.44548|0.44548	1.845000|1.845000	0.39279|0.39279	2.551000|2.551000	0.86045|0.86045	0.650000|0.650000	0.86243|0.86243	GCC|AGC		0.672	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		16	39	0	0	0	0	16	39				
XPNPEP3	63929	broad.mit.edu	37	22	41265101	41265101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41265101C>T	ENST00000357137.4	+	2	247	c.163C>T	c.(163-165)Cca>Tca	p.P55S	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P55S|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P32S|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P55S	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	55					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTTACACACCCACACCTCCT	0.488																																					Ovarian(145;306 1841 7037 21878 30110)	uc003azh.2		NA																	0					0						c.(163-165)CCA>TCA		X-prolyl aminopeptidase (aminopeptidase P) 3,							195.0	184.0	188.0					22																	41265101		2203	4300	6503	SO:0001583	missense	63929				cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity	g.chr22:41265101C>T		CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.163C>T	22.37:g.41265101C>T	ENSP00000349658:p.Pro55Ser					XPNPEP3_uc011aox.1_Missense_Mutation_p.P55S|XPNPEP3_uc003azi.2_5'UTR|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	p.P55S	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN			2	255	+			55					B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	c.163C>T	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383932	0.82792	.	.	ENSG00000196236	ENST00000541156;ENST00000414396;ENST00000357137;ENST00000544094	D;D	0.85339	-1.97;-1.9	5.43	5.43	0.79202	.	0.096735	0.64402	D	0.000001	D	0.92708	0.7682	M	0.82193	2.58	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.985	D	0.93109	0.6515	10	0.56958	D	0.05	.	17.0145	0.86414	0.0:1.0:0.0:0.0	.	55;55	Q9NQH7-5;Q9NQH7	.;XPP3_HUMAN	S	55;55;55;32	ENSP00000349658:P55S;ENSP00000441942:P32S	ENSP00000349658:P55S	P	+	1	0	XPNPEP3	39595047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.582000	0.67477	2.545000	0.85829	0.561000	0.74099	CCA		0.488	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2	NM_022098		27	92	0	0	0	0	27	92				
RBX1	9978	broad.mit.edu	37	22	41349628	41349628	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:41349628A>G	ENST00000216225.8	+	2	188	c.148A>G	c.(148-150)Atg>Gtg	p.M50V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	50					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						GAACCACATTATGGATCTTTG	0.453																																						uc003azk.2		NA																	0				skin(1)	1						c.(148-150)ATG>GTG		ring-box 1							208.0	182.0	191.0					22																	41349628		2203	4300	6503	SO:0001583	missense	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41349628A>G	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.148A>G	22.37:g.41349628A>G	ENSP00000216225:p.Met50Val					XPNPEP3_uc011aoy.1_RNA	p.M50V	NM_014248	NP_055063	P62877	RBX1_HUMAN			2	166	+			50					B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	ENST00000216225.8	37	c.148A>G	CCDS14009.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.858372	0.91433	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, RING-H2-type (1);	0.039462	0.85682	D	0.000000	T	0.76004	0.3927	M	0.64080	1.96	0.80722	D	1	D	0.58620	0.983	D	0.67900	0.954	T	0.78277	-0.2266	9	0.72032	D	0.01	.	15.1241	0.72469	1.0:0.0:0.0:0.0	.	50	P62877	RBX1_HUMAN	V	50	.	ENSP00000216225:M50V	M	+	1	0	RBX1	39679574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.713000	0.91408	2.198000	0.70561	0.533000	0.62120	ATG		0.453	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		22	86	0	0	0	0	22	86				
UPK3A	7380	broad.mit.edu	37	22	45689060	45689060	+	Splice_Site	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr22:45689060A>T	ENST00000216211.4	+	5	603		c.e5-1		UPK3A_ENST00000396082.2_Splice_Site	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A						cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATCCCACCACAGTCACCCCAT	0.657																																						uc003bfy.2		NA																	0					0						c.e5-2		uroplakin 3A precursor							119.0	83.0	95.0					22																	45689060		2203	4300	6503	SO:0001630	splice_region_variant	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45689060A>T	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.572-1A>T	22.37:g.45689060A>T						UPK3A_uc010gzy.2_Splice_Site_p.V70_splice	p.L191_splice	NM_006953	NP_008884	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	578	+		Ovarian(80;0.00965)|all_neural(38;0.0416)						B0QY25|O60261|Q32N05|Q5TII6	Splice_Site	SNP	ENST00000216211.4	37	c.572_splice	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.384044	0.42308	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5255	0.50578	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UPK3A	44067724	1.000000	0.71417	0.292000	0.24919	0.008000	0.06430	4.258000	0.58822	1.979000	0.57680	0.529000	0.55759	.		0.657	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953	Intron	11	34	0	0	0	0	11	34				
C3orf20	84077	broad.mit.edu	37	3	14769945	14769945	+	Splice_Site	SNP	G	G	T	rs528772163		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:14769945G>T	ENST00000253697.3	+	12	2142		c.e12-1		C3orf20_ENST00000435614.1_Splice_Site|C3orf20_ENST00000412910.1_Splice_Site	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTGTTAACAGGTCTGTTTAC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19097	0.0		0.0	False		,,,				2504	0.0					uc003byy.2		NA																	0				ovary(3)|skin(1)	4						c.e12-1		hypothetical protein LOC84077							69.0	71.0	71.0					3																	14769945		2203	4300	6503	SO:0001630	splice_region_variant	84077					cytoplasm|integral to membrane		g.chr3:14769945G>T	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1691-1G>T	3.37:g.14769945G>T						C3orf20_uc003byz.2_Splice_Site_p.G442_splice|C3orf20_uc003bza.2_Splice_Site_p.G442_splice|C3orf20_uc003bzb.1_Splice_Site_p.G65_splice	p.G564_splice	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			12	2095	+								Q7L0U6|Q8NCP2|Q9H0I7	Splice_Site	SNP	ENST00000253697.3	37	c.1691_splice	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861840	0.32884	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7474	0.46189	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C3orf20	14744949	1.000000	0.71417	0.933000	0.37362	0.072000	0.16883	2.099000	0.41767	2.245000	0.73994	0.585000	0.79938	.		0.507	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	Intron	19	35	1	0	1.34e-09	2.69e-09	19	35				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					uc011axg.1		NA																	0				ovary(1)	1						c.(1390-1392)CAT>CGT		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1940	+			464			C2H2-type 9.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			3	59	0	0	0	0	3	59				
EPHA6	285220	broad.mit.edu	37	3	96533514	96533514	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:96533514A>T	ENST00000389672.5	+	1	85	c.47A>T	c.(46-48)cAg>cTg	p.Q16L	EPHA6_ENST00000542517.1_5'Flank|EPHA6_ENST00000470610.2_Missense_Mutation_p.Q16L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCGGCGCCGCAGGCAGCGTCC	0.711																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(46-48)CAG>CTG		EPH receptor A6 isoform a							17.0	21.0	20.0					3																	96533514		2057	4183	6240	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96533514A>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.47A>T	3.37:g.96533514A>T	ENSP00000374323:p.Gln16Leu					EPHA6_uc003drp.1_Missense_Mutation_p.Q16L	p.Q16L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			1	90	+			Error:Variant_position_missing_in_Q9UF33_after_alignment					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.47A>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.297360	0.23650	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	T;T	0.74947	5.01;-0.89	4.54	0.235	0.15431	.	.	.	.	.	T	0.49457	0.1558	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32214	-0.9915	9	0.72032	D	0.01	.	5.0216	0.14363	0.4451:0.3738:0.0:0.181	.	16;16	B3KS12;E7EU71	.;.	L	16	ENSP00000420598:Q16L;ENSP00000374323:Q16L	ENSP00000374323:Q16L	Q	+	2	0	EPHA6	98016204	0.977000	0.34250	0.996000	0.52242	0.051000	0.14879	0.157000	0.16402	0.102000	0.17638	-0.636000	0.03981	CAG		0.711	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		14	24	0	0	0	0	14	24				
EPHA6	285220	broad.mit.edu	37	3	97439201	97439201	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:97439201T>A	ENST00000389672.5	+	15	2919	c.2881T>A	c.(2881-2883)Tgg>Agg	p.W961R		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	867	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CATTGTCATGTGGGAGGTCAT	0.463																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2881-2883)TGG>AGG		EPH receptor A6 isoform a							99.0	105.0	103.0					3																	97439201		2117	4260	6377	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97439201T>A	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2881T>A	3.37:g.97439201T>A	ENSP00000374323:p.Trp961Arg					EPHA6_uc003drt.2_Missense_Mutation_p.W353R|EPHA6_uc010hox.1_RNA	p.W961R	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			15	2924	+			866			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.2881T>A	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395679	0.83011	.	.	ENSG00000080224	ENST00000389672	D	0.85861	-2.04	5.41	5.41	0.78517	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.95414	0.8511	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97196	0.9861	9	0.87932	D	0	.	15.7332	0.77822	0.0:0.0:0.0:1.0	.	866	Q9UF33	EPHA6_HUMAN	R	961	ENSP00000374323:W961R	ENSP00000374323:W961R	W	+	1	0	EPHA6	98921891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.182000	0.69389	0.460000	0.39030	TGG		0.463	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		16	60	0	0	0	0	16	60				
DPPA4	55211	broad.mit.edu	37	3	109049491	109049491	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:109049491C>A	ENST00000335658.6	-	5	613	c.559G>T	c.(559-561)Gag>Tag	p.E187*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	187					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAACTCCCTCAAGGAGAGCA	0.577																																						uc003dxq.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(559-561)GAG>TAG		developmental pluripotency associated 4							70.0	75.0	73.0					3																	109049491		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109049491C>A	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.559G>T	3.37:g.109049491C>A	ENSP00000335306:p.Glu187*					DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Nonsense_Mutation_p.E187*	p.E187*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			5	614	-			187					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.559G>T	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	C	36	5.827737	0.96996	.	.	ENSG00000121570	ENST00000335658	.	.	.	3.99	3.08	0.35506	.	0.445878	0.20230	N	0.096520	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.9201	9.5555	0.39337	0.0:0.7857:0.2143:0.0	.	.	.	.	X	187	.	.	E	-	1	0	DPPA4	110532181	0.031000	0.19500	0.005000	0.12908	0.844000	0.47949	0.880000	0.28159	1.214000	0.43395	0.563000	0.77884	GAG		0.577	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		20	75	1	0	8.01e-06	1.45e-05	20	75				
POLQ	10721	broad.mit.edu	37	3	121208845	121208845	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:121208845T>C	ENST00000264233.5	-	16	3061	c.2933A>G	c.(2932-2934)cAa>cGa	p.Q978R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	978					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGATGTTCTTGATTCCCATT	0.353								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2932-2934)CAA>CGA	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							52.0	53.0	53.0					3																	121208845		2202	4300	6502	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208845T>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2933A>G	3.37:g.121208845T>C	ENSP00000264233:p.Gln978Arg					POLQ_uc003eed.2_Missense_Mutation_p.Q150R	p.Q978R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3062	-			978					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2933A>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	4.524	0.097337	0.08681	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48522	0.81	5.11	1.25	0.21368	.	0.898612	0.09672	N	0.771026	T	0.29423	0.0733	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.11235	0.003;0.004	B;B	0.11329	0.002;0.006	T	0.26883	-1.0090	10	0.15952	T	0.53	.	3.3269	0.07070	0.1361:0.0741:0.1424:0.6474	.	978;150	O75417;O75417-2	DPOLQ_HUMAN;.	R	601;978;1114	ENSP00000264233:Q978R	ENSP00000264233:Q978R	Q	-	2	0	POLQ	122691535	0.315000	0.24571	0.035000	0.18076	0.746000	0.42486	1.139000	0.31504	0.060000	0.16281	0.460000	0.39030	CAA		0.353	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		16	44	0	0	0	0	16	44				
COL6A6	131873	broad.mit.edu	37	3	130287207	130287207	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:130287207C>A	ENST00000358511.6	+	5	2191	c.2160C>A	c.(2158-2160)ccC>ccA	p.P720P	COL6A6_ENST00000453409.2_Silent_p.P720P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	720	Nonhelical region.|VWFA 4. {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						GCGCCCGGCCCAACATCAGAA	0.498																																						uc010htl.2		NA																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2158-2160)CCC>CCA		collagen type VI alpha 6 precursor							85.0	88.0	87.0					3																	130287207		1936	4127	6063	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130287207C>A	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.2160C>A	3.37:g.130287207C>A							p.P720P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			5	2191	+			720			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.2160C>A	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		32	95	1	0	1.62e-16	3.51e-16	32	95				
ATR	545	broad.mit.edu	37	3	142184024	142184024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:142184024C>T	ENST00000350721.4	-	41	7077	c.6956G>A	c.(6955-6957)gGa>gAa	p.G2319E	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.G2255E	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2319					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGAACTTTCCATCTGAGCC	0.333								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6955-6957)GGA>GAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							82.0	76.0	78.0					3																	142184024		2202	4296	6498	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142184024C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6956G>A	3.37:g.142184024C>T	ENSP00000343741:p.Gly2319Glu					ATR_uc003euy.1_Missense_Mutation_p.G205E	p.G2319E	NM_001184	NP_001175	Q13535	ATR_HUMAN			41	7078	-			2319					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6956G>A	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.991818|4.991818	0.93106|0.93106	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.94280|.	-3.39;-3.39|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77731|.	0.4174|.	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.68943|.	0.961|.	T|.	0.78342|.	-0.2241|.	10|.	0.87932|.	D|.	0|.	-9.8988|-9.8988	18.7468|18.7468	0.91795|0.91795	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2319|.	Q13535|.	ATR_HUMAN|.	E|X	2319;2255|165	ENSP00000343741:G2319E;ENSP00000372581:G2255E|.	ENSP00000343741:G2319E|.	G|W	-|-	2|3	0|0	ATR|ATR	143666714|143666714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.804000|7.804000	0.85993|0.85993	2.418000|2.418000	0.82041|0.82041	0.585000|0.585000	0.79938|0.79938	GGA|TGG		0.333	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		8	24	0	0	0	0	8	24				
NLGN1	22871	broad.mit.edu	37	3	173997383	173997383	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:173997383A>G	ENST00000457714.1	+	6	2021	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	NLGN1_ENST00000401917.3_Missense_Mutation_p.N571S|NLGN1_ENST00000545397.1_Missense_Mutation_p.N531S|NLGN1_ENST00000361589.4_Missense_Mutation_p.N531S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	548					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTCTCCAAAAATGATGTGATG	0.408																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1591-1593)AAT>AGT		neuroligin 1							56.0	55.0	55.0					3																	173997383		2203	4298	6501	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997383A>G	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1592A>G	3.37:g.173997383A>G	ENSP00000392500:p.Asn531Ser					NLGN1_uc010hww.1_Missense_Mutation_p.N571S|NLGN1_uc003fip.1_Missense_Mutation_p.N531S	p.N531S	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	2015	+	Ovarian(172;0.0025)		548			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1592A>G	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477326	0.44044	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67730	0.2924	N	0.22421	0.69	0.80722	D	1	P;B	0.37207	0.587;0.395	P;B	0.51516	0.672;0.06	T	0.65747	-0.6093	10	0.33141	T	0.24	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	571;531	D2X2H5;Q8N2Q7-2	.;.	S	531;531;531;571	ENSP00000392500:N531S;ENSP00000354541:N531S;ENSP00000441108:N531S;ENSP00000385750:N571S	ENSP00000354541:N531S	N	+	2	0	NLGN1	175480077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAT		0.408	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		11	62	0	0	0	0	11	62				
LSG1	55341	broad.mit.edu	37	3	194365325	194365325	+	Missense_Mutation	SNP	C	C	T	rs370609808		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr3:194365325C>T	ENST00000265245.5	-	13	2088	c.1774G>A	c.(1774-1776)Gtt>Att	p.V592I	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	592					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		GTTTTGTCAACGATATTTTCA	0.328																																						uc003fui.2		NA																	0					0						c.(1774-1776)GTT>ATT		large subunit GTPase 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	115.0	111.0	113.0		1774	5.9	0.9	3		113	0,8600		0,0,4300	no	missense	LSG1	NM_018385.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	592/659	194365325	1,13005	2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194365325C>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1774G>A	3.37:g.194365325C>T	ENSP00000265245:p.Val592Ile						p.V592I	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	13	2089	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		592					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.1774G>A	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039113	0.75617	2.27E-4	0.0	ENSG00000041802	ENST00000265245	T	0.15718	2.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	L	0.39898	1.24	0.80722	D	1	P	0.51653	0.947	P	0.44732	0.459	T	0.00728	-1.1591	10	0.25106	T	0.35	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	592	Q9H089	LSG1_HUMAN	I	592	ENSP00000265245:V592I	ENSP00000265245:V592I	V	-	1	0	LSG1	195846614	1.000000	0.71417	0.896000	0.35187	0.906000	0.53458	7.625000	0.83145	2.797000	0.96272	0.655000	0.94253	GTT		0.328	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		9	42	0	0	0	0	9	42				
WHSC1	7468	broad.mit.edu	37	4	1936943	1936943	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:1936943A>T	ENST00000382895.3	+	9	2059	c.1628A>T	c.(1627-1629)gAc>gTc	p.D543V	WHSC1_ENST00000514045.1_Missense_Mutation_p.D543V|WHSC1_ENST00000398261.1_Missense_Mutation_p.D543V|WHSC1_ENST00000503128.1_Missense_Mutation_p.D543V|WHSC1_ENST00000508803.1_Missense_Mutation_p.D543V|WHSC1_ENST00000382891.5_Missense_Mutation_p.D543V|WHSC1_ENST00000382892.2_Missense_Mutation_p.D543V|WHSC1_ENST00000420906.2_Missense_Mutation_p.D543V	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	543					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAAGCTGAGGACACACCCAGG	0.458			T	IGH@	MM																																	uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1627-1629)GAC>GTC		Wolf-Hirschhorn syndrome candidate 1 protein							184.0	175.0	178.0					4																	1936943		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1936943A>T	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1628A>T	4.37:g.1936943A>T	ENSP00000372351:p.Asp543Val					WHSC1_uc003geb.3_Missense_Mutation_p.D543V|WHSC1_uc003gec.3_Missense_Mutation_p.D543V|WHSC1_uc003ged.3_Missense_Mutation_p.D543V|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdy.1_Missense_Mutation_p.D543V|WHSC1_uc010icd.1_Missense_Mutation_p.D543V|WHSC1_uc003gea.1_Missense_Mutation_p.D543V|WHSC1_uc010ice.1_Missense_Mutation_p.D543V|WHSC1_uc003geh.1_Missense_Mutation_p.D543V	p.D543V	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	7	1804	+		all_epithelial(65;1.34e-05)	543					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.1628A>T	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	8.313	0.822609	0.16678	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261	D;T;D;D;T;D;T;T	0.95307	-3.67;1.15;-3.67;-3.67;1.15;-3.67;1.14;1.14	5.7	4.5	0.54988	.	0.347801	0.24357	N	0.039227	D	0.88347	0.6412	N	0.14661	0.345	0.80722	D	1	P;B;B	0.35923	0.528;0.242;0.355	B;B;B	0.37239	0.244;0.1;0.244	D	0.84998	0.0898	10	0.26408	T	0.33	.	13.046	0.58925	0.8655:0.1344:0.0:0.0	.	543;543;543	O96028-3;O96028;O96028-5	.;NSD2_HUMAN;.	V	543	ENSP00000423972:D543V;ENSP00000421681:D543V;ENSP00000372347:D543V;ENSP00000372348:D543V;ENSP00000399251:D543V;ENSP00000372351:D543V;ENSP00000425761:D543V;ENSP00000381311:D543V	ENSP00000308780:D543V	D	+	2	0	WHSC1	1906741	0.996000	0.38824	0.243000	0.24186	0.408000	0.30992	3.636000	0.54317	0.973000	0.38340	0.524000	0.50904	GAC		0.458	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		15	39	0	0	0	0	15	39				
