#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TTLL10	254173	broad.mit.edu	37	1	1115671	1115671	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:1115671A>T	ENST00000379290.1	+	6	630	c.457A>T	c.(457-459)Acc>Tcc	p.T153S	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.T153S|TTLL10_ENST00000379288.3_Missense_Mutation_p.T80S			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	153					cellular protein modification process (GO:0006464)			p.T80S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCCCACAGCACCCGGCCGGG	0.697																																							uc001acy.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(457-459)ACC>TCC		tubulin tyrosine ligase-like family, member 10							6.0	9.0	8.0					1																	1115671		2142	4216	6358	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1115671A>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.457A>T	1.37:g.1115671A>T	ENSP00000368592:p.Thr153Ser					uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.T153S|TTLL10_uc001acz.1_Missense_Mutation_p.T80S	p.T153S	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	608	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	153					B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.457A>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	A	3.552	-0.091571	0.07053	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.41065	1.01;1.01;1.01	3.94	-5.85	0.02311	.	46.160100	0.00166	N	0.000001	T	0.19967	0.0480	N	0.22421	0.69	0.09310	N	1	B;B	0.26744	0.008;0.158	B;B	0.17433	0.013;0.018	T	0.12993	-1.0526	10	0.09084	T	0.74	.	1.5146	0.02503	0.2425:0.3047:0.3121:0.1407	.	80;153	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	S	153;153;80	ENSP00000368592:T153S;ENSP00000368591:T153S;ENSP00000368590:T80S	ENSP00000368590:T80S	T	+	1	0	TTLL10	1105534	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.788000	0.04614	-1.260000	0.02465	-0.474000	0.04947	ACC		0.697	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		3	7	0	0	0	0.004672	0	3	7				
CFAP74	85452	broad.mit.edu	37	1	1905589	1905589	+	IGR	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:1905589G>T								TMEM52 (54877 upstream) : C1orf222 (13973 downstream)														p.F183L(1)									CAGCTGTCCGGAAGGCCTCGA	0.667																																							uc001aim.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(547-549)TTC>TTA		hypothetical protein LOC85452							41.0	47.0	45.0					1																	1905589		2139	4256	6395	SO:0001628	intergenic_variant	85452							g.chr1:1905589G>T																													1.37:g.1905589G>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.F183L	p.F183L	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	7	705	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	183						Missense_Mutation	SNP		37	c.549C>A		.	.	.	.	.	.	.	.	.	.	G	0.709	-0.787948	0.02884	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.46	2.41	0.29592	.	1.122700	0.06971	N	0.818035	T	0.13543	0.0328	N	0.02247	-0.625	0.09310	N	0.999999	B;B	0.11235	0.004;0.0	B;B	0.09377	0.004;0.001	T	0.22208	-1.0223	9	0.06891	T	0.86	-3.5634	7.1945	0.25845	0.0:0.0:0.7346:0.2654	.	183;183	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	L	183	.	ENSP00000270720:F183L	F	-	3	2	C1orf222	1895449	0.000000	0.05858	0.003000	0.11579	0.012000	0.07955	-0.110000	0.10824	1.886000	0.54624	0.467000	0.42956	TTC	0	0.667									8	45	1	0	0.000157383	0.00308	0.000204987	8	45				
PRAMEF2	65122	broad.mit.edu	37	1	12918992	12918992	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:12918992C>A	ENST00000240189.2	+	2	215	c.128C>A	c.(127-129)gCc>gAc	p.A43D		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	43					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)			p.A43D(1)		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)		TTCAGGGAGGCCTTCAGCAGG	0.607																																							uc001aum.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GCC>GAC		PRAME family member 2							119.0	125.0	123.0					1																	12918992		2201	4296	6497	SO:0001583	missense	65122							g.chr1:12918992C>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.128C>A	1.37:g.12918992C>A	ENSP00000240189:p.Ala43Asp						p.A43D	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)	2	215	+	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)	43						Missense_Mutation	SNP	ENST00000240189.2	37	c.128C>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	c	11.85	1.761871	0.31228	.	.	ENSG00000120952	ENST00000240189	T	0.12984	2.63	0.842	0.842	0.18927	.	0.068551	0.56097	D	0.000034	T	0.40347	0.1113	H	0.94264	3.515	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13019	-1.0525	10	0.87932	D	0	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	43	O60811	PRAM2_HUMAN	D	43	ENSP00000240189:A43D	ENSP00000240189:A43D	A	+	2	0	PRAMEF2	12841579	0.674000	0.27549	0.164000	0.22755	0.046000	0.14306	1.691000	0.37721	0.759000	0.33084	0.194000	0.17425	GCC		0.607	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		31	166	1	0	1.88708e-17	0.008361	3.29979e-17	31	166				
ATP13A2	23400	broad.mit.edu	37	1	17322790	17322790	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:17322790G>A	ENST00000326735.8	-	14	1345	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	ATP13A2_ENST00000341676.5_Missense_Mutation_p.L433F|ATP13A2_ENST00000452699.1_Missense_Mutation_p.L433F|ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	438					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L438F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ATGGTGCCGAGGAGAGCTGTG	0.657																																							uc001baa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1312-1314)CTC>TTC		ATPase type 13A2 isoform 1							70.0	75.0	73.0					1																	17322790		2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17322790G>A	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1312C>T	1.37:g.17322790G>A	ENSP00000327214:p.Leu438Phe					ATP13A2_uc001bab.2_Missense_Mutation_p.L433F|ATP13A2_uc001bac.2_Missense_Mutation_p.L433F|ATP13A2_uc009vpa.1_Missense_Mutation_p.L114F|ATP13A2_uc001bad.1_Missense_Mutation_p.L151F	p.L438F	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	14	1502	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	438			Helical; (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.1312C>T	CCDS175.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476675	0.26511	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000506174	D;D;D;D	0.91068	-2.65;-2.65;-2.65;-2.78	4.3	-2.45	0.06481	ATPase, P-type, ATPase-associated domain (1);	0.934141	0.09030	N	0.858953	T	0.81725	0.4883	L	0.33293	1	0.09310	N	1	B;B;B;B;B	0.15473	0.002;0.001;0.013;0.01;0.002	B;B;B;B;B	0.23150	0.006;0.008;0.044;0.032;0.014	T	0.67444	-0.5669	10	0.42905	T	0.14	-3.5867	2.3692	0.04326	0.0997:0.2506:0.3778:0.2719	.	114;151;433;433;438	Q52PK6;Q6ZP48;Q5JXY1;Q6S9Z9;Q9NQ11	.;.;.;.;AT132_HUMAN	F	438;433;433;152	ENSP00000327214:L438F;ENSP00000341115:L433F;ENSP00000413307:L433F;ENSP00000424393:L152F	ENSP00000327214:L438F	L	-	1	0	ATP13A2	17195377	0.052000	0.20516	0.901000	0.35422	0.811000	0.45836	-0.082000	0.11304	-0.045000	0.13468	0.491000	0.48974	CTC		0.657	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089		4	75	0	0	0	0.000602	0	4	75				
ACTL8	81569	broad.mit.edu	37	1	18152740	18152740	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:18152740T>C	ENST00000375406.1	+	3	1043	c.827T>C	c.(826-828)aTt>aCt	p.I276T		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	276					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.I276T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCACGGGCCATTGTGGAATCC	0.662											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001bat.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(826-828)ATT>ACT		actin-like 8							38.0	41.0	40.0					1																	18152740		2203	4300	6503	SO:0001583	missense	81569					cytoplasm|cytoskeleton		g.chr1:18152740T>C	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.827T>C	1.37:g.18152740T>C	ENSP00000364555:p.Ile276Thr		OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.I276T	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	1043	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	276					Q13104|Q96M75	Missense_Mutation	SNP	ENST00000375406.1	37	c.827T>C	CCDS183.1	.	.	.	.	.	.	.	.	.	.	T	0.025	-1.380728	0.01204	.	.	ENSG00000117148	ENST00000375406	T	0.10860	2.83	4.66	2.27	0.28462	.	1.825690	0.03710	N	0.250041	T	0.06005	0.0156	N	0.02736	-0.51	0.09310	N	1	B	0.15719	0.014	B	0.14578	0.011	T	0.35624	-0.9781	10	0.87932	D	0	-11.6914	6.7339	0.23399	0.0:0.2883:0.0:0.7117	.	276	Q9H568	ACTL8_HUMAN	T	276	ENSP00000364555:I276T	ENSP00000364555:I276T	I	+	2	0	ACTL8	18025327	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.211000	0.32382	0.230000	0.21059	0.533000	0.62120	ATT		0.662	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		10	55	0	0	0	0.008291	0	10	55				
ASAP3	55616	broad.mit.edu	37	1	23759638	23759638	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:23759638G>A	ENST00000336689.3	-	22	2299	c.2255C>T	c.(2254-2256)cCc>cTc	p.P752L	ASAP3_ENST00000495646.1_Missense_Mutation_p.P256L|ASAP3_ENST00000437606.2_Missense_Mutation_p.P743L	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	752					cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.P752L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CAAGGGCGGGGGACAGTCCTC	0.582																																							uc001bha.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2254-2256)CCC>CTC		ArfGAP with SH3 domain, ankyrin repeat and PH							98.0	102.0	101.0					1																	23759638		2203	4300	6503	SO:0001583	missense	55616				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding	g.chr1:23759638G>A	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.2255C>T	1.37:g.23759638G>A	ENSP00000338769:p.Pro752Leu					ASAP3_uc001bgy.1_Missense_Mutation_p.P256L|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.P642L|ASAP3_uc010oea.1_Missense_Mutation_p.P743L|ASAP3_uc001bhb.2_Missense_Mutation_p.P275L	p.P752L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN			22	2379	-			752					B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Missense_Mutation	SNP	ENST00000336689.3	37	c.2255C>T	CCDS235.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749029	0.69533	.	.	ENSG00000088280	ENST00000538685;ENST00000495646;ENST00000336689;ENST00000437606	T;T;T	0.61859	1.53;0.07;0.11	4.54	4.54	0.55810	.	19.832600	0.00166	N	0.000000	T	0.69223	0.3087	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.99;0.96;0.997	T	0.59010	-0.7534	10	0.25106	T	0.35	.	16.3971	0.83610	0.0:0.0:1.0:0.0	.	743;642;275;752	Q8TDY4-3;B4DRP2;Q9NXH7;Q8TDY4	.;.;.;ASAP3_HUMAN	L	275;256;752;743	ENSP00000436150:P256L;ENSP00000338769:P752L;ENSP00000408826:P743L	ENSP00000338769:P752L	P	-	2	0	ASAP3	23632225	1.000000	0.71417	0.998000	0.56505	0.415000	0.31203	6.577000	0.74027	2.524000	0.85096	0.561000	0.74099	CCC		0.582	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008916.2	NM_017707		8	134	0	0	0	0.004482	0	8	134				
ZNF683	257101	broad.mit.edu	37	1	26688417	26688417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:26688417G>T	ENST00000436292.1	-	7	1420	c.1300C>A	c.(1300-1302)Cgc>Agc	p.R434S	ZNF683_ENST00000374204.1_Missense_Mutation_p.R414S|ZNF683_ENST00000349618.3_Missense_Mutation_p.R414S|ZNF683_ENST00000403843.1_Missense_Mutation_p.R434S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	434					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R414S(1)|p.R419S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TGGGTGAAGCGACTCCGGCAG	0.662																																							uc001bmg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1300-1302)CGC>AGC		zinc finger protein 683							50.0	51.0	51.0					1																	26688417		2203	4300	6503	SO:0001583	missense	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26688417G>T	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.1300C>A	1.37:g.26688417G>T	ENSP00000388792:p.Arg434Ser					ZNF683_uc001bmh.1_Missense_Mutation_p.R414S|ZNF683_uc009vsj.1_Missense_Mutation_p.R414S	p.R434S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	7	1418	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	434			C2H2-type 4.		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37	c.1300C>A		.	.	.	.	.	.	.	.	.	.	G	13.56	2.273214	0.40194	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	3.96	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.358492	0.20637	N	0.088466	T	0.09468	0.0233	N	0.05158	-0.105	0.24718	N	0.993163	P;P	0.37781	0.553;0.608	B;P	0.45753	0.209;0.492	T	0.30937	-0.9961	10	0.16420	T	0.52	-19.1251	6.6758	0.23093	0.22:0.0:0.78:0.0	.	414;434	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	S	434;434;414;414	ENSP00000384782:R434S;ENSP00000388792:R434S;ENSP00000363320:R414S;ENSP00000344095:R414S	ENSP00000344095:R414S	R	-	1	0	ZNF683	26561004	0.990000	0.36364	0.080000	0.20451	0.634000	0.38068	2.795000	0.47861	0.612000	0.30071	0.561000	0.74099	CGC		0.662	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		16	60	1	0	3.45872e-05	0.004007	4.67814e-05	16	60				
GPATCH3	63906	broad.mit.edu	37	1	27215499	27215499	+	IGR	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:27215499G>A	ENST00000361720.5	-	0	2123				GPN2_ENST00000374133.3_5'Flank|GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374135.4_Missense_Mutation_p.L177F	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)	p.L177F(1)		endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTTGGAAAGGAGGTTGATG	0.532																																							uc001bnd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(529-531)CTT>TTT		ATP binding domain 1 family, member B							262.0	242.0	249.0					1																	27215499		2203	4300	6503	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27215499G>A	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27215499G>A							p.L177F	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			2	811	-			177					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.529C>T	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436945	0.83885	.	.	ENSG00000142751	ENST00000374135;ENST00000374131;ENST00000431781	T	0.27104	1.69	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.52484	0.1737	M	0.79805	2.47	0.80722	D	1	P	0.50819	0.939	D	0.63381	0.914	T	0.56263	-0.8008	10	0.52906	T	0.07	-29.5653	17.314	0.87217	0.0:0.0:1.0:0.0	.	177	Q9H9Y4	GPN2_HUMAN	F	177;106;106	ENSP00000363250:L177F	ENSP00000363246:L106F	L	-	1	0	GPN2	27088086	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.238000	0.95380	2.328000	0.79073	0.561000	0.74099	CTT		0.532	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		15	270	0	0	0	0.006122	0	15	270				
MACF1	23499	broad.mit.edu	37	1	39783000	39783000	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:39783000C>T	ENST00000372915.3	+	28	3805	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	MACF1_ENST00000567887.1_Silent_p.L1272L|MACF1_ENST00000564288.1_Silent_p.L1235L|MACF1_ENST00000539005.1_Silent_p.L1240L|MACF1_ENST00000317713.7_Silent_p.L1240L|MACF1_ENST00000545844.1_Silent_p.L1240L|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Silent_p.L1240L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1240					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.L1240L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCGAAATCTGGATTTGGA	0.532																																							uc010ois.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(3718-3720)CTG>TTG		microfilament and actin filament cross-linker							88.0	82.0	84.0					1																	39783000		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39783000C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.3718C>T	1.37:g.39783000C>T						MACF1_uc001cda.1_Silent_p.L1148L|MACF1_uc001cdc.1_Silent_p.L327L|MACF1_uc009vvq.1_Silent_p.L297L|MACF1_uc001cdb.1_Silent_p.L327L	p.L1240L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		30	3923	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1240					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.3718C>T		.	.	.	.	.	.	.	.	.	.	C	3.447	-0.112878	0.06881	.	.	ENSG00000127603	ENST00000372925	.	.	.	5.74	2.83	0.33086	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27571	-1.0070	4	.	.	.	.	1.837	0.03142	0.2279:0.3956:0.2264:0.1501	.	.	.	.	F	373	.	.	S	+	2	0	MACF1	39555587	0.993000	0.37304	0.993000	0.49108	0.344000	0.29017	0.433000	0.21477	0.348000	0.23949	-0.320000	0.08662	TCT		0.532	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	53	0	0	0	0.004482	0	7	53				
BMP8A	353500	broad.mit.edu	37	1	39991331	39991331	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:39991331T>C	ENST00000331593.5	+	7	1416	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	357					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)		p.M357T(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCACCTGATGAAGCCAAAC	0.637																																							uc001cdi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1069-1071)ATG>ACG		bone morphogenetic protein 8A precursor							103.0	78.0	86.0					1																	39991331		2203	4300	6503	SO:0001583	missense	353500				cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity	g.chr1:39991331T>C	AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.1070T>C	1.37:g.39991331T>C	ENSP00000327440:p.Met357Thr					PPIEL_uc001cdj.1_RNA|PPIEL_uc001cdk.2_Intron	p.M357T	NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		7	1416	+	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	357					Q5T3A5	Missense_Mutation	SNP	ENST00000331593.5	37	c.1070T>C	CCDS437.1	.	.	.	.	.	.	.	.	.	.	t	16.74	3.207505	0.58343	.	.	ENSG00000183682	ENST00000331593	D	0.88431	-2.38	4.36	4.36	0.52297	Transforming growth factor-beta, C-terminal (3);	0.132210	0.51477	U	0.000091	D	0.90359	0.6983	M	0.78637	2.42	0.52501	D	0.999957	P	0.34997	0.479	B	0.42692	0.395	D	0.89484	0.3752	9	.	.	.	.	13.4955	0.61424	0.0:0.0:0.0:1.0	.	357	Q7Z5Y6	BMP8A_HUMAN	T	357	ENSP00000327440:M357T	.	M	+	2	0	BMP8A	39763918	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.855000	0.86950	1.725000	0.51514	0.533000	0.62120	ATG		0.637	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809		10	39	0	0	0	0.008291	0	10	39				
RLF	6018	broad.mit.edu	37	1	40706012	40706012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:40706012C>T	ENST00000372771.4	+	8	5665	c.5638C>T	c.(5638-5640)Cat>Tat	p.H1880Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1880					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H1880Y(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAACAGCTTCATTATCTTCG	0.393																																							uc001cfc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5638-5640)CAT>TAT		rearranged L-myc fusion							96.0	99.0	98.0					1																	40706012		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40706012C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.5638C>T	1.37:g.40706012C>T	ENSP00000361857:p.His1880Tyr					RLF_uc001cfd.3_Missense_Mutation_p.H1571Y	p.H1880Y	NM_012421	NP_036553	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	5669	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1880					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.5638C>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249885	0.59212	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.15487	2.42	5.35	5.35	0.76521	.	0.051648	0.85682	D	0.000000	T	0.35098	0.0920	L	0.43152	1.355	0.80722	D	1	D;D	0.62365	0.991;0.985	D;P	0.64144	0.922;0.838	T	0.01578	-1.1320	10	0.87932	D	0	-15.4235	19.6142	0.95626	0.0:1.0:0.0:0.0	.	1573;1880	F5H2M5;Q13129	.;RLF_HUMAN	Y	1880;1573	ENSP00000361857:H1880Y	ENSP00000361857:H1880Y	H	+	1	0	RLF	40478599	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.941000	0.99782	0.655000	0.94253	CAT		0.393	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		10	84	0	0	0	0.006214	0	10	84				
HIVEP3	59269	broad.mit.edu	37	1	42049802	42049802	+	Missense_Mutation	SNP	C	C	A	rs147878871		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:42049802C>A	ENST00000372583.1	-	4	1552	c.667G>T	c.(667-669)Ggc>Tgc	p.G223C	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G223C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G223C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G223C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	223	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|ZAS1.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G223C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCACAGGGGCCGCAGGGGTAG	0.602																																							uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(667-669)GGC>TGC		human immunodeficiency virus type I enhancer							46.0	50.0	49.0					1																	42049802		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42049802C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.667G>T	1.37:g.42049802C>A	ENSP00000361664:p.Gly223Cys					HIVEP3_uc001cha.3_Missense_Mutation_p.G223C|HIVEP3_uc001cgy.2_RNA	p.G223C	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			4	1880	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	223			C2H2-type 2.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|ZAS1.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.667G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601686	0.46423	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.15	3.11	0.35812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.376791	0.23121	N	0.051699	T	0.26846	0.0657	L	0.51914	1.62	0.33610	D	0.603477	D;D	0.76494	0.995;0.999	D;D	0.72075	0.916;0.976	T	0.38001	-0.9681	10	0.46703	T	0.11	-0.1124	2.2992	0.04158	0.2822:0.4883:0.0:0.2295	.	223;223	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	223	ENSP00000361665:G223C;ENSP00000361664:G223C;ENSP00000247584:G223C;ENSP00000410828:G223C	ENSP00000247584:G223C	G	-	1	0	HIVEP3	41822389	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.120000	0.50430	1.374000	0.46228	0.655000	0.94253	GGC		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	55	1	0	5.18039e-06	0.00308	7.1912e-06	7	55				
KANK4	163782	broad.mit.edu	37	1	62703976	62703976	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:62703976C>T	ENST00000371153.4	-	10	3339	c.2961G>A	c.(2959-2961)gcG>gcA	p.A987A	KANK4_ENST00000317477.4_Silent_p.A125A|KANK4_ENST00000371150.1_Silent_p.A343A|KANK4_ENST00000354381.3_Silent_p.A359A	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	987			A -> V (in dbSNP:rs34591898).			cytoplasm (GO:0005737)		p.A987A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGCCCTGCTCCGCGTGGGCTC	0.587																																							uc001dah.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|lung(1)	6						c.(2959-2961)GCG>GCA		ankyrin repeat domain 38							38.0	40.0	39.0					1																	62703976		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62703976C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2961G>A	1.37:g.62703976C>T						KANK4_uc001dai.3_Silent_p.A359A|KANK4_uc001daf.3_Silent_p.A125A|KANK4_uc001dag.3_Silent_p.A343A	p.A987A	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			10	3338	-			987			ANK 5.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.2961G>A	CCDS620.1																																																																																				0.587	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		8	65	0	0	0	0.004482	0	8	65				
NEGR1	257194	broad.mit.edu	37	1	72058514	72058514	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:72058514C>A	ENST00000357731.5	-	6	1165	c.926G>T	c.(925-927)aGc>aTc	p.S309I	NEGR1_ENST00000306821.3_Missense_Mutation_p.S181I|NEGR1_ENST00000434200.1_Missense_Mutation_p.S263I	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	309	Ig-like C2-type 3.				feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.S309I(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AAGAGGCAGGCTCGCATTGGT	0.483																																							uc001dfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(925-927)AGC>ATC		neuronal growth regulator 1 precursor							125.0	125.0	125.0					1																	72058514		2203	4300	6503	SO:0001583	missense	257194				cell adhesion	anchored to membrane|plasma membrane		g.chr1:72058514C>A	AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.926G>T	1.37:g.72058514C>A	ENSP00000350364:p.Ser309Ile					NEGR1_uc001dfv.2_Missense_Mutation_p.S181I|NEGR1_uc010oqs.1_Missense_Mutation_p.S265I	p.S309I	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	6	1026	-		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)	309			Ig-like C2-type 3.		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	ENST00000357731.5	37	c.926G>T	CCDS661.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029667	0.93518	.	.	ENSG00000172260	ENST00000357731;ENST00000306821;ENST00000434200	T;T;T	0.69040	-0.37;-0.37;-0.37	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82047	0.4952	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.80407	-0.1395	10	0.46703	T	0.11	-13.5224	20.5568	0.99304	0.0:1.0:0.0:0.0	.	263;309	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	I	309;181;263	ENSP00000350364:S309I;ENSP00000305938:S181I;ENSP00000413294:S263I	ENSP00000305938:S181I	S	-	2	0	NEGR1	71831102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.742000	0.68646	2.861000	0.98227	0.655000	0.94253	AGC		0.483	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026722.4	NM_173808		19	147	1	0	8.34094e-07	0.008871	1.19724e-06	19	147				
FPGT	8790	broad.mit.edu	37	1	74663994	74663994	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:74663994C>T	ENST00000609362.1	+	1	69	c.32C>T	c.(31-33)tCg>tTg	p.S11L	FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT_ENST00000534056.1_Missense_Mutation_p.S11L|FPGT_ENST00000467578.2_Missense_Mutation_p.S24L|LRRIQ3_ENST00000370909.2_5'Flank|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S11L|FPGT_ENST00000370894.5_Missense_Mutation_p.S11L|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.S11L|FPGT_ENST00000482102.2_Missense_Mutation_p.S11L|FPGT_ENST00000524915.1_3'UTR|FPGT_ENST00000370898.3_Missense_Mutation_p.S24L|FPGT-TNNI3K_ENST00000370893.1_Missense_Mutation_p.S11L|LRRIQ3_ENST00000354431.4_5'Flank|LRRIQ3_ENST00000370911.3_5'Flank|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.S24L|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.S11L	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	11					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.S11L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CCGGAAGTATCGCTGCGAGAA	0.642																																							uc001dge.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(31-33)TCG>TTG		TNNI3 interacting kinase isoform a							51.0	50.0	50.0					1																	74663994		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74663994C>T	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.32C>T	1.37:g.74663994C>T	ENSP00000476680:p.Ser11Leu					LRRIQ3_uc001dfy.3_5'Flank|LRRIQ3_uc001dfz.3_5'Flank|TNNI3K_uc001dgc.1_Missense_Mutation_p.S11L|TNNI3K_uc001dgd.2_Missense_Mutation_p.S11L|FPGT_uc010oqt.1_5'UTR|FPGT_uc010oqu.1_Missense_Mutation_p.S11L|FPGT_uc001dgb.1_Missense_Mutation_p.S11L|FPGT_uc010oqv.1_Missense_Mutation_p.S11L	p.S11L	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN			1	48	+			Error:Variant_position_missing_in_Q59H18_after_alignment					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.32C>T	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745512	0.30955	.	.	ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000254685;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000467578;ENST00000524915;ENST00000482102;ENST00000370898;ENST00000370894;ENST00000534056;ENST00000370899;ENST00000370895;ENST00000534632;ENST00000557284;ENST00000370891;ENST00000370893	T;T;T;T;T;T	0.74421	1.55;0.96;-0.84;-0.55;-0.83;-0.83	4.7	3.78	0.43462	.	0.810508	0.11254	N	0.583348	T	0.37019	0.0988	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.31680	0.002;0.091;0.021;0.021;0.335;0.006	B;B;B;B;B;B	0.19148	0.001;0.017;0.013;0.011;0.024;0.002	T	0.24977	-1.0145	10	0.48119	T	0.1	.	11.5721	0.50839	0.0:0.6512:0.3488:0.0	.	11;11;11;11;11;11	B4DH62;E9PNQ2;Q59H18-1;Q59H18-4;Q59H18-3;O14772	.;.;.;.;.;FPGT_HUMAN	L	11	ENSP00000359935:S11L;ENSP00000432819:S11L;ENSP00000359936:S11L;ENSP00000359932:S11L;ENSP00000450895:S11L;ENSP00000359928:S11L	ENSP00000359928:S11L	S	+	2	0	RP11-653A5.2;TNNI3K;AC093158.1	74436582	0.010000	0.17322	0.149000	0.22428	0.256000	0.26092	0.577000	0.23758	1.310000	0.45006	0.561000	0.74099	TCG		0.642	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	30	0	0	0	0.000978	0	11	30				
AK5	26289	broad.mit.edu	37	1	77763335	77763335	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:77763335G>A	ENST00000354567.2	+	4	770	c.507G>A	c.(505-507)aaG>aaA	p.K169K	AK5_ENST00000344720.5_Silent_p.K143K|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	169	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.K169K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TATTAAGAAAGAAGATCCACA	0.388																																							uc001dhn.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(505-507)AAG>AAA		adenylate kinase 5 isoform 1							112.0	113.0	112.0					1																	77763335		2203	4300	6503	SO:0001819	synonymous_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763335G>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.507G>A	1.37:g.77763335G>A						AK5_uc001dho.2_Silent_p.K143K|AK5_uc001dhm.1_Silent_p.K145K	p.K169K	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			4	764	+			169					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Silent	SNP	ENST00000354567.2	37	c.507G>A	CCDS675.1																																																																																				0.388	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		15	64	0	0	0	0.00245	0	15	64				
AK5	26289	broad.mit.edu	37	1	77763337	77763337	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:77763337A>T	ENST00000354567.2	+	4	772	c.509A>T	c.(508-510)aAg>aTg	p.K170M	AK5_ENST00000344720.5_Missense_Mutation_p.K144M|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	170	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)	p.K170M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TTAAGAAAGAAGATCCACAGT	0.388																																							uc001dhn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(508-510)AAG>ATG		adenylate kinase 5 isoform 1							112.0	113.0	113.0					1																	77763337		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77763337A>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.509A>T	1.37:g.77763337A>T	ENSP00000346577:p.Lys170Met					AK5_uc001dho.2_Missense_Mutation_p.K144M|AK5_uc001dhm.1_Missense_Mutation_p.K146M	p.K170M	NM_174858	NP_777283	Q9Y6K8	KAD5_HUMAN			4	766	+			170					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.509A>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.970688	0.74246	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;T	0.77489	-1.1;-1.1;-1.1	5.75	3.17	0.36434	.	0.105878	0.64402	D	0.000007	T	0.66386	0.2784	N	0.11064	0.09	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.74674	0.984;0.947	T	0.74250	-0.3726	10	0.87932	D	0	-0.3441	9.8413	0.40999	0.8192:0.0:0.1808:0.0	.	170;146	Q9Y6K8;Q8N291	KAD5_HUMAN;.	M	170;144;144	ENSP00000346577:K170M;ENSP00000341430:K144M;ENSP00000434409:K144M	ENSP00000341430:K144M	K	+	2	0	AK5	77535925	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.982000	0.63825	1.118000	0.41863	-0.263000	0.10527	AAG		0.388	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		17	67	0	0	0	0.004007	0	17	67				
IFI44	10561	broad.mit.edu	37	1	79128523	79128523	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:79128523T>A	ENST00000370747.4	+	8	1333	c.1248T>A	c.(1246-1248)gcT>gcA	p.A416A	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	416					response to virus (GO:0009615)	cytoplasm (GO:0005737)		p.A416A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TGCTATGGGCTGCAGATGACT	0.458																																							uc001dip.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1246-1248)GCT>GCA		interferon-induced, hepatitis C-associated							211.0	203.0	206.0					1																	79128523		2203	4300	6503	SO:0001819	synonymous_variant	10561				response to virus	cytoplasm		g.chr1:79128523T>A	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1248T>A	1.37:g.79128523T>A							p.A416A	NM_006417	NP_006408	Q8TCB0	IFI44_HUMAN			8	1372	+			416					B7ZAG3|D3DQ80|Q14496	Silent	SNP	ENST00000370747.4	37	c.1248T>A	CCDS688.1	.	.	.	.	.	.	.	.	.	.	T	7.448	0.642010	0.14451	.	.	ENSG00000137965	ENST00000446486	.	.	.	3.52	1.16	0.20824	.	.	.	.	.	T	0.27384	0.0672	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	T	0.14896	-1.0456	4	.	.	.	.	2.915	0.05750	0.3907:0.1115:0.0:0.4978	.	.	.	.	Q	35	.	.	L	+	2	0	IFI44	78901111	0.364000	0.24997	0.489000	0.27452	0.705000	0.40729	0.216000	0.17585	0.215000	0.20761	0.421000	0.28195	CTG		0.458	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417		17	110	0	0	0	0.007413	0	17	110				
WDR63	126820	broad.mit.edu	37	1	85595688	85595688	+	Missense_Mutation	SNP	C	C	A	rs190384593		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:85595688C>A	ENST00000294664.6	+	22	2605	c.2425C>A	c.(2425-2427)Cac>Aac	p.H809N	WDR63_ENST00000326813.8_Missense_Mutation_p.H770N|WDR63_ENST00000370596.1_Missense_Mutation_p.H770N	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	809								p.H809N(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAGTGTCAACCACTATTTTGA	0.418																																							uc001dkt.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(2425-2427)CAC>AAC		WD repeat domain 63							127.0	134.0	131.0					1																	85595688		2203	4300	6503	SO:0001583	missense	126820							g.chr1:85595688C>A		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.2425C>A	1.37:g.85595688C>A	ENSP00000294664:p.His809Asn					WDR63_uc009wcl.2_Missense_Mutation_p.H770N	p.H809N	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	22	2616	+			809					A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	ENST00000294664.6	37	c.2425C>A	CCDS702.1	.	.	.	.	.	.	.	.	.	.	C	1.105	-0.659874	0.03454	.	.	ENSG00000162643	ENST00000370596;ENST00000326813;ENST00000294664;ENST00000484007	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.42	-8.96	0.00761	.	0.526365	0.20797	N	0.085512	T	0.04003	0.0112	N	0.04355	-0.22	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37314	-0.9711	10	0.17369	T	0.5	-0.5552	7.3945	0.26929	0.0884:0.544:0.0822:0.2854	.	770;809	Q8IWG1-2;Q8IWG1	.;WDR63_HUMAN	N	770;770;809;91	ENSP00000359628:H770N;ENSP00000317463:H770N;ENSP00000294664:H809N;ENSP00000435544:H91N	ENSP00000294664:H809N	H	+	1	0	WDR63	85368276	0.000000	0.05858	0.004000	0.12327	0.202000	0.24057	-4.034000	0.00309	-1.153000	0.02829	0.650000	0.86243	CAC		0.418	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		38	247	1	0	9.85521e-28	0.00623	1.80299e-27	38	247				
GBP5	115362	broad.mit.edu	37	1	89735201	89735201	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:89735201A>G	ENST00000370459.3	-	2	165	c.38T>C	c.(37-39)cTc>cCc	p.L13P	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000343435.5_Missense_Mutation_p.L13P			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	13	GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.L13P(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTTCTCGATGAGGCACATGGG	0.478																																							uc001dnc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(37-39)CTC>CCC		guanylate-binding protein 5							219.0	207.0	211.0					1																	89735201		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89735201A>G	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.38T>C	1.37:g.89735201A>G	ENSP00000359488:p.Leu13Pro					GBP5_uc001dnd.2_Missense_Mutation_p.L13P|GBP5_uc001dne.1_Missense_Mutation_p.L13P	p.L13P	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	3	575	-			13					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.38T>C	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114377	0.56505	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.67345	-0.26;-0.26;-0.26	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	D	0.84593	0.5506	H	0.96048	3.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89043	0.3450	10	0.87932	D	0	-9.6505	12.965	0.58480	1.0:0.0:0.0:0.0	.	13	Q96PP8	GBP5_HUMAN	P	13	ENSP00000340396:L13P;ENSP00000359488:L13P;ENSP00000403010:L13P	ENSP00000340396:L13P	L	-	2	0	GBP5	89507789	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	6.427000	0.73378	2.229000	0.72834	0.533000	0.62120	CTC		0.478	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		14	201	0	0	0	0.003163	0	14	201				
ARHGAP29	9411	broad.mit.edu	37	1	94668512	94668512	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:94668512C>T	ENST00000260526.6	-	10	1098	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E306K	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	306					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)	p.E306K(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTTTATTTCTTTCCTTTGT	0.299																																							uc001dqj.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1)	11						c.(916-918)GAA>AAA		PTPL1-associated RhoGAP 1							105.0	117.0	113.0					1																	94668512		2202	4298	6500	SO:0001583	missense	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94668512C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.916G>A	1.37:g.94668512C>T	ENSP00000260526:p.Glu306Lys					ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.E306K	p.E306K	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	10	1285	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	306			Potential.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	c.916G>A	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191862	0.94923	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.37058	1.22;1.22	6.1	5.19	0.71726	.	0.186351	0.26334	N	0.024973	T	0.56630	0.1998	M	0.86420	2.815	0.58432	D	0.999995	D;D	0.76494	0.972;0.999	P;D	0.68765	0.797;0.96	T	0.67304	-0.5704	10	0.72032	D	0.01	-16.9981	15.3181	0.74099	0.0:0.9332:0.0:0.0668	.	306;306	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	K	306	ENSP00000260526:E306K;ENSP00000359237:E306K	ENSP00000260526:E306K	E	-	1	0	ARHGAP29	94441100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.189000	0.65098	1.582000	0.49881	0.650000	0.86243	GAA		0.299	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		12	131	0	0	0	0.001855	0	12	131				
RWDD3	25950	broad.mit.edu	37	1	95712169	95712169	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:95712169G>A	ENST00000370202.4	+	3	721	c.645G>A	c.(643-645)atG>atA	p.M215I	RP11-57H12.5_ENST00000598739.1_RNA|RWDD3_ENST00000263893.6_Intron|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	215					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M215I(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AAGAGAAAATGATTAGTGTAC	0.313																																							uc009wdu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(643-645)ATG>ATA		RWD domain containing 3 isoform a							113.0	106.0	108.0					1																	95712169		1835	4078	5913	SO:0001583	missense	25950					cytoplasm|nucleus	protein binding	g.chr1:95712169G>A	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.645G>A	1.37:g.95712169G>A	ENSP00000359221:p.Met215Ile					RWDD3_uc001drf.3_Intron|RWDD3_uc001drh.3_Missense_Mutation_p.D185N|RWDD3_uc009wdv.2_RNA|RWDD3_uc001drg.3_RNA|RWDD3_uc001dri.3_Missense_Mutation_p.D200N	p.M215I	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	3	721	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	215					A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Missense_Mutation	SNP	ENST00000370202.4	37	c.645G>A	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694607	0.88830	.	.	ENSG00000122481	ENST00000370202	T	0.35605	1.3	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.26710	-1.0095	9	0.29301	T	0.29	-22.4098	20.5568	0.99304	0.0:0.0:1.0:0.0	.	215	Q9Y3V2	RWDD3_HUMAN	I	215	ENSP00000359221:M215I	ENSP00000359221:M215I	M	+	3	0	RWDD3	95484757	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.441000	0.80485	2.861000	0.98227	0.655000	0.94253	ATG		0.313	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485		7	70	0	0	0	0.001984	0	7	70				
SLC16A1	6566	broad.mit.edu	37	1	113456568	113456568	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:113456568G>C	ENST00000538576.1	-	5	2279	c.1448C>G	c.(1447-1449)tCt>tGt	p.S483C	SLC16A1_ENST00000369626.3_Missense_Mutation_p.S483C	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	483					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.S483C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	CTGGTCCGGAGATTCTGCTGC	0.468																																							uc001ecx.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1447-1449)TCT>TGT		solute carrier family 16, member 1	Pyruvic acid(DB00119)						208.0	214.0	212.0					1																	113456568		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113456568G>C	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.1448C>G	1.37:g.113456568G>C	ENSP00000441065:p.Ser483Cys					SLC16A1_uc001ecy.2_Missense_Mutation_p.S483C	p.S483C	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	5	2280	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	483			Cytoplasmic (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.1448C>G	CCDS858.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841933	0.32513	.	.	ENSG00000155380	ENST00000369626;ENST00000538576	T;T	0.23950	1.88;1.88	5.86	5.86	0.93980	.	0.657130	0.16373	N	0.217245	T	0.16514	0.0397	N	0.08118	0	0.39040	D	0.960114	P	0.42248	0.774	P	0.53549	0.729	T	0.09422	-1.0675	10	0.59425	D	0.04	.	13.7671	0.63002	0.0:0.0:0.8468:0.1532	.	483	P53985	MOT1_HUMAN	C	483	ENSP00000358640:S483C;ENSP00000441065:S483C	ENSP00000358640:S483C	S	-	2	0	SLC16A1	113258091	0.095000	0.21747	0.736000	0.30914	0.095000	0.18619	2.179000	0.42528	2.771000	0.95319	0.650000	0.86243	TCT		0.468	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		36	205	0	0	0	0.005524	0	36	205				
NOTCH2	4853	broad.mit.edu	37	1	120510124	120510124	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:120510124G>C	ENST00000256646.2	-	8	1604	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	462	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.S462*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGGGTCTGAATGGCACTC	0.507			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Nonsense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1384-1386)TCA>TGA		notch 2 preproprotein							180.0	158.0	166.0					1																	120510124		2203	4300	6503	SO:0001587	stop_gained	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120510124G>C	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1385C>G	1.37:g.120510124G>C	ENSP00000256646:p.Ser462*					NOTCH2_uc001eil.2_Nonsense_Mutation_p.S462*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.S379*	p.S462*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	8	1641	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	462			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.1385C>G	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	41	8.921634	0.99004	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	.	.	.	5.71	5.71	0.89125	.	0.000000	0.32593	U	0.005898	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.8332	0.92150	0.0:0.0:1.0:0.0	.	.	.	.	X	462;423	.	ENSP00000256646:S462X	S	-	2	0	NOTCH2	120311647	1.000000	0.71417	0.814000	0.32528	0.925000	0.55904	9.476000	0.97823	2.698000	0.92095	0.650000	0.86243	TCA		0.507	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	140	0	0	0	0.00308	0	7	140				
TCHHL1	126637	broad.mit.edu	37	1	152058337	152058337	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152058337C>G	ENST00000368806.1	-	3	1885	c.1821G>C	c.(1819-1821)ctG>ctC	p.L607L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	607							calcium ion binding (GO:0005509)	p.L607L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCACTGCCTCCAGAGCTCTGT	0.537																																							uc001ezo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1819-1821)CTG>CTC		trichohyalin-like 1							116.0	110.0	112.0					1																	152058337		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152058337C>G		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1821G>C	1.37:g.152058337C>G							p.L607L	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1886	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		607					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.1821G>C	CCDS30857.1																																																																																				0.537	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		36	136	0	0	0	0.002836	0	36	136				
HRNR	388697	broad.mit.edu	37	1	152192118	152192118	+	Missense_Mutation	SNP	C	C	T	rs552018177		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152192118C>T	ENST00000368801.2	-	3	2062	c.1987G>A	c.(1987-1989)Ggc>Agc	p.G663S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	663					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G663S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTCGGCCGCGACTAGGA	0.592													t|||	1	0.000199681	0.0008	0.0	5008	,	,		21665	0.0		0.0	False		,,,				2504	0.0						uc001ezt.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1987-1989)GGC>AGC		hornerin							137.0	149.0	145.0					1																	152192118		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192118C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1987G>A	1.37:g.152192118C>T	ENSP00000357791:p.Gly663Ser						p.G663S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2063	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		663			6.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.1987G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	9.034	0.987973	0.18966	.	.	ENSG00000197915	ENST00000368801	T	0.04317	3.65	3.45	-4.36	0.03645	.	.	.	.	.	T	0.01092	0.0036	L	0.43152	1.355	0.09310	N	1	P	0.35011	0.48	B	0.20184	0.028	T	0.38265	-0.9669	9	0.27082	T	0.32	.	10.1026	0.42513	0.0:0.4773:0.0:0.5227	.	663	Q86YZ3	HORN_HUMAN	S	663	ENSP00000357791:G663S	ENSP00000357791:G663S	G	-	1	0	HRNR	150458742	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.425000	0.00236	-0.839000	0.04212	-0.132000	0.14878	GGC		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		57	258	0	0	0	0.00361	0	57	258				
FLG2	388698	broad.mit.edu	37	1	152326042	152326042	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152326042C>G	ENST00000388718.5	-	3	4292	c.4220G>C	c.(4219-4221)gGa>gCa	p.G1407A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1407					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1407A(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGACTGTCCATGACCAGA	0.527																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4219-4221)GGA>GCA		filaggrin family member 2							234.0	222.0	226.0					1																	152326042		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326042C>G	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4220G>C	1.37:g.152326042C>G	ENSP00000373370:p.Gly1407Ala					uc001ezv.2_Intron	p.G1407A	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4293	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1407					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4220G>C	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.574618	0.28092	.	.	ENSG00000143520	ENST00000388718	T	0.12984	2.63	4.04	2.07	0.26955	.	.	.	.	.	T	0.06962	0.0177	L	0.56124	1.755	0.09310	N	1	D	0.61080	0.989	P	0.49829	0.623	T	0.25293	-1.0136	9	0.24483	T	0.36	-1.5913	6.956	0.24572	0.0:0.7709:0.0:0.2291	.	1407	Q5D862	FILA2_HUMAN	A	1407	ENSP00000373370:G1407A	ENSP00000373370:G1407A	G	-	2	0	FLG2	150592666	0.000000	0.05858	0.000000	0.03702	0.230000	0.25150	-0.149000	0.10204	0.264000	0.21851	0.306000	0.20318	GGA		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		33	402	0	0	0	0.001786	0	33	402				
LCE3B	353143	broad.mit.edu	37	1	152586476	152586476	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:152586476C>A	ENST00000335633.1	+	1	190	c.190C>A	c.(190-192)Cac>Aac	p.H64N		NM_178433.1	NP_848520.1	Q5TA77	LCE3B_HUMAN	late cornified envelope 3B	64	Cys-rich.				keratinization (GO:0031424)			p.H64N(1)		large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTGCAGGTCCCACCGATGCCG	0.662																																							uc010pds.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(190-192)CAC>AAC		late cornified envelope 3B							56.0	53.0	54.0					1																	152586476		1821	2702	4523	SO:0001583	missense	353143				keratinization			g.chr1:152586476C>A		CCDS1016.1	1q21.3	2008-02-05			ENSG00000187238	ENSG00000187238		"""Late cornified envelopes"""	29462	protein-coding gene	gene with protein product		612614				11698679	Standard	NM_178433		Approved	LEP14	uc010pds.2	Q5TA77	OTTHUMG00000012395	ENST00000335633.1:c.190C>A	1.37:g.152586476C>A	ENSP00000335358:p.His64Asn						p.H64N	NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)	1	190	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		64			Cys-rich.			Missense_Mutation	SNP	ENST00000335633.1	37	c.190C>A	CCDS1016.1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394361	0.11638	.	.	ENSG00000187238	ENST00000335633	T	0.03951	3.75	3.19	3.19	0.36642	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.29910	N	0.823655	D	0.67145	0.996	D	0.73708	0.981	T	0.02758	-1.1114	8	0.87932	D	0	.	9.6951	0.40152	0.0:1.0:0.0:0.0	.	64	Q5TA77	LCE3B_HUMAN	N	64	ENSP00000335358:H64N	ENSP00000335358:H64N	H	+	1	0	LCE3B	150853100	0.932000	0.31603	0.927000	0.36925	0.423000	0.31445	1.812000	0.38952	1.587000	0.49959	0.462000	0.41574	CAC		0.662	LCE3B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034515.2	NM_178433		54	70	1	0	5.13769e-22	0.00361	9.21291e-22	54	70				
TPM3	7170	broad.mit.edu	37	1	154141852	154141852	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:154141852G>C	ENST00000368530.2	-	9	975	c.783C>G	c.(781-783)ctC>ctG	p.L261L	TPM3_ENST00000341485.5_Intron|TPM3_ENST00000368533.3_Intron|RN7SL431P_ENST00000582918.1_RNA|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000328159.4_Silent_p.L224L|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000330188.9_Intron	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	261					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)		p.L261L(1)	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCTGGGCATAGAGCTCATCTG	0.493			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																		uc001fec.1		NA		Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	NTRK1|ALK		papillary thyroid|ALCL	TPM3/ALK(33)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34						c.(781-783)CTC>CTG		tropomyosin 3 isoform 1							149.0	135.0	140.0					1																	154141852		2203	4300	6503	SO:0001819	synonymous_variant	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154141852G>C	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.783C>G	1.37:g.154141852G>C						TPM3_uc001fdx.1_Intron|TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Intron|TPM3_uc001fdz.1_Intron|TPM3_uc001fea.1_Intron|TPM3_uc001feb.1_Intron|TPM3_uc010pej.1_Intron|TPM3_uc009wor.2_Intron|TPM3_uc001fed.1_Silent_p.L224L	p.L261L	NM_152263	NP_689476	P06753	TPM3_HUMAN			9	898	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		260			By similarity.		D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Silent	SNP	ENST00000368530.2	37	c.783C>G	CCDS41403.1																																																																																				0.493	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		3	51	0	0	0	0.000248	0	3	51				
FAM189B	10712	broad.mit.edu	37	1	155218083	155218083	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:155218083C>G	ENST00000361361.2	-	11	2100	c.1591G>C	c.(1591-1593)Gaa>Caa	p.E531Q	FAM189B_ENST00000368368.3_Missense_Mutation_p.E513Q|FAM189B_ENST00000472550.1_5'Flank|FAM189B_ENST00000350210.2_Missense_Mutation_p.E435Q	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	531						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.E531Q(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGCAGGCTTCAGAGCAGAGC	0.617																																							uc001fjm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1591-1593)GAA>CAA		hypothetical protein LOC10712 isoform a							21.0	27.0	25.0					1																	155218083		2203	4300	6503	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155218083C>G	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.1591G>C	1.37:g.155218083C>G	ENSP00000354958:p.Glu531Gln					RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_Missense_Mutation_p.E333Q|FAM189B_uc001fjn.2_Missense_Mutation_p.E435Q|FAM189B_uc001fjo.2_Missense_Mutation_p.E513Q|FAM189B_uc001fjp.2_RNA	p.E531Q	NM_006589	NP_006580	P81408	F189B_HUMAN			11	2197	-			531					B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.1591G>C	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832507	0.71258	.	.	ENSG00000160767	ENST00000350210;ENST00000368368;ENST00000361361;ENST00000323361;ENST00000491082	T;T;T;T	0.03801	3.8;3.8;3.8;3.8	4.93	4.0	0.46444	.	0.504809	0.20603	N	0.089116	T	0.03263	0.0095	N	0.08118	0	0.27384	N	0.955348	D;D;D;D	0.71674	0.998;0.981;0.989;0.981	D;D;D;D	0.79784	0.993;0.954;0.979;0.954	T	0.39860	-0.9593	10	0.62326	D	0.03	-7.9891	8.5696	0.33561	0.0:0.8955:0.0:0.1045	.	296;513;435;531	B1AVS2;B1AVS5;P81408-2;P81408	.;.;.;F189B_HUMAN	Q	435;513;531;214;253	ENSP00000307128:E435Q;ENSP00000357352:E513Q;ENSP00000354958:E531Q;ENSP00000427011:E253Q	ENSP00000323164:E214Q	E	-	1	0	FAM189B	153484707	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	3.423000	0.52756	2.453000	0.82957	0.549000	0.68633	GAA		0.617	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		5	63	0	0	0	0.001984	0	5	63				
FCGR2B	2213	broad.mit.edu	37	1	161647156	161647156	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:161647156G>T	ENST00000358671.5	+	7	936		c.e7+1		RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367961.4_Splice_Site|FCGR2B_ENST00000367960.5_Splice_Site|FCGR2B_ENST00000403078.3_Splice_Site|FCGR2B_ENST00000236937.9_Splice_Site|FCGR2B_ENST00000367962.4_Splice_Site	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)				all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAAAGTTGGGGTGAGTGATCC	0.537			T	?	ALL																																		uc001gaz.1		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		1	Unknown(1)		lung(1)		0						c.e7+1		Fc fragment of IgG, low affinity IIb, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						144.0	138.0	140.0					1																	161647156		2203	4300	6503	SO:0001630	splice_region_variant	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161647156G>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.855+1G>T	1.37:g.161647156G>T						FCGR2B_uc001gay.1_Splice_Site_p.G284_splice|FCGR2B_uc001gba.1_Splice_Site_p.G265_splice|FCGR2B_uc001gbb.1_Splice_Site_p.G266_splice|FCGR2B_uc009wun.1_Splice_Site_p.G278_splice	p.G285_splice	NM_004001	NP_003992	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	947	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)							A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Splice_Site	SNP	ENST00000358671.5	37	c.855_splice	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998220	0.54147	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000403078;ENST00000236937;ENST00000367961;ENST00000358671	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6369	0.56689	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FCGR2B	159913780	1.000000	0.71417	0.987000	0.45799	0.301000	0.27625	4.084000	0.57650	2.337000	0.79520	0.561000	0.74099	.		0.537	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	NM_004001	Intron	22	90	1	0	2.32416e-17	0.002299	4.05287e-17	22	90				