ABLIM2	84448	broad.mit.edu	37	4	8037890	8037890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:8037890G>A	ENST00000341937.5	-	10	1097	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	ABLIM2_ENST00000296372.8_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000407564.3_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000546334.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000505872.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000361581.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000514025.1_Nonsense_Mutation_p.Q102*|ABLIM2_ENST00000361737.5_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000428004.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000318888.4_Nonsense_Mutation_p.Q102*|ABLIM2_ENST00000447017.2_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000545242.1_Nonsense_Mutation_p.Q345*|ABLIM2_ENST00000515079.1_5'UTR	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	345					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCGTAGCTCTGCCTGTCCCCT	0.592																																						uc003gko.2		NA																	0				pancreas(3)	3						c.(1033-1035)CAG>TAG		actin binding LIM protein family, member 2							77.0	93.0	87.0					4																	8037890		2056	4195	6251	SO:0001587	stop_gained	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8037890G>A	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1033C>T	4.37:g.8037890G>A	ENSP00000342813:p.Gln345*					ABLIM2_uc003gkl.2_Nonsense_Mutation_p.Q95*|ABLIM2_uc003gkj.3_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkm.3_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkp.2_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkq.2_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gkr.2_Nonsense_Mutation_p.Q345*|ABLIM2_uc003gks.3_Nonsense_Mutation_p.Q345*|ABLIM2_uc011bwl.1_Nonsense_Mutation_p.Q350*	p.Q345*	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			10	1176	-			345					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Nonsense_Mutation	SNP	ENST00000341937.5	37	c.1033C>T	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	G	37	6.063776	0.97251	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004;ENST00000510277	.	.	.	4.93	4.93	0.64822	.	0.398152	0.26891	N	0.021969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	18.1489	0.89668	0.0:0.0:1.0:0.0	.	.	.	.	X	345;345;345;345;345;102;102;345;345;345;345;345;345;102	.	ENSP00000296372:Q345X	Q	-	1	0	ABLIM2	8088790	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.921000	0.56454	2.274000	0.75844	0.561000	0.74099	CAG		0.592	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		4	13	0	0	0	0	4	13				
DCAF16	54876	broad.mit.edu	37	4	17805350	17805350	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:17805350C>A	ENST00000382247.1	-	3	1475	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S	DCAF16_ENST00000536863.1_Missense_Mutation_p.A139S|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	139					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTTAGAGTGGCATGATCTCTA	0.488																																						uc003gpn.2		NA																	0				ovary(1)	1						c.(415-417)GCC>TCC		DDB1 and CUL4 associated factor 16							205.0	205.0	205.0					4																	17805350		2203	4300	6503	SO:0001583	missense	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805350C>A	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.415G>T	4.37:g.17805350C>A	ENSP00000371682:p.Ala139Ser					DCAF16_uc003gpo.2_RNA	p.A139S	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN			3	1476	-			139					B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	c.415G>T	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.576325	0.45902	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.38077	1.16;1.16	4.05	3.21	0.36854	.	.	.	.	.	T	0.35128	0.0921	N	0.08118	0	0.24018	N	0.996153	D	0.71674	0.998	D	0.68621	0.959	T	0.11084	-1.0602	9	0.87932	D	0	-5.7973	7.8246	0.29307	0.0:0.8882:0.0:0.1118	.	139	Q9NXF7	DCA16_HUMAN	S	139	ENSP00000371682:A139S;ENSP00000445736:A139S	ENSP00000371682:A139S	A	-	1	0	DCAF16	17414448	0.803000	0.28956	0.974000	0.42286	0.980000	0.70556	0.602000	0.24134	1.297000	0.44761	0.561000	0.74099	GCC		0.488	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		38	105	1	0	1.47e-15	3.16e-15	38	105				
SGCB	6443	broad.mit.edu	37	4	52895030	52895030	+	Missense_Mutation	SNP	T	T	C	rs116157710		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:52895030T>C	ENST00000381431.5	-	4	709	c.487A>G	c.(487-489)Aca>Gca	p.T163A	SGCB_ENST00000535450.1_Missense_Mutation_p.T93A	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	163	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ATGTCACTTGTAATAGAAGTT	0.343													T|||	1	0.000199681	0.0	0.0	5008	,	,		15489	0.0		0.001	False		,,,				2504	0.0					uc003gzj.2		NA																	0					0						c.(487-489)ACA>GCA		sarcoglycan, beta							71.0	70.0	70.0					4																	52895030		2203	4300	6503	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52895030T>C	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.487A>G	4.37:g.52895030T>C	ENSP00000370839:p.Thr163Ala					SGCB_uc011bzp.1_Missense_Mutation_p.T93A	p.T163A	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		4	547	-			163			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.487A>G	CCDS3488.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	11.93	1.786850	0.31593	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94184	-3.37;-3.37	5.36	5.36	0.76844	.	0.097978	0.64402	D	0.000001	D	0.87834	0.6277	N	0.24115	0.695	0.44515	D	0.997464	B;B	0.29481	0.245;0.245	B;B	0.35182	0.197;0.197	D	0.83822	0.0247	10	0.07175	T	0.84	-17.053	14.5364	0.67963	0.0:0.0:0.0:1.0	.	93;163	B7Z635;Q16585	.;SGCB_HUMAN	A	163;93	ENSP00000370839:T163A;ENSP00000441199:T93A	ENSP00000370839:T163A	T	-	1	0	SGCB	52589787	1.000000	0.71417	0.994000	0.49952	0.217000	0.24651	4.130000	0.57964	2.045000	0.60652	0.533000	0.62120	ACA		0.343	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			3	49	0	0	0	0	3	49				
KIAA1211	57482	broad.mit.edu	37	4	57190366	57190366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:57190366G>A	ENST00000504228.1	+	8	3580	c.3475G>A	c.(3475-3477)Gca>Aca	p.A1159T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1152T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1159T			Q6ZU35	K1211_HUMAN	KIAA1211	1159										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCCGAGACTGCAGTGTCCAG	0.547																																						uc003hbk.2		NA																	0				ovary(1)|skin(1)	2						c.(3475-3477)GCA>ACA		hypothetical protein LOC57482							61.0	68.0	65.0					4																	57190366		2091	4225	6316	SO:0001583	missense	57482							g.chr4:57190366G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3475G>A	4.37:g.57190366G>A	ENSP00000423366:p.Ala1159Thr					KIAA1211_uc010iha.2_Missense_Mutation_p.A1152T	p.A1159T	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			10	3866	+	Glioma(25;0.08)|all_neural(26;0.101)		1159					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3475G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633687	0.67130	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.78707	-1.2;-1.2;-1.2	5.33	4.48	0.54585	.	.	.	.	.	T	0.72811	0.3507	L	0.56769	1.78	0.22531	N	0.999011	P;P	0.40431	0.717;0.717	B;B	0.37198	0.243;0.243	T	0.64567	-0.6377	9	0.44086	T	0.13	-8.6038	11.3249	0.49442	0.0697:0.1277:0.8026:0.0	.	1152;1159	F5H1N7;Q6ZU35	.;K1211_HUMAN	T	1159;1159;1152	ENSP00000264229:A1159T;ENSP00000423366:A1159T;ENSP00000444006:A1152T	ENSP00000264229:A1159T	A	+	1	0	KIAA1211	56885123	0.992000	0.36948	0.045000	0.18777	0.759000	0.43091	2.568000	0.45965	1.467000	0.48044	0.561000	0.74099	GCA		0.547	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		19	60	0	0	0	0	19	60				
CCDC158	339965	broad.mit.edu	37	4	77303790	77303790	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:77303790C>A	ENST00000388914.3	-	7	1039	c.887G>T	c.(886-888)aGt>aTt	p.S296I	CCDC158_ENST00000434846.2_Missense_Mutation_p.S296I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	296										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTCTGGATACTATTGGCTTG	0.333																																						uc003hkb.3		NA																	0				skin(3)|ovary(2)|pancreas(1)	6						c.(886-888)AGT>ATT		coiled-coil domain containing 158							123.0	121.0	122.0					4																	77303790		1869	4102	5971	SO:0001583	missense	339965							g.chr4:77303790C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.887G>T	4.37:g.77303790C>A	ENSP00000373566:p.Ser296Ile					CCDC158_uc003hkd.2_Missense_Mutation_p.S296I	p.S296I	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			7	1040	-			296			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.887G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504467	0.64410	.	.	ENSG00000163749	ENST00000388914;ENST00000318586;ENST00000434846	T;T	0.37584	1.24;1.19	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000003	T	0.40791	0.1131	N	0.19112	0.55	0.32394	N	0.552888	D;D	0.76494	0.997;0.999	D;D	0.68943	0.944;0.961	T	0.49872	-0.8893	10	0.48119	T	0.1	.	10.0317	0.42105	0.0:0.9081:0.0:0.0919	.	296;296	Q5M9N0-3;Q5M9N0	.;CD158_HUMAN	I	296	ENSP00000373566:S296I;ENSP00000401742:S296I	ENSP00000316815:S296I	S	-	2	0	CCDC158	77522814	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	2.579000	0.46059	2.490000	0.84030	0.591000	0.81541	AGT		0.333	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		12	38	1	0	0.00010058	0.000174776	12	38				
HERC5	51191	broad.mit.edu	37	4	89414186	89414186	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:89414186G>A	ENST00000264350.3	+	17	2310	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	AC083829.1_ENST00000408152.2_RNA|HERC5_ENST00000508159.1_Silent_p.G357G	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	719	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAGAAATTGGGTATGACCTCG	0.403																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NA																	0				ovary(4)|lung(3)|skin(2)	9						c.(2155-2157)GGG>GGA		hect domain and RLD 5							170.0	160.0	164.0					4																	89414186		2203	4300	6503	SO:0001819	synonymous_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89414186G>A	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2157G>A	4.37:g.89414186G>A						HERC5_uc011cdm.1_Silent_p.G357G	p.G719G	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	17	2310	+		Hepatocellular(203;0.114)	719			HECT.		B2RTQ1|Q69G20	Silent	SNP	ENST00000264350.3	37	c.2157G>A	CCDS3630.1																																																																																				0.403	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		12	50	0	0	0	0	12	50				
MMRN1	22915	broad.mit.edu	37	4	90856410	90856410	+	Missense_Mutation	SNP	T	T	A	rs531141286		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:90856410T>A	ENST00000394980.1	+	7	1898	c.1579T>A	c.(1579-1581)Tca>Aca	p.S527T	MMRN1_ENST00000264790.2_Missense_Mutation_p.S527T|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.S269T			Q13201	MMRN1_HUMAN	multimerin 1	527					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGAACAGGTATCAGACCAGAA	0.363																																						uc003hst.2		NA																	0				ovary(4)	4						c.(1579-1581)TCA>ACA		multimerin 1							90.0	90.0	90.0					4																	90856410		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90856410T>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1579T>A	4.37:g.90856410T>A	ENSP00000378431:p.Ser527Thr					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.S269T	p.S527T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	1650	+		Hepatocellular(203;0.114)	527					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.1579T>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	T	7.387	0.630022	0.14257	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.69685	-0.1;-0.1;-0.42	4.7	-1.08	0.09936	.	0.680058	0.13456	N	0.386498	T	0.54581	0.1867	M	0.66939	2.045	0.21147	N	0.999779	B	0.24721	0.11	B	0.18263	0.021	T	0.49103	-0.8974	10	0.49607	T	0.09	.	1.6938	0.02857	0.1257:0.1433:0.2607:0.4703	.	527	Q13201	MMRN1_HUMAN	T	527;527;269	ENSP00000378431:S527T;ENSP00000264790:S527T;ENSP00000426461:S269T	ENSP00000264790:S527T	S	+	1	0	MMRN1	91075433	0.100000	0.21855	0.002000	0.10522	0.009000	0.06853	0.593000	0.23999	-0.223000	0.09943	-0.468000	0.05107	TCA		0.363	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		18	62	0	0	0	0	18	62				
UNC5C	8633	broad.mit.edu	37	4	96140416	96140416	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:96140416C>G	ENST00000453304.1	-	9	1697	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	UNC5C_ENST00000506749.1_Missense_Mutation_p.R469T	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	450					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GACAGGTCCTCTGTACATGGC	0.493																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1348-1350)AGA>ACA		unc5C precursor							257.0	252.0	254.0					4																	96140416		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140416C>G	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1349G>C	4.37:g.96140416C>G	ENSP00000406022:p.Arg450Thr					UNC5C_uc010ilc.1_Missense_Mutation_p.R469T|UNC5C_uc003htq.2_Missense_Mutation_p.R469T	p.R450T	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1503	-		Hepatocellular(203;0.114)	450			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1349G>C	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460150	0.63401	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.57752	0.72;0.38;0.41	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.67534	0.2903	M	0.69185	2.1	0.80722	D	1	D;P;P	0.56287	0.975;0.919;0.651	P;B;B	0.57468	0.821;0.343;0.212	T	0.67284	-0.5709	10	0.41790	T	0.15	.	18.7712	0.91893	0.0:1.0:0.0:0.0	.	450;469;450	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	T	450;409;469;469	ENSP00000406022:R450T;ENSP00000426924:R469T;ENSP00000426153:R469T	ENSP00000328673:R409T	R	-	2	0	UNC5C	96359439	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	6.089000	0.71384	2.438000	0.82558	0.655000	0.94253	AGA		0.493	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		84	224	0	0	0	0	84	224				
ADH7	131	broad.mit.edu	37	4	100349102	100349102	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:100349102G>T	ENST00000209665.4	-	5	668	c.428C>A	c.(427-429)aCa>aAa	p.T143K	ADH7_ENST00000482593.1_Missense_Mutation_p.T74K|ADH7_ENST00000476959.1_Missense_Mutation_p.T151K|ADH7_ENST00000437033.2_Missense_Mutation_p.T131K	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	143					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GCCCTTGCATGTAAATCTGGT	0.403																																						uc003huv.1		NA																	0				lung(2)|skin(1)	3						c.(427-429)ACA>AAA		class IV alcohol dehydrogenase, mu or sigma	NADH(DB00157)						272.0	208.0	230.0					4																	100349102		2203	4300	6503	SO:0001583	missense	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100349102G>T	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.428C>A	4.37:g.100349102G>T	ENSP00000209665:p.Thr143Lys						p.T143K	NM_000673	NP_000664	P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	5	527	-			143					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	ENST00000209665.4	37	c.428C>A	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734540	0.69189	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92	4.81	2.06	0.26882	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.373927	0.30028	N	0.010599	T	0.07052	0.0179	L	0.49126	1.545	0.58432	D	0.999994	P	0.50443	0.935	P	0.51324	0.666	T	0.22521	-1.0214	10	0.56958	D	0.05	-10.8584	8.3179	0.32111	0.1449:0.1275:0.7275:0.0	.	143	P40394	ADH7_HUMAN	K	131;143;74;151;74	ENSP00000414254:T131K;ENSP00000209665:T143K;ENSP00000420613:T74K;ENSP00000420269:T151K;ENSP00000420300:T74K	ENSP00000209665:T143K	T	-	2	0	ADH7	100568125	1.000000	0.71417	0.002000	0.10522	0.114000	0.19823	3.372000	0.52387	0.629000	0.30376	-0.176000	0.13171	ACA		0.403	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		26	90	1	0	7.26e-15	1.54e-14	26	90				
NDNF	79625	broad.mit.edu	37	4	121957963	121957963	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:121957963T>A	ENST00000379692.4	-	4	1689	c.1163A>T	c.(1162-1164)cAa>cTa	p.Q388L	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	388					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCTTCTCACTTGGATTTGGAC	0.428																																						uc003idq.1		NA																	0					0						c.(1162-1164)CAA>CTA		hypothetical protein LOC79625 precursor							104.0	100.0	102.0					4																	121957963		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957963T>A	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1163A>T	4.37:g.121957963T>A	ENSP00000369014:p.Gln388Leu						p.Q388L	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1690	-			388					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1163A>T	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	T	18.74	3.687731	0.68157	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.73969	0.3655	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	P	0.57620	0.824	T	0.77081	-0.2720	9	0.66056	D	0.02	-24.6765	15.8688	0.79091	0.0:0.0:0.0:1.0	.	388	Q8TB73	NDNF_HUMAN	L	388	.	ENSP00000369014:Q388L	Q	-	2	0	NDNF	122177413	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.289000	0.72696	2.145000	0.66743	0.533000	0.62120	CAA		0.428	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		29	71	0	0	0	0	29	71				
GRIA2	2891	broad.mit.edu	37	4	158281238	158281238	+	Missense_Mutation	SNP	G	G	T	rs267600060		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:158281238G>T	ENST00000264426.9	+	13	2513	c.2234G>T	c.(2233-2235)gGt>gTt	p.G745V	GRIA2_ENST00000393815.2_Missense_Mutation_p.G698V|GRIA2_ENST00000449365.1_Missense_Mutation_p.G698V|GRIA2_ENST00000507898.1_Missense_Mutation_p.G698V|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.G745V	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	745					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATGAAAGTTGGTGGAAACCTG	0.438																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(2233-2235)GGT>GTT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						141.0	121.0	128.0					4																	158281238		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158281238G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2234G>T	4.37:g.158281238G>T	ENSP00000264426:p.Gly745Val					GRIA2_uc011cit.1_Missense_Mutation_p.G698V|GRIA2_uc003ipl.3_Missense_Mutation_p.G745V|GRIA2_uc003ipk.3_Missense_Mutation_p.G698V|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.G55V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.G55V|GRIA2_uc011ciy.1_Missense_Mutation_p.G55V|GRIA2_uc011ciz.1_RNA	p.G745V	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	13	2693	+	all_hematologic(180;0.24)	Renal(120;0.0458)	745			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.2234G>T	CCDS43274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.498004|3.498004	0.64186|0.64186	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000421983;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89;0.89|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90215|0.90215	0.6941|0.6941	H|H	0.97158|0.97158	3.95|3.95	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	0.999;0.999;0.982;1.0;1.0;0.999|.	D|D	0.93057|0.93057	0.6471|0.6471	10|5	0.87932|.	D|.	0|.	.|.	19.6373|19.6373	0.95740|0.95740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	773;745;13;745;745;698|.	Q59F93;P42262-3;B8XY72;P42262;P42262-2;A8MT92|.	.;.;.;GRIA2_HUMAN;.;.|.	V|C	698;698;745;745;17;698|75	ENSP00000426845:G698V;ENSP00000377403:G698V;ENSP00000296526:G745V;ENSP00000264426:G745V;ENSP00000389837:G698V|.	ENSP00000264426:G745V|.	G|W	+|+	2|3	0|0	GRIA2|GRIA2	158500688|158500688	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.989000|0.989000	0.77384|0.77384	9.869000|9.869000	0.99810|0.99810	2.636000|2.636000	0.89361|0.89361	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.438	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			14	56	1	0	2.32e-05	4.12e-05	14	56				
FSTL5	56884	broad.mit.edu	37	4	162380450	162380450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:162380450G>C	ENST00000306100.5	-	14	2066	c.1630C>G	c.(1630-1632)Cca>Gca	p.P544A	FSTL5_ENST00000427802.2_Missense_Mutation_p.P534A|FSTL5_ENST00000536695.1_Missense_Mutation_p.P543A|FSTL5_ENST00000379164.4_Missense_Mutation_p.P543A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	544						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATTTAACTGGGACAGGGTCT	0.378																																						uc003iqh.2		NA																	0				ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1630-1632)CCA>GCA		follistatin-like 5 isoform a							116.0	105.0	108.0					4																	162380450		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162380450G>C	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1630C>G	4.37:g.162380450G>C	ENSP00000305334:p.Pro544Ala					FSTL5_uc003iqi.2_Missense_Mutation_p.P543A|FSTL5_uc010iqv.2_Missense_Mutation_p.P534A	p.P544A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	14	2066	-	all_hematologic(180;0.24)		544					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1630C>G	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.549162	0.86127	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60327	0.2260	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.996	T	0.64613	-0.6366	10	0.87932	D	0	.	18.4765	0.90795	0.0:0.0:1.0:0.0	.	534;543;544	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	A	544;543;534;543	ENSP00000305334:P544A;ENSP00000368462:P543A;ENSP00000389270:P534A;ENSP00000440409:P543A	ENSP00000305334:P544A	P	-	1	0	FSTL5	162599900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.669000	0.90835	0.645000	0.84053	CCA		0.378	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		10	56	0	0	0	0	10	56				
TKTL2	84076	broad.mit.edu	37	4	164393884	164393884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:164393884C>A	ENST00000280605.3	-	1	1163	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	335						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ctttcatttgcacggcccagt	0.418																																						uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1003-1005)GCA>TCA		transketolase-like 2							120.0	118.0	119.0					4																	164393884		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164393884C>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1003G>T	4.37:g.164393884C>A	ENSP00000280605:p.Ala335Ser						p.A335S	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	1164	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	335					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.1003G>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003847	0.19199	.	.	ENSG00000151005	ENST00000280605	D	0.91464	-2.85	4.3	1.55	0.23275	Transketolase-like, pyrimidine-binding domain (2);	0.263539	0.35870	N	0.002936	D	0.82467	0.5043	L	0.38175	1.15	0.09310	N	0.999999	B	0.12630	0.006	B	0.20767	0.031	T	0.68228	-0.5464	10	0.33141	T	0.24	-1.8272	5.2372	0.15452	0.1705:0.6425:0.0:0.1869	.	335	Q9H0I9	TKTL2_HUMAN	S	335	ENSP00000280605:A335S	ENSP00000280605:A335S	A	-	1	0	TKTL2	164613334	0.003000	0.15002	0.000000	0.03702	0.909000	0.53808	0.993000	0.29680	0.310000	0.22990	0.655000	0.94253	GCA		0.418	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		32	105	1	0	1.63e-12	3.37e-12	32	105				
CYP4V2	285440	broad.mit.edu	37	4	187120147	187120147	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187120147C>T	ENST00000378802.4	+	6	1015	c.711C>T	c.(709-711)ccC>ccT	p.P237P		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	237					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TAAAGATGCCCTGGCTTTGGC	0.368																																						uc003iyw.3		NA																	0					0						c.(709-711)CCC>CCT		cytochrome P450, family 4, subfamily v,							151.0	147.0	148.0					4																	187120147		2203	4300	6503	SO:0001819	synonymous_variant	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187120147C>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.711C>T	4.37:g.187120147C>T							p.P237P	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	6	1015	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	237					B7U6W2|Q6ZTM4	Silent	SNP	ENST00000378802.4	37	c.711C>T	CCDS34119.1																																																																																				0.368	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		15	55	0	0	0	0	15	55				
FAT1	2195	broad.mit.edu	37	4	187629394	187629394	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:187629394T>A	ENST00000441802.2	-	2	1797	c.1588A>T	c.(1588-1590)Atg>Ttg	p.M530L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	530	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCCGAGGCATCAGTTCGTAG	0.473										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1588-1590)ATG>TTG		FAT tumor suppressor 1 precursor							102.0	97.0	99.0					4																	187629394		1974	4150	6124	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629394T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1588A>T	4.37:g.187629394T>A	ENSP00000406229:p.Met530Leu	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.M530L	p.M530L	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1776	-			530			Extracellular (Potential).|Cadherin 4.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1588A>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901247	0.72754	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.50813	0.73	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	N	0.17922	0.545	0.80722	D	1	P	0.45176	0.852	P	0.54372	0.75	T	0.33904	-0.9850	10	0.23302	T	0.38	.	15.9198	0.79552	0.0:0.0:0.0:1.0	.	530	Q14517	FAT1_HUMAN	L	530	ENSP00000406229:M530L	ENSP00000260147:M530L	M	-	1	0	FAT1	187866388	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.868000	0.87116	2.343000	0.79666	0.533000	0.62120	ATG		0.473	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		24	65	0	0	0	0	24	65				
CTNND2	1501	broad.mit.edu	37	5	11082934	11082934	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:11082934C>G	ENST00000304623.8	-	16	2851	c.2662G>C	c.(2662-2664)Gtc>Ctc	p.V888L	CTNND2_ENST00000458100.2_Missense_Mutation_p.V455L|CTNND2_ENST00000503622.1_Missense_Mutation_p.V551L|CTNND2_ENST00000359640.2_Missense_Mutation_p.V830L|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.V797L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	888					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTTTCGGACAGCGGCTCGG	0.532																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2662-2664)GTC>CTC		catenin (cadherin-associated protein), delta 2							79.0	71.0	74.0					5																	11082934		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082934C>G	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2662G>C	5.37:g.11082934C>G	ENSP00000307134:p.Val888Leu					CTNND2_uc010itt.2_Missense_Mutation_p.V797L|CTNND2_uc011cmy.1_Missense_Mutation_p.V551L|CTNND2_uc011cmz.1_Missense_Mutation_p.V455L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.V480L	p.V888L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2807	-			888			ARM 8.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2662G>C	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835506	0.91117	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	4.93	4.93	0.64822	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	M	0.74546	2.27	0.80722	D	1	D;D;D	0.69078	0.992;0.992;0.997	D;D;D	0.79108	0.989;0.989;0.992	D	0.84356	0.0535	10	0.46703	T	0.11	-19.1993	18.4893	0.90841	0.0:1.0:0.0:0.0	.	551;480;888	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	L	888;830;797;455;551	ENSP00000307134:V888L;ENSP00000352661:V830L;ENSP00000426510:V797L;ENSP00000391155:V455L;ENSP00000426887:V551L	ENSP00000307134:V888L	V	-	1	0	CTNND2	11135934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.731000	0.84895	2.439000	0.82584	0.563000	0.77884	GTC		0.532	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		30	22	0	0	0	0	30	22				
FGF10	2255	broad.mit.edu	37	5	44310549	44310549	+	Missense_Mutation	SNP	T	T	C	rs104893887		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:44310549T>C	ENST00000264664.4	-	2	523	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	137					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGTTTCCCCTTCTTGTTCATG	0.388																																						uc003jog.1		NA																	0				lung(3)	3	GRCh37	CM060991	FGF10	M	rs104893887	c.(409-411)AAG>GAG		fibroblast growth factor 10 precursor							123.0	108.0	113.0					5																	44310549		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44310549T>C		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.409A>G	5.37:g.44310549T>C	ENSP00000264664:p.Lys137Glu						p.K137E	NM_004465	NP_004456	O15520	FGF10_HUMAN			2	409	-	Lung NSC(6;1.12e-06)		137					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.409A>G	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.603440	0.46423	.	.	ENSG00000070193	ENST00000264664	D	0.88431	-2.38	5.62	5.62	0.85841	.	0.212596	0.47852	D	0.000203	D	0.83922	0.5359	L	0.39898	1.24	0.53005	D	0.99996	B	0.15141	0.012	B	0.17098	0.017	T	0.78945	-0.2004	10	0.12103	T	0.63	.	15.8163	0.78604	0.0:0.0:0.0:1.0	.	137	O15520	FGF10_HUMAN	E	137	ENSP00000264664:K137E	ENSP00000264664:K137E	K	-	1	0	FGF10	44346306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.138000	0.66242	0.383000	0.25322	AAG		0.388	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		9	38	0	0	0	0	9	38				
NLN	57486	broad.mit.edu	37	5	65118660	65118660	+	Missense_Mutation	SNP	G	G	T	rs373308764		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:65118660G>T	ENST00000380985.5	+	13	2210	c.2032G>T	c.(2032-2034)Ggc>Tgc	p.G678C	NLN_ENST00000502464.1_Missense_Mutation_p.G574C|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	678						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		ATCTCTGGACGGCATGGACAT	0.413																																						uc003juf.2		NA																	0				central_nervous_system(1)	1						c.(2032-2034)GGC>TGC		neurolysin precursor							143.0	137.0	139.0					5																	65118660		2203	4300	6503	SO:0001583	missense	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65118660G>T	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.2032G>T	5.37:g.65118660G>T	ENSP00000370372:p.Gly678Cys					NLN_uc003jug.2_Missense_Mutation_p.G507C|NLN_uc010iww.2_Missense_Mutation_p.G355C	p.G678C	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	13	2148	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	678					Q9ULJ4	Missense_Mutation	SNP	ENST00000380985.5	37	c.2032G>T	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128146	0.77549	.	.	ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000511299	T;T;T	0.07908	3.15;3.15;3.15	5.75	5.75	0.90469	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.00763	-1.1576	10	0.87932	D	0	-13.7748	19.9598	0.97242	0.0:0.0:1.0:0.0	.	355;678	Q96K48;Q9BYT8	.;NEUL_HUMAN	C	678;574;388	ENSP00000370372:G678C;ENSP00000423214:G574C;ENSP00000427417:G388C	ENSP00000370372:G678C	G	+	1	0	NLN	65154416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.094000	0.89533	2.716000	0.92895	0.655000	0.94253	GGC		0.413	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			28	42	1	0	7.26e-15	1.54e-14	28	42				
CAMK4	814	broad.mit.edu	37	5	110819999	110819999	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:110819999G>A	ENST00000282356.4	+	11	1655	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Silent_p.K419K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	419					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGTGCCCAAGGCAGTGGAGG	0.537																																						uc011cvj.1		NA																	0				ovary(3)|lung(2)	5						c.(1255-1257)AAG>AAA		calcium/calmodulin-dependent protein kinase IV							52.0	54.0	54.0					5																	110819999		2202	4300	6502	SO:0001819	synonymous_variant	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110819999G>A	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1257G>A	5.37:g.110819999G>A						CAMK4_uc003kpf.2_Silent_p.K419K|CAMK4_uc010jbv.2_Silent_p.K222K|CAMK4_uc003kpg.2_Silent_p.K110K	p.K419K	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	12	1356	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	419					D3DSZ7	Silent	SNP	ENST00000282356.4	37	c.1257G>A	CCDS4103.1																																																																																				0.537	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		15	35	0	0	0	0	15	35				
PCDHA1	56147	broad.mit.edu	37	5	140168241	140168241	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140168241C>G	ENST00000504120.2	+	1	2366	c.2366C>G	c.(2365-2367)cCa>cGa	p.P789R	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P789R|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	789	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGAACAACCAGAAGCAAAT	0.413																																						uc003lhb.2		NA																	0				skin(1)	1						c.(2365-2367)CCA>CGA		protocadherin alpha 1 isoform 1 precursor							39.0	38.0	38.0					5																	140168241		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140168241C>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2366C>G	5.37:g.140168241C>G	ENSP00000420840:p.Pro789Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.P789R	p.P789R	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2366	+			789			Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P.		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.2366C>G	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	7.458	0.644142	0.14451	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.10382	2.88;2.88	4.21	3.25	0.37280	.	0.527164	0.13767	U	0.364130	T	0.05547	0.0146	N	0.12182	0.205	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.001;0.005	T	0.36212	-0.9757	10	0.21014	T	0.42	.	6.8615	0.24069	0.1968:0.6119:0.1913:0.0	.	789;789	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	R	789	ENSP00000420840:P789R;ENSP00000367373:P789R	ENSP00000367373:P789R	P	+	2	0	PCDHA1	140148425	0.004000	0.15560	0.019000	0.16419	0.436000	0.31835	0.620000	0.24403	2.075000	0.62263	0.639000	0.83563	CCA		0.413	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		5	13	0	0	0	0	5	13				
PCDHA6	56142	broad.mit.edu	37	5	140207985	140207985	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140207985C>T	ENST00000529310.1	+	1	423	c.309C>T	c.(307-309)agC>agT	p.S103S	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.S103S|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S103R(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAGTGCAGCATCCACCTGG	0.587																																						uc003lho.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(307-309)AGC>AGT		protocadherin alpha 6 isoform 1 precursor							112.0	124.0	120.0					5																	140207985		2203	4296	6499	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207985C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.309C>T	5.37:g.140207985C>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.S103S|PCDHA6_uc011dab.1_Silent_p.S103S	p.S103S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	336	+			103			Cadherin 1.|Extracellular (Potential).		O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.309C>T	CCDS47281.1																																																																																				0.587	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		58	152	0	0	0	0	58	152				
PCDHAC2	56134	broad.mit.edu	37	5	140346945	140346945	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140346945G>A	ENST00000289269.5	+	1	1126	c.594G>A	c.(592-594)aaG>aaA	p.K198K	PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	198	Cadherin 2. {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(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCTTAAGCCCCTGCAGG	0.612																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(592-594)AAG>AAA		protocadherin alpha subfamily C, 2 isoform 1							33.0	28.0	30.0					5																	140346945		2203	4299	6502	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346945G>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.594G>A	5.37:g.140346945G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Silent_p.K198K	p.K198K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	834	+			198			Cadherin 2.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	c.594G>A	CCDS4242.1																																																																																				0.612	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		5	16	0	0	0	0	5	16				
PCDHGA2	56113	broad.mit.edu	37	5	140719217	140719217	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:140719217C>T	ENST00000394576.2	+	1	679	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	227	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCTCCCGCATCTGCGT	0.597																																						uc003ljk.1		NA																	0				skin(2)|ovary(1)	3						c.(679-681)CGC>TGC		protocadherin gamma subfamily A, 2 isoform 1							76.0	71.0	73.0					5																	140719217		2203	4300	6503	SO:0001583	missense	56113				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140719217C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.679C>T	5.37:g.140719217C>T	ENSP00000378077:p.Arg227Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R227C	p.R227C	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	864	+			227			Extracellular (Potential).|Cadherin 2.		Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.679C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.109	0.205694	0.09704	.	.	ENSG00000081853	ENST00000394576	T	0.01804	4.63	5.26	4.4	0.53042	Cadherin (4);Cadherin-like (1);	0.000000	0.41500	U	0.000880	T	0.04318	0.0119	M	0.88842	2.985	0.09310	N	1	B;B	0.28350	0.017;0.208	B;B	0.27608	0.048;0.081	T	0.18967	-1.0320	10	0.54805	T	0.06	.	7.8697	0.29558	0.2689:0.6549:0.0:0.0762	.	227;227	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	C	227	ENSP00000378077:R227C	ENSP00000378077:R227C	R	+	1	0	PCDHGA2	140699401	0.000000	0.05858	0.999000	0.59377	0.115000	0.19883	-0.277000	0.08502	1.362000	0.46000	-0.150000	0.13652	CGC		0.597	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		14	47	0	0	0	0	14	47				
SH3TC2	79628	broad.mit.edu	37	5	148407522	148407522	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:148407522C>A	ENST00000515425.1	-	11	1874	c.1773G>T	c.(1771-1773)ctG>ctT	p.L591L	SH3TC2_ENST00000394358.2_Silent_p.L476L|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Silent_p.L138L|SH3TC2_ENST00000512049.1_Silent_p.L584L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	591					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTTCCAACAGGGCGGAGC	0.562																																						uc003lpu.2		NA																	0				ovary(2)	2						c.(1771-1773)CTG>CTT		SH3 domain and tetratricopeptide repeats 2							65.0	63.0	64.0					5																	148407522		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148407522C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1773G>T	5.37:g.148407522C>A						SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L235L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L138L|SH3TC2_uc010jgx.2_Silent_p.L584L|SH3TC2_uc003lpv.1_Silent_p.L138L|SH3TC2_uc011dbz.1_Silent_p.L476L	p.L591L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1925	-			591					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.1773G>T	CCDS4293.1																																																																																				0.562	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		20	37	1	0	1.64e-05	2.93e-05	20	37				
NSD1	64324	broad.mit.edu	37	5	176710803	176710803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr5:176710803G>A	ENST00000439151.2	+	20	6070	c.6025G>A	c.(6025-6027)Gct>Act	p.A2009T	NSD1_ENST00000347982.4_Missense_Mutation_p.A1740T|NSD1_ENST00000361032.4_Missense_Mutation_p.A1906T|NSD1_ENST00000354179.4_Missense_Mutation_p.A1740T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2009	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATCATTGATGCTGGTCCCAA	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(6025-6027)GCT>ACT		nuclear receptor binding SET domain protein 1							118.0	113.0	115.0					5																	176710803		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710803G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6025G>A	5.37:g.176710803G>A	ENSP00000395929:p.Ala2009Thr	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.A1740T|NSD1_uc011dfx.1_Missense_Mutation_p.A1657T	p.A2009T	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6163	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2009			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6025G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	36	5.628305	0.96671	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	5.42	5.42	0.78866	SET domain (3);	0.000000	0.64402	D	0.000013	D	0.98077	0.9366	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98997	1.0810	10	0.87932	D	0	.	19.5951	0.95533	0.0:0.0:1.0:0.0	.	1740;2009	Q96L73-2;Q96L73	.;NSD1_HUMAN	T	1740;2009;1740;1906	ENSP00000346111:A1740T;ENSP00000395929:A2009T;ENSP00000343209:A1740T;ENSP00000354310:A1906T	ENSP00000343209:A1740T	A	+	1	0	NSD1	176643409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.814000	0.99346	2.705000	0.92388	0.591000	0.81541	GCT		0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		26	72	0	0	0	0	26	72				
OR2B2	81697	broad.mit.edu	37	6	27879226	27879226	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:27879226G>A	ENST00000303324.2	-	1	948	c.872C>T	c.(871-873)aCa>aTa	p.T291I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTTCCTAAGTGTATATATAAG	0.398																																						uc011dkw.1		NA																	0					0						c.(871-873)ACA>ATA		olfactory receptor, family 2, subfamily B,							71.0	72.0	72.0					6																	27879226		2203	4300	6503	SO:0001583	missense	81697				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27879226G>A	Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.872C>T	6.37:g.27879226G>A	ENSP00000304419:p.Thr291Ile						p.T291I	NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN			1	872	-			291			Helical; Name=7; (Potential).		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	c.872C>T	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866694	0.51588	.	.	ENSG00000168131	ENST00000303324	T	0.36157	1.27	4.16	4.16	0.48862	.	0.000000	0.40302	U	0.001128	T	0.25382	0.0617	L	0.35542	1.07	0.24276	N	0.995229	P	0.52842	0.956	P	0.50754	0.649	T	0.04307	-1.0961	10	0.87932	D	0	.	14.7438	0.69474	0.0:0.0:1.0:0.0	.	291	Q9GZK3	OR2B2_HUMAN	I	291	ENSP00000304419:T291I	ENSP00000304419:T291I	T	-	2	0	OR2B2	27987205	0.747000	0.28283	0.995000	0.50966	0.688000	0.40055	1.255000	0.32909	2.236000	0.73375	0.313000	0.20887	ACA		0.398	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1			10	44	0	0	0	0	10	44				
ZBED9	114821	broad.mit.edu	37	6	28543800	28543800	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:28543800T>A	ENST00000452236.2	-	3	1299	c.682A>T	c.(682-684)Aga>Tga	p.R228*	SCAND3_ENST00000530247.1_5'UTR	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GCTAAGCTTCTGAAGAACTTT	0.348																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(682-684)AGA>TGA		SCAN domain containing 3							82.0	84.0	84.0					6																	28543800		2203	4299	6502	SO:0001587	stop_gained	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543800T>A																												ENST00000452236.2:c.682A>T	6.37:g.28543800T>A	ENSP00000395259:p.Arg228*						p.R228*	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	1300	-			228						Nonsense_Mutation	SNP	ENST00000452236.2	37	c.682A>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	38	7.207635	0.98136	.	.	ENSG00000232040	ENST00000452236	.	.	.	2.54	2.54	0.30619	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.0144	0.24881	0.0:0.0:0.0:1.0	.	.	.	.	X	228	.	ENSP00000395259:R228X	R	-	1	2	SCAND3	28651779	0.998000	0.40836	0.999000	0.59377	0.996000	0.88848	0.506000	0.22658	1.419000	0.47118	0.477000	0.44152	AGA		0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			8	50	0	0	0	0	8	50				
C6orf222	389384	broad.mit.edu	37	6	36294357	36294357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:36294357C>T	ENST00000437635.2	-	5	1143	c.966G>A	c.(964-966)tgG>tgA	p.W322*		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	322										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCTTGGGTGGCCAGGCCTCTG	0.572																																						uc003oly.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(964-966)TGG>TGA		hypothetical protein LOC389384							108.0	112.0	111.0					6																	36294357		2203	4300	6503	SO:0001587	stop_gained	389384							g.chr6:36294357C>T		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.966G>A	6.37:g.36294357C>T	ENSP00000418983:p.Trp322*						p.W322*	NM_001010903	NP_001010903	P0C671	CF222_HUMAN			5	1144	-			322					B2RTY8	Nonsense_Mutation	SNP	ENST00000437635.2	37	c.966G>A	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362641	0.82353	.	.	ENSG00000189325	ENST00000437635	.	.	.	3.4	2.52	0.30459	.	0.000000	0.45606	D	0.000348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	0.0028	6.5878	0.22630	0.0:0.8682:0.0:0.1318	.	.	.	.	X	322	.	ENSP00000418983:W322X	W	-	3	0	C6orf222	36402335	0.947000	0.32204	0.364000	0.25888	0.387000	0.30353	1.024000	0.30077	0.996000	0.38943	0.462000	0.41574	TGG		0.572	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		16	100	0	0	0	0	16	100				
DNAH8	1769	broad.mit.edu	37	6	38854730	38854730	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:38854730C>A	ENST00000359357.3	+	55	8026	c.7772C>A	c.(7771-7773)aCt>aAt	p.T2591N	DNAH8_ENST00000441566.1_Missense_Mutation_p.T2555N|DNAH8_ENST00000449981.2_Missense_Mutation_p.T2808N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2591	AAA 3. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACAATTTACTGTGTTTAAT	0.338																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(7771-7773)ACT>AAT		dynein, axonemal, heavy polypeptide 8							122.0	117.0	118.0					6																	38854730		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38854730C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7772C>A	6.37:g.38854730C>A	ENSP00000352312:p.Thr2591Asn						p.T2591N	NM_001371	NP_001362					55	8372	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7772C>A		.	.	.	.	.	.	.	.	.	.	C	13.07	2.126688	0.37533	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.36340	1.26;1.26;1.26	5.33	5.33	0.75918	ATPase, AAA+ type, core (1);	0.260804	0.35903	N	0.002904	T	0.05410	0.0143	N	0.01874	-0.695	0.35567	D	0.805155	B	0.12013	0.005	B	0.15484	0.013	T	0.16453	-1.0402	10	0.02654	T	1	.	16.0942	0.81110	0.0:0.8663:0.1337:0.0	.	2591	Q96JB1	DYH8_HUMAN	N	2796;2796;2591;2555	ENSP00000333363:T2796N;ENSP00000352312:T2591N;ENSP00000402294:T2555N	ENSP00000333363:T2796N	T	+	2	0	DNAH8	38962708	0.567000	0.26626	0.997000	0.53966	0.969000	0.65631	2.145000	0.42207	2.501000	0.84356	0.561000	0.74099	ACT		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		12	25	1	0	4.37e-10	8.84e-10	12	25				