OLFML2B	25903	broad.mit.edu	37	1	161953507	161953507	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:161953507G>A	ENST00000294794.3	-	8	2634	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	OLFML2B_ENST00000367940.2_Silent_p.D738D|OLFML2B_ENST00000367938.1_Silent_p.D220D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	737	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.D737D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGTGGCCATTGTCCCAGGCAT	0.532																																							uc001gbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2209-2211)GAC>GAT		olfactomedin-like 2B precursor							234.0	208.0	217.0					1																	161953507		2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161953507G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2211C>T	1.37:g.161953507G>A						OLFML2B_uc001gbt.2_Silent_p.D220D|OLFML2B_uc010pkq.1_Silent_p.D738D	p.D737D	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		8	2635	-	all_hematologic(112;0.156)		737			Olfactomedin-like.		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.2211C>T	CCDS1236.1																																																																																				0.532	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		53	129	0	0	0	0.00361	0	53	129				
KIFAP3	22920	broad.mit.edu	37	1	170015946	170015946	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:170015946C>T	ENST00000361580.2	-	3	453	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E32K|KIFAP3_ENST00000367765.1_Missense_Mutation_p.E36K|KIFAP3_ENST00000490550.1_5'UTR	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	76					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.E76K(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTACATTCTTCAACCACCTTC	0.373																																							uc001ggv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(226-228)GAA>AAA		kinesin-associated protein 3							139.0	124.0	129.0					1																	170015946		2203	4300	6503	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170015946C>T	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.226G>A	1.37:g.170015946C>T	ENSP00000354560:p.Glu76Lys					KIFAP3_uc010ply.1_5'UTR|KIFAP3_uc001ggw.1_Missense_Mutation_p.E32K	p.E76K	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			3	497	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		76					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.226G>A	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861336	0.91433	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767	T;T;T	0.56941	0.43;0.43;0.43	5.62	5.62	0.85841	.	0.043934	0.85682	D	0.000000	T	0.42832	0.1220	L	0.54323	1.7	0.80722	D	1	P;P	0.35493	0.505;0.505	B;B	0.38803	0.282;0.282	T	0.30504	-0.9976	9	.	.	.	-27.8348	19.6135	0.95619	0.0:1.0:0.0:0.0	.	32;76	B1AKU5;Q92845	.;KIFA3_HUMAN	K	76;36;32	ENSP00000354560:E76K;ENSP00000356739:E36K;ENSP00000356741:E32K	.	E	-	1	0	KIFAP3	168282570	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.809000	0.96659	0.467000	0.42956	GAA		0.373	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		16	99	0	0	0	0.003163	0	16	99				
MROH9	80133	broad.mit.edu	37	1	170959103	170959103	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:170959103G>T	ENST00000367758.3	+	11	1086	c.987G>T	c.(985-987)aaG>aaT	p.K329N	MROH9_ENST00000367759.4_Missense_Mutation_p.K329N	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	329								p.K329N(2)									CACCCAAGAAGGTCATCTTTC	0.468																																							uc001ghg.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(985-987)AAG>AAT		hypothetical protein LOC80133 isoform 2							123.0	118.0	119.0					1																	170959103		1941	4143	6084	SO:0001583	missense	80133						binding	g.chr1:170959103G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.987G>T	1.37:g.170959103G>T	ENSP00000356732:p.Lys329Asn					C1orf129_uc009wvy.2_Missense_Mutation_p.K136N|C1orf129_uc010plz.1_Missense_Mutation_p.K329N	p.K329N	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			11	1117	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		329					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.987G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772092	0.49680	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.32515	4.07;1.45	5.18	1.56	0.23342	Armadillo-like helical (1);	0.310015	0.28694	N	0.014442	T	0.28532	0.0706	M	0.67953	2.075	0.29514	N	0.853969	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.976	T	0.07947	-1.0746	10	0.52906	T	0.07	-4.4029	2.9147	0.05749	0.292:0.0:0.4897:0.2183	.	329;329	F5GWX6;Q5TGP6	.;CA129_HUMAN	N	329	ENSP00000356733:K329N;ENSP00000356732:K329N	ENSP00000356732:K329N	K	+	3	2	C1orf129	169225727	0.999000	0.42202	0.981000	0.43875	0.907000	0.53573	0.273000	0.18662	0.115000	0.18071	0.467000	0.42956	AAG		0.468	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		18	69	1	0	3.41278e-10	0.00499	5.41426e-10	18	69				
TNR	7143	broad.mit.edu	37	1	175375383	175375383	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:175375383G>T	ENST00000367674.2	-	3	1176	c.468C>A	c.(466-468)aaC>aaA	p.N156K	TNR_ENST00000263525.2_Missense_Mutation_p.N156K			Q92752	TENR_HUMAN	tenascin R	156	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.N156K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAGTTGGCGTTGCACTGGT	0.627																																							uc001gkp.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(466-468)AAC>AAA		tenascin R precursor							92.0	85.0	87.0					1																	175375383		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375383G>T	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.468C>A	1.37:g.175375383G>T	ENSP00000356646:p.Asn156Lys					TNR_uc009wwu.1_Missense_Mutation_p.N156K|TNR_uc010pmz.1_Missense_Mutation_p.N156K	p.N156K	NM_003285	NP_003276	Q92752	TENR_HUMAN			1	549	-	Renal(580;0.146)		156			Cys-rich.|Potential.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.468C>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.461|3.461	-0.109920|-0.109920	0.06924|0.06924	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673|ENST00000422274	T;T|.	0.28255|.	1.62;1.62|.	5.24|5.24	1.25|1.25	0.21368|0.21368	.|.	0.928775|.	0.09322|.	N|.	0.818056|.	T|T	0.36441|0.36441	0.0967|0.0967	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B;B|.	0.31318|.	0.319;0.088|.	B;B|.	0.23716|.	0.048;0.038|.	T|T	0.26430|0.26430	-1.0103|-1.0103	10|5	0.35671|.	T|.	0.21|.	.|.	9.0911|9.0911	0.36612|0.36612	0.3577:0.0:0.6423:0.0|0.3577:0.0:0.6423:0.0	.|.	156;156|.	B4DIX8;Q92752|.	.;TENR_HUMAN|.	K|S	156|40	ENSP00000356646:N156K;ENSP00000263525:N156K|.	ENSP00000263525:N156K|.	N|R	-|-	3|1	2|0	TNR|TNR	173642006|173642006	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.091000|0.091000	0.18340|0.18340	0.729000|0.729000	0.26028|0.26028	-0.022000|-0.022000	0.13986|0.13986	-1.036000|-1.036000	0.02392|0.02392	AAC|CGC		0.627	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		17	81	1	0	0.000958276	0.007413	0.00122296	17	81				
CEP350	9857	broad.mit.edu	37	1	179989900	179989900	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:179989900G>T	ENST00000367607.3	+	12	3409	c.2991G>T	c.(2989-2991)gaG>gaT	p.E997D		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	997					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E997D(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGAAGAAGAGGGAGACCAGG	0.418																																							uc001gnt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2989-2991)GAG>GAT		centrosome-associated protein 350							89.0	99.0	95.0					1																	179989900		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179989900G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2991G>T	1.37:g.179989900G>T	ENSP00000356579:p.Glu997Asp					CEP350_uc009wxl.2_Missense_Mutation_p.E996D|CEP350_uc001gnu.2_Missense_Mutation_p.E831D	p.E997D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	3374	+			997					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.2991G>T	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992955	0.35131	.	.	ENSG00000135837	ENST00000367607	T	0.22336	1.96	6.02	-3.69	0.04450	.	0.000000	0.46758	D	0.000271	T	0.14313	0.0346	N	0.20986	0.625	0.23747	N	0.996952	P;P	0.43750	0.816;0.461	B;B	0.43950	0.197;0.437	T	0.20472	-1.0274	9	.	.	.	.	14.8754	0.70491	0.6164:0.0:0.3836:0.0	.	997;997	E7EU22;Q5VT06	.;CE350_HUMAN	D	997	ENSP00000356579:E997D	.	E	+	3	2	CEP350	178256523	0.000000	0.05858	0.081000	0.20488	0.769000	0.43574	-1.837000	0.01689	-0.559000	0.06110	0.655000	0.94253	GAG		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		26	160	1	0	1.55469e-16	0.00333	2.65979e-16	26	160				
BRINP3	339479	broad.mit.edu	37	1	190067362	190067362	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:190067362T>A	ENST00000367462.3	-	8	2318	c.2087A>T	c.(2086-2088)cAg>cTg	p.Q696L	BRINP3_ENST00000534846.1_Missense_Mutation_p.Q594L	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	696					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q696L(1)									TGCTGAATCCTGGGATCCCTG	0.463																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2086-2088)CAG>CTG		family with sequence similarity 5, member C							103.0	102.0	102.0					1																	190067362		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067362T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2087A>T	1.37:g.190067362T>A	ENSP00000356432:p.Gln696Leu					FAM5C_uc010pot.1_Missense_Mutation_p.Q594L	p.Q696L	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2319	-	Prostate(682;0.198)		696					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.2087A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567057	0.65651	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.24350	2.11;1.86	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.56968	0.978;0.963	P;P	0.53722	0.733;0.546	T	0.42120	-0.9470	10	0.87932	D	0	.	13.9511	0.64118	0.0:0.0:0.0:1.0	.	594;696	B7Z260;Q76B58	.;FAM5C_HUMAN	L	696;594	ENSP00000356432:Q696L;ENSP00000438022:Q594L	ENSP00000356432:Q696L	Q	-	2	0	FAM5C	188333985	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.208000	0.72165	2.176000	0.68965	0.528000	0.53228	CAG		0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		45	99	0	0	0	0.002222	0	45	99				
CFH	3075	broad.mit.edu	37	1	196696041	196696041	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:196696041G>T	ENST00000367429.4	+	14	2447	c.2207G>T	c.(2206-2208)gGa>gTa	p.G736V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	736	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)	p.G736V(1)		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						TGTATTCATGGAGTATGGACC	0.353																																							uc001gtj.3		NA																	1	Substitution - Missense(1)	p.G736G(1)	lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(2206-2208)GGA>GTA		complement factor H isoform a precursor							101.0	100.0	100.0					1																	196696041		2203	4299	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196696041G>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.2207G>T	1.37:g.196696041G>T	ENSP00000356399:p.Gly736Val						p.G736V	NM_000186	NP_000177	P08603	CFAH_HUMAN			14	2447	+			736			Sushi 12.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2207G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503570	0.44558	.	.	ENSG00000000971	ENST00000367429	T	0.72615	-0.67	5.6	5.6	0.85130	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.88291	0.6397	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91047	0.4875	9	0.87932	D	0	.	15.1081	0.72336	0.0:0.0:1.0:0.0	.	736	P08603	CFAH_HUMAN	V	736	ENSP00000356399:G736V	ENSP00000356399:G736V	G	+	2	0	CFH	194962664	1.000000	0.71417	0.672000	0.29872	0.008000	0.06430	4.851000	0.62896	2.637000	0.89404	0.655000	0.94253	GGA		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		20	87	1	0	0.000175454	0.001523	0.000228054	20	87				
F13B	2165	broad.mit.edu	37	1	197031046	197031046	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:197031046A>G	ENST00000367412.1	-	3	362	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	107	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.L107L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ATTTTATACAATAACTTTACA	0.368																																							uc001gtt.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(319-321)TTG>CTG		coagulation factor XIII B subunit precursor							98.0	85.0	90.0					1																	197031046		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197031046A>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.319T>C	1.37:g.197031046A>G							p.L107L	NM_001994	NP_001985	P05160	F13B_HUMAN			3	363	-			107			Sushi 2.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.319T>C	CCDS1388.1																																																																																				0.368	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		10	62	0	0	0	0.008291	0	10	62				
CRB1	23418	broad.mit.edu	37	1	197326027	197326027	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:197326027G>A	ENST00000367400.3	+	5	1190	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	CRB1_ENST00000538660.1_Missense_Mutation_p.G352E|CRB1_ENST00000367399.2_Missense_Mutation_p.G240E|CRB1_ENST00000535699.1_Missense_Mutation_p.G283E|CRB1_ENST00000543483.1_Missense_Mutation_p.G51E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	352	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	p.G352E(1)		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						CAGTCCAATGGGGAATGTGTG	0.473																																							uc001gtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1054-1056)GGG>GAG		crumbs homolog 1 precursor							162.0	140.0	148.0					1																	197326027		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197326027G>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.1055G>A	1.37:g.197326027G>A	ENSP00000356370:p.Gly352Glu					CRB1_uc010poz.1_Missense_Mutation_p.G283E|CRB1_uc001gty.1_Missense_Mutation_p.G352E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G240E|CRB1_uc010ppb.1_Missense_Mutation_p.G352E|CRB1_uc010ppc.1_RNA	p.G352E	NM_201253	NP_957705	P82279	CRUM1_HUMAN			5	1190	+			352			Extracellular (Potential).|EGF-like 9.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1055G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035440	0.54896	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.18	5.18	0.71444	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99086	0.9686	H	0.97940	4.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.988;1.0;0.996;0.994	D	0.99075	1.0835	9	0.87932	D	0	.	15.967	0.79984	0.0:0.0:1.0:0.0	.	352;283;240;352;377	B7Z5T2;F5H0L2;P82279-3;P82279;Q59H36	.;.;.;CRUM1_HUMAN;.	E	283;352;352;240;51	ENSP00000438786:G283E;ENSP00000438091:G352E;ENSP00000356370:G352E;ENSP00000356369:G240E;ENSP00000439579:G51E	ENSP00000356369:G240E	G	+	2	0	CRB1	195592650	1.000000	0.71417	0.242000	0.24170	0.028000	0.11728	4.086000	0.57664	2.558000	0.86282	0.557000	0.71058	GGG		0.473	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	87	0	0	0	0.001168	0	6	87				
CAMSAP2	23271	broad.mit.edu	37	1	200827089	200827089	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:200827089A>G	ENST00000236925.4	+	18	4421	c.4372A>G	c.(4372-4374)Act>Gct	p.T1458A	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.T1447A|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T1431A			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1458	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.T1447A(1)									ACCCGCTAAAACTTTATCTGC	0.373																																							uc001gvl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(4372-4374)ACT>GCT		calmodulin regulated spectrin-associated protein							87.0	95.0	93.0					1																	200827089		2203	4300	6503	SO:0001583	missense	23271					cytoplasm|microtubule	protein binding	g.chr1:200827089A>G	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4372A>G	1.37:g.200827089A>G	ENSP00000236925:p.Thr1458Ala					CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.T1447A|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.T1431A	p.T1458A	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			18	4642	+			1458			CKK.		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37	c.4372A>G		.	.	.	.	.	.	.	.	.	.	A	18.78	3.697890	0.68386	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.18657	2.2;2.2;2.21	5.34	5.34	0.76211	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.66378	2.025	0.80722	D	1	B;D;D	0.62365	0.286;0.967;0.991	P;D;D	0.77004	0.641;0.989;0.989	T	0.29941	-0.9995	10	0.42905	T	0.14	-28.514	15.6076	0.76685	1.0:0.0:0.0:0.0	.	1431;1458;1447	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	A	1447;1431;1458	ENSP00000351684:T1447A;ENSP00000416800:T1431A;ENSP00000236925:T1458A	ENSP00000236925:T1458A	T	+	1	0	CAMSAP1L1	199093712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.268000	0.95675	2.148000	0.66965	0.460000	0.39030	ACT		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		64	166	0	0	0	0.00361	0	64	166				
ATP2B4	493	broad.mit.edu	37	1	203652479	203652479	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:203652479G>T	ENST00000357681.5	+	2	1269	c.146G>T	c.(145-147)gGa>gTa	p.G49V	ATP2B4_ENST00000367218.3_Missense_Mutation_p.G49V|ATP2B4_ENST00000367219.3_Missense_Mutation_p.G49V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.G49V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.G49V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	49					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.G49V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCCACTATGGAGGTGTACAG	0.512																																							uc001gzw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(145-147)GGA>GTA		plasma membrane calcium ATPase 4 isoform 4b							138.0	125.0	129.0					1																	203652479		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203652479G>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.146G>T	1.37:g.203652479G>T	ENSP00000350310:p.Gly49Val					ATP2B4_uc001gzv.2_Missense_Mutation_p.G49V|ATP2B4_uc009xaq.2_Missense_Mutation_p.G49V	p.G49V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	1030	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		49			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.146G>T	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	36	5.625738	0.96671	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17	5.93	5.93	0.95920	ATPase, P-type cation-transporter, N-terminal (2);	0.000000	0.53938	D	0.000052	D	0.92708	0.7682	H	0.97491	4.015	0.80722	D	1	D;P;D	0.89917	0.987;0.861;1.0	P;P;D	0.87578	0.867;0.621;0.998	D	0.94655	0.7843	10	0.87932	D	0	-17.8451	17.8347	0.88692	0.0:0.0:1.0:0.0	.	49;49;49	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	49	ENSP00000350310:G49V;ENSP00000356187:G49V;ENSP00000356188:G49V;ENSP00000375816:G49V;ENSP00000340930:G49V	ENSP00000340930:G49V	G	+	2	0	ATP2B4	201919102	1.000000	0.71417	0.605000	0.28930	0.944000	0.59088	7.361000	0.79497	2.814000	0.96858	0.655000	0.94253	GGA		0.512	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		18	132	1	0	2.48551e-13	0.00499	4.1079e-13	18	132				
FAIM3	9214	broad.mit.edu	37	1	207087253	207087253	+	Missense_Mutation	SNP	C	C	T	rs373086444		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:207087253C>T	ENST00000367091.3	-	2	367	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	FAIM3_ENST00000420007.2_Missense_Mutation_p.R75Q|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	75	Ig-like.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R75Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CAGAGTAACTCGGCCCTTGTA	0.517																																							uc001hey.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(223-225)CGA>CAA		Fas apoptotic inhibitory molecule 3 isoform a		C	GLN/ARG,GLN/ARG,	0,4406		0,0,2203	156.0	141.0	146.0		224,224,	5.3	0.2	1		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron	FAIM3	NM_001193338.1,NM_005449.4,NM_001142473.1	43,43,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	75/307,75/391,	207087253	1,13005	2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207087253C>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.224G>A	1.37:g.207087253C>T	ENSP00000356058:p.Arg75Gln					FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Silent_p.P18P|FAIM3_uc010psb.1_Missense_Mutation_p.R75Q	p.R75Q	NM_005449	NP_005440	O60667	FAIM3_HUMAN			2	403	-	Breast(84;0.201)		75			Ig-like.|Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.224G>A	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.351222	0.82132	0.0	1.16E-4	ENSG00000162894	ENST00000367091;ENST00000420007;ENST00000525793;ENST00000529560;ENST00000530505	T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91	5.28	5.28	0.74379	Immunoglobulin subtype (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000651	T	0.38268	0.1034	M	0.87682	2.9	0.21064	N	0.999793	D	0.89917	1.0	D	0.91635	0.999	T	0.32134	-0.9918	10	0.66056	D	0.02	-14.7412	14.4357	0.67279	0.0:1.0:0.0:0.0	.	75	O60667	FAIM3_HUMAN	Q	75;75;75;75;106	ENSP00000356058:R75Q;ENSP00000403356:R75Q;ENSP00000432936:R75Q;ENSP00000437331:R75Q;ENSP00000436316:R106Q	ENSP00000356058:R75Q	R	-	2	0	FAIM3	205153876	0.955000	0.32602	0.221000	0.23827	0.011000	0.07611	3.610000	0.54125	2.467000	0.83353	0.655000	0.94253	CGA		0.517	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		15	223	0	0	0	0.004007	0	15	223				
IARS2	55699	broad.mit.edu	37	1	220287726	220287726	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:220287726G>C	ENST00000302637.5	+	12	1654	c.1550G>C	c.(1549-1551)cGg>cCg	p.R517P	IARS2_ENST00000366922.1_Missense_Mutation_p.R445P	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	517					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.R517P(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGGACAGGCGGCCATATTGG	0.383																																							uc001hmc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1549-1551)CGG>CCG		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						180.0	179.0	179.0					1																	220287726		2203	4300	6503	SO:0001583	missense	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220287726G>C	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1550G>C	1.37:g.220287726G>C	ENSP00000303279:p.Arg517Pro						p.R517P	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	12	1654	+			517					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	c.1550G>C	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670423	0.88348	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.45668	0.89;0.89	5.01	5.01	0.66863	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.79992	0.4542	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88783	0.3272	10	0.87932	D	0	-9.0525	18.6643	0.91483	0.0:0.0:1.0:0.0	.	517	Q9NSE4	SYIM_HUMAN	P	445;517	ENSP00000355889:R445P;ENSP00000303279:R517P	ENSP00000303279:R517P	R	+	2	0	IARS2	218354349	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	9.102000	0.94226	2.469000	0.83416	0.655000	0.94253	CGG		0.383	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		44	111	0	0	0	0.002522	0	44	111				
SDE2	163859	broad.mit.edu	37	1	226187006	226187006	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:226187006T>A	ENST00000272091.7	-	1	26	c.8A>T	c.(7-9)gAg>gTg	p.E3V		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	3								p.E3V(2)									CGCCGCGGCCTCCGCCATGTC	0.677																																							uc001hpu.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(7-9)GAG>GTG		hypothetical protein LOC163859							27.0	35.0	33.0					1																	226187006		2017	4158	6175	SO:0001583	missense	163859							g.chr1:226187006T>A	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.8A>T	1.37:g.226187006T>A	ENSP00000272091:p.Glu3Val					C1orf55_uc001hpv.2_Missense_Mutation_p.E3V	p.E3V	NM_152608	NP_689821	Q6IQ49	CA055_HUMAN			1	61	-	Breast(184;0.197)		3					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.8A>T	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626531	0.46840	.	.	ENSG00000143751	ENST00000272091;ENST00000366818	T	0.53206	0.63	4.95	1.09	0.20402	.	0.363089	0.26700	N	0.022941	T	0.42381	0.1200	M	0.67953	2.075	0.80722	D	1	P;P	0.48016	0.904;0.845	B;B	0.43103	0.408;0.203	T	0.35425	-0.9789	10	0.72032	D	0.01	-13.5241	5.1691	0.15101	0.0:0.0942:0.3584:0.5474	.	3;3	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	V	3	ENSP00000272091:E3V	ENSP00000272091:E3V	E	-	2	0	C1orf55	224253629	0.269000	0.24143	0.554000	0.28268	0.001000	0.01503	0.242000	0.18087	0.446000	0.26666	-0.256000	0.11100	GAG		0.677	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		12	44	0	0	0	0.001368	0	12	44				
URB2	9816	broad.mit.edu	37	1	229771885	229771885	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:229771885C>G	ENST00000258243.2	+	4	1661	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	509						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Q509E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCTCCAAGTCAGATCCTGGA	0.582																																							uc001hts.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1525-1527)CAG>GAG		URB2 ribosome biogenesis 2 homolog							126.0	127.0	127.0					1																	229771885		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771885C>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1525C>G	1.37:g.229771885C>G	ENSP00000258243:p.Gln509Glu					URB2_uc009xfd.1_Missense_Mutation_p.Q509E	p.Q509E	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	1661	+			509					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1525C>G	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801222	0.70567	.	.	ENSG00000135763	ENST00000258243	T	0.35973	1.28	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.57648	-0.7775	9	.	.	.	-21.3949	19.463	0.94927	0.0:1.0:0.0:0.0	.	509	Q14146	URB2_HUMAN	E	509	ENSP00000258243:Q509E	.	Q	+	1	0	URB2	227838508	1.000000	0.71417	0.964000	0.40570	0.416000	0.31233	7.307000	0.78920	2.684000	0.91462	0.650000	0.86243	CAG		0.582	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	171	0	0	0	0.000602	0	5	171				
COG2	22796	broad.mit.edu	37	1	230814766	230814766	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:230814766G>A	ENST00000366669.4	+	10	1249	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	COG2_ENST00000546013.1_Silent_p.K67K|COG2_ENST00000535166.1_Silent_p.K262K|COG2_ENST00000366668.3_Silent_p.K378K|COG2_ENST00000534989.1_Silent_p.K319K	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	378					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.K378K(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTTCAATAAGAAGTGGAACT	0.443																																							uc001htw.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1132-1134)AAG>AAA		component of oligomeric golgi complex 2 isoform							113.0	113.0	113.0					1																	230814766		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230814766G>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1134G>A	1.37:g.230814766G>A						COG2_uc001htx.2_Silent_p.K378K|COG2_uc010pwc.1_Silent_p.K251K	p.K378K	NM_007357	NP_031383	Q14746	COG2_HUMAN			10	1285	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	378					Q86U99	Silent	SNP	ENST00000366669.4	37	c.1134G>A	CCDS1584.1																																																																																				0.443	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		4	71	0	0	0	0.000248	0	4	71				
RYR2	6262	broad.mit.edu	37	1	237551419	237551419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:237551419C>G	ENST00000366574.2	+	10	1026	c.709C>G	c.(709-711)Ctg>Gtg	p.L237V	RYR2_ENST00000542537.1_Missense_Mutation_p.L221V|RYR2_ENST00000360064.6_Missense_Mutation_p.L235V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	237	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.L235V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCAGGTTGCTGCATGGACA	0.488																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(709-711)CTG>GTG		cardiac muscle ryanodine receptor							124.0	121.0	122.0					1																	237551419		2048	4203	6251	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237551419C>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.709C>G	1.37:g.237551419C>G	ENSP00000355533:p.Leu237Val						p.L237V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		10	829	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	237			Cytoplasmic (By similarity).|MIR 3.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.709C>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073586	0.55646	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91351	-2.83;-2.83;-2.83	5.33	5.33	0.75918	MIR motif (2);MIR (2);	0.000000	0.47455	D	0.000231	D	0.88403	0.6427	N	0.22421	0.69	0.80722	D	1	D	0.53885	0.963	P	0.54499	0.754	D	0.88969	0.3399	10	0.87932	D	0	.	10.0923	0.42453	0.0:0.9084:0.0:0.0916	.	237	Q92736	RYR2_HUMAN	V	237;235;221	ENSP00000355533:L237V;ENSP00000353174:L235V;ENSP00000443798:L221V	ENSP00000353174:L235V	L	+	1	2	RYR2	235618042	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.828000	0.39111	2.498000	0.84270	0.650000	0.86243	CTG		0.488	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	34	0	0	0	0.00308	0	6	34				
RYR2	6262	broad.mit.edu	37	1	237806644	237806644	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:237806644G>T	ENST00000366574.2	+	48	7556	c.7239G>T	c.(7237-7239)aaG>aaT	p.K2413N	RYR2_ENST00000542537.1_Missense_Mutation_p.K2397N|RYR2_ENST00000360064.6_Missense_Mutation_p.K2411N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2413	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.K2411N(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCCGGGAAGGGAGAAGCCA	0.413																																							uc001hyl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7237-7239)AAG>AAT		cardiac muscle ryanodine receptor							195.0	183.0	187.0					1																	237806644		1870	4094	5964	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237806644G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7239G>T	1.37:g.237806644G>T	ENSP00000355533:p.Lys2413Asn						p.K2413N	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7359	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2413			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7239G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413091	0.62511	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98313	-4.86;-4.86;-4.86	5.6	0.516	0.17019	.	0.000000	0.64402	D	0.000004	D	0.98598	0.9531	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98164	1.0448	10	0.87932	D	0	-14.667	9.2498	0.37549	0.5682:0.0:0.4318:0.0	.	2413	Q92736	RYR2_HUMAN	N	2413;2411;2397	ENSP00000355533:K2413N;ENSP00000353174:K2411N;ENSP00000443798:K2397N	ENSP00000353174:K2411N	K	+	3	2	RYR2	235873267	1.000000	0.71417	0.945000	0.38365	0.917000	0.54804	1.537000	0.36083	0.138000	0.18790	-0.145000	0.13849	AAG		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		51	156	1	0	1.39843e-22	0.00361	2.52195e-22	51	156				
OR6F1	343169	broad.mit.edu	37	1	247875386	247875386	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:247875386G>T	ENST00000302084.2	-	1	719	c.672C>A	c.(670-672)acC>acA	p.T224T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T224T(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCTGAGGATGGTGCTGATGA	0.527																																							uc001idj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(670-672)ACC>ACA		olfactory receptor, family 6, subfamily F,							128.0	114.0	119.0					1																	247875386		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875386G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.672C>A	1.37:g.247875386G>T							p.T224T	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	672	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		224			Cytoplasmic (Potential).		B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.672C>A	CCDS31095.1																																																																																				0.527	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		29	106	1	0	9.39395e-14	0.00632	1.57311e-13	29	106				
OR2M1P	388762	broad.mit.edu	37	1	248285818	248285818	+	IGR	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248285818T>G								OR2L13 (21594 upstream) : OR2M5 (22631 downstream)																							CATCAATATTTGAAAAGGTTA	0.408																																							uc001idy.1		NA																	0					0						c.(379-381)TTT>TTG		RecName: Full=Olfactory receptor 2M5;																																				SO:0001628	intergenic_variant	388762							g.chr1:248285818T>G																													1.37:g.248285818T>G							p.F127L	NR_002141						1	381	+									Missense_Mutation	SNP		37	c.381T>G																																																																																				0	0.408									52	271	0	0	0	0.00361	0	52	271				
OR2M3	127062	broad.mit.edu	37	1	248366686	248366686	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248366686C>A	ENST00000456743.1	+	1	355	c.317C>A	c.(316-318)tCa>tAa	p.S106*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S106*(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTATACATCACTGCTTGGC	0.473																																							uc010pzg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(316-318)TCA>TAA		olfactory receptor, family 2, subfamily M,							262.0	265.0	264.0					1																	248366686		2203	4300	6503	SO:0001587	stop_gained	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366686C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.317C>A	1.37:g.248366686C>A	ENSP00000389625:p.Ser106*						p.S106*	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	317	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		106			Helical; Name=3; (Potential).		B9EH06|Q6IEY0	Nonsense_Mutation	SNP	ENST00000456743.1	37	c.317C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333605	0.41297	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.55	1.6	0.23607	.	0.376135	0.15495	U	0.259352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	3.3662	0.07204	0.0:0.4941:0.0:0.5059	.	.	.	.	X	106	.	ENSP00000389625:S106X	S	+	2	0	OR2M3	246433309	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.229000	0.09098	1.425000	0.47237	0.405000	0.27470	TCA		0.473	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		65	506	1	0	1.31726e-23	0.00361	2.38919e-23	65	506				
OR2T4	127074	broad.mit.edu	37	1	248524995	248524995	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248524995A>G	ENST00000366475.1	+	1	113	c.113A>G	c.(112-114)cAc>cGc	p.H38R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H38R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			ATGGCCAACCACACTGGATGG	0.488																																							uc001ieh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(112-114)CAC>CGC		olfactory receptor, family 2, subfamily T,							126.0	110.0	115.0					1																	248524995		2202	4269	6471	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524995A>G	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.113A>G	1.37:g.248524995A>G	ENSP00000355431:p.His38Arg						p.H38R	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	113	+	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)		38			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.113A>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	A	2.140	-0.396964	0.04899	.	.	ENSG00000196944	ENST00000366475	T	0.03580	3.88	1.6	1.6	0.23607	.	0.304331	0.23585	N	0.046620	T	0.02304	0.0071	N	0.17278	0.47	0.19775	N	0.999955	B	0.02656	0.0	B	0.04013	0.001	T	0.46105	-0.9215	10	0.27785	T	0.31	.	7.1733	0.25730	1.0:0.0:0.0:0.0	.	38	Q8NH00	OR2T4_HUMAN	R	38	ENSP00000355431:H38R	ENSP00000355431:H38R	H	+	2	0	OR2T4	246591618	0.001000	0.12720	0.084000	0.20598	0.038000	0.13279	0.201000	0.17276	0.444000	0.26612	0.248000	0.18094	CAC		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		18	122	0	0	0	0.007413	0	18	122				
OR2G6	391211	broad.mit.edu	37	1	248685555	248685555	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:248685555G>T	ENST00000343414.4	+	1	640	c.608G>T	c.(607-609)aGt>aTt	p.S203I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S203I(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGTGGCCAGTGTAGTCTTT	0.473																																							uc001ien.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(607-609)AGT>ATT		olfactory receptor, family 2, subfamily G,							130.0	136.0	134.0					1																	248685555		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685555G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.608G>T	1.37:g.248685555G>T	ENSP00000341291:p.Ser203Ile						p.S203I	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	608	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	203			Helical; Name=5; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.608G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	13.05	2.122086	0.37436	.	.	ENSG00000188558	ENST00000343414	T	0.38240	1.15	3.68	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000075	T	0.50429	0.1615	M	0.69523	2.12	0.09310	N	1	D	0.71674	0.998	D	0.70935	0.971	T	0.27773	-1.0064	10	0.66056	D	0.02	.	5.5081	0.16866	0.1013:0.0:0.5682:0.3305	.	203	Q5TZ20	OR2G6_HUMAN	I	203	ENSP00000341291:S203I	ENSP00000341291:S203I	S	+	2	0	OR2G6	246752178	0.000000	0.05858	0.177000	0.23020	0.827000	0.46813	-1.193000	0.03049	0.745000	0.32763	0.400000	0.26472	AGT		0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		35	86	1	0	1.99505e-19	0.002445	3.55737e-19	35	86				
TAF3	83860	broad.mit.edu	37	10	8019213	8019213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:8019213G>T	ENST00000344293.5	+	4	2448	c.2242G>T	c.(2242-2244)Gaa>Taa	p.E748*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	748					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)	p.E748*(1)		NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GATAAAAGTGGAACCAGTCGC	0.448																																							uc010qbd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(2242-2244)GAA>TAA		RNA polymerase II transcription factor TAFII140							77.0	78.0	77.0					10																	8019213		1854	4109	5963	SO:0001587	stop_gained	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8019213G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.2242G>T	10.37:g.8019213G>T	ENSP00000340271:p.Glu748*						p.E748*	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			4	2242	+			748					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	ENST00000344293.5	37	c.2242G>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	G	41	8.580851	0.98872	.	.	ENSG00000165632	ENST00000344293	.	.	.	6.05	6.05	0.98169	.	0.167695	0.40064	N	0.001187	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-32.8701	20.6087	0.99469	0.0:0.0:1.0:0.0	.	.	.	.	X	748	.	ENSP00000340271:E748X	E	+	1	0	TAF3	8059219	1.000000	0.71417	0.999000	0.59377	0.555000	0.35460	5.659000	0.68010	2.866000	0.98385	0.650000	0.86243	GAA		0.448	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		13	54	1	0	1.36491e-13	0.001855	2.27965e-13	13	54				
ITGA8	8516	broad.mit.edu	37	10	15646286	15646286	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:15646286C>A	ENST00000378076.3	-	20	2392	c.2039G>T	c.(2038-2040)gGg>gTg	p.G680V	ITGA8_ENST00000477064.1_5'Flank	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	680					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.G680V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGCTCCTTCCCCTTCATTTCT	0.363																																							uc001ioc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(2038-2040)GGG>GTG		integrin, alpha 8 precursor							204.0	164.0	178.0					10																	15646286		2203	4299	6502	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15646286C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2039G>T	10.37:g.15646286C>A	ENSP00000367316:p.Gly680Val					ITGA8_uc010qcb.1_Missense_Mutation_p.G665V	p.G680V	NM_003638	NP_003629	P53708	ITA8_HUMAN			20	2039	-			680			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2039G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696056	0.88830	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.76709	-1.04	5.65	5.65	0.86999	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	D	0.90577	0.7046	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91434	0.5168	10	0.87932	D	0	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	665;680	F5H818;P53708	.;ITA8_HUMAN	V	680;665	ENSP00000367316:G680V	ENSP00000367316:G680V	G	-	2	0	ITGA8	15686292	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.875000	0.75551	2.827000	0.97445	0.650000	0.86243	GGG		0.363	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		14	67	1	0	1.5842e-08	0.001855	2.42808e-08	14	67				
PTF1A	256297	broad.mit.edu	37	10	23482676	23482676	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:23482676A>G	ENST00000376504.3	+	2	1032	c.828A>G	c.(826-828)ctA>ctG	p.L276L		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	276					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.L276L(1)		endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						TCCCTCCCCTAGCAGGACACT	0.507																																							uc001irp.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(826-828)CTA>CTG		pancreas specific transcription factor, 1a							164.0	186.0	178.0					10																	23482676		2203	4300	6503	SO:0001819	synonymous_variant	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482676A>G	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.828A>G	10.37:g.23482676A>G							p.L276L	NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN			2	828	+			276					Q9HC25	Silent	SNP	ENST00000376504.3	37	c.828A>G	CCDS7143.1																																																																																				0.507	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		49	218	0	0	0	0.00361	0	49	218				
GPR158	57512	broad.mit.edu	37	10	25887611	25887611	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:25887611T>A	ENST00000376351.3	+	11	3415	c.3056T>A	c.(3055-3057)gTg>gAg	p.V1019E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1019					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)	p.V1019E(1)		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						CCTGGTCCTGTGCCTTCAGAA	0.473																																							uc001isj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3055-3057)GTG>GAG		G protein-coupled receptor 158 precursor							59.0	59.0	59.0					10																	25887611		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887611T>A	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.3056T>A	10.37:g.25887611T>A	ENSP00000365529:p.Val1019Glu					GPR158_uc001isk.2_Missense_Mutation_p.V394E	p.V1019E	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3116	+			1019			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3056T>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881334	0.33255	.	.	ENSG00000151025	ENST00000376351	T	0.33865	1.39	5.41	2.91	0.33838	.	0.308249	0.26753	N	0.022663	T	0.29028	0.0721	L	0.54323	1.7	0.30324	N	0.787315	B	0.28820	0.224	B	0.21546	0.035	T	0.22138	-1.0225	10	0.12103	T	0.63	.	12.4499	0.55671	0.0:0.0:0.3908:0.6091	.	1019	Q5T848	GP158_HUMAN	E	1019	ENSP00000365529:V1019E	ENSP00000365529:V1019E	V	+	2	0	GPR158	25927617	1.000000	0.71417	0.990000	0.47175	0.981000	0.71138	2.783000	0.47766	0.867000	0.35654	0.533000	0.62120	GTG		0.473	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	71	0	0	0	0.001984	0	7	71				
RBP3	5949	broad.mit.edu	37	10	48389623	48389623	+	Missense_Mutation	SNP	C	C	T	rs201678977		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:48389623C>T	ENST00000224600.4	-	1	1368	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	419	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.E419K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CGGATAGCCTCGTCCTCAGGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		18570	0.001		0.0	False		,,,				2504	0.0						uc001jez.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(1255-1257)GAG>AAG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						53.0	49.0	50.0					10																	48389623		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389623C>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1255G>A	10.37:g.48389623C>T	ENSP00000224600:p.Glu419Lys						p.E419K	NM_002900	NP_002891	P10745	RET3_HUMAN			1	1369	-			419			4 X approximate tandem repeats.|2.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1255G>A	CCDS7218.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.2	4.719601	0.89205	.	.	ENSG00000107618	ENST00000224600	T	0.65732	-0.17	5.43	5.43	0.79202	Interphotoreceptor retinol-binding (1);	0.373267	0.29646	N	0.011571	T	0.80412	0.4618	M	0.85630	2.765	0.42359	D	0.992401	D	0.61080	0.989	P	0.61722	0.893	D	0.83923	0.0302	10	0.87932	D	0	-20.9142	18.2231	0.89907	0.0:1.0:0.0:0.0	.	419	P10745	RET3_HUMAN	K	419	ENSP00000224600:E419K	ENSP00000224600:E419K	E	-	1	0	RBP3	48009629	0.123000	0.22298	0.062000	0.19696	0.885000	0.51271	1.548000	0.36201	2.571000	0.86741	0.561000	0.74099	GAG		0.637	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		5	43	0	0	0	0.001168	0	5	43				
HERC4	26091	broad.mit.edu	37	10	69714383	69714383	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:69714383T>A	ENST00000395198.3	-	20	2577	c.2330A>T	c.(2329-2331)gAa>gTa	p.E777V	HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.E777V|HERC4_ENST00000277817.6_Missense_Mutation_p.E667V|HERC4_ENST00000373700.4_Missense_Mutation_p.E769V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	777	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E777V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCTGGAATCTTCATAATACCT	0.378																																							uc001jng.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(2329-2331)GAA>GTA		hect domain and RLD 4 isoform a							118.0	114.0	115.0					10																	69714383		2203	4300	6503	SO:0001583	missense	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69714383T>A	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2330A>T	10.37:g.69714383T>A	ENSP00000378624:p.Glu777Val					HERC4_uc009xpq.2_Missense_Mutation_p.E310V|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.E769V|HERC4_uc009xpr.2_Missense_Mutation_p.E777V|HERC4_uc001jni.3_Missense_Mutation_p.E513V	p.E777V	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN			20	2641	-			777			HECT.		Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Missense_Mutation	SNP	ENST00000395198.3	37	c.2330A>T	CCDS41533.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.030955	0.93575	.	.	ENSG00000148634	ENST00000277817;ENST00000412272;ENST00000395198;ENST00000373700	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.95	5.95	0.96441	HECT (4);	0.000000	0.85682	D	0.000000	T	0.71736	0.3375	M	0.85197	2.74	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.991;0.993;0.991;0.993	P;D;D;D;D	0.67103	0.9;0.931;0.949;0.915;0.949	T	0.76919	-0.2781	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	777;667;627;769;777	Q5GLZ8-3;Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;.;HERC4_HUMAN	V	667;777;777;769	ENSP00000277817:E667V;ENSP00000416504:E777V;ENSP00000378624:E777V;ENSP00000362804:E769V	ENSP00000277817:E667V	E	-	2	0	HERC4	69384389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.869000	0.87170	2.279000	0.76181	0.533000	0.62120	GAA		0.378	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		13	105	0	0	0	0.001855	0	13	105				
RUFY2	55680	broad.mit.edu	37	10	70154089	70154089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:70154089G>C	ENST00000602465.1	-	5	618	c.518C>G	c.(517-519)tCa>tGa	p.S173*	RUFY2_ENST00000342616.4_Nonsense_Mutation_p.S173*|RUFY2_ENST00000399200.2_Nonsense_Mutation_p.S139*|RUFY2_ENST00000454950.2_Nonsense_Mutation_p.S115*|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000388768.2_Nonsense_Mutation_p.S208*			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	222	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S208*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ACTTACTTGTGAGTCTAAATC	0.433																																							uc001job.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(622-624)TCA>TGA		RUN and FYVE domain-containing 2 isoform a							185.0	176.0	179.0					10																	70154089		2039	4204	6243	SO:0001587	stop_gained	55680					nucleus	metal ion binding	g.chr10:70154089G>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.518C>G	10.37:g.70154089G>C	ENSP00000473462:p.Ser173*					RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Nonsense_Mutation_p.S139*|RUFY2_uc010qiw.1_Nonsense_Mutation_p.S115*|RUFY2_uc001jod.1_Nonsense_Mutation_p.S173*|RUFY2_uc009xpv.1_Nonsense_Mutation_p.S56*|RUFY2_uc001joe.1_Nonsense_Mutation_p.S173*	p.S208*	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN			5	950	-			222					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Nonsense_Mutation	SNP	ENST00000602465.1	37	c.623C>G		.	.	.	.	.	.	.	.	.	.	G	36	5.632875	0.96682	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000454950;ENST00000342616	.	.	.	5.37	5.37	0.77165	.	0.063684	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.3116	0.94189	0.0:0.0:1.0:0.0	.	.	.	.	X	208;139;115;173	.	ENSP00000341727:S173X	S	-	2	0	RUFY2	69824095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.646000	0.98474	2.808000	0.96608	0.650000	0.86243	TCA		0.433	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		8	73	0	0	0	0.006214	0	8	73				
PIPSL	266971	broad.mit.edu	37	10	95720197	95720197	+	RNA	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:95720197T>A	ENST00000480546.1	-	0	1100					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TGCCACCCCGTCGAGCCTCTC	0.517																																							uc009xuj.2		NA																	0					0						c.(955-957)CGA>CGT		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																						266971							g.chr10:95720197T>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720197T>A							p.R319R	NR_002319						1	1476	-								Q6NUK8	Silent	SNP	ENST00000480546.1	37	c.957A>T																																																																																					0.517	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		7	66	0	0	0	0.00308	0	7	66				
PIK3AP1	118788	broad.mit.edu	37	10	98411383	98411383	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:98411383C>T	ENST00000339364.5	-	5	857	c.738G>A	c.(736-738)ctG>ctA	p.L246L	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Silent_p.L68L	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	246	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)	p.L246L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AATATATCTTCAGAGAAACGT	0.403																																							uc001kmq.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(736-738)CTG>CTA		phosphoinositide-3-kinase adaptor protein 1							70.0	67.0	68.0					10																	98411383		2203	4300	6503	SO:0001819	synonymous_variant	118788					cytoplasm|plasma membrane		g.chr10:98411383C>T	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.738G>A	10.37:g.98411383C>T						PIK3AP1_uc001kmp.2_Silent_p.L68L	p.L246L	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	5	866	-		Colorectal(252;0.0442)	246			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	ENST00000339364.5	37	c.738G>A	CCDS31259.1																																																																																				0.403	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		4	34	0	0	0	0.000248	0	4	34				
PPRC1	23082	broad.mit.edu	37	10	103898672	103898672	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:103898672G>A	ENST00000278070.2	+	4	565	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.E176K	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACCCCCAGAACGTGACCT	0.542																																							uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(526-528)GAA>AAA		peroxisome proliferator-activated receptor							77.0	77.0	77.0					10																	103898672		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898672G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.526G>A	10.37:g.103898672G>A	ENSP00000278070:p.Glu176Lys					PPRC1_uc001kun.2_Missense_Mutation_p.E56K|PPRC1_uc010qqj.1_Missense_Mutation_p.E176K|PPRC1_uc009xxa.2_5'Flank	p.E176K	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	565	+		Colorectal(252;0.122)	176					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.526G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797665	0.70567	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.53206	0.63;0.63	4.74	4.74	0.60224	.	0.464516	0.21951	N	0.066731	T	0.44159	0.1280	L	0.27053	0.805	0.38933	D	0.957989	P;P;P	0.46395	0.805;0.877;0.805	B;P;B	0.47470	0.346;0.548;0.272	T	0.51647	-0.8679	10	0.87932	D	0	.	14.9611	0.71158	0.0:0.0:1.0:0.0	.	176;56;176	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	K	176	ENSP00000278070:E176K;ENSP00000399743:E176K	ENSP00000278070:E176K	E	+	1	0	PPRC1	103888662	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	3.392000	0.52537	2.640000	0.89533	0.561000	0.74099	GAA		0.542	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		7	59	0	0	0	0.00308	0	7	59				
SORCS3	22986	broad.mit.edu	37	10	106960956	106960956	+	Missense_Mutation	SNP	C	C	A	rs145883987		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:106960956C>A	ENST00000369701.3	+	16	2433	c.2206C>A	c.(2206-2208)Cac>Aac	p.H736N	SORCS3_ENST00000369699.4_Missense_Mutation_p.H22N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	736					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.H736N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGGCCGAGACCACTCAGGATC	0.488																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2206-2208)CAC>AAC		VPS10 domain receptor protein SORCS 3 precursor							127.0	111.0	116.0					10																	106960956		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106960956C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2206C>A	10.37:g.106960956C>A	ENSP00000358715:p.His736Asn					SORCS3_uc010qqz.1_RNA	p.H736N	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	16	2433	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	736			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2206C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401740	0.42613	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.29655	1.57;1.56	5.78	3.26	0.37387	VPS10 (1);	0.262147	0.39274	N	0.001406	T	0.10852	0.0265	N	0.02802	-0.49	0.24768	N	0.992887	B	0.02656	0.0	B	0.04013	0.001	T	0.30001	-0.9993	9	.	.	.	.	6.2853	0.21029	0.1457:0.0847:0.0:0.7697	.	736	Q9UPU3	SORC3_HUMAN	N	736;22	ENSP00000358715:H736N;ENSP00000358713:H22N	.	H	+	1	0	SORCS3	106950946	1.000000	0.71417	0.791000	0.31998	0.839000	0.47603	3.137000	0.50562	0.355000	0.24131	-0.355000	0.07637	CAC		0.488	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	103	1	0	7.48243e-07	0.006214	1.08633e-06	9	103				