POLH	5429	broad.mit.edu	37	6	43581937	43581937	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:43581937G>T	ENST00000372236.4	+	11	2080	c.1785G>T	c.(1783-1785)atG>atT	p.M595I	POLH_ENST00000535400.1_Missense_Mutation_p.M533I|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CTGCAGAGATGGATTTGGCCC	0.488								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													uc003ovq.3		NA																	0				breast(2)	2						c.(1783-1785)ATG>ATT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase eta							66.0	69.0	68.0					6																	43581937		2203	4300	6503	SO:0001583	missense	5429	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43581937G>T	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1785G>T	6.37:g.43581937G>T	ENSP00000361310:p.Met595Ile					POLH_uc010jyu.2_Missense_Mutation_p.M471I|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Missense_Mutation_p.M496I	p.M595I	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	2089	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		595					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.1785G>T	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	4.051	0.007081	0.07866	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.57752	0.49;0.38	5.38	2.55	0.30701	.	1.583280	0.02485	N	0.088870	T	0.22551	0.0544	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06215	-1.0839	10	0.33940	T	0.23	-24.579	5.5433	0.17049	0.1756:0.0:0.6625:0.1619	.	533;595	B4DG64;Q9Y253	.;POLH_HUMAN	I	595;533	ENSP00000361310:M595I;ENSP00000442102:M533I	ENSP00000361310:M595I	M	+	3	0	POLH	43689915	0.000000	0.05858	0.026000	0.17262	0.261000	0.26267	0.321000	0.19558	0.741000	0.32674	0.561000	0.74099	ATG		0.488	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		12	53	1	0	1.62e-10	3.31e-10	12	53				
PHF3	23469	broad.mit.edu	37	6	64422632	64422632	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:64422632A>T	ENST00000262043.3	+	16	5488	c.5148A>T	c.(5146-5148)ttA>ttT	p.L1716F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1716F			Q92576	PHF3_HUMAN	PHD finger protein 3	1716					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTGACAATTTAAAAGTTGCAC	0.373																																					GBM(135;136 1820 29512 34071 46235)	uc003pep.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(5146-5148)TTA>TTT		PHD finger protein 3							66.0	66.0	66.0					6																	64422632		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422632A>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5148A>T	6.37:g.64422632A>T	ENSP00000262043:p.Leu1716Phe					PHF3_uc003pen.2_Missense_Mutation_p.L1628F|PHF3_uc011dxs.1_Missense_Mutation_p.L985F	p.L1716F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	5174	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1716					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.5148A>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	0.020	-1.444369	0.01089	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21932	1.98;1.98	5.97	0.351	0.16042	.	0.257625	0.20577	N	0.089618	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45483	-0.9258	9	.	.	.	-0.4471	4.0039	0.09592	0.609:0.1135:0.0602:0.2173	.	1716	Q92576	PHF3_HUMAN	F	1716	ENSP00000262043:L1716F;ENSP00000377048:L1716F	.	L	+	3	2	PHF3	64480591	0.274000	0.24191	0.051000	0.19133	0.064000	0.16182	1.211000	0.32382	0.117000	0.18138	-0.313000	0.08912	TTA		0.373	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			9	27	0	0	0	0	9	27				
COL19A1	1310	broad.mit.edu	37	6	70861308	70861308	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:70861308G>C	ENST00000322773.4	+	31	2159	c.2057G>C	c.(2056-2058)gGa>gCa	p.G686A	COL19A1_ENST00000393344.1_Missense_Mutation_p.G308A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	686	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCTCTCTTGGGAGACATCGGT	0.308																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(2056-2058)GGA>GCA		alpha 1 type XIX collagen precursor							141.0	136.0	138.0					6																	70861308		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70861308G>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2057G>C	6.37:g.70861308G>C	ENSP00000316030:p.Gly686Ala					COL19A1_uc010kam.1_Missense_Mutation_p.G582A	p.G686A	NM_001858	NP_001849	Q14993	COJA1_HUMAN			31	2174	+			686			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2057G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096230	0.56075	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91521	-2.86;-2.78	5.77	5.77	0.91146	.	0.137277	0.49916	D	0.000135	D	0.93194	0.7832	L	0.50919	1.6	0.41359	D	0.987412	D	0.76494	0.999	D	0.85130	0.997	D	0.93218	0.6606	10	0.59425	D	0.04	.	18.159	0.89702	0.0:0.0:1.0:0.0	.	686	Q14993	COJA1_HUMAN	A	686;308	ENSP00000316030:G686A;ENSP00000377013:G308A	ENSP00000316030:G686A	G	+	2	0	COL19A1	70918029	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.706000	0.74649	2.724000	0.93272	0.650000	0.86243	GGA		0.308	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			16	64	0	0	0	0	16	64				
SNAP91	9892	broad.mit.edu	37	6	84375158	84375158	+	Splice_Site	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:84375158C>A	ENST00000439399.2	-	3	589	c.273G>T	c.(271-273)gaG>gaT	p.E91D	SNAP91_ENST00000437520.1_Splice_Site_p.E91D|SNAP91_ENST00000521485.1_Splice_Site_p.E91D|SNAP91_ENST00000195649.6_Splice_Site_p.E91D|SNAP91_ENST00000369694.2_Splice_Site_p.E91D|SNAP91_ENST00000428679.2_Splice_Site_p.E91D|SNAP91_ENST00000521743.1_Splice_Site_p.E91D|SNAP91_ENST00000520302.1_Splice_Site_p.E91D|SNAP91_ENST00000520213.1_Splice_Site_p.E91D	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	91	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CTTAGTTTACCTCATTTCCAT	0.408																																						uc011dze.1		NA																	0				ovary(1)	1						c.(271-273)GAG>GAT		synaptosomal-associated protein, 91kDa homolog							196.0	185.0	189.0					6																	84375158		1882	4112	5994	SO:0001630	splice_region_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84375158C>A	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.273+1G>T	6.37:g.84375158C>A						SNAP91_uc003pkb.2_Missense_Mutation_p.E56D|SNAP91_uc003pkc.2_Missense_Mutation_p.E91D|SNAP91_uc003pkd.2_Missense_Mutation_p.E91D|SNAP91_uc003pka.2_Missense_Mutation_p.E91D|SNAP91_uc011dzf.1_Intron	p.E91D	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	3	590	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	91			ENTH.		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.273G>T	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754987	0.89843	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690;ENST00000523484	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.59	5.59	0.84812	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.59362	0.2188	M	0.90977	3.165	0.80722	D	1	P;P;P;P	0.52061	0.857;0.882;0.95;0.882	P;P;D;P	0.64144	0.823;0.889;0.922;0.889	T	0.65948	-0.6044	9	.	.	.	-12.6023	19.956	0.97218	0.0:1.0:0.0:0.0	.	91;91;91;91	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	D	91	ENSP00000429776:E91D;ENSP00000358708:E91D;ENSP00000400459:E91D;ENSP00000195649:E91D;ENSP00000412492:E91D;ENSP00000413277:E91D;ENSP00000428511:E91D;ENSP00000428215:E91D;ENSP00000428026:E91D;ENSP00000430071:E91D;ENSP00000429429:E91D;ENSP00000430441:E91D;ENSP00000358704:E91D;ENSP00000427959:E91D	.	E	-	3	2	SNAP91	84431877	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.032000	0.70918	2.788000	0.95919	0.557000	0.71058	GAG		0.408	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1		Missense_Mutation	53	136	1	0	2.84e-21	6.28e-21	53	136				
HTR1E	3354	broad.mit.edu	37	6	87725251	87725251	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:87725251A>G	ENST00000305344.5	+	2	902	c.199A>G	c.(199-201)Acg>Gcg	p.T67A		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	67					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCTGGCCGTGACGGACCTCCT	0.557																																						uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(199-201)ACG>GCG		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						177.0	141.0	153.0					6																	87725251		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725251A>G		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.199A>G	6.37:g.87725251A>G	ENSP00000307766:p.Thr67Ala						p.T67A	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	902	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	67			Helical; Name=2; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.199A>G	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129346	0.56721	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.63580	-0.05;-0.05	4.4	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000010	T	0.45875	0.1364	N	0.17312	0.475	0.44745	D	0.997746	D	0.89917	1.0	D	0.97110	1.0	T	0.51818	-0.8657	10	0.02654	T	1	.	13.8983	0.63787	1.0:0.0:0.0:0.0	.	67	P28566	5HT1E_HUMAN	A	67	ENSP00000307766:T67A;ENSP00000358597:T67A	ENSP00000307766:T67A	T	+	1	0	HTR1E	87781970	1.000000	0.71417	0.993000	0.49108	0.838000	0.47535	6.943000	0.75934	1.746000	0.51805	0.416000	0.27883	ACG		0.557	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		29	83	0	0	0	0	29	83				
CASP8AP2	9994	broad.mit.edu	37	6	90572117	90572117	+	RNA	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:90572117C>G	ENST00000551025.1	+	0	2126									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGGTCACGTTCTCATTATCAG	0.393																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.2		NA																	0				ovary(2)	2						c.(688-690)TCT>TGT		caspase 8 associated protein 2							253.0	236.0	241.0					6																	90572117		1919	4127	6046			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572117C>G	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572117C>G						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.S230C|CASP8AP2_uc011dzz.1_Missense_Mutation_p.S230C	p.S230C	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	885	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	230						Missense_Mutation	SNP	ENST00000551025.1	37	c.689C>G																																																																																					0.393	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		72	173	0	0	0	0	72	173				
FUT9	10690	broad.mit.edu	37	6	96652001	96652001	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:96652001G>C	ENST00000302103.5	+	3	1296	c.970G>C	c.(970-972)Gta>Cta	p.V324L		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	324					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GGATTTCACTGTAAATCTTCC	0.363																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3		NA																	0				skin(4)|ovary(1)	5						c.(970-972)GTA>CTA		fucosyltransferase 9 (alpha (1,3)							89.0	90.0	90.0					6																	96652001		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96652001G>C	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.970G>C	6.37:g.96652001G>C	ENSP00000302599:p.Val324Leu						p.V324L	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1311	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	324			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.970G>C	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952149	0.73787	.	.	ENSG00000172461	ENST00000302103	T	0.25250	1.81	5.5	5.5	0.81552	.	0.057746	0.64402	D	0.000002	T	0.33731	0.0873	L	0.60455	1.87	0.58432	D	0.999997	P	0.52692	0.955	P	0.57548	0.823	T	0.00998	-1.1486	10	0.33940	T	0.23	-10.0128	18.3764	0.90437	0.0:0.0:1.0:0.0	.	324	Q9Y231	FUT9_HUMAN	L	324	ENSP00000302599:V324L	ENSP00000302599:V324L	V	+	1	0	FUT9	96758722	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.586000	0.87340	0.467000	0.42956	GTA		0.363	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	29	0	0	0	0	15	29				
LAMA2	3908	broad.mit.edu	37	6	129802530	129802530	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:129802530G>A	ENST00000421865.2	+	55	7744	c.7695G>A	c.(7693-7695)ttG>ttA	p.L2565L	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2565	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCATTCTTTTGGGAAGTGGAG	0.478																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(7693-7695)TTG>TTA		laminin alpha 2 subunit isoform a precursor							148.0	142.0	144.0					6																	129802530		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129802530G>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7695G>A	6.37:g.129802530G>A						LAMA2_uc003qbo.2_Silent_p.L2561L|uc003qbq.2_RNA	p.L2565L	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7800	+			2565			Laminin G-like 3.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.7695G>A	CCDS5138.1																																																																																				0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			13	66	0	0	0	0	13	66				
VNN1	8876	broad.mit.edu	37	6	133013716	133013716	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:133013716G>T	ENST00000367928.4	-	5	847	c.834C>A	c.(832-834)ggC>ggA	p.G278G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	278	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GTGCATAGATGCCACTTCCTG	0.358																																						uc003qdo.2		NA																	0				ovary(3)	3						c.(832-834)GGC>GGA		vanin 1 precursor							42.0	44.0	43.0					6																	133013716		2203	4300	6503	SO:0001819	synonymous_variant	8876				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	g.chr6:133013716G>T	AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.834C>A	6.37:g.133013716G>T							p.G278G	NM_004666	NP_004657	O95497	VNN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)	5	854	-	Breast(56;0.135)		278			CN hydrolase.		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Silent	SNP	ENST00000367928.4	37	c.834C>A	CCDS5159.1																																																																																				0.358	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1			9	20	1	0	1.59e-06	2.97e-06	9	20				
AHI1	54806	broad.mit.edu	37	6	135639745	135639745	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:135639745T>G	ENST00000367800.4	-	24	3554	c.3338A>C	c.(3337-3339)cAa>cCa	p.Q1113P	AHI1_ENST00000457866.2_Missense_Mutation_p.Q1113P|AHI1_ENST00000417892.2_Missense_Mutation_p.Q467P	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1113					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGGCAGTTCTTGATACAGTGC	0.393																																						uc003qgi.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3337-3339)CAA>CCA		Abelson helper integration site 1 isoform a							42.0	37.0	39.0					6																	135639745		1836	4093	5929	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135639745T>G	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3338A>C	6.37:g.135639745T>G	ENSP00000356774:p.Gln1113Pro					AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.Q563P|AHI1_uc003qgh.2_Missense_Mutation_p.Q1113P|AHI1_uc003qgj.2_Missense_Mutation_p.Q1113P|AHI1_uc003qgk.3_RNA	p.Q1113P	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	26	3722	-	Breast(56;0.239)|Colorectal(23;0.24)		1113					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.3338A>C	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.450|8.450	0.852752|0.852752	0.17106|0.17106	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367799|ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602	.|T;T;T;T	.|0.62788	.|0.35;0.35;-0.0;0.35	5.22|5.22	-2.48|-2.48	0.06423|0.06423	.|.	.|0.908375	.|0.09441	.|N	.|0.801807	T|T	0.22399|0.22399	0.0540|0.0540	N|N	0.19112|0.19112	0.55|0.55	0.19575|0.19575	N|N	0.999966|0.999966	.|P;B	.|0.37781	.|0.608;0.072	.|B;B	.|0.34722	.|0.188;0.087	T|T	0.08743|0.08743	-1.0707|-1.0707	5|10	.|0.34782	.|T	.|0.22	-4.0E-4|-4.0E-4	10.8507|10.8507	0.46769|0.46769	0.0:0.6004:0.0:0.3996|0.0:0.6004:0.0:0.3996	.|.	.|1113;1113	.|Q8N157;Q4FD35	.|AHI1_HUMAN;.	Q|P	613|1113;1113;467;1113	.|ENSP00000356774:Q1113P;ENSP00000388650:Q1113P;ENSP00000416867:Q467P;ENSP00000265602:Q1113P	.|ENSP00000265602:Q1113P	K|Q	-|-	1|2	0|0	AHI1|AHI1	135681438|135681438	0.559000|0.559000	0.26562|0.26562	0.395000|0.395000	0.26283|0.26283	0.843000|0.843000	0.47879|0.47879	0.477000|0.477000	0.22196|0.22196	-0.472000|-0.472000	0.06881|0.06881	-0.376000|-0.376000	0.06991|0.06991	AAG|CAA		0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		3	9	0	0	0	0	3	9				
BCLAF1	9774	broad.mit.edu	37	6	136590672	136590672	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:136590672G>C	ENST00000531224.1	-	9	2374	c.2122C>G	c.(2122-2124)Cgg>Ggg	p.R708G	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R706G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R708G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R535G|BCLAF1_ENST00000031135.9_5'Flank|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R706G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R706G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	708					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GAATCTCCCCGTTCTTTACTT	0.388																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	0				ovary(1)	1						c.(2122-2124)CGG>GGG		BCL2-associated transcription factor 1 isoform							94.0	93.0	93.0					6																	136590672		2203	4299	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136590672G>C	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.2122C>G	6.37:g.136590672G>C	ENSP00000435210:p.Arg708Gly					BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgw.1_Missense_Mutation_p.R535G|BCLAF1_uc003qgy.1_Missense_Mutation_p.R706G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R706G	p.R708G	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	9	2375	-	Colorectal(23;0.24)		708					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2122C>G	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187814	0.21954	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.1	4.23	0.50019	.	0.599767	0.15073	N	0.282061	T	0.08670	0.0215	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.17465	0.022;0.022;0.022;0.022	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.04373	-1.0956	10	0.46703	T	0.11	-2.0E-4	14.0128	0.64507	0.0738:0.0:0.9262:0.0	.	706;706;708;535	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	G	708;706;708;535;706;706;707	ENSP00000435210:R708G;ENSP00000229446:R706G;ENSP00000435441:R708G;ENSP00000436501:R535G;ENSP00000434826:R706G;ENSP00000376159:R706G;ENSP00000431734:R707G	ENSP00000229446:R706G	R	-	1	2	BCLAF1	136632365	1.000000	0.71417	1.000000	0.80357	0.642000	0.38348	7.734000	0.84928	1.289000	0.44618	-0.150000	0.13652	CGG		0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		10	74	0	0	0	0	10	74				
SHPRH	257218	broad.mit.edu	37	6	146262922	146262922	+	Missense_Mutation	SNP	C	C	A	rs574465156		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146262922C>A	ENST00000367505.2	-	10	2591	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SHPRH_ENST00000275233.7_Missense_Mutation_p.R776L|SHPRH_ENST00000367503.3_Missense_Mutation_p.R776L|SHPRH_ENST00000438092.2_Missense_Mutation_p.R776L			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	776	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R776H(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAATTCTGAACGCAGTACATC	0.418																																						uc003qlf.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|endometrium(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2326-2328)CGT>CTT		SNF2 histone linker PHD RING helicase isoform a							67.0	69.0	68.0					6																	146262922		1954	4149	6103	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146262922C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2327G>T	6.37:g.146262922C>A	ENSP00000356475:p.Arg776Leu					SHPRH_uc003qld.2_Missense_Mutation_p.R776L|SHPRH_uc003qle.2_Missense_Mutation_p.R776L|SHPRH_uc003qlg.1_Missense_Mutation_p.R332L|SHPRH_uc003qlj.1_Missense_Mutation_p.R665L	p.R776L	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2726	-		Ovarian(120;0.0365)	776			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2327G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	35	5.501443	0.96371	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.91	5.91	0.95273	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.95674	0.8593	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.95128	0.8252	10	0.59425	D	0.04	-17.2053	20.298	0.98569	0.0:1.0:0.0:0.0	.	665;776;776	Q149N8-2;Q149N8;Q149N8-4	.;SHPRH_HUMAN;.	L	776	ENSP00000356475:R776L;ENSP00000356473:R776L;ENSP00000412797:R776L;ENSP00000275233:R776L	ENSP00000275233:R776L	R	-	2	0	SHPRH	146304615	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.430000	0.80321	2.801000	0.96364	0.650000	0.86243	CGT		0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	50	1	0	8.13e-05	0.000141619	6	50				
SHPRH	257218	broad.mit.edu	37	6	146263002	146263002	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146263002T>G	ENST00000367505.2	-	10	2511	c.2247A>C	c.(2245-2247)caA>caC	p.Q749H	SHPRH_ENST00000275233.7_Missense_Mutation_p.Q749H|SHPRH_ENST00000367503.3_Missense_Mutation_p.Q749H|SHPRH_ENST00000438092.2_Missense_Mutation_p.Q749H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	749	Helicase ATP-binding; second part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCACTCCTTGATATACCT	0.343																																						uc003qlf.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(2245-2247)CAA>CAC		SNF2 histone linker PHD RING helicase isoform a							53.0	51.0	52.0					6																	146263002		1853	4090	5943	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146263002T>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.2247A>C	6.37:g.146263002T>G	ENSP00000356475:p.Gln749His					SHPRH_uc003qld.2_Missense_Mutation_p.Q749H|SHPRH_uc003qle.2_Missense_Mutation_p.Q749H|SHPRH_uc003qlg.1_Missense_Mutation_p.Q305H|SHPRH_uc003qlj.1_Missense_Mutation_p.Q638H	p.Q749H	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	10	2646	-		Ovarian(120;0.0365)	749			Helicase ATP-binding; second part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.2247A>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883185	0.72410	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.9	4.72	0.59763	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.85440	0.5697	N	0.04669	-0.19	0.58432	D	0.999998	B;D;D;D	0.89917	0.082;1.0;0.999;1.0	B;D;D;D	0.91635	0.058;0.999;0.998;0.999	D	0.88583	0.3138	10	0.72032	D	0.01	-20.6721	7.6574	0.28383	0.0:0.0697:0.142:0.7883	.	638;749;749;638	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	H	749;749;749;749;638	ENSP00000356475:Q749H;ENSP00000356473:Q749H;ENSP00000412797:Q749H;ENSP00000275233:Q749H	ENSP00000275233:Q749H	Q	-	3	2	SHPRH	146304695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.740000	0.47418	1.016000	0.39470	0.528000	0.53228	CAA		0.343	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		3	30	0	0	0	0	3	30				
GRM1	2911	broad.mit.edu	37	6	146720036	146720036	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:146720036C>A	ENST00000282753.1	+	7	2096	c.1861C>A	c.(1861-1863)Cca>Aca	p.P621T	GRM1_ENST00000392299.2_Missense_Mutation_p.P621T|GRM1_ENST00000492807.2_Missense_Mutation_p.P621T|GRM1_ENST00000355289.4_Missense_Mutation_p.P621T|GRM1_ENST00000507907.1_Missense_Mutation_p.P621T|GRM1_ENST00000361719.2_Missense_Mutation_p.P621T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	621					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCGGGACACACCAGTGGTCAA	0.483																																						uc010khw.1		NA																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(1861-1863)CCA>ACA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						275.0	225.0	242.0					6																	146720036		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720036C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.1861C>A	6.37:g.146720036C>A	ENSP00000282753:p.Pro621Thr					GRM1_uc010khv.1_Missense_Mutation_p.P621T|GRM1_uc003qll.2_Missense_Mutation_p.P621T|GRM1_uc011edz.1_Missense_Mutation_p.P621T|GRM1_uc011eea.1_Missense_Mutation_p.P621T	p.P621T	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2331	+		Ovarian(120;0.0387)	621			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.1861C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403520	0.83230	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.81	5.81	0.92471	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96753	0.8940	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	D	0.97024	0.9745	10	0.87932	D	0	.	20.0695	0.97716	0.0:1.0:0.0:0.0	.	621;621;621	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	T	621	ENSP00000354896:P621T;ENSP00000376119:P621T;ENSP00000424095:P621T;ENSP00000282753:P621T;ENSP00000347437:P621T;ENSP00000425599:P621T	ENSP00000282753:P621T	P	+	1	0	GRM1	146761729	1.000000	0.71417	0.782000	0.31804	0.986000	0.74619	7.818000	0.86416	2.761000	0.94854	0.585000	0.79938	CCA		0.483	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		42	195	1	0	2.41e-17	5.22e-17	42	195				
AKAP12	9590	broad.mit.edu	37	6	151673477	151673477	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:151673477T>A	ENST00000253332.1	+	3	4140	c.3951T>A	c.(3949-3951)gaT>gaA	p.D1317E	AKAP12_ENST00000402676.2_Missense_Mutation_p.D1317E|AKAP12_ENST00000354675.6_Missense_Mutation_p.D1219E|AKAP12_ENST00000359755.5_Missense_Mutation_p.D1212E			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1317					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTAAAAAGGATGATGCTCTTG	0.478																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(3949-3951)GAT>GAA		A kinase (PRKA) anchor protein 12 isoform 1							105.0	104.0	104.0					6																	151673477		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673477T>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3951T>A	6.37:g.151673477T>A	ENSP00000253332:p.Asp1317Glu					AKAP12_uc003qoe.2_Missense_Mutation_p.D1317E|AKAP12_uc003qof.2_Missense_Mutation_p.D1219E|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.D1212E	p.D1317E	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	4191	+		Ovarian(120;0.125)	1317					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3951T>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	6.824	0.521151	0.13005	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.48	-5.17	0.02849	.	1.968600	0.02819	N	0.125306	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B;B;B	0.22003	0.063;0.063;0.038	B;B;B	0.21917	0.037;0.037;0.016	T	0.35748	-0.9776	10	0.02654	T	1	.	3.4338	0.07438	0.1159:0.1529:0.4692:0.262	.	1212;1219;1317	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	E	1317;1317;1219;1212	ENSP00000384537:D1317E;ENSP00000253332:D1317E;ENSP00000346702:D1219E;ENSP00000352794:D1212E	ENSP00000253332:D1317E	D	+	3	2	AKAP12	151715170	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-1.092000	0.03366	-1.050000	0.03230	0.455000	0.32223	GAT		0.478	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			23	77	0	0	0	0	23	77				
INTS1	26173	broad.mit.edu	37	7	1515969	1515969	+	Silent	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:1515969G>A	ENST00000404767.3	-	38	5359	c.5274C>T	c.(5272-5274)atC>atT	p.I1758I	INTS1_ENST00000389470.4_Silent_p.I1962I	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1758					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCCGGGCCTGGATGAGGCTGC	0.687																																						uc003skn.2		NA																	0					0						c.(5272-5274)ATC>ATT		integrator complex subunit 1							10.0	12.0	11.0					7																	1515969		2117	4211	6328	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1515969G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5274C>T	7.37:g.1515969G>A						INTS1_uc003skm.1_5'Flank	p.I1758I	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	38	5375	-		Ovarian(82;0.0253)	1758					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.5274C>T	CCDS47526.1																																																																																				0.687	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			4	6	0	0	0	0	4	6				
SFRP4	6424	broad.mit.edu	37	7	37953821	37953821	+	Missense_Mutation	SNP	T	T	C	rs112054297		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:37953821T>C	ENST00000436072.2	-	3	963	c.586A>G	c.(586-588)Agc>Ggc	p.S196G	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	196	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTACCATAGCTGTAGTTTTTG	0.398																																						uc003tfo.3		NA																	0				lung(1)	1						c.(586-588)AGC>GGC		secreted frizzled-related  protein 4 precursor							133.0	125.0	128.0					7																	37953821		2203	4300	6503	SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37953821T>C	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.586A>G	7.37:g.37953821T>C	ENSP00000410715:p.Ser196Gly						p.S196G	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			3	972	-			196			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	c.586A>G	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476101	0.84640	.	.	ENSG00000106483	ENST00000436072;ENST00000446575;ENST00000447200	T;T	0.30448	1.53;1.53	5.73	5.73	0.89815	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.045494	0.85682	D	0.000000	T	0.40743	0.1129	L	0.36672	1.1	0.47547	D	0.999459	P	0.50710	0.938	P	0.58013	0.831	T	0.06607	-1.0817	10	0.30078	T	0.28	.	15.2933	0.73882	0.0:0.0:0.0:1.0	.	196	Q6FHJ7	SFRP4_HUMAN	G	196;193;62	ENSP00000410715:S196G;ENSP00000402262:S62G	ENSP00000410715:S196G	S	-	1	0	SFRP4	37920346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.496000	0.81526	2.308000	0.77769	0.533000	0.62120	AGC		0.398	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		16	32	0	0	0	0	16	32				
ABCB4	5244	broad.mit.edu	37	7	87053332	87053332	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:87053332G>T	ENST00000265723.4	-	17	2212	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	ABCB4_ENST00000545634.1_Missense_Mutation_p.L701M|ABCB4_ENST00000358400.3_Missense_Mutation_p.L701M|ABCB4_ENST00000359206.3_Missense_Mutation_p.L701M|ABCB4_ENST00000453593.1_Missense_Mutation_p.L701M	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	701					cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTCAGTTTCAGGACCTTCAGA	0.453																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(2101-2103)CTG>ATG		ATP-binding cassette, subfamily B, member 4							172.0	163.0	166.0					7																	87053332		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87053332G>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2101C>A	7.37:g.87053332G>T	ENSP00000265723:p.Leu701Met					ABCB4_uc003uiw.1_Missense_Mutation_p.L701M|ABCB4_uc003uix.1_Missense_Mutation_p.L701M	p.L701M	NM_018849	NP_061337	P21439	MDR3_HUMAN			17	2177	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		701			Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2101C>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677004	0.29783	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	6.11	1.43	0.22495	ABC transporter, transmembrane domain, type 1 (1);	0.136348	0.49305	D	0.000144	T	0.76343	0.3974	L	0.54323	1.7	0.43347	D	0.995403	B;P;P	0.39576	0.241;0.679;0.55	B;B;B	0.42112	0.08;0.376;0.208	T	0.66164	-0.5992	10	0.33141	T	0.24	-10.2541	4.5334	0.12017	0.3951:0.0:0.3832:0.2217	.	701;701;701	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	M	701	ENSP00000352135:L701M;ENSP00000351172:L701M;ENSP00000265723:L701M;ENSP00000392983:L701M;ENSP00000437465:L701M	ENSP00000265723:L701M	L	-	1	2	ABCB4	86891268	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	1.580000	0.36547	-0.029000	0.13827	0.655000	0.94253	CTG		0.453	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		20	73	1	0	5.04e-11	1.03e-10	20	73				
ZNF804B	219578	broad.mit.edu	37	7	88966279	88966279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:88966279G>A	ENST00000333190.4	+	4	4592	c.3983G>A	c.(3982-3984)tGc>tAc	p.C1328Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1328							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCATTCTTGCTCTAGCCAG	0.393										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3982-3984)TGC>TAC		zinc finger protein 804B							89.0	90.0	90.0					7																	88966279		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966279G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3983G>A	7.37:g.88966279G>A	ENSP00000329638:p.Cys1328Tyr	HNSCC(36;0.09)					p.C1328Y	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4521	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1328					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3983G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323228	0.24080	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.2	-0.094	0.13646	.	0.339021	0.29616	N	0.011651	T	0.06554	0.0168	M	0.63428	1.95	0.30706	N	0.749821	B	0.12630	0.006	B	0.10450	0.005	T	0.10291	-1.0636	10	0.87932	D	0	0.1943	3.4231	0.07401	0.1893:0.111:0.5726:0.1271	.	1328	A4D1E1	Z804B_HUMAN	Y	1328	ENSP00000329638:C1328Y	ENSP00000329638:C1328Y	C	+	2	0	ZNF804B	88804215	0.895000	0.30542	0.994000	0.49952	0.910000	0.53928	0.858000	0.27845	-0.117000	0.11872	0.655000	0.94253	TGC		0.393	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		16	58	0	0	0	0	16	58				
CLDN12	9069	broad.mit.edu	37	7	90042423	90042423	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:90042423A>T	ENST00000287916.4	+	3	720	c.433A>T	c.(433-435)Act>Tct	p.T145S	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000394605.2_Missense_Mutation_p.T145S|CLDN12_ENST00000535571.1_Missense_Mutation_p.T145S	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	145					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CCTGGCAGGTACTGTGAGCCT	0.488																																						uc003ukp.2		NA																	0					0						c.(433-435)ACT>TCT		claudin 12							157.0	146.0	150.0					7																	90042423		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042423A>T	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.433A>T	7.37:g.90042423A>T	ENSP00000287916:p.Thr145Ser					CLDN12_uc003ukq.2_Missense_Mutation_p.T145S|CLDN12_uc010leq.2_Missense_Mutation_p.T145S|CLDN12_uc003ukr.2_Missense_Mutation_p.T145S|CLDN12_uc003uks.2_Missense_Mutation_p.T145S	p.T145S	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1069	+			145			Helical; (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.433A>T	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093907	0.36952	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	T;T;T;T;T;T	0.73363	-0.56;-0.74;-0.74;-0.74;-0.52;-0.74	5.45	4.3	0.51218	.	0.272379	0.42053	D	0.000771	T	0.53965	0.1829	N	0.14661	0.345	0.26312	N	0.977803	B	0.06786	0.001	B	0.04013	0.001	T	0.45220	-0.9276	10	0.56958	D	0.05	-9.0432	6.246	0.20818	0.8437:0.0:0.1563:0.0	.	145	P56749	CLD12_HUMAN	S	145	ENSP00000411399:T145S;ENSP00000419053:T145S;ENSP00000287916:T145S;ENSP00000443476:T145S;ENSP00000378102:T145S;ENSP00000378103:T145S	ENSP00000287916:T145S	T	+	1	0	CLDN12	89880359	0.996000	0.38824	0.999000	0.59377	0.856000	0.48823	4.954000	0.63631	2.289000	0.77006	0.533000	0.62120	ACT		0.488	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1	NM_012129		10	110	0	0	0	0	10	110				
AKAP9	10142	broad.mit.edu	37	7	91724387	91724387	+	Nonsense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:91724387T>G	ENST00000359028.2	+	40	9866	c.9641T>G	c.(9640-9642)tTa>tGa	p.L3214*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.L3210*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.L3160*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3214					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGACACATTAGCAAGTGAA	0.388			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(9628-9630)TTA>TGA		A-kinase anchor protein 9 isoform 2							89.0	91.0	91.0					7																	91724387		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91724387T>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9641T>G	7.37:g.91724387T>G	ENSP00000351922:p.Leu3214*					AKAP9_uc003ulf.2_Nonsense_Mutation_p.L3202*|AKAP9_uc003uli.2_Nonsense_Mutation_p.L2833*|AKAP9_uc003ulj.2_Nonsense_Mutation_p.L980*|AKAP9_uc003ull.2_Nonsense_Mutation_p.L106*	p.L3210*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		40	9854	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3214			Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.9629T>G		.	.	.	.	.	.	.	.	.	.	T	52	19.373783	0.99918	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.56	5.56	0.83823	.	0.000000	0.29956	N	0.010764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6715	0.77279	0.0:0.0:0.0:1.0	.	.	.	.	X	3210;3214;3160;3214;1056	.	ENSP00000348573:L3210X	L	+	2	0	AKAP9	91562323	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.110000	0.64622	2.243000	0.73865	0.472000	0.43445	TTA		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		4	45	0	0	0	0	4	45				
SGCE	8910	broad.mit.edu	37	7	94259126	94259126	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:94259126G>T	ENST00000265735.7	-	2	247	c.137C>A	c.(136-138)tCc>tAc	p.S46Y	SGCE_ENST00000415788.2_Missense_Mutation_p.S82Y|SGCE_ENST00000445866.2_Missense_Mutation_p.S46Y|SGCE_ENST00000428696.2_Missense_Mutation_p.S46Y|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000447873.1_Missense_Mutation_p.S46Y	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	46					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTCCGATCGGAGTGTACCTT	0.398																																						uc003unl.2		NA																	0				ovary(1)	1						c.(136-138)TCC>TAC		sarcoglycan, epsilon isoform 2							99.0	103.0	102.0					7																	94259126		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94259126G>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.137C>A	7.37:g.94259126G>T	ENSP00000265735:p.Ser46Tyr					SGCE_uc003unm.2_Missense_Mutation_p.S46Y|SGCE_uc003unn.2_Missense_Mutation_p.S46Y|SGCE_uc011kic.1_Intron|SGCE_uc011kid.1_Missense_Mutation_p.S82Y	p.S46Y	NM_003919	NP_003910	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	248	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		46			Extracellular (Potential).		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.137C>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040581	0.75732	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	5.51	5.51	0.81932	.	0.208574	0.51477	D	0.000098	D	0.97467	0.9171	L	0.29908	0.895	0.49051	D	0.999741	D;P;D;D	0.67145	0.996;0.924;0.98;0.989	D;P;P;P	0.66196	0.942;0.478;0.731;0.883	D	0.94373	0.7597	10	0.02654	T	1	-26.6339	19.7898	0.96452	0.0:0.0:1.0:0.0	.	82;46;46;46	B7Z2R4;E9PF60;G5E9K6;O43556	.;.;.;SGCE_HUMAN	Y	46;46;46;46;82	ENSP00000265735:S46Y;ENSP00000398930:S46Y;ENSP00000388734:S46Y;ENSP00000397536:S46Y;ENSP00000405313:S82Y	ENSP00000265735:S46Y	S	-	2	0	SGCE	94097062	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.564000	0.82326	2.754000	0.94517	0.655000	0.94253	TCC		0.398	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			10	81	1	0	0.000442599	0.00074528	10	81				
CYP3A4	1576	broad.mit.edu	37	7	99358513	99358513	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:99358513G>T	ENST00000336411.2	-	12	1528	c.1345C>A	c.(1345-1347)Ctc>Atc	p.L449I	CYP3A4_ENST00000354593.2_Missense_Mutation_p.L299I	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	449					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	ATGTTCATGAGAGCAAACCTC	0.383																																						uc003urv.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1345-1347)CTC>ATC		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						315.0	274.0	288.0					7																	99358513		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99358513G>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.1345C>A	7.37:g.99358513G>T	ENSP00000337915:p.Leu449Ile					CYP3A4_uc003urw.1_Missense_Mutation_p.L448I|CYP3A4_uc011kiz.1_Missense_Mutation_p.L408I|CYP3A4_uc011kja.1_Missense_Mutation_p.L400I|CYP3A4_uc011kjb.1_Missense_Mutation_p.L299I	p.L449I	NM_017460	NP_059488	P08684	CP3A4_HUMAN			12	1449	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		449					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.1345C>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303402	0.40795	.	.	ENSG00000160868	ENST00000354593;ENST00000336411	T;T	0.67698	-0.28;-0.28	4.47	3.55	0.40652	.	0.201250	0.43579	N	0.000547	T	0.70211	0.3198	M	0.62723	1.935	0.49299	D	0.999777	B;B;B;B;B	0.25312	0.022;0.029;0.123;0.123;0.123	P;B;B;B;B	0.45406	0.479;0.342;0.383;0.383;0.383	T	0.68161	-0.5482	10	0.51188	T	0.08	.	5.4512	0.16566	0.1094:0.0:0.6601:0.2306	.	299;376;449;449;449	E7EVM8;Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;.;CP3A4_HUMAN	I	299;449	ENSP00000346607:L299I;ENSP00000337915:L449I	ENSP00000337915:L449I	L	-	1	0	CYP3A4	99196449	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.611000	0.54132	0.926000	0.37118	0.563000	0.77884	CTC		0.383	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			36	85	1	0	6.06e-23	1.35e-22	36	85				
RELN	5649	broad.mit.edu	37	7	103270558	103270558	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:103270558G>C	ENST00000428762.1	-	20	2690	c.2531C>G	c.(2530-2532)cCg>cGg	p.P844R	RELN_ENST00000343529.5_Missense_Mutation_p.P844R|RELN_ENST00000424685.2_Missense_Mutation_p.P844R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	844					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAATGATACGGTTGCCACCA	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(2530-2532)CCG>CGG		reelin isoform a							118.0	119.0	119.0					7																	103270558		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103270558G>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2531C>G	7.37:g.103270558G>C	ENSP00000392423:p.Pro844Arg					RELN_uc010liz.2_Missense_Mutation_p.P844R	p.P844R	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	20	2691	-			844					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.2531C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.639095	0.87760	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.21543	2.0;2.0;2.12	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	L	0.61218	1.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.06303	-1.0834	10	0.38643	T	0.18	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	844;844	P78509-2;P78509	.;RELN_HUMAN	R	844	ENSP00000392423:P844R;ENSP00000345694:P844R;ENSP00000388446:P844R	ENSP00000345694:P844R	P	-	2	0	RELN	103057794	1.000000	0.71417	0.674000	0.29902	0.813000	0.45954	8.897000	0.92532	2.894000	0.99253	0.591000	0.81541	CCG		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		11	69	0	0	0	0	11	69				
AASS	10157	broad.mit.edu	37	7	121756934	121756934	+	Splice_Site	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:121756934T>A	ENST00000393376.1	-	6	860	c.765A>T	c.(763-765)ggA>ggT	p.G255G	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Splice_Site_p.G255G			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	255	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GTCCCTTACCTCCAGTTTGGG	0.328																																						uc003vka.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(763-765)GGA>GGT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						79.0	87.0	84.0					7																	121756934		2203	4300	6503	SO:0001630	splice_region_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121756934T>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.766+1A>T	7.37:g.121756934T>A						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.G255G|AASS_uc011knw.1_Intron	p.G255G	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			6	861	-			255			Lysine-ketoglutarate reductase.		O95462	Silent	SNP	ENST00000393376.1	37	c.765A>T	CCDS5783.1																																																																																				0.328	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763	Silent	31	70	0	0	0	0	31	70				
CADPS2	93664	broad.mit.edu	37	7	122221318	122221318	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:122221318G>T	ENST00000449022.2	-	7	1269	c.1250C>A	c.(1249-1251)aCc>aAc	p.T417N	CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000412584.2_Missense_Mutation_p.T417N|CADPS2_ENST00000313070.7_Missense_Mutation_p.T417N|CADPS2_ENST00000334010.7_Missense_Mutation_p.T417N	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	417	C2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGATGGGTGGTGGTGAAATC	0.443																																						uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1249-1251)ACC>AAC		Ca2+-dependent activator protein for secretion 2							110.0	102.0	104.0					7																	122221318		1836	4090	5926	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122221318G>T		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1250C>A	7.37:g.122221318G>T	ENSP00000398481:p.Thr417Asn					CADPS2_uc003vkg.3_Missense_Mutation_p.T117N|CADPS2_uc010lkq.2_Missense_Mutation_p.T417N	p.T417N	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			7	1413	-			417			C2.		A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1250C>A	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.2|23.2	4.391199|4.391199	0.82902|0.82902	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.70986	.|-0.53;-0.53;-0.53;-0.53	5.54|5.54	5.54|5.54	0.83059|0.83059	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85283|0.85283	0.5661|0.5661	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.89917	.|1.0;0.953;0.72	.|D;P;B	.|0.97110	.|1.0;0.556;0.346	D|D	0.86586|0.86586	0.1857|0.1857	5|10	.|0.87932	.|D	.|0	-12.8227|-12.8227	19.4921|19.4921	0.95054|0.95054	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|417;417;417	.|Q86UW7-2;Q86UW7;Q86UW7-3	.|.;CAPS2_HUMAN;.	Q|N	65|417;417;417;384;417;417	.|ENSP00000325581:T417N;ENSP00000333940:T417N;ENSP00000400401:T417N;ENSP00000398481:T417N	.|ENSP00000325581:T417N	H|T	-|-	3|2	2|0	CADPS2|CADPS2	122008554|122008554	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.998000|0.998000	0.95712|0.95712	7.696000|7.696000	0.84270|0.84270	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	CAC|ACC		0.443	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		16	101	1	0	3.41e-10	6.92e-10	16	101				