SMNDC1	10285	broad.mit.edu	37	10	112053973	112053973	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:112053973C>G	ENST00000369603.5	-	6	855	c.652G>C	c.(652-654)Gat>Cat	p.D218H	SMNDC1_ENST00000369592.1_Missense_Mutation_p.D218H	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1	218					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.D218H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		ATAGGTTTATCAGCAATTCCA	0.388																																							uc001kzc.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(652-654)GAT>CAT		survival motor neuron domain containing 1							147.0	143.0	145.0					10																	112053973		2203	4300	6503	SO:0001583	missense	10285				apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding	g.chr10:112053973C>G	AF083385	CCDS7565.1	10q23	2013-01-23			ENSG00000119953	ENSG00000119953		"""Tudor domain containing"""	16900	protein-coding gene	gene with protein product	"""splicing factor 30, survival of motor neuron-related"", ""tudor domain containing 16C"""	603519				9731529, 9817934	Standard	NM_005871		Approved	SPF30, SMNR, TDRD16C	uc001kzc.4	O75940	OTTHUMG00000019036	ENST00000369603.5:c.652G>C	10.37:g.112053973C>G	ENSP00000358616:p.Asp218His					SMNDC1_uc001kzb.2_Missense_Mutation_p.D139H	p.D218H	NM_005871	NP_005862	O75940	SPF30_HUMAN		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)	6	854	-		Breast(234;0.174)	218					B2RA27|D3DRB1|Q5T3K6	Missense_Mutation	SNP	ENST00000369603.5	37	c.652G>C	CCDS7565.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.200463	0.79015	.	.	ENSG00000119953	ENST00000369603;ENST00000369592	D;D	0.87491	-2.26;-2.26	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91199	0.7227	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.90468	0.4451	10	0.48119	T	0.1	-18.2865	20.0855	0.97800	0.0:1.0:0.0:0.0	.	218	O75940	SPF30_HUMAN	H	218	ENSP00000358616:D218H;ENSP00000358605:D218H	ENSP00000358605:D218H	D	-	1	0	SMNDC1	112043963	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.787000	0.85759	2.762000	0.94881	0.655000	0.94253	GAT		0.388	SMNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050325.2	NM_005871		16	100	0	0	0	0.004007	0	16	100				
PRLHR	2834	broad.mit.edu	37	10	120353949	120353949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:120353949G>T	ENST00000369169.1	-	1	807	c.808C>A	c.(808-810)Cgc>Agc	p.R270S	PRLHR_ENST00000239032.2_Missense_Mutation_p.R270S			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	270					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)	p.R270S(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGCCGAGCGCGGTCCCAGTCG	0.677																																							uc001ldp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)CGC>AGC		G protein-coupled receptor 10							22.0	24.0	23.0					10																	120353949		2189	4288	6477	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353949G>T	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.808C>A	10.37:g.120353949G>T	ENSP00000358167:p.Arg270Ser						p.R270S	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	947	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	270			Cytoplasmic (Potential).		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.808C>A	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891539	0.33442	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.39056	1.1;1.1	4.56	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.062988	0.64402	D	0.000007	T	0.39091	0.1065	L	0.52011	1.625	0.31359	N	0.681553	B	0.31290	0.318	B	0.41236	0.351	T	0.40327	-0.9569	10	0.17832	T	0.49	.	9.3325	0.38030	0.0:0.1136:0.6188:0.2675	.	270	P49683	PRLHR_HUMAN	S	270	ENSP00000239032:R270S;ENSP00000358167:R270S	ENSP00000239032:R270S	R	-	1	0	PRLHR	120343939	1.000000	0.71417	1.000000	0.80357	0.295000	0.27426	2.867000	0.48428	1.135000	0.42183	-0.264000	0.10439	CGC		0.677	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		7	28	1	0	8.12818e-05	0.001984	0.000106968	7	28				
MCMBP	79892	broad.mit.edu	37	10	121595096	121595096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:121595096G>C	ENST00000360003.3	-	14	1838	c.1669C>G	c.(1669-1671)Ctt>Gtt	p.L557V	MCMBP_ENST00000369077.3_Missense_Mutation_p.L555V|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	557					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.L557V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AATCTCAAAAGAGTTAGATAA	0.413																																							uc001ler.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1669-1671)CTT>GTT		chromosome 10 open reading frame 119							112.0	109.0	110.0					10																	121595096		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121595096G>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1669C>G	10.37:g.121595096G>C	ENSP00000353098:p.Leu557Val					C10orf119_uc001leq.1_Missense_Mutation_p.L382V|C10orf119_uc001les.1_Missense_Mutation_p.L382V	p.L557V	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	14	1967	-		Lung NSC(174;0.109)|all_lung(145;0.142)	557					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1669C>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094191	0.20471	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.46	4.54	0.55810	.	0.129232	0.50627	D	0.000111	T	0.31327	0.0793	N	0.16833	0.445	0.42985	D	0.994478	B	0.21753	0.06	B	0.12837	0.008	T	0.10042	-1.0647	9	0.15066	T	0.55	0.0047	8.4717	0.32988	0.2296:0.0:0.7704:0.0	.	557	Q9BTE3	MCMBP_HUMAN	V	557;555	.	ENSP00000353098:L557V	L	-	1	0	MCMBP	121585086	0.964000	0.33143	0.816000	0.32577	0.969000	0.65631	1.612000	0.36889	1.275000	0.44379	0.467000	0.42956	CTT		0.413	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		10	77	0	0	0	0.006214	0	10	77				
PRAP1	118471	broad.mit.edu	37	10	135165834	135165834	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr10:135165834C>G	ENST00000433452.2	+	5	618	c.346C>G	c.(346-348)Ccg>Gcg	p.P116A	RP11-122K13.7_ENST00000452591.1_RNA|ZNF511_ENST00000368554.4_Missense_Mutation_p.P275A|FUOM_ENST00000465384.1_5'Flank|PRAP1_ENST00000463201.1_3'UTR|PRAP1_ENST00000458230.1_Missense_Mutation_p.P107A|PRAP1_ENST00000423766.1_Missense_Mutation_p.P117A			Q96NZ9	PRAP1_HUMAN	proline-rich acidic protein 1	116						extracellular region (GO:0005576)		p.P116A(1)		large_intestine(1)|lung(2)	3		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)		GTACCACCCTCCGCCTGAGGA	0.632																																							uc001lmp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CCG>GCG		proline-rich acidic protein 1 isoform 1							101.0	102.0	101.0					10																	135165834		2203	4299	6502	SO:0001583	missense	118471					extracellular region		g.chr10:135165834C>G	AF421885	CCDS7679.1	10q26.3	2012-10-01			ENSG00000165828	ENSG00000165828			23304	protein-coding gene	gene with protein product		609776				14583459, 20674898	Standard	NM_001145201		Approved	UPA		Q96NZ9	OTTHUMG00000019312	ENST00000433452.2:c.346C>G	10.37:g.135165834C>G	ENSP00000416126:p.Pro116Ala					PRAP1_uc001lmr.2_Missense_Mutation_p.P107A|PRAP1_uc001lmq.1_Missense_Mutation_p.P88A	p.P116A	NM_145202	NP_660203	Q96NZ9	PRAP1_HUMAN		all cancers(32;7.08e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.88e-06)|Epithelial(32;9.48e-06)	5	424	+		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	116					B7ZL57|B7ZL58|E9KL31|Q5VWY4|Q7Z4X5|Q8IWR3|Q8NCS2	Missense_Mutation	SNP	ENST00000433452.2	37	c.346C>G	CCDS7679.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.599325	0.00849	.	.	ENSG00000198546;ENSG00000165828;ENSG00000165828;ENSG00000165828	ENST00000368554;ENST00000433452;ENST00000423766;ENST00000458230	T;T;T;T	0.28255	1.63;1.62;1.62;1.62	3.37	-4.44	0.03557	.	1.959200	0.02847	N	0.128630	T	0.16385	0.0394	L	0.34521	1.04	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.11329	0.003;0.006;0.006	T	0.19877	-1.0292	10	0.05525	T	0.97	-0.1027	1.978	0.03420	0.1507:0.2096:0.418:0.2217	.	107;117;116	A6XND8;Q96NZ9-3;Q96NZ9	.;.;PRAP1_HUMAN	A	275;116;117;107	ENSP00000357542:P275A;ENSP00000416126:P116A;ENSP00000409495:P117A;ENSP00000402700:P107A	ENSP00000409495:P117A	P	+	1	0	ZNF511;PRAP1	135015824	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.363000	0.07593	-1.037000	0.03283	-0.149000	0.13747	CCG		0.632	PRAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051132.1	NM_145202		8	86	0	0	0	0.006214	0	8	86				
OR2D3	120775	broad.mit.edu	37	11	6942680	6942680	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:6942680A>G	ENST00000317834.3	+	1	476	c.448A>G	c.(448-450)Acc>Gcc	p.T150A		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T150A(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTACTACTCTACCATCATGAC	0.512																																							uc010rav.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(448-450)ACC>GCC		olfactory receptor, family 2, subfamily D,							144.0	127.0	133.0					11																	6942680		2201	4296	6497	SO:0001583	missense	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942680A>G	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.448A>G	11.37:g.6942680A>G	ENSP00000320560:p.Thr150Ala						p.T150A	NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	448	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	150			Cytoplasmic (Potential).		B2RP06|Q6IFG8|Q96R51	Missense_Mutation	SNP	ENST00000317834.3	37	c.448A>G	CCDS31417.1	.	.	.	.	.	.	.	.	.	.	A	3.107	-0.183488	0.06340	.	.	ENSG00000178358	ENST00000317834	T	0.00864	5.6	5.17	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	1.125910	0.06792	N	0.787128	T	0.00967	0.0032	L	0.38953	1.18	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50092	-0.8868	10	0.41790	T	0.15	-30.0711	1.3129	0.02101	0.4448:0.1605:0.0859:0.3089	.	150	Q8NGH3	OR2D3_HUMAN	A	150	ENSP00000320560:T150A	ENSP00000320560:T150A	T	+	1	0	OR2D3	6899256	0.000000	0.05858	0.863000	0.33907	0.116000	0.19942	0.061000	0.14366	0.468000	0.27243	0.533000	0.62120	ACC		0.512	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		29	114	0	0	0	0.00632	0	29	114				
OR10A6	390093	broad.mit.edu	37	11	7949730	7949730	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:7949730T>C	ENST00000309838.2	-	1	479	c.480A>G	c.(478-480)acA>acG	p.T160T		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	160						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T160T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATACCCATGATGTTTGAACAG	0.348																																							uc010rbh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(478-480)ACA>ACG		olfactory receptor, family 10, subfamily A,							41.0	47.0	45.0					11																	7949730		2201	4295	6496	SO:0001819	synonymous_variant	390093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7949730T>C	AB065515	CCDS31420.1	11p15.4	2012-08-09			ENSG00000175393	ENSG00000175393		"""GPCR / Class A : Olfactory receptors"""	15132	protein-coding gene	gene with protein product							Standard	NM_001004461		Approved		uc010rbh.2	Q8NH74	OTTHUMG00000165671	ENST00000309838.2:c.480A>G	11.37:g.7949730T>C							p.T160T	NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	480	-			160			Helical; Name=4; (Potential).		Q6IF59	Silent	SNP	ENST00000309838.2	37	c.480A>G	CCDS31420.1																																																																																				0.348	OR10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385703.1	NM_001004461		6	50	0	0	0	0.001984	0	6	50				
TUB	7275	broad.mit.edu	37	11	8060490	8060490	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:8060490G>A	ENST00000305253.4	+	1	311	c.70G>A	c.(70-72)Gga>Aga	p.G24R	TUB_ENST00000534099.1_Intron|RP11-236J17.6_ENST00000528151.1_RNA|RP11-236J17.6_ENST00000526646.1_RNA	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	0					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)	p.G24R(1)		breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TTTGTTCCCAGGAGGCACTCC	0.552																																							uc001mfy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)GGA>AGA		tubby isoform a							114.0	108.0	110.0					11																	8060490		2201	4296	6497	SO:0001583	missense	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8060490G>A	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000305253.4:c.70G>A	11.37:g.8060490G>A	ENSP00000305426:p.Gly24Arg					TUB_uc010rbk.1_Intron	p.G24R	NM_003320	NP_003311	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	1	311	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	Error:Variant_position_missing_in_P50607_after_alignment					D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	ENST00000305253.4	37	c.70G>A	CCDS7786.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802915	0.50315	.	.	ENSG00000166402	ENST00000305253	D	0.86769	-2.17	4.93	4.02	0.46733	.	0.763367	0.11417	N	0.566163	T	0.80994	0.4731	.	.	.	0.80722	D	1	P	0.40107	0.703	B	0.32393	0.145	T	0.79750	-0.1672	9	0.87932	D	0	-16.9912	9.1066	0.36701	0.0994:0.0:0.9006:0.0	.	24	P50607-2	.	R	24	ENSP00000305426:G24R	ENSP00000305426:G24R	G	+	1	0	TUB	8017066	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.177000	0.58276	1.441000	0.47550	0.563000	0.77884	GGA		0.552	TUB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385822.1	NM_003320		13	97	0	0	0	0.001855	0	13	97				
CTR9	9646	broad.mit.edu	37	11	10781721	10781721	+	Splice_Site	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:10781721G>A	ENST00000361367.2	+	6	1020	c.594G>A	c.(592-594)gcG>gcA	p.A198A		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	198					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.A198A(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTTTATAGCGGAAGTTCGTT	0.368																																							uc001mja.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(592-594)GCG>GCA		SH2 domain binding protein 1							114.0	110.0	111.0					11																	10781721		2201	4294	6495	SO:0001630	splice_region_variant	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10781721G>A	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.593-1G>A	11.37:g.10781721G>A							p.A198A	NM_014633	NP_055448	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	6	743	+			198			TPR 4.		D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	c.594G>A	CCDS7805.1																																																																																				0.368	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	Silent	5	65	0	0	0	0.000602	0	5	65				
MUC15	143662	broad.mit.edu	37	11	26582728	26582728	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:26582728C>G	ENST00000455601.2	-	4	1007	c.889G>C	c.(889-891)Ggg>Cgg	p.G297R	ANO3_ENST00000529242.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.G274R|MUC15_ENST00000529533.1_Missense_Mutation_p.G324R|MUC15_ENST00000527569.1_Missense_Mutation_p.G274R|MUC15_ENST00000436318.2_Missense_Mutation_p.G324R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	297					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G297R(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGAATTCCCAAAACTCACA	0.378																																							uc001mqx.2		NA																	2	Substitution - Missense(2)		lung(1)|skin(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(889-891)GGG>CGG		mucin 15 isoform b							153.0	137.0	143.0					11																	26582728		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26582728C>G	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.889G>C	11.37:g.26582728C>G	ENSP00000397339:p.Gly297Arg					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.G324R|MUC15_uc001mqy.2_Missense_Mutation_p.G274R	p.G297R	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			4	1155	-			297			Cytoplasmic (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.889G>C	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560151	0.86335	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.57907	0.43;0.37;0.44;0.37;0.44	5.43	5.43	0.79202	.	0.000000	0.49916	D	0.000133	T	0.64638	0.2616	L	0.32530	0.975	0.44462	D	0.997395	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.65726	-0.6098	10	0.59425	D	0.04	-15.011	18.3691	0.90401	0.0:1.0:0.0:0.0	.	274;297;324	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	R	297;324;274;324;274	ENSP00000397339:G297R;ENSP00000416753:G324R;ENSP00000281268:G274R;ENSP00000431983:G324R;ENSP00000431945:G274R	ENSP00000281268:G274R	G	-	1	0	MUC15	26539304	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.236000	0.51336	2.708000	0.92522	0.591000	0.81541	GGG		0.378	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		9	36	0	0	0	0.004482	0	9	36				
RAG1	5896	broad.mit.edu	37	11	36596398	36596398	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:36596398C>A	ENST00000299440.5	+	2	1656	c.1544C>A	c.(1543-1545)cCa>cAa	p.P515Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	515					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P515Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTACTTCTGCCAGGCTACCAC	0.493									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(1543-1545)CCA>CAA		recombination activating gene 1							110.0	105.0	107.0					11																	36596398		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596398C>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1544C>A	11.37:g.36596398C>A	ENSP00000299440:p.Pro515Gln					RAG1_uc001mwt.2_RNA	p.P515Q	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1668	+	all_lung(20;0.226)	all_hematologic(20;0.107)	515					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1544C>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482262	0.63962	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.92911	-3.13;-3.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98479	1.0604	10	0.87932	D	0	.	19.6271	0.95682	0.0:1.0:0.0:0.0	.	515	P15918	RAG1_HUMAN	Q	515	ENSP00000434610:P515Q;ENSP00000299440:P515Q	ENSP00000299440:P515Q	P	+	2	0	RAG1	36552974	1.000000	0.71417	0.962000	0.40283	0.706000	0.40770	7.487000	0.81328	2.649000	0.89929	0.650000	0.86243	CCA		0.493	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		15	104	1	0	2.48551e-13	0.00499	4.1079e-13	15	104				
CKAP5	9793	broad.mit.edu	37	11	46786761	46786761	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:46786761C>G	ENST00000529230.1	-	28	3503	c.3457G>C	c.(3457-3459)Gat>Cat	p.D1153H	CKAP5_ENST00000354558.3_Missense_Mutation_p.D1153H|CKAP5_ENST00000312055.5_Missense_Mutation_p.D1153H|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.D1153H			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1153					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.D1153H(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGTCTTCATCCTCCTTTAAG	0.398																																					Ovarian(4;85 273 2202 4844 13323)	Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3457-3459)GAT>CAT		colonic and hepatic tumor over-expressed protein							201.0	181.0	188.0					11																	46786761		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46786761C>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3457G>C	11.37:g.46786761C>G	ENSP00000432768:p.Asp1153His					CKAP5_uc009ylg.1_Missense_Mutation_p.D1039H|CKAP5_uc001ndj.1_Missense_Mutation_p.D1153H|CKAP5_uc001ndh.1_Missense_Mutation_p.D82H|SNORD67_uc001ndk.2_5'Flank	p.D1153H	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			28	3567	-			1153					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.3457G>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759225	0.69763	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.48201	0.82;0.82;0.83;0.83	5.5	5.5	0.81552	Armadillo-type fold (1);	0.103805	0.64402	D	0.000005	T	0.70622	0.3245	M	0.73598	2.24	0.58432	D	0.999999	P;D;D	0.89917	0.951;1.0;0.994	P;D;P	0.85130	0.739;0.997;0.868	T	0.72007	-0.4420	10	0.56958	D	0.05	-7.9385	19.4053	0.94646	0.0:1.0:0.0:0.0	.	1153;1153;1153	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	H	1153	ENSP00000432768:D1153H;ENSP00000395302:D1153H;ENSP00000310227:D1153H;ENSP00000346566:D1153H	ENSP00000310227:D1153H	D	-	1	0	CKAP5	46743337	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.273000	0.78527	2.600000	0.87896	0.563000	0.77884	GAT		0.398	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		6	146	0	0	0	0.001984	0	6	146				
OR5I1	10798	broad.mit.edu	37	11	55703541	55703541	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:55703541T>A	ENST00000301532.3	-	1	335	c.336A>T	c.(334-336)acA>acT	p.T112T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	112					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T112T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGAAGGATTCTGTATCTGCAA	0.438																																							uc010ris.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(334-336)ACA>ACT		olfactory receptor, family 5, subfamily I,							47.0	49.0	48.0					11																	55703541		2201	4292	6493	SO:0001819	synonymous_variant	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703541T>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.336A>T	11.37:g.55703541T>A							p.T112T	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	336	-			112			Helical; Name=3; (Potential).		Q6IEU4	Silent	SNP	ENST00000301532.3	37	c.336A>T	CCDS7949.1																																																																																				0.438	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		6	55	0	0	0	0.001168	0	6	55				
LPXN	9404	broad.mit.edu	37	11	58318700	58318700	+	Silent	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:58318700T>G	ENST00000395074.2	-	5	412	c.324A>C	c.(322-324)gcA>gcC	p.A108A	LPXN_ENST00000528489.1_Silent_p.A88A|LPXN_ENST00000528954.1_Silent_p.A113A	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	108					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)	p.A113A(1)|p.A108A(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CTGCTCTCACTGCAACCTGGC	0.483																																							uc001nmw.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(322-324)GCA>GCC		leupaxin isoform 2							71.0	55.0	61.0					11																	58318700		2201	4295	6496	SO:0001819	synonymous_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58318700T>G	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.324A>C	11.37:g.58318700T>G						LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Silent_p.A113A|LPXN_uc010rkk.1_Silent_p.A88A|LPXN_uc010rkl.1_RNA	p.A108A	NM_004811	NP_004802	O60711	LPXN_HUMAN			5	469	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	108					B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	ENST00000395074.2	37	c.324A>C	CCDS7969.1																																																																																				0.483	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		4	23	0	0	0	0.000248	0	4	23				
MS4A5	64232	broad.mit.edu	37	11	60201330	60201330	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:60201330C>A	ENST00000300190.2	+	4	518	c.432C>A	c.(430-432)aaC>aaA	p.N144K	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	144						integral component of membrane (GO:0016021)		p.N144K(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						TAGATCAAAACTACATTTGTG	0.368																																							uc001npo.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(430-432)AAC>AAA		membrane-spanning 4-domains, subfamily A, member							194.0	185.0	188.0					11																	60201330		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60201330C>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.432C>A	11.37:g.60201330C>A	ENSP00000300190:p.Asn144Lys						p.N144K	NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN			4	518	+			144			Extracellular (Potential).		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.432C>A	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	C	0.774	-0.764593	0.02996	.	.	ENSG00000166930	ENST00000300190	T	0.02015	4.5	3.99	2.01	0.26516	.	1.557840	0.03339	N	0.194598	T	0.02418	0.0074	N	0.25890	0.77	0.09310	N	1	P	0.38300	0.626	B	0.40256	0.324	T	0.44528	-0.9322	10	0.16896	T	0.51	-0.5729	4.5085	0.11899	0.2197:0.6631:0.0:0.1172	.	144	Q9H3V2	MS4A5_HUMAN	K	144	ENSP00000300190:N144K	ENSP00000300190:N144K	N	+	3	2	MS4A5	59957906	0.824000	0.29247	0.054000	0.19295	0.063000	0.16089	1.042000	0.30303	0.422000	0.26005	0.655000	0.94253	AAC		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			9	100	1	0	1.12685e-05	0.004482	1.54393e-05	9	100				
CD5	921	broad.mit.edu	37	11	60885907	60885907	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:60885907C>T	ENST00000347785.3	+	3	521	c.355C>T	c.(355-357)Cac>Tac	p.H119Y		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	119	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.H119Y(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CAACTGCAGCCACAGCAGAAA	0.602																																							uc009ynk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(355-357)CAC>TAC		CD5 molecule precursor							165.0	150.0	155.0					11																	60885907		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885907C>T	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.355C>T	11.37:g.60885907C>T	ENSP00000342681:p.His119Tyr						p.H119Y	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	458	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	119			Extracellular (Potential).|SRCR 1.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.355C>T	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.471430	0.00167	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	T;T	0.29917	1.55;1.55	3.61	-7.21	0.01490	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	8.738780	0.00166	N	0.000002	T	0.13970	0.0338	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44283	-0.9338	10	0.02654	T	1	15.9459	0.9296	0.01332	0.5191:0.1817:0.1684:0.1308	.	119	P06127	CD5_HUMAN	Y	119	ENSP00000342681:H119Y;ENSP00000440899:H119Y	ENSP00000342681:H119Y	H	+	1	0	CD5	60642483	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.809000	0.01731	-3.777000	0.00108	-1.618000	0.00794	CAC		0.602	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		6	136	0	0	0	0.001168	0	6	136				
C11orf48	79081	broad.mit.edu	37	11	62435066	62435066	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:62435066G>C	ENST00000431002.2	-	2	2278	c.545C>G	c.(544-546)tCa>tGa	p.S182*	METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000354588.3_Nonsense_Mutation_p.S156*|C11orf48_ENST00000525675.1_5'Flank|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000532208.1_Nonsense_Mutation_p.S156*|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000524958.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	182								p.S156*(1)		endometrium(1)|lung(5)|urinary_tract(1)	7						GGAGCCTGTTGAGTCCCAGAA	0.507																																							uc001nue.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(466-468)TCA>TGA		hypothetical protein LOC79081							170.0	169.0	170.0					11																	62435066		2202	4299	6501	SO:0001587	stop_gained	79081							g.chr11:62435066G>C	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.545C>G	11.37:g.62435066G>C	ENSP00000416856:p.Ser182*					C11orf48_uc001nuf.2_Nonsense_Mutation_p.S156*|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Nonsense_Mutation_p.S156*	p.S156*	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN			4	902	-			182					Q96NA4	Nonsense_Mutation	SNP	ENST00000431002.2	37	c.467C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.242|7.242	0.601428|0.601428	0.13939|0.13939	.|.	.|.	ENSG00000162194|ENSG00000162194	ENST00000415855|ENST00000354588;ENST00000431002;ENST00000532208	.|.	.|.	.|.	3.19|3.19	1.23|1.23	0.21249|0.21249	.|.	.|.	.|.	.|.	.|.	T|.	0.39036|.	0.1063|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35450|.	-0.9788|.	5|.	0.87932|0.66056	D|D	0|0.02	9.6819|9.6819	5.5158|5.5158	0.16906|0.16906	0.2434:0.0:0.7566:0.0|0.2434:0.0:0.7566:0.0	.|.	.|.	.|.	.|.	E|X	26|156;182;156	.|.	ENSP00000410979:Q26E|ENSP00000346600:S156X	Q|S	-|-	1|2	0|0	C11orf48|C11orf48	62191642|62191642	0.051000|0.051000	0.20477|0.20477	0.039000|0.039000	0.18376|0.18376	0.007000|0.007000	0.05969|0.05969	1.164000|1.164000	0.31810|0.31810	0.335000|0.335000	0.23614|0.23614	0.563000|0.563000	0.77884|0.77884	CAA|TCA		0.507	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1	NM_024099		36	218	0	0	0	0.00623	0	36	218				
SLC22A8	9376	broad.mit.edu	37	11	62782143	62782143	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:62782143C>G	ENST00000336232.2	-	2	423	c.288G>C	c.(286-288)ctG>ctC	p.L96L	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Silent_p.L96L|SLC22A8_ENST00000311438.8_Silent_p.L96L|SLC22A8_ENST00000545207.1_Silent_p.L5L	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	96					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)	p.L96L(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCCAGCCATCCAGGCATGGCT	0.592																																							uc001nwo.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(286-288)CTG>CTC		solute carrier family 22 member 8							148.0	148.0	148.0					11																	62782143		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62782143C>G	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.288G>C	11.37:g.62782143C>G						SLC22A8_uc001nwp.2_Silent_p.L96L|SLC22A8_uc009yom.2_Intron|SLC22A8_uc010rmm.1_Silent_p.L5L|SLC22A8_uc009yon.2_Silent_p.L96L	p.L96L	NM_004254	NP_004245	Q8TCC7	S22A8_HUMAN			2	424	-			96			Extracellular (Potential).		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.288G>C	CCDS8042.1																																																																																				0.592	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		23	138	0	0	0	0.002299	0	23	138				
EFEMP2	30008	broad.mit.edu	37	11	65637376	65637376	+	Missense_Mutation	SNP	G	G	A	rs397514683		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:65637376G>A	ENST00000307998.6	-	7	909	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.R227C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	227	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)	p.R227C(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGGCAGCGACACAGGAAG	0.607																																							uc001ofy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)CGC>TGC		EGF-containing fibulin-like extracellular matrix							95.0	97.0	96.0					11																	65637376		2201	4296	6497	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637376G>A	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.679C>T	11.37:g.65637376G>A	ENSP00000309953:p.Arg227Cys					EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.R227C	p.R227C	NM_016938	NP_058634	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	7	873	-			227			EGF-like 4; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.679C>T	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	G	34	5.304664	0.95601	.	.	ENSG00000172638	ENST00000528176;ENST00000307998	D;D	0.85702	-2.02;-2.02	5.6	5.6	0.85130	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.53938	D	0.000055	D	0.89836	0.6830	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.991	D	0.88744	0.3245	10	0.40728	T	0.16	.	17.1044	0.86658	0.0:0.0:1.0:0.0	.	227;227	E9PRU1;O95967	.;FBLN4_HUMAN	C	227	ENSP00000434151:R227C;ENSP00000309953:R227C	ENSP00000309953:R227C	R	-	1	0	EFEMP2	65393952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.644000	0.89710	0.561000	0.74099	CGC		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		17	97	0	0	0	0.00499	0	17	97				
AIP	9049	broad.mit.edu	37	11	67250704	67250704	+	Silent	SNP	C	C	T	rs104895074		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:67250704C>T	ENST00000279146.3	+	1	193	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	25					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)	p.L25L(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GAGGAGAGCTCCCGGACTTTC	0.617									Familial Isolated Pituitary Adenoma																														uc001olv.2		NA																	2	Substitution - coding silent(2)		lung(1)|skin(1)		0						c.(73-75)CTC>CTT		aryl hydrocarbon receptor interacting protein							134.0	126.0	129.0					11																	67250704		2200	4295	6495	SO:0001819	synonymous_variant	9049	Familial_Isolated_Pituitary_Adenoma_	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67250704C>T	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.75C>T	11.37:g.67250704C>T							p.L25L	NM_003977	NP_003968	O00170	AIP_HUMAN			1	200	+			25					A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Silent	SNP	ENST00000279146.3	37	c.75C>T	CCDS8168.1																																																																																				0.617	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			5	68	0	0	0	0.000602	0	5	68				
TMEM126B	55863	broad.mit.edu	37	11	85345207	85345207	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:85345207G>C	ENST00000358867.6	+	3	304	c.281G>C	c.(280-282)aGa>aCa	p.R94T	TMEM126B_ENST00000534341.1_Missense_Mutation_p.R94T|TMEM126B_ENST00000393375.1_Missense_Mutation_p.R64T	NM_018480.4	NP_060950.3	Q8IUX1	T126B_HUMAN	transmembrane protein 126B	94						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R64T(1)		kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTCCTGTTCAGACGCTGCTTC	0.343																																							uc001pao.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(190-192)AGA>ACA		transmembrane protein 126B							175.0	150.0	158.0					11																	85345207		2202	4298	6500	SO:0001583	missense	55863					integral to membrane		g.chr11:85345207G>C		CCDS8267.1, CCDS8267.2, CCDS53686.1	11q14.1	2013-05-24				ENSG00000171204		"""Mitochondrial respiratory chain complex assembly factors"""	30883	protein-coding gene	gene with protein product		615533				22982022	Standard	NM_018480		Approved	HT007	uc001pap.4	Q8IUX1		ENST00000358867.6:c.281G>C	11.37:g.85345207G>C	ENSP00000351737:p.Arg94Thr					TMEM126B_uc001pan.1_Missense_Mutation_p.R64T|TMEM126B_uc001pap.2_Missense_Mutation_p.R64T|TMEM126B_uc001paq.1_Missense_Mutation_p.R64T	p.R64T	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN			4	443	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	94					A8K535|A8MSS0|Q32Q09|Q8WVU3|Q96EP3|Q9NZ29	Missense_Mutation	SNP	ENST00000358867.6	37	c.191G>C	CCDS8267.2	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149428	0.37923	.	.	ENSG00000171204	ENST00000358867;ENST00000534341;ENST00000393375;ENST00000531274	T;T;T	0.53206	0.63;0.63;0.63	5.35	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.67664	0.2917	M	0.81497	2.545	0.44409	D	0.997323	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.70425	-0.4875	9	.	.	.	.	11.1527	0.48469	0.085:0.0:0.915:0.0	.	94;64	Q8IUX1;Q8IUX1-3	T126B_HUMAN;.	T	94;94;64;46	ENSP00000351737:R94T;ENSP00000433471:R94T;ENSP00000377039:R64T	.	R	+	2	0	TMEM126B	85022855	1.000000	0.71417	0.423000	0.26634	0.014000	0.08584	4.850000	0.62889	1.484000	0.48361	0.655000	0.94253	AGA		0.343	TMEM126B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392164.1	NM_018480		8	102	0	0	0	0.004482	0	8	102				
CCDC83	220047	broad.mit.edu	37	11	85593661	85593661	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:85593661G>A	ENST00000342404.3	+	4	502	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.E53K|CCDC83_ENST00000280245.4_Missense_Mutation_p.E96K			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	96								p.E96K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGAGGATGTTGAAGAAGCGAT	0.403																																							uc001pbh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(286-288)GAA>AAA		coiled-coil domain containing 83							111.0	104.0	106.0					11																	85593661		2203	4299	6502	SO:0001583	missense	220047							g.chr11:85593661G>A	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.286G>A	11.37:g.85593661G>A	ENSP00000344512:p.Glu96Lys					CCDC83_uc001pbg.1_Missense_Mutation_p.E96K|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.E53K	p.E96K	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			4	798	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	96			Potential.		B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Missense_Mutation	SNP	ENST00000342404.3	37	c.286G>A		.	.	.	.	.	.	.	.	.	.	G	21.6	4.169669	0.78452	.	.	ENSG00000150676	ENST00000280245;ENST00000376067;ENST00000342404	T;T;T	0.62639	0.17;0.49;0.01	5.87	5.87	0.94306	.	0.067007	0.64402	D	0.000009	T	0.80544	0.4643	M	0.80616	2.505	0.41065	D	0.985404	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.81046	-0.1110	9	.	.	.	-21.8449	17.1349	0.86736	0.0:0.0:1.0:0.0	.	53;96;96	Q8IWF9-3;Q8IWF9;Q8IWF9-2	.;CCD83_HUMAN;.	K	96;53;96	ENSP00000280245:E96K;ENSP00000365235:E53K;ENSP00000344512:E96K	.	E	+	1	0	CCDC83	85271309	1.000000	0.71417	0.855000	0.33649	0.345000	0.29048	5.434000	0.66526	2.785000	0.95823	0.655000	0.94253	GAA		0.403	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		17	89	0	0	0	0.004007	0	17	89				
MMP12	4321	broad.mit.edu	37	11	102742618	102742618	+	RNA	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:102742618G>T	ENST00000532855.1	-	0	511							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q139K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CTCCATACTTGGAAAGCTTTC	0.408																																							uc001phk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(415-417)CAA>AAA		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						82.0	80.0	81.0					11																	102742618		1919	4138	6057			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102742618G>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102742618G>T							p.Q139K	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	3	460	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	139					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.415C>A																																																																																					0.408	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		11	48	1	0	7.03913e-09	0.001368	1.08677e-08	11	48				
MMP13	4322	broad.mit.edu	37	11	102824901	102824901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:102824901C>T	ENST00000260302.3	-	4	649	c.621G>A	c.(619-621)tgG>tgA	p.W207*	MMP13_ENST00000340273.4_Nonsense_Mutation_p.W207*	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	207	Interaction with TIMP2.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W207*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AACTACTTGTCCAGGTTTCAT	0.388																																							uc001phl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(619-621)TGG>TGA		matrix metalloproteinase 13 preproprotein							51.0	52.0	52.0					11																	102824901		2202	4299	6501	SO:0001587	stop_gained	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102824901C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.621G>A	11.37:g.102824901C>T	ENSP00000260302:p.Trp207*						p.W207*	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	4	649	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	207					A8K846|B2RCZ3|Q6NWN6	Nonsense_Mutation	SNP	ENST00000260302.3	37	c.621G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	35	5.569336	0.96540	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	.	.	.	5.67	5.67	0.87782	.	0.104174	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2777	0.73753	0.0:0.8604:0.1396:0.0	.	.	.	.	X	207	.	ENSP00000260302:W207X	W	-	3	0	MMP13	102330111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.881000	0.48538	2.679000	0.91253	0.591000	0.81541	TGG		0.388	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		10	39	0	0	0	0.008291	0	10	39				
RAB39A	54734	broad.mit.edu	37	11	107832852	107832852	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:107832852A>T	ENST00000320578.2	+	2	474	c.408A>T	c.(406-408)caA>caT	p.Q136H		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	136					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.Q136H(1)									CACAACGTCAAGTTACAAGGG	0.378																																							uc001pjt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CAA>CAT		RAB39, member RAS oncogene family							83.0	80.0	81.0					11																	107832852		2201	4298	6499	SO:0001583	missense	54734				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr11:107832852A>T	X99962	CCDS8338.1	11q22.3	2011-11-22	2011-11-22	2011-11-22	ENSG00000179331	ENSG00000179331		"""RAB, member RAS oncogene"""	16521	protein-coding gene	gene with protein product	"""rab-related GTP-binding protein"""		"""RAB39, member RAS oncogene family"""	RAB39		9119394	Standard	NM_017516		Approved		uc001pjt.3	Q14964	OTTHUMG00000166367	ENST00000320578.2:c.408A>T	11.37:g.107832852A>T	ENSP00000322594:p.Gln136His						p.Q136H	NM_017516	NP_059986	Q14964	RB39A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)|Epithelial(105;8.56e-05)|all cancers(92;0.00179)	2	426	+			136					A8KAA4|Q8N6W2	Missense_Mutation	SNP	ENST00000320578.2	37	c.408A>T	CCDS8338.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384922	0.61956	.	.	ENSG00000179331	ENST00000320578	T	0.80909	-1.43	4.97	-1.78	0.07957	Small GTP-binding protein domain (1);	0.119015	0.37577	N	0.002030	D	0.87997	0.6319	M	0.87682	2.9	0.40220	D	0.97772	D	0.76494	0.999	D	0.67231	0.95	D	0.86863	0.2031	10	0.54805	T	0.06	.	12.1873	0.54247	0.469:0.0:0.531:0.0	.	136	Q14964	RB39A_HUMAN	H	136	ENSP00000322594:Q136H	ENSP00000322594:Q136H	Q	+	3	2	RAB39	107338062	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	0.930000	0.28858	-0.533000	0.06323	-0.376000	0.06991	CAA		0.378	RAB39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389423.1	NM_017516		17	52	0	0	0	0.00499	0	17	52				
BCL9L	283149	broad.mit.edu	37	11	118779239	118779239	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:118779239C>A	ENST00000334801.3	-	2	1116	c.152G>T	c.(151-153)gGg>gTg	p.G51V	BCL9L_ENST00000526143.1_5'UTR|MIR4492_ENST00000581627.1_RNA	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	51					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)	p.G51V(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCCGCCATTCCCTGTCTTGCC	0.642																																							uc001pug.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(151-153)GGG>GTG		B-cell CLL/lymphoma 9-like							96.0	107.0	104.0					11																	118779239		2200	4295	6495	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118779239C>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.152G>T	11.37:g.118779239C>A	ENSP00000335320:p.Gly51Val					BCL9L_uc009zal.2_Missense_Mutation_p.G46V	p.G51V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	2	1117	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	51					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.152G>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836835	0.50951	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085;ENST00000532899	T;T	0.74947	-0.89;-0.89	5.58	5.58	0.84498	.	0.000000	0.50627	D	0.000115	T	0.67401	0.2889	L	0.34521	1.04	0.58432	D	0.999994	P;P	0.46784	0.884;0.816	B;B	0.43155	0.41;0.232	T	0.68700	-0.5339	10	0.41790	T	0.15	-10.4429	15.0839	0.72135	0.0:0.8586:0.1414:0.0	.	46;51	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	51;14;51;51;51	ENSP00000335320:G51V;ENSP00000432804:G51V	ENSP00000335320:G51V	G	-	2	0	BCL9L	118284449	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.479000	0.53165	2.617000	0.88574	0.561000	0.74099	GGG		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		25	166	1	0	2.14196e-07	0.007291	3.19025e-07	25	166				
MCAM	4162	broad.mit.edu	37	11	119183624	119183624	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:119183624T>A	ENST00000264036.4	-	6	609	c.595A>T	c.(595-597)Agt>Tgt	p.S199C	MCAM_ENST00000392814.1_Missense_Mutation_p.S148C|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	199	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S199C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TACAAACCACTCGACTCCACA	0.567																																							uc001pwf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(595-597)AGT>TGT		melanoma cell adhesion molecule							85.0	82.0	83.0					11																	119183624		2199	4295	6494	SO:0001583	missense	4162				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		g.chr11:119183624T>A	X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.595A>T	11.37:g.119183624T>A	ENSP00000264036:p.Ser199Cys					MCAM_uc001pwg.1_5'Flank	p.S199C	NM_006500	NP_006491	P43121	MUC18_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)	6	624	-		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	199			Ig-like V-type 2.|Extracellular (Potential).		O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	ENST00000264036.4	37	c.595A>T	CCDS31690.1	.	.	.	.	.	.	.	.	.	.	T	19.19	3.779429	0.70107	.	.	ENSG00000076706	ENST00000264036;ENST00000392814	T;T	0.78364	0.82;-1.17	5.69	5.69	0.88448	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88826	0.6542	M	0.82823	2.61	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.82678	-0.0338	9	0.72032	D	0.01	-7.9979	15.1289	0.72503	0.0:0.0:0.0:1.0	.	199	P43121	MUC18_HUMAN	C	199;148	ENSP00000264036:S199C;ENSP00000376561:S148C	ENSP00000264036:S199C	S	-	1	0	MCAM	118688834	0.173000	0.23056	0.007000	0.13788	0.943000	0.58893	3.297000	0.51810	2.165000	0.68154	0.459000	0.35465	AGT		0.567	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			15	71	0	0	0	0.004007	0	15	71				
SRPR	6734	broad.mit.edu	37	11	126134327	126134327	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:126134327C>T	ENST00000332118.6	-	12	1787	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	SRPR_ENST00000532259.1_Missense_Mutation_p.D517N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	545					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.D545N(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGCACCAAATCAGGTGTATTG	0.542																																							uc001qdh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1633-1635)GAT>AAT		signal recognition particle receptor							116.0	101.0	106.0					11																	126134327		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134327C>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1633G>A	11.37:g.126134327C>T	ENSP00000328023:p.Asp545Asn					SRPR_uc010sbm.1_Missense_Mutation_p.D517N	p.D545N	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	12	1684	-	all_hematologic(175;0.145)		545					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1633G>A	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826535	0.90955	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.43	5.43	0.79202	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.77765	0.4179	M	0.69523	2.12	0.80722	D	1	D;D	0.59357	0.985;0.97	D;P	0.63381	0.914;0.85	T	0.77056	-0.2729	9	0.49607	T	0.09	-23.397	19.4521	0.94872	0.0:1.0:0.0:0.0	.	517;545	E9PJS4;P08240	.;SRPR_HUMAN	N	545;517	.	ENSP00000328023:D545N	D	-	1	0	SRPR	125639537	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.651000	0.83577	2.826000	0.97356	0.637000	0.83480	GAT		0.542	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		9	60	0	0	0	0.006214	0	9	60				
CACNA2D4	93589	broad.mit.edu	37	12	1965188	1965188	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:1965188T>A	ENST00000382722.5	-	22	2504	c.2142A>T	c.(2140-2142)ccA>ccT	p.P714P	CACNA2D4_ENST00000585732.1_Silent_p.P575P|CACNA2D4_ENST00000585708.1_Silent_p.P650P|CACNA2D4_ENST00000587995.1_Silent_p.P689P|CACNA2D4_ENST00000588077.1_Silent_p.P650P|CACNA2D4_ENST00000586184.1_Silent_p.P714P|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	714					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P714P(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACTCCAGGTCTGGGTCCTTCC	0.592																																					Colon(2;101 179 21030 23310 28141)	Colon(2;101 179 21030 23310 28141)	uc001qjp.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2140-2142)CCA>CCT		voltage-gated calcium channel alpha(2)delta-4							55.0	61.0	59.0					12																	1965188		2022	4183	6205	SO:0001819	synonymous_variant	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1965188T>A	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2142A>T	12.37:g.1965188T>A						CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.P578P|CACNA2D4_uc009zdr.1_5'Flank	p.P714P	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	22	2373	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	714			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	c.2142A>T	CCDS44785.1																																																																																				0.592	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			10	43	0	0	0	0.008291	0	10	43				
ACRBP	84519	broad.mit.edu	37	12	6749349	6749349	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:6749349G>A	ENST00000229243.2	-	8	1395	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	ACRBP_ENST00000414226.2_Silent_p.Y401Y|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2			acrosin binding protein									p.Y434Y(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GGAGCCCACCGTACAAATCCA	0.607																																							uc001qpu.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1300-1302)TAC>TAT		proacrosin binding protein sp32 precursor							72.0	67.0	69.0					12																	6749349		2203	4300	6503	SO:0001819	synonymous_variant	84519					acrosomal vesicle|extracellular region		g.chr12:6749349G>A	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1302C>T	12.37:g.6749349G>A						LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.Y401Y	p.Y434Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			8	1350	-			434						Silent	SNP	ENST00000229243.2	37	c.1302C>T	CCDS8554.1																																																																																				0.607	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		7	54	0	0	0	0.004482	0	7	54				
LAG3	3902	broad.mit.edu	37	12	6884556	6884556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:6884556C>A	ENST00000203629.2	+	5	1232	c.899C>A	c.(898-900)cCt>cAt	p.P300H	LAG3_ENST00000441671.2_Missense_Mutation_p.P300H	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	300	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)	p.P300H(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AAGTGGACTCCTCCTGGGGGA	0.642																																							uc001qqt.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(898-900)CCT>CAT		lymphocyte-activation protein 3 precursor							89.0	87.0	87.0					12																	6884556		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6884556C>A		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.899C>A	12.37:g.6884556C>A	ENSP00000203629:p.Pro300His					LAG3_uc001qqs.2_Missense_Mutation_p.P300H|LAG3_uc001qqu.2_Missense_Mutation_p.P130H	p.P300H	NM_002286	NP_002277	P18627	LAG3_HUMAN			5	1248	+			300			Extracellular (Potential).|Ig-like C2-type 2.		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.899C>A	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568426	0.28003	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.12039	2.72;2.72	5.55	1.11	0.20524	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.342498	0.24742	N	0.035976	T	0.22322	0.0538	M	0.65975	2.015	0.09310	N	1	D;D	0.62365	0.989;0.991	P;P	0.59948	0.866;0.819	T	0.06844	-1.0804	10	0.32370	T	0.25	-2.6369	3.5355	0.07793	0.0:0.4546:0.1928:0.3526	.	300;300	P18627;Q7Z643	LAG3_HUMAN;.	H	300	ENSP00000413825:P300H;ENSP00000203629:P300H	ENSP00000203629:P300H	P	+	2	0	LAG3	6754817	0.000000	0.05858	0.635000	0.29338	0.399000	0.30720	-0.351000	0.07711	0.312000	0.23038	0.462000	0.41574	CCT		0.642	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			17	81	1	0	6.94344e-10	0.006122	1.09606e-09	17	81				
C3AR1	719	broad.mit.edu	37	12	8212740	8212740	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:8212740G>T	ENST00000307637.4	-	2	245	c.42C>A	c.(40-42)ctC>ctA	p.L14L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	14					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L14L(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ATGGCTGTGAGAGTAGGTCAG	0.428																																							uc001qtv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(40-42)CTC>CTA		complement component 3a receptor 1							84.0	88.0	87.0					12																	8212740		2203	4299	6502	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212740G>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.42C>A	12.37:g.8212740G>T							p.L14L	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	134	-			14			Extracellular (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.42C>A	CCDS8588.1																																																																																				0.428	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			12	115	1	0	1.5842e-08	0.001855	2.42808e-08	12	115				
TAS2R19	259294	broad.mit.edu	37	12	11174720	11174720	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:11174720C>T	ENST00000390673.2	-	1	499	c.451G>A	c.(451-453)Gag>Aag	p.E151K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	151					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E151K(1)		breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CACACTCTCTCATCCATGGTT	0.388																																							uc010shj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(451-453)GAG>AAG		taste receptor, type 2, member 19							129.0	116.0	121.0					12																	11174720		2203	4300	6503	SO:0001583	missense	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11174720C>T	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.451G>A	12.37:g.11174720C>T	ENSP00000375091:p.Glu151Lys					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.E151K	NM_176888	NP_795369	P59542	T2R19_HUMAN			1	451	-			151			Extracellular (Potential).		Q3MIJ4|Q645X8	Missense_Mutation	SNP	ENST00000390673.2	37	c.451G>A	CCDS8640.1	.	.	.	.	.	.	.	.	.	.	c	1.295	-0.606567	0.03717	.	.	ENSG00000212124	ENST00000390673	T	0.00717	5.79	2.69	0.437	0.16555	.	1.553240	0.04327	N	0.351745	T	0.01320	0.0043	M	0.74389	2.26	0.09310	N	1	B	0.12013	0.005	B	0.22386	0.039	T	0.55483	-0.8134	10	0.14656	T	0.56	.	4.4633	0.11676	0.2896:0.4823:0.2281:0.0	.	151	P59542	T2R19_HUMAN	K	151	ENSP00000375091:E151K	ENSP00000375091:E151K	E	-	1	0	TAS2R19	11065987	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.193000	0.01244	-0.037000	0.13646	0.405000	0.27470	GAG		0.388	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		13	115	0	0	0	0.001368	0	13	115				