IQUB	154865	broad.mit.edu	37	7	123143292	123143292	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:123143292C>G	ENST00000466202.1	-	4	1234	c.658G>C	c.(658-660)Gat>Cat	p.D220H	IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000434450.1_Missense_Mutation_p.D220H|IQUB_ENST00000324698.6_Missense_Mutation_p.D220H	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	220					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGAGAGACATCAGTTAATCCA	0.358																																						uc003vkn.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(658-660)GAT>CAT		IQ motif and ubiquitin domain containing							150.0	149.0	149.0					7																	123143292		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123143292C>G	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.658G>C	7.37:g.123143292C>G	ENSP00000417769:p.Asp220His					IQUB_uc003vko.2_Missense_Mutation_p.D220H|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.D220H|IQUB_uc003vkq.2_Missense_Mutation_p.D220H	p.D220H	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			4	1235	-			220					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.658G>C	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	2.557	-0.302684	0.05495	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.45276	1.92;1.92;0.9	5.31	-3.16	0.05217	.	1.549420	0.03686	N	0.246363	T	0.36635	0.0974	L	0.54323	1.7	0.09310	N	1	B;B;B	0.18968	0.032;0.005;0.003	B;B;B	0.13407	0.008;0.009;0.002	T	0.28299	-1.0048	10	0.39692	T	0.17	.	7.1024	0.25344	0.0:0.2762:0.3784:0.3454	.	220;220;220	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	H	220	ENSP00000417769:D220H;ENSP00000324882:D220H;ENSP00000388498:D220H	ENSP00000324882:D220H	D	-	1	0	IQUB	122930528	0.042000	0.20092	0.000000	0.03702	0.026000	0.11368	0.132000	0.15891	-0.653000	0.05401	-0.793000	0.03317	GAT		0.358	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		25	84	0	0	0	0	25	84				
CNTNAP2	26047	broad.mit.edu	37	7	146829568	146829568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:146829568C>T	ENST00000361727.3	+	8	1831	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	439	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.Q439K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAACATCACACAGACCAAGAT	0.423										HNSCC(39;0.1)																												uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1315-1317)CAG>TAG		cell recognition molecule Caspr2 precursor							125.0	105.0	112.0					7																	146829568		2203	4300	6503	SO:0001587	stop_gained	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829568C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1315C>T	7.37:g.146829568C>T	ENSP00000354778:p.Gln439*	HNSCC(39;0.1)					p.Q439*	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1831	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	439			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Nonsense_Mutation	SNP	ENST00000361727.3	37	c.1315C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	42	9.655231	0.99230	.	.	ENSG00000174469	ENST00000361727	.	.	.	5.7	4.63	0.57726	.	0.320352	0.23230	N	0.050470	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1632	0.37035	0.1499:0.7631:0.0:0.087	.	.	.	.	X	439	.	ENSP00000354778:Q439X	Q	+	1	0	CNTNAP2	146460501	0.932000	0.31603	0.968000	0.41197	0.977000	0.68977	2.276000	0.43408	2.686000	0.91538	0.591000	0.81541	CAG		0.423	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			4	32	0	0	0	0	4	32				
CRYGN	155051	broad.mit.edu	37	7	151127188	151127188	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151127188C>G	ENST00000337323.2	-	4	621	c.495G>C	c.(493-495)gaG>gaC	p.E165D	CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000491928.1_3'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	165										central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGTGGTGGCCTCTTCCGGTC	0.532																																						uc003wke.2		NA																	0					0						c.(493-495)GAG>GAC		gammaN-crystallin							248.0	191.0	210.0					7																	151127188		2203	4300	6503	SO:0001583	missense	155051							g.chr7:151127188C>G	AF445455	CCDS5926.1	7q36.1	2003-02-25			ENSG00000127377	ENSG00000127377			20458	protein-coding gene	gene with protein product		609603					Standard	NM_144727		Approved		uc003wke.3	Q8WXF5	OTTHUMG00000157353	ENST00000337323.2:c.495G>C	7.37:g.151127188C>G	ENSP00000338613:p.Glu165Asp					CRYGN_uc003wkf.2_3'UTR|CRYGN_uc003wkg.2_RNA	p.E165D	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	591	-			165					Q496G6	Missense_Mutation	SNP	ENST00000337323.2	37	c.495G>C	CCDS5926.1	.	.	.	.	.	.	.	.	.	.	C	8.983	0.975748	0.18736	.	.	ENSG00000127377	ENST00000337323	T	0.79749	-1.3	1.51	-0.929	0.10444	.	0.766780	0.12413	N	0.471063	T	0.50326	0.1609	N	0.08118	0	0.09310	N	1	B	0.30439	0.279	B	0.20384	0.029	T	0.44711	-0.9310	10	0.07175	T	0.84	.	4.1228	0.10112	0.0:0.4309:0.0:0.5691	.	165	Q8WXF5	CRGN_HUMAN	D	165	ENSP00000338613:E165D	ENSP00000338613:E165D	E	-	3	2	CRYGN	150758121	0.020000	0.18652	0.001000	0.08648	0.008000	0.06430	-0.773000	0.04689	-0.273000	0.09246	0.205000	0.17691	GAG		0.532	CRYGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348553.1			18	63	0	0	0	0	18	63				
GALNT11	63917	broad.mit.edu	37	7	151797963	151797963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151797963C>T	ENST00000434507.1	+	5	813	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	GALNT11_ENST00000415421.1_Missense_Mutation_p.R126C|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000320311.2_Missense_Mutation_p.R126C|GALNT11_ENST00000452146.2_Missense_Mutation_p.R45C|GALNT11_ENST00000430044.2_Missense_Mutation_p.R126C|GALNT11_ENST00000482812.1_Intron			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	126					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TATCAGTGACCGCTTGGGCTA	0.408																																						uc010lqg.1		NA																	0					0						c.(376-378)CGC>TGC		N-acetylgalactosaminyltransferase 11							154.0	138.0	144.0					7																	151797963		2203	4300	6503	SO:0001583	missense	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151797963C>T	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.376C>T	7.37:g.151797963C>T	ENSP00000416787:p.Arg126Cys					GALNT11_uc011kvm.1_Missense_Mutation_p.R45C|GALNT11_uc003wku.2_Missense_Mutation_p.R126C|GALNT11_uc003wkv.1_Missense_Mutation_p.R126C|GALNT11_uc011kvn.1_Intron	p.R126C	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	3	606	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	126			Lumenal (Potential).		B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	ENST00000434507.1	37	c.376C>T	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313161	0.81358	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796	D;D;D;D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67;-2.67	5.06	5.06	0.68205	.	0.057892	0.64402	D	0.000002	D	0.95639	0.8582	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.68483	0.886;0.958;0.915	D	0.96198	0.9143	10	0.72032	D	0.01	.	13.4296	0.61046	0.1568:0.8432:0.0:0.0	.	45;126;126	B7Z5G5;Q8NCW6-2;Q8NCW6	.;.;GLT11_HUMAN	C	126;45;126;117;126;126;126;126;126	ENSP00000395122:R126C;ENSP00000393399:R45C;ENSP00000393892:R117C;ENSP00000416787:R126C;ENSP00000410093:R126C;ENSP00000315835:R126C;ENSP00000397581:R126C;ENSP00000412142:R126C	ENSP00000315835:R126C	R	+	1	0	GALNT11	151428896	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.245000	0.51407	2.334000	0.79466	0.655000	0.94253	CGC		0.408	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087		20	79	0	0	0	0	20	79				
KMT2C	58508	broad.mit.edu	37	7	151845956	151845956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr7:151845956C>T	ENST00000262189.6	-	52	13274	c.13056G>A	c.(13054-13056)tgG>tgA	p.W4352*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.W4409*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4352					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCATTCCTCTCCATTTTTTAT	0.433																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(13054-13056)TGG>TGA		myeloid/lymphoid or mixed-lineage leukemia 3							69.0	65.0	67.0					7																	151845956		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151845956C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13056G>A	7.37:g.151845956C>T	ENSP00000262189:p.Trp4352*					MLL3_uc003wkz.2_Nonsense_Mutation_p.W3470*|MLL3_uc003wkx.2_Nonsense_Mutation_p.W510*|MLL3_uc003wky.2_Nonsense_Mutation_p.W1916*	p.W4352*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	52	13275	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4352					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.13056G>A	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	55|55	24.394197|24.394197	0.99960|0.99960	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.42548	.|U	.|0.000693	T|.	0.47911|.	0.1471|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37596|.	-0.9699|.	4|.	.|0.02654	.|T	.|1	.|.	19.7589|19.7589	0.96306|0.96306	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	1913|4352;4409;969	.|.	.|ENSP00000262189:W4352X	E|W	-|-	1|3	0|0	MLL3|MLL3	151476889|151476889	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.726000|7.726000	0.84824|0.84824	2.670000|2.670000	0.90874|0.90874	0.650000|0.650000	0.86243|0.86243	GAG|TGG		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	41	0	0	0	0	11	41				
CSMD1	64478	broad.mit.edu	37	8	2823313	2823313	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:2823313G>T	ENST00000520002.1	-	60	9822	c.9267C>A	c.(9265-9267)agC>agA	p.S3089R	CSMD1_ENST00000537824.1_Missense_Mutation_p.S3088R|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3089R|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3089	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGACAGGTTTGCTCGGATTCC	0.413																																						uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(9265-9267)AGC>AGA		CUB and Sushi multiple domains 1 precursor							81.0	78.0	79.0					8																	2823313		1986	4180	6166	SO:0001583	missense	64478					integral to membrane		g.chr8:2823313G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9267C>A	8.37:g.2823313G>T	ENSP00000430733:p.Ser3089Arg					CSMD1_uc011kwj.1_Missense_Mutation_p.S2418R|CSMD1_uc010lrg.2_Intron	p.S3089R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	59	9657	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3089			Extracellular (Potential).|Sushi 24.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9267C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.273|9.273	1.046292|1.046292	0.19748|0.19748	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000520002;ENST00000318252;ENST00000537824	.|T;T	.|0.65732	.|-0.17;-0.17	5.42|5.42	4.43|4.43	0.53597|0.53597	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.133108	.|0.50627	.|D	.|0.000113	T|T	0.57695|0.57695	0.2071|0.2071	L|L	0.56199|0.56199	1.76|1.76	0.80722|0.80722	D|D	1|1	.|B;B	.|0.25048	.|0.117;0.043	.|B;B	.|0.37387	.|0.149;0.248	T|T	0.55566|0.55566	-0.8121|-0.8121	5|10	.|0.31617	.|T	.|0.26	.|.	6.2985|6.2985	0.21099|0.21099	0.2656:0.0:0.7344:0.0|0.2656:0.0:0.7344:0.0	.|.	.|3089;3089	.|E5RIG2;Q96PZ7	.|.;CSMD1_HUMAN	K|R	2506|3089;2950;3088	.|ENSP00000430733:S3089R;ENSP00000441462:S3088R	.|ENSP00000320445:S2950R	Q|S	-|-	1|3	0|2	CSMD1|CSMD1	2810720|2810720	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.034000|0.034000	0.12701|0.12701	1.885000|1.885000	0.39678|0.39678	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	CAA|AGC		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	10	1	0	0.000274275	0.00046424	7	10				
LZTS1	11178	broad.mit.edu	37	8	20107319	20107319	+	Missense_Mutation	SNP	G	G	A	rs376917114		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:20107319G>A	ENST00000381569.1	-	4	2062	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	LZTS1_ENST00000522290.1_Missense_Mutation_p.R510C|LZTS1_ENST00000265801.6_Missense_Mutation_p.R569C			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	569					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CTGTCCCCACGTGCCAGCTGC	0.617																																						uc003wzr.2		NA																	0				ovary(1)	1						c.(1705-1707)CGT>TGT		leucine zipper, putative tumor suppressor 1			CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	86.0	86.0		1705	4.3	0.7	8		86	0,8600		0,0,4300	no	missense	LZTS1	NM_021020.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	569/597	20107319	1,13005	2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107319G>A	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1705C>T	8.37:g.20107319G>A	ENSP00000370981:p.Arg569Cys					LZTS1_uc010ltg.1_Missense_Mutation_p.R510C	p.R569C	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1816	-			569					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1705C>T	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	g	9.979	1.227641	0.22542	2.27E-4	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.23552	2.23;2.23;1.9	5.28	4.32	0.51571	.	0.870962	0.10129	N	0.712350	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	P;P	0.46064	0.872;0.798	B;B	0.40101	0.319;0.165	T	0.04103	-1.0977	10	0.54805	T	0.06	-15.9618	9.4341	0.38628	0.0:0.2243:0.6325:0.1432	.	510;569	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	C	569;569;510;546	ENSP00000370981:R569C;ENSP00000265801:R569C;ENSP00000429263:R510C	ENSP00000265801:R569C	R	-	1	0	LZTS1	20151599	0.006000	0.16342	0.651000	0.29564	0.398000	0.30690	1.757000	0.38400	2.454000	0.82982	0.543000	0.68304	CGT		0.617	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		18	104	0	0	0	0	18	104				
TEX15	56154	broad.mit.edu	37	8	30703870	30703870	+	Missense_Mutation	SNP	T	T	C	rs368088067		TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:30703870T>C	ENST00000256246.2	-	1	2738	c.2664A>G	c.(2662-2664)atA>atG	p.I888M	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	888					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCCATCATCTATTGTTGTGA	0.328																																						uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(2662-2664)ATA>ATG		testis expressed 15							86.0	80.0	82.0					8																	30703870		2203	4299	6502	SO:0001583	missense	56154							g.chr8:30703870T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2664A>G	8.37:g.30703870T>C	ENSP00000256246:p.Ile888Met						p.I888M	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2664	-			888						Missense_Mutation	SNP	ENST00000256246.2	37	c.2664A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.522248	0.00967	.	.	ENSG00000133863	ENST00000256246	T	0.10382	2.88	5.59	-2.66	0.06077	.	1.118960	0.06653	N	0.763089	T	0.03477	0.0100	N	0.01874	-0.695	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.41305	-0.9516	10	0.87932	D	0	.	1.7399	0.02950	0.1512:0.3637:0.156:0.3291	.	888	Q9BXT5	TEX15_HUMAN	M	888	ENSP00000256246:I888M	ENSP00000256246:I888M	I	-	3	3	TEX15	30823412	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.002000	0.12924	-0.080000	0.12685	0.383000	0.25322	ATA		0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			15	53	0	0	0	0	15	53				
TACC1	6867	broad.mit.edu	37	8	38699961	38699961	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:38699961A>C	ENST00000317827.4	+	10	2496	c.2117A>C	c.(2116-2118)aAg>aCg	p.K706T	TACC1_ENST00000443286.2_Missense_Mutation_p.K693T|RP11-723D22.3_ENST00000459965.2_RNA|TACC1_ENST00000520611.1_Missense_Mutation_p.K143T|TACC1_ENST00000276520.8_Missense_Mutation_p.K296T|TACC1_ENST00000519416.1_Missense_Mutation_p.K510T|TACC1_ENST00000520973.1_Missense_Mutation_p.K482T|TACC1_ENST00000518415.1_Missense_Mutation_p.K632T|TACC1_ENST00000348567.4_Missense_Mutation_p.K268T|TACC1_ENST00000330691.6_Missense_Mutation_p.K280T|TACC1_ENST00000520615.1_Missense_Mutation_p.K511T|TACC1_ENST00000379931.3_Missense_Mutation_p.K718T	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	706	Interaction with CH-TOG.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			GAAGGGTTCAAGAAGGTAGAG	0.453																																						uc010lwp.2		NA																	0				ovary(1)	1						c.(2116-2118)AAG>ACG		transforming, acidic coiled-coil containing							109.0	111.0	110.0					8																	38699961		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38699961A>C	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.2117A>C	8.37:g.38699961A>C	ENSP00000321703:p.Lys706Thr					TACC1_uc003xma.2_Missense_Mutation_p.K144T|TACC1_uc003xlz.2_Missense_Mutation_p.K511T|TACC1_uc003xmc.3_Missense_Mutation_p.K510T|TACC1_uc011lbz.1_Missense_Mutation_p.K693T|TACC1_uc003xmb.3_Missense_Mutation_p.K632T|TACC1_uc003xmf.3_Missense_Mutation_p.K296T|TACC1_uc011lca.1_Missense_Mutation_p.K689T|TACC1_uc011lcb.1_Missense_Mutation_p.K482T|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_Missense_Mutation_p.K523T|TACC1_uc010lwq.2_Missense_Mutation_p.K522T	p.K706T	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		10	2496	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	706			|Interaction with CH-TOG.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.2117A>C	CCDS6109.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.680086	0.47886	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443286;ENST00000518415;ENST00000330691;ENST00000348567;ENST00000317827;ENST00000379931;ENST00000276520;ENST00000520973;ENST00000520611	T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.05	3.89	0.44902	.	0.060143	0.64402	N	0.000004	T	0.68760	0.3036	M	0.71871	2.18	0.58432	D	0.999994	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.997;1.0;0.999;1.0;0.999;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.973;0.999;0.997;0.987;0.986;0.996	T	0.70070	-0.4973	10	0.87932	D	0	-17.843	10.5281	0.44960	0.9237:0.0:0.0763:0.0	.	482;482;693;718;706;296;510;632	E7EVI4;B4DH49;B4E302;O75410-2;O75410;O75410-6;E7ET87;O75410-7	.;.;.;.;TACC1_HUMAN;.;.;.	T	510;511;693;632;280;268;706;718;296;482;143	ENSP00000428687:K510T;ENSP00000428450:K511T;ENSP00000393647:K693T;ENSP00000428706:K632T;ENSP00000332794:K280T;ENSP00000327818:K268T;ENSP00000321703:K706T;ENSP00000369263:K718T;ENSP00000276520:K296T;ENSP00000430959:K482T;ENSP00000429418:K143T	ENSP00000276520:K296T	K	+	2	0	TACC1	38819118	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	9.204000	0.95041	0.771000	0.33359	0.533000	0.62120	AAG		0.453	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		24	63	0	0	0	0	24	63				
KIAA1429	25962	broad.mit.edu	37	8	95500951	95500951	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:95500951G>A	ENST00000297591.5	-	24	5497	c.5422C>T	c.(5422-5424)Cgc>Tgc	p.R1808C	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1808					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAAGGAGCGTACATGACGA	0.438																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(5422-5424)CGC>TGC		hypothetical protein LOC25962 isoform 1							209.0	187.0	195.0					8																	95500951		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95500951G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.5422C>T	8.37:g.95500951G>A	ENSP00000297591:p.Arg1808Cys					KIAA1429_uc010maz.1_RNA	p.R1808C	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		24	5435	-	Breast(36;3.29e-05)		1808					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.5422C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810465	0.90707	.	.	ENSG00000164944	ENST00000297591	T	0.69040	-0.37	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.67097	0.2857	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	P	0.53401	0.725	T	0.71820	-0.4477	10	0.87932	D	0	-3.6386	19.5665	0.95395	0.0:0.0:1.0:0.0	.	1808	Q69YN4	VIR_HUMAN	C	1808	ENSP00000297591:R1808C	ENSP00000297591:R1808C	R	-	1	0	KIAA1429	95570127	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	7.775000	0.85489	2.699000	0.92147	0.655000	0.94253	CGC		0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		28	77	0	0	0	0	28	77				
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:113353910G>T	ENST00000297405.5	-	42	6692	c.6448C>A	c.(6448-6450)Cat>Aat	p.H2150N	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2110N|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2046N|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2080N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2150	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGGAGATGTACACCTGAA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6448-6450)CAT>AAT		CUB and Sushi multiple domains 3 isoform 1							53.0	52.0	52.0					8																	113353910		2202	4300	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113353910G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6448C>A	8.37:g.113353910G>T	ENSP00000297405:p.His2150Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H1352N|CSMD3_uc003ynt.2_Missense_Mutation_p.H2110N|CSMD3_uc011lhx.1_Missense_Mutation_p.H2046N	p.H2150N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			42	6607	-			2150			Extracellular (Potential).|CUB 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6448C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140432	0.77775	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	4.66	4.66	0.58398	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	L	0.53249	1.67	0.48975	D	0.999739	D;D;D	0.76494	0.997;0.99;0.999	D;D;D	0.87578	0.995;0.983;0.998	T	0.02588	-1.1137	10	0.21540	T	0.41	.	18.0944	0.89483	0.0:0.0:1.0:0.0	.	2046;2150;2110	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	2110;2150;1420;2046;2080	ENSP00000345799:H2110N;ENSP00000297405:H2150N;ENSP00000341558:H1420N;ENSP00000412263:H2046N;ENSP00000343124:H2080N	ENSP00000297405:H2150N	H	-	1	0	CSMD3	113423086	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.763000	0.85283	2.568000	0.86640	0.655000	0.94253	CAT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		20	14	1	0	5.04e-11	1.03e-10	20	14				