GRIN2B	2904	broad.mit.edu	37	12	13906333	13906333	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:13906333C>G	ENST00000609686.1	-	3	1137	c.928G>C	c.(928-930)Gag>Cag	p.E310Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	310					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.E310Q(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AAGCTGTGCTCAGACAGCATG	0.483																																							uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(928-930)GAG>CAG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						162.0	142.0	149.0					12																	13906333		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906333C>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.928G>C	12.37:g.13906333C>G	ENSP00000477455:p.Glu310Gln						p.E310Q	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	1107	-			310			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.928G>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473162	0.26423	.	.	ENSG00000150086	ENST00000279593	T	0.06933	3.24	5.86	5.86	0.93980	.	0.046588	0.85682	D	0.000000	T	0.10594	0.0259	L	0.29908	0.895	0.53688	D	0.999976	B	0.29188	0.236	B	0.36719	0.231	T	0.33420	-0.9869	10	0.18710	T	0.47	.	20.1865	0.98220	0.0:1.0:0.0:0.0	.	310	Q13224	NMDE2_HUMAN	Q	310	ENSP00000279593:E310Q	ENSP00000279593:E310Q	E	-	1	0	GRIN2B	13797600	0.995000	0.38212	0.385000	0.26158	0.582000	0.36321	4.864000	0.62990	2.775000	0.95449	0.655000	0.94253	GAG		0.483	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	92	0	0	0	0.000978	0	11	92				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		3	14	1	0	0.004672	0.004672	0.00574248	3	14				
ALG10	84920	broad.mit.edu	37	12	34175705	34175705	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:34175705G>T	ENST00000266483.2	+	1	490	c.171G>T	c.(169-171)caG>caT	p.Q57H	ALG10_ENST00000538927.1_Splice_Site_p.Q57H|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	57					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.Q57H(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCTTTCCCAGGTGGGGTCCC	0.642																																							uc001rlm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(169-171)CAG>CAT		asparagine-linked glycosylation 10 homolog							99.0	105.0	103.0					12																	34175705		2203	4300	6503	SO:0001630	splice_region_variant	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34175705G>T	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.171+1G>T	12.37:g.34175705G>T							p.Q57H	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			1	490	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	57			Extracellular (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.171G>T	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499371	0.26861	.	.	ENSG00000139133	ENST00000266483;ENST00000538927	T;T	0.57436	0.4;0.4	3.05	2.13	0.27403	.	0.108691	0.64402	D	0.000004	T	0.39009	0.1062	L	0.39147	1.195	0.48236	D	0.999614	B	0.19706	0.038	B	0.20384	0.029	T	0.32241	-0.9914	10	0.38643	T	0.18	.	7.8472	0.29433	0.1368:0.0:0.8632:0.0	.	57	Q5BKT4	AG10A_HUMAN	H	57	ENSP00000266483:Q57H;ENSP00000444084:Q57H	ENSP00000266483:Q57H	Q	+	3	2	ALG10	34066972	1.000000	0.71417	0.987000	0.45799	0.324000	0.28378	5.967000	0.70403	1.729000	0.51567	0.184000	0.17185	CAG		0.642	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834	Missense_Mutation	29	118	1	0	1.2476e-16	0.00632	2.14601e-16	29	118				
DBX2	440097	broad.mit.edu	37	12	45417664	45417664	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:45417664C>A	ENST00000332700.6	-	3	684	c.513G>T	c.(511-513)atG>atT	p.M171I		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	171			M -> V (in dbSNP:rs2731038). {ECO:0000269|PubMed:14702039}.		regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.M171I(1)		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)		GGAGAGGCAGCATGCTCTCTT	0.448																																							uc001rok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)ATG>ATT		developing brain homeobox 2							43.0	45.0	44.0					12																	45417664		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45417664C>A		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.513G>T	12.37:g.45417664C>A	ENSP00000331470:p.Met171Ile						p.M171I	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	3	685	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	171						Missense_Mutation	SNP	ENST00000332700.6	37	c.513G>T	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552416	0.27739	.	.	ENSG00000185610	ENST00000332700	D	0.90444	-2.67	5.49	1.55	0.23275	.	0.479552	0.19272	N	0.118400	T	0.77512	0.4141	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.62918	-0.6752	10	0.35671	T	0.21	-1.908	2.6675	0.05057	0.1144:0.4941:0.1117:0.2797	.	171	Q6ZNG2	DBX2_HUMAN	I	171	ENSP00000331470:M171I	ENSP00000331470:M171I	M	-	3	0	DBX2	43703931	0.353000	0.24904	0.335000	0.25508	0.781000	0.44180	-0.313000	0.08103	0.016000	0.14998	0.655000	0.94253	ATG		0.448	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		6	68	1	0	3.59834e-05	0.001168	4.82573e-05	6	68				
DIP2B	57609	broad.mit.edu	37	12	51108375	51108375	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:51108375A>G	ENST00000301180.5	+	23	2881	c.2847A>G	c.(2845-2847)caA>caG	p.Q949Q		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	949						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q949Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GGCAAAAACAACCAGGTAATA	0.448																																							uc001rwv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(2845-2847)CAA>CAG		DIP2 disco-interacting protein 2 homolog B							68.0	65.0	66.0					12																	51108375		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51108375A>G	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2847A>G	12.37:g.51108375A>G						DIP2B_uc009zlt.2_Silent_p.Q379Q	p.Q949Q	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			23	3003	+			949					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.2847A>G	CCDS31799.1																																																																																				0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		15	51	0	0	0	0.004007	0	15	51				
KRT84	3890	broad.mit.edu	37	12	52774887	52774887	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:52774887C>G	ENST00000257951.3	-	6	1246	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	394	Coil 2.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.E394Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTCAATCTCTGCCTTAAGC	0.552																																							uc001sah.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1180-1182)GAG>CAG		keratin, hair, basic, 4							234.0	206.0	216.0					12																	52774887		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52774887C>G	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.1180G>C	12.37:g.52774887C>G	ENSP00000257951:p.Glu394Gln						p.E394Q	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1228	-	all_hematologic(5;0.12)		394			Rod.|Coil 2.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.1180G>C	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843725	0.91197	.	.	ENSG00000161849	ENST00000257951	T	0.78924	-1.22	5.54	4.64	0.57946	Filament (1);	0.000000	0.50627	D	0.000112	D	0.85164	0.5634	M	0.83692	2.655	0.41098	D	0.985643	P	0.41673	0.759	P	0.51806	0.68	D	0.87535	0.2455	10	0.87932	D	0	.	13.7868	0.63115	0.0:0.9266:0.0:0.0734	.	394	Q9NSB2	KRT84_HUMAN	Q	394	ENSP00000257951:E394Q	ENSP00000257951:E394Q	E	-	1	0	KRT84	51061154	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.033000	0.70925	2.606000	0.88127	0.655000	0.94253	GAG		0.552	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		25	205	0	0	0	0.005443	0	25	205				
KRT3	3850	broad.mit.edu	37	12	53189644	53189644	+	Silent	SNP	G	G	C	rs368081511		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:53189644G>C	ENST00000417996.2	-	1	257	c.183C>G	c.(181-183)ggC>ggG	p.G61G	KRT3_ENST00000309505.3_Silent_p.G61G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	61	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.G61G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCTTGTTGCCGCCCAGGTTGT	0.667																																							uc001say.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(181-183)GGC>GGG		keratin 3							80.0	103.0	95.0					12																	53189644		2203	4300	6503	SO:0001819	synonymous_variant	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53189644G>C		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.183C>G	12.37:g.53189644G>C							p.G61G	NM_057088	NP_476429	P12035	K2C3_HUMAN			1	249	-			61			Gly-rich.|Head.		A6NIS2|Q701L8	Silent	SNP	ENST00000417996.2	37	c.183C>G	CCDS44895.1																																																																																				0.667	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		13	105	0	0	0	0.001855	0	13	105				
NUP107	57122	broad.mit.edu	37	12	69084516	69084516	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:69084516A>T	ENST00000229179.4	+	4	625	c.293A>T	c.(292-294)aAt>aTt	p.N98I	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.N69I	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	98					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)	p.N98I(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTCTTTGGAAATCTCTCCATG	0.493																																							uc001suf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(292-294)AAT>ATT		nucleoporin 107kDa							66.0	68.0	67.0					12																	69084516		2203	4300	6503	SO:0001583	missense	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69084516A>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.293A>T	12.37:g.69084516A>T	ENSP00000229179:p.Asn98Ile					NUP107_uc001sug.2_5'UTR|NUP107_uc010stj.1_Missense_Mutation_p.N69I	p.N98I	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		4	408	+	Breast(13;6.25e-06)		98					B4DZ67|Q6PJE1	Missense_Mutation	SNP	ENST00000229179.4	37	c.293A>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454802	0.63290	.	.	ENSG00000111581	ENST00000229179;ENST00000539906	.	.	.	5.56	4.39	0.52855	.	0.191385	0.53938	N	0.000050	T	0.46210	0.1381	L	0.36672	1.1	0.80722	D	1	P;D	0.56035	0.788;0.974	B;P	0.47470	0.383;0.548	T	0.31752	-0.9932	8	.	.	.	-33.8159	9.9467	0.41613	0.8484:0.0:0.0:0.1516	.	69;98	B4DZ67;P57740	.;NU107_HUMAN	I	98;69	.	.	N	+	2	0	NUP107	67370783	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	2.938000	0.48987	1.005000	0.39183	0.455000	0.32223	AAT		0.493	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		17	83	0	0	0	0.004007	0	17	83				
CCT2	10576	broad.mit.edu	37	12	69991418	69991418	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:69991418G>T	ENST00000299300.6	+	12	1291	c.1103G>T	c.(1102-1104)gGt>gTt	p.G368V	CCT2_ENST00000543146.2_Splice_Site_p.G321V|CCT2_ENST00000544368.2_Splice_Site_p.G368V	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	368					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.G368V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTAATTTTAGGTGAGGCTTGT	0.393																																							uc001svb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1102-1104)GGT>GTT		chaperonin containing TCP1, subunit 2							74.0	73.0	73.0					12																	69991418		2203	4300	6503	SO:0001630	splice_region_variant	10576				'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	g.chr12:69991418G>T	AF026293	CCDS8991.1, CCDS55843.1	12q14	2011-09-02						"""Heat Shock Proteins / Chaperonins"""	1615	protein-coding gene	gene with protein product		605139				9819444	Standard	NM_001198842		Approved	Cctb	uc001svb.1	P78371	OTTHUMG00000169383	ENST00000299300.6:c.1103-1G>T	12.37:g.69991418G>T						CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.G368V|CCT2_uc010stl.1_Missense_Mutation_p.G321V	p.G368V	NM_006431	NP_006422	P78371	TCPB_HUMAN	Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		12	1197	+	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		368					A8K402|B5BTY7|B7Z243|B7Z7K4|B7ZAT2|Q14D36|Q6IAT3	Missense_Mutation	SNP	ENST00000299300.6	37	c.1103G>T	CCDS8991.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358014	0.82243	.	.	ENSG00000166226	ENST00000299300;ENST00000544368;ENST00000543146	T;T;T	0.80304	-1.36;-1.36;-1.36	5.66	5.66	0.87406	.	0.045148	0.85682	D	0.000000	D	0.90116	0.6912	M	0.80332	2.49	0.80722	D	1	D;D	0.71674	0.998;0.992	D;D	0.69654	0.946;0.965	D	0.89585	0.3823	9	.	.	.	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	368;368	F5GWF6;P78371	.;TCPB_HUMAN	V	368;368;321	ENSP00000299300:G368V;ENSP00000441847:G368V;ENSP00000445471:G321V	.	G	+	2	0	CCT2	68277685	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	9.468000	0.97676	2.690000	0.91761	0.655000	0.94253	GGT		0.393	CCT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403818.1	NM_006431	Missense_Mutation	16	82	1	0	3.41278e-10	0.00499	5.41426e-10	16	82				
GLIPR1L2	144321	broad.mit.edu	37	12	75807464	75807464	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:75807464A>T	ENST00000550916.1	+	3	614	c.567A>T	c.(565-567)atA>atT	p.I189I	GLIPR1L2_ENST00000441218.1_Silent_p.I124I|GLIPR1L2_ENST00000378692.3_Silent_p.I82I|GLIPR1L2_ENST00000320460.4_Silent_p.I189I|GLIPR1L2_ENST00000435775.1_Intron|GLIPR1L2_ENST00000547164.1_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	189	SCP.					integral component of membrane (GO:0016021)		p.I189I(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CAATTTTCATATGCAACTATG	0.274																																							uc001sxr.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(565-567)ATA>ATT		GLI pathogenesis-related 1 like 2							96.0	100.0	98.0					12																	75807464		2203	4295	6498	SO:0001819	synonymous_variant	144321					integral to membrane		g.chr12:75807464A>T	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.567A>T	12.37:g.75807464A>T						GLIPR1L2_uc001sxp.1_Silent_p.I189I|GLIPR1L2_uc001sxq.1_Silent_p.I82I	p.I189I	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			3	575	+			189					Q6MZS1|Q8N6N0|Q8NA43	Silent	SNP	ENST00000550916.1	37	c.567A>T	CCDS58258.1																																																																																				0.274	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		27	174	0	0	0	0.005443	0	27	174				
ANKS1B	56899	broad.mit.edu	37	12	99145221	99145221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:99145221C>A	ENST00000547776.2	-	25	3583	c.3584G>T	c.(3583-3585)gGg>gTg	p.G1195V	ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711V|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293V|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195V|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445V|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201V|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225V|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330V|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361V|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385V|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361V|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385V|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421V	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1195	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.G1195V(1)|p.G445V(1)		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)		GGAGTGTCCCCCTTTTCTTGC	0.478																																							uc001tge.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3583-3585)GGG>GTG		cajalin 2 isoform a							168.0	170.0	170.0					12																	99145221		1894	4106	6000	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99145221C>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.3584G>T	12.37:g.99145221C>A	ENSP00000449629:p.Gly1195Val					ANKS1B_uc001tgf.1_Missense_Mutation_p.G711V|ANKS1B_uc001tgk.2_Missense_Mutation_p.G492V|ANKS1B_uc010svd.1_Missense_Mutation_p.G201V|ANKS1B_uc001tgd.1_Missense_Mutation_p.G361V|ANKS1B_uc009ztq.2_Missense_Mutation_p.G97V|ANKS1B_uc010sve.1_Missense_Mutation_p.G225V|ANKS1B_uc001tgh.3_Missense_Mutation_p.G201V|ANKS1B_uc001tgi.2_Missense_Mutation_p.G445V|ANKS1B_uc009ztr.2_Missense_Mutation_p.G385V|ANKS1B_uc001tgj.2_Missense_Mutation_p.G361V|ANKS1B_uc009ztp.2_Missense_Mutation_p.G226V|ANKS1B_uc010svf.1_Missense_Mutation_p.G225V|ANKS1B_uc001tgg.3_Missense_Mutation_p.G293V|ANKS1B_uc010svg.1_Missense_Mutation_p.G330V|ANKS1B_uc009zts.1_Missense_Mutation_p.G421V	p.G1195V	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)	25	4001	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1195			PID.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.3584G>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.0|27.0	4.789321|4.789321	0.90367|0.90367	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960|ENST00000550778	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.71103|0.65916	-0.19;-0.18;0.95;0.18;0.95;-0.13;0.45;-0.13;-0.54;-0.11;-0.13;0.21;-0.17|-0.18	5.08|5.08	5.08|5.08	0.68730|0.68730	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);|.	0.075918|0.075918	0.52532|0.52532	D|D	0.000061|0.000061	T|T	0.54951|0.54951	0.1890|0.1890	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D;B;D;D;P;B;D;P;D;D;P|.	0.69078|.	0.447;0.99;0.983;0.409;0.973;0.991;0.552;0.409;0.973;0.552;0.968;0.997;0.552|.	B;P;P;B;P;P;B;B;P;B;P;P;B|.	0.62649|.	0.196;0.905;0.807;0.211;0.798;0.894;0.274;0.211;0.798;0.287;0.889;0.895;0.287|.	T|T	0.52704|0.52704	-0.8540|-0.8540	10|7	0.66056|.	D|.	0.02|.	-7.3655|-7.3655	18.4626|18.4626	0.90745|0.90745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	330;225;225;421;385;335;409;361;445;293;711;1195;361|.	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	V|W	201;361;1195;711;1195;710;385;293;445;330;225;361;385;286;421|467	ENSP00000345510:G201V;ENSP00000448993:G361V;ENSP00000449629:G1195V;ENSP00000448512:G711V;ENSP00000331381:G1195V;ENSP00000447999:G385V;ENSP00000447312:G293V;ENSP00000448203:G445V;ENSP00000450015:G330V;ENSP00000331256:G225V;ENSP00000448205:G361V;ENSP00000332683:G385V;ENSP00000447839:G421V|ENSP00000448744:G467W	ENSP00000331381:G1195V|.	G|G	-|-	2|1	0|0	ANKS1B|ANKS1B	97669352|97669352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.674000|5.674000	0.68117|0.68117	2.368000|2.368000	0.80403|0.80403	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.478	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		12	101	1	0	7.03913e-09	0.001368	1.08677e-08	12	101				
ANKS1B	56899	broad.mit.edu	37	12	100200327	100200327	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:100200327C>T	ENST00000547776.2	-	4	523	c.524G>A	c.(523-525)aGa>aAa	p.R175K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R175K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	175						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.R175K(1)		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)		TTTTACCACTCTAAGCCGTCC	0.493																																							uc001tge.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(523-525)AGA>AAA		cajalin 2 isoform a							123.0	120.0	121.0					12																	100200327		2083	4211	6294	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100200327C>T	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.524G>A	12.37:g.100200327C>T	ENSP00000449629:p.Arg175Lys					ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.R175K	p.R175K	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)	4	941	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	175			ANK 5.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.524G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.497786	0.44455	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.62498	0.02;0.02;0.02	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.150621	0.44097	D	0.000495	T	0.59715	0.2214	N	0.13272	0.32	0.48087	D	0.999589	D;P	0.56287	0.975;0.749	P;P	0.61003	0.882;0.657	T	0.57997	-0.7714	9	.	.	.	-10.7818	12.7802	0.57472	0.0:0.9251:0.0:0.0749	.	175;175	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	K	175	ENSP00000449629:R175K;ENSP00000331381:R175K;ENSP00000449894:R175K	.	R	-	2	0	ANKS1B	98724458	0.714000	0.27936	0.617000	0.29091	0.915000	0.54546	3.034000	0.49751	2.591000	0.87537	0.557000	0.71058	AGA		0.493	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		8	58	0	0	0	0.00308	0	8	58				
NUAK1	9891	broad.mit.edu	37	12	106461516	106461516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:106461516C>A	ENST00000261402.2	-	7	2429	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	350					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.K350N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCCAGGCCCTTCATTTTGG	0.567																																							uc001tlj.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1048-1050)AAG>AAT		AMPK-related protein kinase 5							71.0	69.0	69.0					12																	106461516		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461516C>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1050G>T	12.37:g.106461516C>A	ENSP00000261402:p.Lys350Asn						p.K350N	NM_014840	NP_055655	O60285	NUAK1_HUMAN			7	2430	-			350					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1050G>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	C	5.889	0.348135	0.11126	.	.	ENSG00000074590	ENST00000261402;ENST00000553094	T;T	0.73152	-0.72;1.5	5.67	0.56	0.17279	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000005	T	0.62344	0.2420	L	0.57536	1.79	0.50632	D	0.999881	B	0.33512	0.415	B	0.35353	0.201	T	0.52734	-0.8536	10	0.23891	T	0.37	.	10.1317	0.42682	0.0:0.659:0.0:0.341	.	350	O60285	NUAK1_HUMAN	N	350;65	ENSP00000261402:K350N;ENSP00000446873:K65N	ENSP00000261402:K350N	K	-	3	2	NUAK1	104985646	0.968000	0.33430	0.749000	0.31150	0.662000	0.39071	0.129000	0.15830	0.051000	0.15978	-0.258000	0.10820	AAG		0.567	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		12	77	1	0	5.50884e-06	0.001368	7.6304e-06	12	77				
SDSL	113675	broad.mit.edu	37	12	113873251	113873251	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:113873251G>C	ENST00000403593.4	+	6	823	c.561G>C	c.(559-561)ctG>ctC	p.L187L	SDSL_ENST00000345635.4_Silent_p.L187L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	187					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.L187L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CTGGCCTGCTGGAGGTGGGCT	0.647																																							uc001tvi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)CTG>CTC		serine dehydratase-like	Pyridoxal Phosphate(DB00114)						41.0	41.0	41.0					12																	113873251		2203	4300	6503	SO:0001819	synonymous_variant	113675				cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding	g.chr12:113873251G>C	AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.561G>C	12.37:g.113873251G>C						SDSL_uc009zwh.2_Silent_p.L187L	p.L187L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN			7	771	+			187						Silent	SNP	ENST00000403593.4	37	c.561G>C	CCDS9170.1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.319054	0.10845	.	.	ENSG00000139410	ENST00000546672	.	.	.	4.63	0.0856	0.14442	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.26479	N	0.975141	.	.	.	.	.	.	T	0.31916	-0.9926	4	.	.	.	-0.2468	10.9338	0.47233	0.0857:0.12:0.7943:0.0	.	.	.	.	S	83	.	.	W	+	2	0	SDSL	112357634	0.001000	0.12720	0.302000	0.25058	0.827000	0.46813	-0.227000	0.09126	-0.216000	0.10048	0.462000	0.41574	TGG		0.647	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1	NM_138432		10	34	0	0	0	0.006214	0	10	34				
RBM19	9904	broad.mit.edu	37	12	114374889	114374889	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:114374889C>A	ENST00000545145.2	-	16	2069	c.1991G>T	c.(1990-1992)aGc>aTc	p.S664I	RBM19_ENST00000261741.5_Missense_Mutation_p.S664I|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000392561.3_Missense_Mutation_p.S664I	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	664					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S664I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGGGGCTGTGCTGGAGAAGAC	0.527																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1990-1992)AGC>ATC		RNA binding motif protein 19							129.0	128.0	128.0					12																	114374889		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114374889C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1991G>T	12.37:g.114374889C>A	ENSP00000442053:p.Ser664Ile					RBM19_uc001tvn.3_Missense_Mutation_p.S664I|RBM19_uc001tvm.2_Missense_Mutation_p.S664I	p.S664I	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			16	2135	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		664					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1991G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884507	0.33255	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05786	3.39;3.39;3.39	4.8	4.8	0.61643	Nucleotide-binding, alpha-beta plait (1);	0.458498	0.26761	N	0.022631	T	0.08313	0.0207	L	0.46157	1.445	0.31620	N	0.650433	B	0.30326	0.276	B	0.26202	0.067	T	0.02774	-1.1112	10	0.42905	T	0.14	-11.6113	16.8661	0.86029	0.0:1.0:0.0:0.0	.	664	Q9Y4C8	RBM19_HUMAN	I	664	ENSP00000442053:S664I;ENSP00000376344:S664I;ENSP00000261741:S664I	ENSP00000261741:S664I	S	-	2	0	RBM19	112859272	0.132000	0.22450	0.820000	0.32676	0.337000	0.28794	1.559000	0.36320	2.222000	0.72286	0.655000	0.94253	AGC		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		11	104	1	0	2.27111e-07	0.001368	3.35891e-07	11	104				
UBC	7316	broad.mit.edu	37	12	125397469	125397469	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:125397469G>A	ENST00000536769.1	-	1	2425	c.849C>T	c.(847-849)acC>acT	p.T283T	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Silent_p.T283T|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.T207T			P0CG48	UBC_HUMAN	ubiquitin C	283	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.T283T(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGTCAGACAGGGTGCGCCCAT	0.527																																							uc001ugs.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(847-849)ACC>ACT		ubiquitin C							97.0	89.0	92.0					12																	125397469		2203	4297	6500	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397469G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.849C>T	12.37:g.125397469G>A						UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.T283T|UBC_uc001ugt.2_Silent_p.T283T|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Silent_p.T131T	p.T283T	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1297	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		283			Ubiquitin-like 4.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.849C>T	CCDS9260.1																																																																																				0.527	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		10	182	0	0	0	0.003163	0	10	182				
AACS	65985	broad.mit.edu	37	12	125576036	125576036	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:125576036C>G	ENST00000316519.6	+	5	743	c.537C>G	c.(535-537)atC>atG	p.I179M	AACS_ENST00000261686.6_Missense_Mutation_p.I179M	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	179					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)	p.I179M(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TTGGTGCCATCTGGAGCTCCA	0.587																																							uc001uhc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(535-537)ATC>ATG		acetoacetyl-CoA synthetase							91.0	75.0	81.0					12																	125576036		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125576036C>G	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.537C>G	12.37:g.125576036C>G	ENSP00000324842:p.Ile179Met					AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.I179M|AACS_uc009zyh.2_RNA	p.I179M	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	5	743	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		179					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.537C>G	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385235	0.61956	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000537477	T;T;T	0.54279	0.87;0.87;0.58	5.08	2.94	0.34122	AMP-dependent synthetase/ligase (1);	0.108901	0.64402	D	0.000010	T	0.66567	0.2802	M	0.90145	3.09	0.54753	D	0.999986	D;P	0.55800	0.973;0.87	P;P	0.58721	0.757;0.844	T	0.67650	-0.5616	10	0.72032	D	0.01	.	2.0971	0.03671	0.2478:0.404:0.0:0.3482	.	179;179	Q86V21-2;Q86V21	.;AACS_HUMAN	M	179;179;35;10	ENSP00000324842:I179M;ENSP00000261686:I179M;ENSP00000439931:I10M	ENSP00000261686:I179M	I	+	3	3	AACS	124141989	0.972000	0.33761	1.000000	0.80357	0.838000	0.47535	0.029000	0.13666	1.102000	0.41551	0.655000	0.94253	ATC		0.587	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		8	38	0	0	0	0.006214	0	8	38				