NDUFB9	4715	broad.mit.edu	37	8	125555397	125555397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:125555397G>A	ENST00000276689.3	+	2	255	c.171G>A	c.(169-171)atG>atA	p.M57I	NDUFB9_ENST00000518008.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000522532.1_Missense_Mutation_p.M57I|NDUFB9_ENST00000517367.1_Missense_Mutation_p.M46I	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	57					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.M57I(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAAAGGATATGGCGAAGGCCA	0.463																																						uc003yrg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(169-171)ATG>ATA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						97.0	89.0	91.0					8																	125555397		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555397G>A	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.171G>A	8.37:g.125555397G>A	ENSP00000276689:p.Met57Ile					NDUFB9_uc011lim.1_Missense_Mutation_p.M57I	p.M57I	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	256	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		57					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.171G>A	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252830	0.59212	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532;ENST00000517367	T;T;T;T	0.72167	-0.18;-0.18;-0.18;-0.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	L	0.56769	1.78	0.80722	D	1	B;B	0.29766	0.256;0.168	B;B	0.41374	0.355;0.143	T	0.68232	-0.5463	10	0.18710	T	0.47	-27.4329	19.3193	0.94231	0.0:0.0:1.0:0.0	.	57;57	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	I	57;57;57;46	ENSP00000276689:M57I;ENSP00000428282:M57I;ENSP00000431115:M57I;ENSP00000430322:M46I	ENSP00000276689:M57I	M	+	3	0	NDUFB9	125624578	1.000000	0.71417	0.997000	0.53966	0.425000	0.31504	7.515000	0.81761	2.559000	0.86315	0.655000	0.94253	ATG		0.463	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1	NM_005005		29	24	0	0	0	0	29	24				
SLC45A4	57210	broad.mit.edu	37	8	142231850	142231850	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:142231850A>G	ENST00000024061.3	-	2	410	c.103T>C	c.(103-105)Tac>Cac	p.Y35H	SLC45A4_ENST00000433583.2_Missense_Mutation_p.Y28H|SLC45A4_ENST00000517878.1_Missense_Mutation_p.Y86H|SLC45A4_ENST00000519067.1_Missense_Mutation_p.Y35H	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGCTGTAGTACTGCTCCGGA	0.662																																						uc003ywd.1		NA																	0				ovary(2)	2						c.(103-105)TAC>CAC		solute carrier family 45, member 4							89.0	72.0	78.0					8																	142231850		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142231850A>G	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.103T>C	8.37:g.142231850A>G	ENSP00000024061:p.Tyr35His					SLC45A4_uc003ywc.1_Missense_Mutation_p.Y35H|SLC45A4_uc010meq.1_Missense_Mutation_p.Y33H	p.Y35H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	411	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		86			Helical; (Potential).		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.103T>C	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410248	0.62399	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	L	0.39020	1.185	0.58432	D	0.999998	D;D;P	0.89917	0.998;1.0;0.503	D;D;B	0.87578	0.981;0.998;0.234	D	0.95430	0.8515	10	0.33940	T	0.23	-43.8615	15.5837	0.76465	1.0:0.0:0.0:0.0	.	86;35;35	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	H	35;86;28;35;17	ENSP00000429059:Y35H;ENSP00000428137:Y86H;ENSP00000400799:Y28H;ENSP00000024061:Y35H;ENSP00000429974:Y17H	ENSP00000024061:Y35H	Y	-	1	0	SLC45A4	142301032	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.090000	0.94144	2.089000	0.63090	0.334000	0.21626	TAC		0.662	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		37	28	0	0	0	0	37	28				
RHPN1	114822	broad.mit.edu	37	8	144459586	144459586	+	Silent	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144459586G>T	ENST00000289013.6	+	4	443	c.342G>T	c.(340-342)ctG>ctT	p.L114L		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	114	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CCCTGGGCCTGAAGGAGACCA	0.612																																						uc003yyb.2		NA																	0				large_intestine(1)	1						c.(340-342)CTG>CTT		rhophilin 1							75.0	81.0	79.0					8																	144459586		2029	4194	6223	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144459586G>T	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.342G>T	8.37:g.144459586G>T							p.L114L	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		4	475	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		114			BRO1.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.342G>T	CCDS47927.1																																																																																				0.612	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			21	20	1	0	0.000295444	0.000499422	21	20				
EPPK1	83481	broad.mit.edu	37	8	144940823	144940823	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr8:144940823A>G	ENST00000525985.1	-	2	6670	c.6599T>C	c.(6598-6600)cTg>cCg	p.L2200P				P58107	EPIPL_HUMAN	epiplakin 1	2200						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCGTTTCCAGGTCCTGGAG	0.592																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(6598-6600)CTG>CCG		epiplakin 1							196.0	204.0	201.0					8																	144940823		2034	4183	6217	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940823A>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6599T>C	8.37:g.144940823A>G	ENSP00000436337:p.Leu2200Pro						p.L2200P	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		1	6612	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2200					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6599T>C		.	.	.	.	.	.	.	.	.	.	A	18.99	3.740467	0.69304	.	.	ENSG00000227184	ENST00000525985	T	0.72394	-0.65	4.66	4.66	0.58398	.	.	.	.	.	D	0.83949	0.5365	M	0.83774	2.66	0.28648	N	0.906787	D	0.89917	1.0	D	0.85130	0.997	T	0.77629	-0.2516	9	0.46703	T	0.11	.	12.1078	0.53821	1.0:0.0:0.0:0.0	.	2200	E9PPU0	.	P	2200	ENSP00000436337:L2200P	ENSP00000436337:L2200P	L	-	2	0	EPPK1	145012811	0.043000	0.20138	0.012000	0.15200	0.004000	0.04260	3.385000	0.52485	1.957000	0.56846	0.477000	0.44152	CTG		0.592	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		5	291	0	0	0	0	5	291				
PRUNE2	158471	broad.mit.edu	37	9	79321004	79321004	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:79321004C>A	ENST00000376718.3	-	8	6309	c.6186G>T	c.(6184-6186)caG>caT	p.Q2062H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.Q1703H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2062					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAGGCCAGCTGCCCACCCT	0.522																																						uc010mpk.2		NA																	0					0						c.(6184-6186)CAG>CAT		prune homolog 2							118.0	112.0	114.0					9																	79321004		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321004C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6186G>T	9.37:g.79321004C>A	ENSP00000365908:p.Gln2062His					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.Q2062H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	6310	-			2062					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6186G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.20|11.20	1.570017|1.570017	0.28003|0.28003	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.54071	.|0.59;0.61	6.03|6.03	-8.18|-8.18	0.01053|0.01053	.|.	.|0.228496	.|0.31381	.|N	.|0.007758	T|T	0.36853|0.36853	0.0982|0.0982	M|M	0.64997|0.64997	1.995|1.995	0.28981|0.28981	N|N	0.888643|0.888643	.|B	.|0.18461	.|0.028	.|B	.|0.17433	.|0.018	T|T	0.16424|0.16424	-1.0403|-1.0403	5|10	.|0.87932	.|D	.|0	-8.141|-8.141	4.5887|4.5887	0.12295|0.12295	0.0777:0.3373:0.1552:0.4299|0.0777:0.3373:0.1552:0.4299	.|.	.|2062	.|Q8WUY3	.|PRUN2_HUMAN	S|H	1384|2062;1703;2061	.|ENSP00000365908:Q2062H;ENSP00000397425:Q1703H	.|ENSP00000365908:Q2062H	A|Q	-|-	1|3	0|2	PRUNE2|PRUNE2	78510824|78510824	0.000000|0.000000	0.05858|0.05858	0.772000|0.772000	0.31596|0.31596	0.633000|0.633000	0.38033|0.38033	-1.593000|-1.593000	0.02096|0.02096	-1.251000|-1.251000	0.02494|0.02494	-0.793000|-0.793000	0.03317|0.03317	GCT|CAG		0.522	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		38	114	1	0	2.04e-09	4.08e-09	38	114				
AKAP2	11217	broad.mit.edu	37	9	112899643	112899643	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:112899643G>C	ENST00000259318.7	+	2	1333	c.1126G>C	c.(1126-1128)Gtc>Ctc	p.V376L	AKAP2_ENST00000510514.5_Missense_Mutation_p.V607L|AKAP2_ENST00000434623.2_Missense_Mutation_p.V465L|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V607L|AKAP2_ENST00000374525.1_Missense_Mutation_p.V465L|AKAP2_ENST00000555236.1_Missense_Mutation_p.V607L|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.V607L	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	376										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						ACCACCTTCTGTCGGGGGACC	0.607																																						uc004bei.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(2515-2517)GTC>CTC		A kinase (PRKA) anchor protein 2 isoform 2							58.0	64.0	62.0					9																	112899643		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899643G>C	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1126G>C	9.37:g.112899643G>C	ENSP00000259318:p.Val376Leu					PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.V607L|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.V607L|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.V417L|AKAP2_uc011lwi.1_Missense_Mutation_p.V465L|AKAP2_uc004bem.2_Missense_Mutation_p.V465L|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.V425L|AKAP2_uc011lwj.1_Missense_Mutation_p.V376L|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.V376L	p.V839L	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			9	2707	+			376					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2515G>C	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393558	0.25205	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.46819	2.2;2.2;2.2;2.2;1.45;0.86;0.87;1.47	5.97	-6.7	0.01766	.	2.608710	0.01134	N	0.006045	T	0.31420	0.0796	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.001;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B	0.06405	0.0;0.002;0.001;0.002;0.001;0.002;0.002;0.001	T	0.08472	-1.0720	10	0.26408	T	0.33	-0.3855	3.715	0.08434	0.4293:0.1667:0.3194:0.0846	.	376;465;459;465;466;607;607;425	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	L	607;607;607;607;465;465;425;376	ENSP00000363654:V607L;ENSP00000305861:V607L;ENSP00000451476:V607L;ENSP00000421522:V607L;ENSP00000404782:V465L;ENSP00000363649:V465L;ENSP00000419268:V425L;ENSP00000259318:V376L	ENSP00000259318:V376L	V	+	1	0	PALM2-AKAP2;AKAP2	111939464	0.000000	0.05858	0.000000	0.03702	0.877000	0.50540	-1.763000	0.01802	-1.027000	0.03325	0.655000	0.94253	GTC		0.607	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		64	57	0	0	0	0	64	57				
BRINP1	1620	broad.mit.edu	37	9	121929752	121929752	+	Missense_Mutation	SNP	C	C	A	rs112348256	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr9:121929752C>A	ENST00000265922.3	-	8	2357	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	632					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CCTGGCCAGTCTCATTTCGCA	0.537																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1894-1896)GAG>GAT		deleted in bladder cancer 1 precursor							138.0	135.0	136.0					9																	121929752		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929752C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1896G>T	9.37:g.121929752C>A	ENSP00000265922:p.Glu632Asp						p.E632D	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2352	-			632					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1896G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	6.708	0.499333	0.12762	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.14893	2.47	5.3	4.39	0.52855	.	0.107765	0.64402	N	0.000004	T	0.09291	0.0229	N	0.04880	-0.145	0.43039	D	0.994627	B	0.02656	0.0	B	0.01281	0.0	T	0.15235	-1.0444	10	0.26408	T	0.33	-15.6088	14.696	0.69121	0.0:0.7245:0.2755:0.0	.	632	O60477	DBC1_HUMAN	D	632	ENSP00000265922:E632D	ENSP00000265922:E632D	E	-	3	2	DBC1	120969573	0.997000	0.39634	1.000000	0.80357	0.866000	0.49608	0.420000	0.21263	1.359000	0.45940	-0.176000	0.13171	GAG		0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		91	97	1	0	6.04e-29	1.35e-28	91	97				
MXRA5	25878	broad.mit.edu	37	X	3229299	3229299	+	Silent	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:3229299C>T	ENST00000217939.6	-	7	7099	c.6945G>A	c.(6943-6945)ggG>ggA	p.G2315G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2315	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCCCTCATCCCCACTTCGT	0.547																																						uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6943-6945)GGG>GGA		adlican precursor							174.0	142.0	153.0					X																	3229299		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229299C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6945G>A	X.37:g.3229299C>T							p.G2315G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	7102	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2315			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6945G>A	CCDS14124.1																																																																																				0.547	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		46	87	0	0	0	0	46	87				
FRMPD4	9758	broad.mit.edu	37	X	12734346	12734346	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12734346A>G	ENST00000380682.1	+	15	2274	c.1768A>G	c.(1768-1770)Aaa>Gaa	p.K590E		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	590					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CATGTGTCCAAAAGAGCACCG	0.507																																						uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(1768-1770)AAA>GAA		FERM and PDZ domain containing 4							121.0	108.0	112.0					X																	12734346		2203	4300	6503	SO:0001583	missense	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734346A>G	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.1768A>G	X.37:g.12734346A>G	ENSP00000370057:p.Lys590Glu					FRMPD4_uc011mij.1_Missense_Mutation_p.K582E	p.K590E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2274	+			590					A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	c.1768A>G	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.249724	0.59212	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.24908	1.83	5.47	5.47	0.80525	.	0.176669	0.50627	D	0.000112	T	0.29288	0.0729	M	0.68317	2.08	0.36985	D	0.894473	B;B	0.31581	0.329;0.329	B;B	0.30251	0.113;0.084	T	0.23332	-1.0191	10	0.33940	T	0.23	.	14.6288	0.68640	1.0:0.0:0.0:0.0	.	582;590	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	E	590;581;579	ENSP00000370057:K590E	ENSP00000304583:K579E	K	+	1	0	FRMPD4	12644267	1.000000	0.71417	0.962000	0.40283	0.884000	0.51177	4.690000	0.61731	1.835000	0.53391	0.430000	0.28490	AAA		0.507	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		30	67	0	0	0	0	30	67				
TLR8	51311	broad.mit.edu	37	X	12939289	12939289	+	Silent	SNP	T	T	C			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:12939289T>C	ENST00000218032.6	+	2	2217	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F	TLR8_ENST00000311912.5_Silent_p.F728F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	710					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TATCTGACTTTACATCTTCCC	0.428																																						uc004cve.2		NA																	0				ovary(4)|lung(2)|large_intestine(1)	7						c.(2128-2130)TTT>TTC		toll-like receptor 8 precursor							119.0	116.0	117.0					X																	12939289		2203	4300	6503	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939289T>C	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2130T>C	X.37:g.12939289T>C						TLR8_uc004cvd.2_Silent_p.F728F	p.F710F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2198	+			710			LRR 21.|Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2130T>C	CCDS14152.1																																																																																				0.428	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		40	98	0	0	0	0	40	98				
MAGEB6	158809	broad.mit.edu	37	X	26212351	26212351	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:26212351G>T	ENST00000379034.1	+	2	537	c.388G>T	c.(388-390)Ggc>Tgc	p.G130C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	130	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCTGCCAACGGCCAAGATGA	0.557																																						uc004dbr.2		NA																	0				ovary(3)	3						c.(388-390)GGC>TGC		melanoma antigen family B, 6							85.0	78.0	80.0					X																	26212351		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212351G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.388G>T	X.37:g.26212351G>T	ENSP00000368320:p.Gly130Cys					MAGEB6_uc010ngc.1_Intron	p.G130C	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			2	537	+			130			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.388G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673119	0.14776	.	.	ENSG00000176746	ENST00000379034	T	0.02280	4.36	0.787	-1.57	0.08506	.	.	.	.	.	T	0.01976	0.0062	N	0.24115	0.695	0.09310	N	1	D	0.71674	0.998	P	0.47346	0.544	T	0.39014	-0.9634	8	0.52906	T	0.07	.	.	.	.	.	130	Q8N7X4	MAGB6_HUMAN	C	130	ENSP00000368320:G130C	ENSP00000368320:G130C	G	+	1	0	MAGEB6	26122272	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.755000	0.01814	-1.203000	0.02652	0.179000	0.17066	GGC		0.557	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		36	51	1	0	3.04e-20	6.71e-20	36	51				
DCAF8L2	347442	broad.mit.edu	37	X	27766814	27766814	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:27766814C>G	ENST00000451261.2	+	5	2201	c.1802C>G	c.(1801-1803)gCt>gGt	p.A601G		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	601										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGTGGTGAAGCTGAATTTCCA	0.537																																						uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1801-1803)GCT>GGT		DDB1 and CUL4 associated factor 8-like 2							59.0	43.0	48.0					X																	27766814		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766814C>G		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1802C>G	X.37:g.27766814C>G	ENSP00000462745:p.Ala601Gly						p.A601G	NM_001136533	NP_001130005					1	1889	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1802C>G	CCDS59162.1																																																																																				0.537	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		5	11	0	0	0	0	5	11				
FAM47B	170062	broad.mit.edu	37	X	34960984	34960984	+	Silent	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:34960984C>A	ENST00000329357.5	+	1	72	c.36C>A	c.(34-36)tcC>tcA	p.S12S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	12										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGCCAAGGTCCCAAGGCATGG	0.632																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(34-36)TCC>TCA		hypothetical protein LOC170062							29.0	24.0	26.0					X																	34960984		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34960984C>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.36C>A	X.37:g.34960984C>A							p.S12S	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	54	+			12					Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.36C>A	CCDS14236.1																																																																																				0.632	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		7	15	1	0	0.000157383	0.000272033	7	15				
DGKK	139189	broad.mit.edu	37	X	50119165	50119165	+	RNA	SNP	C	C	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:50119165C>A	ENST00000376025.2	-	0	3331							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCATTAAGTCTGTAATAAAG	0.478																																						uc010njr.1		NA																	0				ovary(1)|kidney(1)	2						c.e25-1		diacylglycerol kinase kappa							59.0	56.0	57.0					X																	50119165		1977	4141	6118			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119165C>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119165C>A							p.K1091_splice	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			25	3333	-	Ovarian(276;0.236)							B2RP91	Splice_Site	SNP	ENST00000376025.2	37	c.3273_splice																																																																																					0.478	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		13	24	1	0	4.75e-09	9.4e-09	13	24				
ITM2A	9452	broad.mit.edu	37	X	78616913	78616913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:78616913G>A	ENST00000373298.2	-	5	759	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	ITM2A_ENST00000434584.2_Missense_Mutation_p.R162C|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	206	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTAACATCACGAATTTCCTCC	0.398																																						uc004edh.2		NA																	0				lung(2)	2						c.(616-618)CGT>TGT		integral membrane protein 2A							87.0	74.0	79.0					X																	78616913		2203	4299	6502	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78616913G>A	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.616C>T	X.37:g.78616913G>A	ENSP00000362395:p.Arg206Cys					ITM2A_uc011mqr.1_Missense_Mutation_p.R162C	p.R206C	NM_004867	NP_004858	O43736	ITM2A_HUMAN			5	951	-			206			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.616C>T	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548459	0.45383	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.79749	-1.3;-1.3	4.5	2.49	0.30216	BRICHOS (2);	0.267510	0.33938	N	0.004410	T	0.77103	0.4081	L	0.34521	1.04	0.09310	N	0.999999	D;D	0.61080	0.989;0.983	P;B	0.51453	0.67;0.417	T	0.70124	-0.4958	10	0.66056	D	0.02	-10.1792	11.8488	0.52399	0.0:0.6302:0.3698:0.0	.	162;206	B4E062;O43736	.;ITM2A_HUMAN	C	206;162	ENSP00000362395:R206C;ENSP00000415533:R162C	ENSP00000362395:R206C	R	-	1	0	ITM2A	78503569	0.985000	0.35326	0.699000	0.30290	0.910000	0.53928	2.889000	0.48601	0.795000	0.33922	0.513000	0.50165	CGT		0.398	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		22	41	0	0	0	0	22	41				
TGIF2LX	90316	broad.mit.edu	37	X	89177112	89177112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:89177112G>T	ENST00000561129.2	+	1	158	c.28G>T	c.(28-30)Gag>Tag	p.E10*	TGIF2LX_ENST00000283891.5_Nonsense_Mutation_p.E10*			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CGGCCCGGCTGAGACCCAAAG	0.522																																						uc004efe.2		NA																	0				ovary(1)|skin(1)	2						c.(28-30)GAG>TAG		TGFB-induced factor homeobox 2-like, X-linked							40.0	48.0	46.0					X																	89177112		2201	4300	6501	SO:0001587	stop_gained	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177112G>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.28G>T	X.37:g.89177112G>T	ENSP00000453704:p.Glu10*						p.E10*	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	77	+			10					Q5JRM9|Q8TD48	Nonsense_Mutation	SNP	ENST00000561129.2	37	c.28G>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256945	0.39896	.	.	ENSG00000153779	ENST00000283891	.	.	.	1.24	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3288	0.15920	0.0:0.0:1.0:0.0	.	.	.	.	X	10	.	.	E	+	1	0	TGIF2LX	89063768	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.375000	0.20518	0.871000	0.35750	0.513000	0.50165	GAG		0.522	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		26	47	1	0	4.88e-14	1.02e-13	26	47				
DOCK11	139818	broad.mit.edu	37	X	117817178	117817178	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:117817178C>T	ENST00000276202.7	+	52	6163	c.6100C>T	c.(6100-6102)Cag>Tag	p.Q2034*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.Q2034*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2034	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATCCATGAGCAGGCAAGTAT	0.358																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(6100-6102)CAG>TAG		dedicator of cytokinesis 11							81.0	76.0	78.0					X																	117817178		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117817178C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6100C>T	X.37:g.117817178C>T	ENSP00000276202:p.Gln2034*					DOCK11_uc004eqq.2_Nonsense_Mutation_p.Q1813*	p.Q2034*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			52	6163	+			2034					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.6100C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	C	47	13.281457	0.99732	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-12.4762	17.9095	0.88929	0.0:1.0:0.0:0.0	.	.	.	.	X	2034	.	ENSP00000276202:Q2034X	Q	+	1	0	DOCK11	117701206	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.412000	0.80091	2.449000	0.82847	0.600000	0.82982	CAG		0.358	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		29	43	0	0	0	0	29	43				
CUL4B	8450	broad.mit.edu	37	X	119677600	119677600	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:119677600T>G	ENST00000404115.3	-	10	1693	c.1292A>C	c.(1291-1293)tAc>tCc	p.Y431S	CUL4B_ENST00000336592.6_Missense_Mutation_p.Y418S|CUL4B_ENST00000371322.5_Missense_Mutation_p.Y413S|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCTAAGTAAGTAATAAG	0.348																																						uc004esw.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1291-1293)TAC>TCC		cullin 4B isoform 1							255.0	248.0	250.0					X																	119677600		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119677600T>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1292A>C	X.37:g.119677600T>G	ENSP00000384109:p.Tyr431Ser					CUL4B_uc010nqq.2_Missense_Mutation_p.Y130S|CUL4B_uc004esv.2_Missense_Mutation_p.Y413S	p.Y431S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			10	1729	-			431					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1292A>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672570	0.67928	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	D;D;D	0.83335	-1.71;-1.71;-1.71	6.03	4.88	0.63580	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.105044	0.64402	D	0.000002	D	0.91758	0.7393	M	0.92649	3.33	0.80722	D	1	D;D;D	0.69078	0.982;0.997;0.997	D;D;D	0.66602	0.91;0.945;0.909	D	0.91986	0.5599	9	.	.	.	-6.9641	10.2306	0.43253	0.0:0.0772:0.0:0.9228	.	235;431;413	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	S	413;418;431	ENSP00000360373:Y413S;ENSP00000338919:Y418S;ENSP00000384109:Y431S	.	Y	-	2	0	CUL4B	119561628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.948000	0.87774	0.895000	0.36342	0.486000	0.48141	TAC		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		24	42	0	0	0	0	24	42				
FRMD7	90167	broad.mit.edu	37	X	131212467	131212468	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:131212467_131212468AG>GT	ENST00000298542.4	-	12	1752_1753	c.1577_1578CT>AC	c.(1576-1578)aCT>aAC	p.T526N	FRMD7_ENST00000464296.1_Missense_Mutation_p.T511N|FRMD7_ENST00000370879.1_Missense_Mutation_p.T406N	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	526					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTTCATTGCAGTGGGCTCTAC	0.495																																						uc004ewn.2		NA																	0				skin(1)	1						c.(1576-1578)ACT>AAC		FERM domain containing 7																																				SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212467_131212468AG>GT	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1577_1578delinsGT	X.37:g.131212467_131212468delinsGT	ENSP00000298542:p.Thr526Asn					FRMD7_uc011muy.1_Missense_Mutation_p.T511N	p.T526N	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1755_1756	-	Acute lymphoblastic leukemia(192;0.000127)		526					C0LLJ3|Q5JX99	Missense_Mutation	DNP	ENST00000298542.4	37	c.1577_1578CT>AC	CCDS35397.1																																																																																				0.495	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277		68	129	0	0	0	0	68	129				
MAGEC1	9947	broad.mit.edu	37	X	140995218	140995219	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:140995218_140995219CC>AA	ENST00000285879.4	+	4	2314_2315	c.2028_2029CC>AA	c.(2026-2031)ctCCag>ctAAag	p.Q677K	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	677										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCCTCTCCAGAGTCCTGA	0.564										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2026-2031)CTCCAG>CTAAAG		melanoma antigen family C, 1																																				SO:0001583	missense	9947						protein binding	g.chrX:140995218_140995219CC>AA	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	Exception_encountered	X.37:g.140995218_140995219delinsAA	ENSP00000285879:p.Gln677Lys	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.Q677K	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2314_2315	+	Acute lymphoblastic leukemia(192;6.56e-05)		677					A0PK03|O75451|Q8TCV4	Missense_Mutation	DNP	ENST00000285879.4	37	c.2028_2029CC>AA	CCDS35417.1																																																																																				0.564	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		51	98	0	0	0	0	51	98				
TKTL1	8277	broad.mit.edu	37	X	153533683	153533683	+	Silent	SNP	T	T	A			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chrX:153533683T>A	ENST00000369915.3	+	2	351	c.162T>A	c.(160-162)tcT>tcA	p.S54S	TKTL1_ENST00000369912.2_5'UTR|TKTL1_ENST00000217905.7_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	54					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTTCTTCTGAGATCATGT	0.498																																						uc004fkg.2		NA																	0				ovary(3)|skin(1)	4						c.(160-162)TCT>TCA		transketolase-like 1 isoform a							256.0	152.0	188.0					X																	153533683		2203	4300	6503	SO:0001819	synonymous_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153533683T>A	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.162T>A	X.37:g.153533683T>A						TKTL1_uc011mzl.1_Silent_p.S48S|TKTL1_uc011mzm.1_Silent_p.S54S|TKTL1_uc004fkh.2_5'UTR	p.S54S	NM_012253	NP_036385	P51854	TKTL1_HUMAN			2	348	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		54					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	ENST00000369915.3	37	c.162T>A	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	T	5.513	0.279601	0.10458	.	.	ENSG00000007350	ENST00000426203	.	.	.	5.17	-0.816	0.10839	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-9.3767	1.6367	0.02743	0.1346:0.2684:0.1342:0.4628	.	.	.	.	R	37	.	.	X	+	1	0	TKTL1	153186877	0.022000	0.18835	0.898000	0.35279	0.397000	0.30659	-1.010000	0.03656	-0.116000	0.11893	-0.183000	0.12914	TGA		0.498	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		21	43	0	0	0	0	21	43				
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483																																						uc001lyy.1		NA																	0				ovary(3)|lung(1)	4						c.(559-561)AACfs		tripartite motif protein 21							211.0	212.0	212.0					11																	4409705		1950	4174	6124	SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409705delT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.560delA	11.37:g.4409705delT	ENSP00000254436:p.Asn187fs						p.N187fs	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	673	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187			Potential.		Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	ENST00000254436.7	37	c.560delA	CCDS44525.1																																																																																				0.483	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		9	431	NA	NA	NA	NA	9	431	---	---	---	---
DPF2	5977	broad.mit.edu	37	11	65113793	65113793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:65113793delG	ENST00000528416.1	+	9	1113	c.980delG	c.(979-981)tgcfs	p.C327fs	DPF2_ENST00000252268.4_Frame_Shift_Del_p.C341fs|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	327					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCATCGAGTGCAAATGTTGC	0.552																																						uc001odm.2		NA																	0				ovary(1)	1						c.(979-981)TGCfs		D4, zinc and double PHD fingers family 2							157.0	117.0	130.0					11																	65113793		2201	4297	6498	SO:0001589	frameshift_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65113793delG	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.980delG	11.37:g.65113793delG	ENSP00000436901:p.Cys327fs					DPF2_uc001odn.2_Frame_Shift_Del_p.C341fs|DPF2_uc010roe.1_Intron	p.C327fs	NM_006268	NP_006259	Q92785	REQU_HUMAN			9	992	+			327			PHD-type 1.|PHD-type 2.		A8K7C9|B4DT58	Frame_Shift_Del	DEL	ENST00000528416.1	37	c.980delG	CCDS8100.1																																																																																				0.552	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		12	40	NA	NA	NA	NA	12	40	---	---	---	---
MPZL3	196264	broad.mit.edu	37	11	118122936	118122937	+	Splice_Site	DEL	CC	CC	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr11:118122936_118122937delCC	ENST00000278949.4	-	1	128_129	c.73_74delGG	c.(73-75)ggt>t	p.G25fs	MPZL3_ENST00000527472.1_Splice_Site_p.G25fs|MPZL3_ENST00000525386.1_Splice_Site_p.G25fs			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	25					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAGCACTCACCCTGGAAGAAC	0.644																																						uc001psm.2		NA																	0					0						c.e1+1		myelin protein zero-like 3 precursor																																				SO:0001630	splice_region_variant	196264				cell adhesion	integral to membrane		g.chr11:118122936_118122937delCC	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.73+1GG>-	11.37:g.118122936_118122937delCC						MPZL3_uc010rxy.1_Splice_Site_p.D25_splice|MPZL3_uc010rxz.1_Splice_Site|MPZL3_uc009yzy.2_Splice_Site	p.G25_splice	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	1	75	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)						A8K025|B4DLD5|B4E2I8	Splice_Site	DEL	ENST00000278949.4	37	c.73_splice	CCDS8392.1																																																																																				0.644	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275	Frame_Shift_Del	20	138	NA	NA	NA	NA	20	138	---	---	---	---
RARA	5914	broad.mit.edu	37	17	38508182	38508184	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:38508182_38508184delAAG	ENST00000254066.5	+	5	945_947	c.490_492delAAG	c.(490-492)aagdel	p.K167del	RARA_ENST00000394081.3_In_Frame_Del_p.K162del|RARA_ENST00000394086.3_In_Frame_Del_p.K183del|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_In_Frame_Del_p.K167del|RARA_ENST00000425707.3_In_Frame_Del_p.K70del	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	167	Hinge.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CGACCGAAACAAGAAGAAGAAGG	0.616			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1		NA		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		0				ovary(1)|lung(1)|breast(1)	3						c.(490-492)AAGdel		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)																																			SO:0001651	inframe_deletion	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38508182_38508184delAAG	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.490_492delAAG	17.37:g.38508191_38508193delAAG	ENSP00000254066:p.Lys167del					RARA_uc002hul.3_In_Frame_Del_p.K167del|RARA_uc010wfe.1_In_Frame_Del_p.K70del|RARA_uc002hun.1_In_Frame_Del_p.K162del	p.K167del	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		5	945_947	+		Breast(137;0.00328)	167			Hinge.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	In_Frame_Del	DEL	ENST00000254066.5	37	c.490_492delAAG	CCDS11366.1																																																																																				0.616	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			8	18	NA	NA	NA	NA	8	18	---	---	---	---
SPPL2C	162540	broad.mit.edu	37	17	43922897	43922897	+	Frame_Shift_Del	DEL	G	G	-	rs929223	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr17:43922897delG	ENST00000329196.5	+	1	642	c.625delG	c.(625-627)gaafs	p.E209fs	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	209						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CGGCCTGACCGAAGCCAACCG	0.647																																						uc010wka.1		NA																	0				pancreas(2)	2						c.(625-627)GAAfs		intramembrane protease 5 precursor							51.0	45.0	47.0					17																	43922897		2203	4299	6502	SO:0001589	frameshift_variant	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43922897delG		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.625delG	17.37:g.43922897delG	ENSP00000332488:p.Glu209fs					LOC100128977_uc010wjz.1_Intron	p.E209fs	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	1	625	+	Colorectal(2;0.0416)		209			Cytoplasmic (Potential).		Q8TC67|Q8WVZ6	Frame_Shift_Del	DEL	ENST00000329196.5	37	c.625delG	CCDS32673.1																																																																																				0.647	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		35	65	NA	NA	NA	NA	35	65	---	---	---	---
ABCA7	10347	broad.mit.edu	37	19	1058907	1058912	+	In_Frame_Del	DEL	GGGGAT	GGGGAT	-	rs550919452|rs571805445	byFrequency	TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:1058907_1058912delGGGGAT	ENST00000263094.6	+	39	5599_5604	c.5368_5373delGGGGAT	c.(5368-5373)ggggatdel	p.GD1790del	ABCA7_ENST00000435683.2_In_Frame_Del_p.GD1652del|ABCA7_ENST00000433129.1_In_Frame_Del_p.GD1790del	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1790					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCACCCAGGGGGATGTGTTGGTGC	0.626																																						uc002lqw.3		NA																	0				pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(5368-5373)GGGGATdel		ATP-binding cassette, sub-family A, member 7																																				SO:0001651	inframe_deletion	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1058907_1058912delGGGGAT	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.5368_5373delGGGGAT	19.37:g.1058907_1058912delGGGGAT	ENSP00000263094:p.Gly1790_Asp1791del					ABCA7_uc002lqy.2_In_Frame_Del_p.GD243del|ABCA7_uc010dsc.2_RNA	p.GD1790del	NM_019112	NP_061985	Q8IZY2	ABCA7_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)	39	5599_5604	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1790_1791					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	In_Frame_Del	DEL	ENST00000263094.6	37	c.5368_5373delGGGGAT	CCDS12055.1																																																																																				0.626	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		10	56	NA	NA	NA	NA	10	56	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5787365	5787365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:5787365delC	ENST00000309061.7	-	7	1316	c.1220delG	c.(1219-1221)ggcfs	p.G407fs	DUS3L_ENST00000320699.8_Frame_Shift_Del_p.G165fs|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000590681.1_5'Flank|PRR22_ENST00000419421.2_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	407							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGCACAGCCCCCACCCTG	0.662																																						uc002mdc.2		NA																	0					0						c.(1219-1221)GGCfs		dihydrouridine synthase 3-like isoform 1							56.0	65.0	62.0					19																	5787365		2203	4300	6503	SO:0001589	frameshift_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5787365delC		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1220delG	19.37:g.5787365delC	ENSP00000311977:p.Gly407fs					PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Frame_Shift_Del_p.G165fs|DUS3L_uc010duk.2_Frame_Shift_Del_p.G72fs	p.G407fs	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			7	1317	-			407					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Frame_Shift_Del	DEL	ENST00000309061.7	37	c.1220delG	CCDS32880.1																																																																																				0.662	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		17	52	NA	NA	NA	NA	17	52	---	---	---	---
CRLF1	9244	broad.mit.edu	37	19	18707506	18707506	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:18707506delC	ENST00000392386.3	-	6	1143	c.950delG	c.(949-951)ggcfs	p.G317fs	CRLF1_ENST00000594325.1_5'Flank	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	317	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCATAGATGCCAAAGGGGTT	0.642																																						uc010ebt.1		NA																	0				central_nervous_system(1)	1						c.(949-951)GGCfs		cytokine receptor-like factor 1 precursor							36.0	39.0	38.0					19																	18707506		2203	4300	6503	SO:0001589	frameshift_variant	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18707506delC	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.950delG	19.37:g.18707506delC	ENSP00000376188:p.Gly317fs						p.G317fs	NM_004750	NP_004741	O75462	CRLF1_HUMAN			6	1144	-			317			Fibronectin type-III 2.		Q9UHH5	Frame_Shift_Del	DEL	ENST00000392386.3	37	c.950delG	CCDS32962.1																																																																																				0.642	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			7	27	NA	NA	NA	NA	7	27	---	---	---	---
ZNF253	56242	broad.mit.edu	37	19	20002921	20002922	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr19:20002921_20002922delTG	ENST00000589717.1	+	4	957_958	c.865_866delTG	c.(865-867)tgtfs	p.C289fs	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Frame_Shift_Del_p.C213fs	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	289				Missing (in Ref. 1; AAC26844). {ECO:0000305}.|Missing (in Ref. 2; BAC11185). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGTGAAGAATGTGGCAAAGCC	0.411																																						uc002noj.2		NA																	0					0						c.(865-867)TGTfs		zinc finger protein 253																																				SO:0001589	frameshift_variant	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002921_20002922delTG	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.865_866delTG	19.37:g.20002923_20002924delTG	ENSP00000468720:p.Cys289fs					ZNF253_uc002nok.2_Frame_Shift_Del_p.C213fs|ZNF253_uc002nol.2_RNA	p.C289fs	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	957_958	+			289	Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).		C2H2-type 5.		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Frame_Shift_Del	DEL	ENST00000589717.1	37	c.865_866delTG	CCDS42532.1																																																																																				0.411	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		19	50	NA	NA	NA	NA	19	50	---	---	---	---
FRZB	2487	broad.mit.edu	37	2	183723523	183723523	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr2:183723523delC	ENST00000295113.4	-	2	1126	c.517delG	c.(517-519)gcafs	p.A173fs		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	173					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A173S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CCACTGCTTGCCCCTCTACAG	0.348																																						uc002upa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(517-519)GCAfs		frizzled-related protein precursor							120.0	124.0	123.0					2																	183723523		2203	4299	6502	SO:0001589	frameshift_variant	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183723523delC	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.517delG	2.37:g.183723523delC	ENSP00000295113:p.Ala173fs						p.A173fs	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		2	735	-			173					O00181|Q99686	Frame_Shift_Del	DEL	ENST00000295113.4	37	c.517delG	CCDS2286.1																																																																																				0.348	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		32	120	NA	NA	NA	NA	32	120	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113351810	113351811	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr4:113351810_113351811insG	ENST00000458497.1	+	11	1386_1387	c.1107_1108insG	c.(1108-1110)gggfs	p.G370fs	ALPK1_ENST00000504176.2_Frame_Shift_Ins_p.G292fs|ALPK1_ENST00000177648.9_Frame_Shift_Ins_p.G370fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	370							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GAAGGCTCCATGGGGAGACAGG	0.515																																						uc003iap.3		NA																	0				ovary(5)	5						c.(1105-1110)CATGGGfs		alpha-kinase 1																																				SO:0001589	frameshift_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113351810_113351811insG	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1111dupG	4.37:g.113351814_113351814dupG	ENSP00000398048:p.Gly370fs					ALPK1_uc003ian.3_Frame_Shift_Ins_p.H369fs|ALPK1_uc011cfx.1_Frame_Shift_Ins_p.H291fs|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Frame_Shift_Ins_p.H197fs	p.H369fs	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1386_1387	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	369_370					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Frame_Shift_Ins	INS	ENST00000458497.1	37	c.1107_1108insG	CCDS3697.1																																																																																				0.515	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		21	57	NA	NA	NA	NA	21	57	---	---	---	---
TMEM170B	100113407	broad.mit.edu	37	6	11565999	11565999	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7242-01A-11D-2012-08	TCGA-CV-7242-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9e07a1bc-f7c7-4cb4-b3b1-92162a79de0e	b097d6fa-5fbe-46ca-867e-17d5cb86e299	g.chr6:11565999delG	ENST00000379426.1	+	2	198	c.198delG	c.(196-198)cagfs	p.Q66fs	TMEM170B_ENST00000543875.1_Frame_Shift_Del_p.Q66fs	NM_001100829.1	NP_001094299.1	Q5T4T1	T170B_HUMAN	transmembrane protein 170B	66						integral component of membrane (GO:0016021)				large_intestine(3)|lung(5)	8						GGCATAGGCAGGGAAGAGTCA	0.463																																						uc010jpa.2		NA																	0					0						c.(196-198)CAGfs		transmembrane protein 170B							257.0	250.0	252.0					6																	11565999		2036	4202	6238	SO:0001589	frameshift_variant	100113407					integral to membrane		g.chr6:11565999delG		CCDS43425.1	6p24.1	2008-08-08			ENSG00000205269	ENSG00000205269			34244	protein-coding gene	gene with protein product							Standard	NM_001100829		Approved		uc010jpa.4	Q5T4T1	OTTHUMG00000014259	ENST00000379426.1:c.198delG	6.37:g.11565999delG	ENSP00000368737:p.Gln66fs						p.Q66fs	NM_001100829	NP_001094299	Q5T4T1	T170B_HUMAN			2	198	+			66			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000379426.1	37	c.198delG	CCDS43425.1																																																																																				0.463	TMEM170B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000039862.1	NM_001100829		33	157	NA	NA	NA	NA	33	157	---	---	---	---