RNF17	56163	broad.mit.edu	37	13	25367307	25367307	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr13:25367307A>G	ENST00000255324.5	+	10	1115	c.1063A>G	c.(1063-1065)Agt>Ggt	p.S355G	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Missense_Mutation_p.S355G|RNF17_ENST00000381921.1_Missense_Mutation_p.S355G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	355					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S355G(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TGTCCTAACCAGTGAAGCACC	0.393																																							uc001upr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1063-1065)AGT>GGT		ring finger protein 17							194.0	180.0	185.0					13																	25367307		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25367307A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1063A>G	13.37:g.25367307A>G	ENSP00000255324:p.Ser355Gly					RNF17_uc010tdd.1_Missense_Mutation_p.S214G|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.S355G|RNF17_uc001ups.2_Missense_Mutation_p.S294G|RNF17_uc001upq.1_Missense_Mutation_p.S355G	p.S355G	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	10	1104	+		Lung SC(185;0.0225)|Breast(139;0.077)	355					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.1063A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	4.627	0.116517	0.08881	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325;ENST00000255326	T;T;T	0.18338	3.49;3.49;2.22	5.27	2.91	0.33838	.	0.820704	0.11211	N	0.587738	T	0.08223	0.0205	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.27673	-1.0067	10	0.40728	T	0.16	-4.9537	5.2061	0.15291	0.7612:0.0:0.2388:0.0	.	355;355;355	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	G	355;355;214;356;355	ENSP00000255324:S355G;ENSP00000371346:S355G;ENSP00000255325:S356G	ENSP00000255324:S355G	S	+	1	0	RNF17	24265307	0.003000	0.15002	0.018000	0.16275	0.027000	0.11550	0.747000	0.26290	1.050000	0.40346	0.528000	0.53228	AGT		0.393	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		34	176	0	0	0	0.002836	0	34	176				
ITM2B	9445	broad.mit.edu	37	13	48828025	48828025	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr13:48828025G>T	ENST00000378565.5	+	2	402	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C	ITM2B_ENST00000378549.5_Missense_Mutation_p.G67C	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	67					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)	p.G67C(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TATGCTTGCAGGTGTTATTCT	0.378																																							uc001vbz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(199-201)GGT>TGT		integral membrane protein 2B							152.0	139.0	143.0					13																	48828025		2203	4300	6503	SO:0001583	missense	9445				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding	g.chr13:48828025G>T	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.199G>T	13.37:g.48828025G>T	ENSP00000367828:p.Gly67Cys						p.G67C	NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN		GBM - Glioblastoma multiforme(144;1.97e-06)	2	422	+		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	67			Helical; Signal-anchor for type II membrane protein; (Potential).		Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	c.199G>T	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474115	0.63737	.	.	ENSG00000136156	ENST00000378565;ENST00000378549	T;T	0.46063	1.03;0.88	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.66426	0.2788	M	0.79805	2.47	0.54753	D	0.999987	D	0.89917	1.0	D	0.69307	0.963	T	0.67764	-0.5586	10	0.45353	T	0.12	-14.1697	18.079	0.89437	0.0:0.0:1.0:0.0	.	67	Q9Y287	ITM2B_HUMAN	C	67	ENSP00000367828:G67C;ENSP00000367811:G67C	ENSP00000367811:G67C	G	+	1	0	ITM2B	47726026	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	9.357000	0.97099	2.592000	0.87571	0.655000	0.94253	GGT		0.378	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999		14	61	1	0	4.14922e-12	0.004007	6.75181e-12	14	61				
NALCN	259232	broad.mit.edu	37	13	102029296	102029296	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr13:102029296G>T	ENST00000251127.6	-	5	568	c.487C>A	c.(487-489)Cca>Aca	p.P163T	NALCN_ENST00000376196.3_Missense_Mutation_p.P163T|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.P163T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	163					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.P163T(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGGTCCTTGGCAGTTCAAAT	0.378																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(487-489)CCA>ACA		voltage gated channel like 1							68.0	70.0	69.0					13																	102029296		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102029296G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.487C>A	13.37:g.102029296G>T	ENSP00000251127:p.Pro163Thr					NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.P163T|NALCN_uc001vpa.2_Missense_Mutation_p.P163T	p.P163T	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			5	676	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		163			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.487C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417436	0.83449	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98296	-4.85;-4.85;-4.85	4.92	4.92	0.64577	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99494	1.0951	10	0.39692	T	0.17	.	18.1641	0.89719	0.0:0.0:1.0:0.0	.	163;163	F2Z323;Q8IZF0	.;NALCN_HUMAN	T	163	ENSP00000251127:P163T;ENSP00000365367:P163T;ENSP00000365373:P163T	ENSP00000251127:P163T	P	-	1	0	NALCN	100827297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.283000	0.76528	0.650000	0.86243	CCA		0.378	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		13	54	1	0	2.27111e-07	0.001368	3.35891e-07	13	54				
OR4L1	122742	broad.mit.edu	37	14	20528948	20528948	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:20528948C>G	ENST00000315683.1	+	1	745	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L249V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGGTCACTCTGTTCTTTGG	0.408																																							uc001vwn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(745-747)CTG>GTG		olfactory receptor, family 4, subfamily L,							157.0	142.0	147.0					14																	20528948		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528948C>G		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.745C>G	14.37:g.20528948C>G	ENSP00000319217:p.Leu249Val						p.L249V	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	745	+	all_cancers(95;0.00108)		249			Helical; Name=6; (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.745C>G	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.528041	0.44969	.	.	ENSG00000176246	ENST00000315683	T	0.00265	8.39	4.13	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	D	0.000813	T	0.00468	0.0015	M	0.82433	2.59	0.26463	N	0.975419	D	0.76494	0.999	D	0.71414	0.973	T	0.37731	-0.9693	10	0.72032	D	0.01	.	5.1972	0.15245	0.2029:0.6901:0.0:0.1071	.	249	Q8NH43	OR4L1_HUMAN	V	249	ENSP00000319217:L249V	ENSP00000319217:L249V	L	+	1	2	OR4L1	19598788	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-4.451000	0.00232	1.084000	0.41184	0.650000	0.86243	CTG		0.408	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			24	114	0	0	0	0.00278	0	24	114				
CHD8	57680	broad.mit.edu	37	14	21860803	21860803	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:21860803G>C	ENST00000557364.1	-	34	6897	c.6634C>G	c.(6634-6636)Cca>Gca	p.P2212A	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.P2212A|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.P1933A			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2212					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.P2212A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGGGACTGGAGAGTCACCA	0.552																																							uc001was.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(5797-5799)CCA>GCA		chromodomain helicase DNA binding protein 8							136.0	138.0	137.0					14																	21860803		2098	4217	6315	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860803G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6634C>G	14.37:g.21860803G>C	ENSP00000451601:p.Pro2212Ala					CHD8_uc001war.1_Missense_Mutation_p.P1829A|SNORD9_uc001wat.1_5'Flank	p.P1933A	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	34	5891	-	all_cancers(95;0.00121)		2212					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.5797C>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	9.480	1.097924	0.20552	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	5.27	5.27	0.74061	.	0.137815	0.49916	D	0.000124	T	0.49029	0.1533	N	0.19112	0.55	0.35010	D	0.756825	B	0.20052	0.041	B	0.18561	0.022	T	0.52411	-0.8579	10	0.12430	T	0.62	-10.6781	13.53	0.61617	0.0:0.1567:0.8433:0.0	.	1933	Q9HCK8-2	.	A	1933;2212;1932;2212;49	ENSP00000406288:P1933A;ENSP00000382863:P2212A;ENSP00000451601:P2212A;ENSP00000451071:P49A	ENSP00000262707:P1932A	P	-	1	0	CHD8	20930643	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.843000	0.27640	2.729000	0.93468	0.561000	0.74099	CCA		0.552	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		14	140	0	0	0	0.00245	0	14	140				
CHD8	57680	broad.mit.edu	37	14	21863152	21863152	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:21863152G>A	ENST00000557364.1	-	30	5572	c.5309C>T	c.(5308-5310)gCa>gTa	p.A1770V	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.A1770V|SNORD8_ENST00000363915.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.A1491V			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1770					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.A1770V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCACGTTCTGCAGCCTCTAT	0.527																																							uc001was.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(4471-4473)GCA>GTA		chromodomain helicase DNA binding protein 8							54.0	53.0	53.0					14																	21863152		1952	4143	6095	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863152G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5309C>T	14.37:g.21863152G>A	ENSP00000451601:p.Ala1770Val					CHD8_uc001war.1_Missense_Mutation_p.A1387V|SNORD9_uc001wat.1_5'Flank	p.A1491V	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	30	4566	-	all_cancers(95;0.00121)		1770					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.4472C>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094079	0.56075	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.79749	-1.3;-1.3;-1.3	6.07	6.07	0.98685	.	0.055638	0.64402	D	0.000001	T	0.67524	0.2902	N	0.19112	0.55	0.41589	D	0.988784	B	0.24675	0.109	B	0.22386	0.039	T	0.62671	-0.6805	10	0.16420	T	0.52	-19.7829	14.2896	0.66268	0.0:0.0:0.8512:0.1488	.	1491	Q9HCK8-2	.	V	1491;1770;1490;1770	ENSP00000406288:A1491V;ENSP00000382863:A1770V;ENSP00000451601:A1770V	ENSP00000262707:A1490V	A	-	2	0	CHD8	20932992	0.676000	0.27567	1.000000	0.80357	0.997000	0.91878	2.177000	0.42509	2.885000	0.99019	0.655000	0.94253	GCA		0.527	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		18	63	0	0	0	0.008871	0	18	63				
MYH7	4625	broad.mit.edu	37	14	23893993	23893993	+	Missense_Mutation	SNP	C	C	A	rs372875657		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:23893993C>A	ENST00000355349.3	-	22	2826	c.2664G>T	c.(2662-2664)caG>caT	p.Q888H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	888					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.Q888H(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCACTTGGAGCTGCAGGTCAT	0.607																																							uc001wjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2662-2664)CAG>CAT		myosin, heavy chain 7, cardiac muscle, beta							76.0	63.0	68.0					14																	23893993		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23893993C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2664G>T	14.37:g.23893993C>A	ENSP00000347507:p.Gln888His						p.Q888H	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	22	2770	-	all_cancers(95;2.54e-05)		888			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.2664G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244085	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.93906	-3.31	4.99	3.15	0.36227	.	.	.	.	.	D	0.95056	0.8399	M	0.83692	2.655	0.49389	D	0.999783	P	0.51933	0.949	P	0.58077	0.832	D	0.93465	0.6814	9	0.15066	T	0.55	.	12.3863	0.55335	0.0:0.8562:0.0:0.1438	.	888	P12883	MYH7_HUMAN	H	888	ENSP00000347507:Q888H	ENSP00000347507:Q888H	Q	-	3	2	MYH7	22963833	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.467000	0.22035	1.462000	0.47948	0.655000	0.94253	CAG		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		7	48	1	0	0.00198382	0.001984	0.00247684	7	48				
PRKD1	5587	broad.mit.edu	37	14	30066936	30066936	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:30066936C>A	ENST00000331968.5	-	16	2424	c.2195G>T	c.(2194-2196)cGg>cTg	p.R732L	PRKD1_ENST00000415220.2_Missense_Mutation_p.R740L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R732L(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCCAATGATCCGGGCAAAACC	0.478																																							uc001wqh.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2194-2196)CGG>CTG		protein kinase D1							54.0	57.0	56.0					14																	30066936		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066936C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2195G>T	14.37:g.30066936C>A	ENSP00000333568:p.Arg732Leu						p.R732L	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2376	-	Hepatocellular(127;0.0604)		732			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2195G>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254439	0.95336	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.84298	-1.83;-1.83	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.91294	0.7255	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	D	0.91259	0.5035	10	0.87932	D	0	-11.0088	20.2504	0.98404	0.0:1.0:0.0:0.0	.	732	Q15139	KPCD1_HUMAN	L	732;740	ENSP00000333568:R732L;ENSP00000390535:R740L	ENSP00000333568:R732L	R	-	2	0	PRKD1	29136687	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.850000	0.98022	0.650000	0.86243	CGG		0.478	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		11	55	1	0	2.31682e-05	0.003163	3.14036e-05	11	55				
KLHDC2	23588	broad.mit.edu	37	14	50249171	50249171	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:50249171G>C	ENST00000298307.5	+	11	1901	c.1040G>C	c.(1039-1041)aGa>aCa	p.R347T	KLHDC2_ENST00000557247.1_3'UTR|NEMF_ENST00000556925.1_5'Flank|KLHDC2_ENST00000554589.1_Missense_Mutation_p.R347T	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	347						nucleus (GO:0005634)		p.R347T(1)		endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GTCCATCACAGAGCTGTAAGT	0.368																																							uc001wwx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1039-1041)AGA>ACA		kelch domain containing 2							162.0	162.0	162.0					14																	50249171		2203	4300	6503	SO:0001583	missense	23588					nucleus	protein binding	g.chr14:50249171G>C	AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.1040G>C	14.37:g.50249171G>C	ENSP00000298307:p.Arg347Thr					SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R347T|KLHDC2_uc010anp.2_3'UTR	p.R347T	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN			11	1440	+	all_epithelial(31;0.000959)|Breast(41;0.0117)		347			Kelch 6.		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	c.1040G>C	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353785	0.24512	.	.	ENSG00000165516	ENST00000298307;ENST00000554589	T;T	0.66460	-0.21;3.38	5.81	4.82	0.62117	Kelch-type beta propeller (1);	0.105255	0.64402	D	0.000002	T	0.51822	0.1697	L	0.40543	1.245	0.80722	D	1	B;B	0.30281	0.275;0.079	B;B	0.27076	0.076;0.035	T	0.47262	-0.9131	10	0.25751	T	0.34	-23.7808	7.8611	0.29509	0.1605:0.0:0.8395:0.0	.	347;347	G3V3U8;Q9Y2U9	.;KLDC2_HUMAN	T	347	ENSP00000298307:R347T;ENSP00000451439:R347T	ENSP00000298307:R347T	R	+	2	0	KLHDC2	49318921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.470000	0.53100	2.746000	0.94184	0.655000	0.94253	AGA		0.368	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1			7	88	0	0	0	0.001984	0	7	88				
CGRRF1	10668	broad.mit.edu	37	14	55004779	55004779	+	Splice_Site	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:55004779A>T	ENST00000216420.7	+	6	810		c.e6-1		CGRRF1_ENST00000557512.1_Splice_Site	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1						cell cycle arrest (GO:0007050)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TTTGATTTTCAGCAACTTTTC	0.308																																							uc001xay.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-2		cell growth regulator with ring finger domain 1							16.0	18.0	18.0					14																	55004779		2191	4281	6472	SO:0001630	splice_region_variant	10668				cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	g.chr14:55004779A>T	BC015063	CCDS9719.1	14q22.2	2013-09-20			ENSG00000100532	ENSG00000100532		"""RING-type (C3HC4) zinc fingers"""	15528	protein-coding gene	gene with protein product		606138				8968090	Standard	NM_006568		Approved	CGR19, RNF197	uc001xay.3	Q99675	OTTHUMG00000140308	ENST00000216420.7:c.679-1A>T	14.37:g.55004779A>T						CGRRF1_uc001xaz.2_Splice_Site	p.Q227_splice	NM_006568	NP_006559	Q99675	CGRF1_HUMAN			6	770	+								Q96BX2	Splice_Site	SNP	ENST00000216420.7	37	c.679_splice	CCDS9719.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.647938	0.67358	.	.	ENSG00000100532	ENST00000216420	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8453	0.70257	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CGRRF1	54074529	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.808000	0.86044	2.146000	0.66826	0.482000	0.46254	.		0.308	CGRRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276905.2	NM_006568	Intron	3	25	0	0	0	0.004672	0	3	25				
L3HYPDH	112849	broad.mit.edu	37	14	59942718	59942718	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:59942718T>A	ENST00000247194.4	-	4	921	c.808A>T	c.(808-810)Aga>Tga	p.R270*	L3HYPDH_ENST00000487285.1_Nonsense_Mutation_p.R99*|L3HYPDH_ENST00000543619.1_5'Flank	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	270					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)	p.R270*(1)								L-Proline(DB00172)	GTGGGACTTCTGTCAACCTGT	0.428																																							uc001xee.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(808-810)AGA>TGA		proline racemase-like	L-Proline(DB00172)						96.0	94.0	95.0					14																	59942718		2203	4300	6503	SO:0001587	stop_gained	112849						proline racemase activity	g.chr14:59942718T>A	AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.808A>T	14.37:g.59942718T>A	ENSP00000247194:p.Arg270*						p.R270*	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.14)	4	847	-			270					Q96LJ5	Nonsense_Mutation	SNP	ENST00000247194.4	37	c.808A>T	CCDS9739.1	.	.	.	.	.	.	.	.	.	.	T	37	6.162268	0.97338	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	.	.	.	5.5	4.39	0.52855	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4193	0.44341	0.0:0.0:0.3998:0.6002	.	.	.	.	X	270;99;99	.	.	R	-	1	2	C14orf149	59012471	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.178000	0.31981	2.073000	0.62155	0.383000	0.25322	AGA		0.428	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072254.5	NM_144581		9	74	0	0	0	0.006214	0	9	74				
MAP3K9	4293	broad.mit.edu	37	14	71197272	71197272	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:71197272G>C	ENST00000554752.2	-	12	3139	c.3140C>G	c.(3139-3141)cCt>cGt	p.P1047R	MAP3K9_ENST00000554146.1_Missense_Mutation_p.P775R|MAP3K9_ENST00000553414.1_Missense_Mutation_p.P780R|MAP3K9_ENST00000555993.2_Missense_Mutation_p.P1061R|MAP3K9_ENST00000381250.4_Missense_Mutation_p.P1024R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1047					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.P1061R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGAAGTCCAGGCCGCTCCTC	0.662																																					GBM(114;411 1587 13539 28235 50070)	GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NA																	1	Substitution - Missense(1)		lung(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3139-3141)CCT>CGT		mitogen-activated protein kinase kinase kinase							47.0	43.0	44.0					14																	71197272		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71197272G>C	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3140C>G	14.37:g.71197272G>C	ENSP00000451612:p.Pro1047Arg					MAP3K9_uc010ttk.1_Missense_Mutation_p.P775R|MAP3K9_uc001xmk.2_Missense_Mutation_p.P780R|MAP3K9_uc001xml.2_Missense_Mutation_p.P1061R	p.P1047R	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	12	3140	-			1047					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.3140C>G		.	.	.	.	.	.	.	.	.	.	G	15.12	2.737988	0.49045	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.78003	-1.14;-1.07;-1.05;-1.13	4.84	4.84	0.62591	.	0.254329	0.41294	D	0.000906	T	0.61426	0.2346	N	0.03608	-0.345	0.39948	D	0.974509	B;B;P;B	0.47253	0.324;0.013;0.892;0.033	B;B;B;B	0.42555	0.078;0.01;0.391;0.023	T	0.73783	-0.3874	10	0.72032	D	0.01	.	17.1053	0.86660	0.0:0.0:1.0:0.0	.	775;1047;1061;780	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	R	1047;1061;780;1024;775;763	ENSP00000451612:P1047R;ENSP00000451038:P780R;ENSP00000370649:P1024R;ENSP00000451921:P775R	ENSP00000005198:P1061R	P	-	2	0	MAP3K9	70267025	1.000000	0.71417	0.961000	0.40146	0.276000	0.26787	3.955000	0.56715	2.524000	0.85096	0.655000	0.94253	CCT		0.662	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			5	52	0	0	0	0.000602	0	5	52				
UNC79	57578	broad.mit.edu	37	14	94041456	94041456	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:94041456T>C	ENST00000393151.2	+	17	2123	c.2123T>C	c.(2122-2124)tTt>tCt	p.F708S	UNC79_ENST00000553484.1_Missense_Mutation_p.F708S|UNC79_ENST00000256339.4_Missense_Mutation_p.F531S|UNC79_ENST00000555664.1_Missense_Mutation_p.F708S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	708					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F708S(1)|p.F531S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ATAAGTATGTTTTCTGATGGA	0.368																																							uc001ybv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(1591-1593)TTT>TCT		hypothetical protein LOC57578							108.0	109.0	108.0					14																	94041456		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94041456T>C	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.2123T>C	14.37:g.94041456T>C	ENSP00000376858:p.Phe708Ser					KIAA1409_uc001ybs.1_Missense_Mutation_p.F531S	p.F531S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	14	1675	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	708					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1592T>C		.	.	.	.	.	.	.	.	.	.	T	25.0	4.587864	0.86851	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.37915	1.19;1.19;1.17;1.19	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	L	0.39898	1.24	0.58432	D	0.999994	D	0.63046	0.992	D	0.73708	0.981	T	0.54323	-0.8311	10	0.87932	D	0	-6.4336	15.359	0.74453	0.0:0.0:0.0:1.0	.	708	C9JQL1	.	S	531;708;708;708;708	ENSP00000256339:F531S;ENSP00000450868:F708S;ENSP00000451360:F708S;ENSP00000376858:F708S	ENSP00000256339:F531S	F	+	2	0	KIAA1409	93111209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.836000	0.86788	2.079000	0.62486	0.533000	0.62120	TTT		0.368	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	46	0	0	0	0.000602	0	5	46				
UNC79	57578	broad.mit.edu	37	14	94088614	94088614	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:94088614C>G	ENST00000393151.2	+	30	5035	c.5035C>G	c.(5035-5037)Ctg>Gtg	p.L1679V	UNC79_ENST00000553484.1_Missense_Mutation_p.L1701V|UNC79_ENST00000256339.4_Missense_Mutation_p.L1502V|UNC79_ENST00000555664.1_Missense_Mutation_p.L1679V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1679					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L1701V(1)|p.L1502V(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGTCCTCAGCCTGAGCACAGC	0.527																																							uc001ybv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4570-4572)CTG>GTG		hypothetical protein LOC57578							78.0	83.0	81.0					14																	94088614		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088614C>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5035C>G	14.37:g.94088614C>G	ENSP00000376858:p.Leu1679Val					KIAA1409_uc001ybs.1_Missense_Mutation_p.L1502V	p.L1524V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4653	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1679					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4570C>G		.	.	.	.	.	.	.	.	.	.	C	5.765	0.325592	0.10900	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.28255	1.68;1.62;1.69;1.68	5.3	4.3	0.51218	.	0.154277	0.40385	N	0.001105	T	0.20129	0.0484	L	0.29908	0.895	0.33000	D	0.526077	B	0.29627	0.252	B	0.30855	0.121	T	0.17198	-1.0377	10	0.18710	T	0.47	-5.5537	9.1545	0.36985	0.0:0.8024:0.0:0.1976	.	1701	C9JQL1	.	V	1502;1679;1701;1679;1701	ENSP00000256339:L1502V;ENSP00000450868:L1679V;ENSP00000451360:L1701V;ENSP00000376858:L1679V	ENSP00000256339:L1502V	L	+	1	2	KIAA1409	93158367	1.000000	0.71417	0.994000	0.49952	0.516000	0.34256	1.315000	0.33608	2.494000	0.84150	0.313000	0.20887	CTG		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		8	74	0	0	0	0.006214	0	8	74				
PPP4R4	57718	broad.mit.edu	37	14	94708736	94708736	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr14:94708736C>T	ENST00000304338.3	+	11	1411	c.1257C>T	c.(1255-1257)tgC>tgT	p.C419C		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	419					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.C419*(1)|p.C419C(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TTGCTATTTGCTTTTATGAAG	0.323																																							uc001ycs.1		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(1255-1257)TGC>TGT		HEAT-like repeat-containing protein isoform 1							191.0	186.0	187.0					14																	94708736		2203	4300	6503	SO:0001819	synonymous_variant	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94708736C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1257C>T	14.37:g.94708736C>T							p.C419C	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			11	1411	+			419			HEAT 3.		Q9BUF8|Q9HCF0	Silent	SNP	ENST00000304338.3	37	c.1257C>T	CCDS9921.1																																																																																				0.323	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		9	110	0	0	0	0.004482	0	9	110				
GABRG3	2567	broad.mit.edu	37	15	27222202	27222202	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:27222202G>T	ENST00000333743.6	+	2	361	c.107G>T	c.(106-108)tGg>tTg	p.W36L	GABRG3_ENST00000555083.1_Missense_Mutation_p.W36L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	36					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.W36L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACCAAAAGTGGGTCTTGGCT	0.423																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)TGG>TTG		gamma-aminobutyric acid (GABA) A receptor, gamma							99.0	97.0	97.0					15																	27222202		1861	4086	5947	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27222202G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.107G>T	15.37:g.27222202G>T	ENSP00000331912:p.Trp36Leu					GABRG3_uc001zbf.2_Missense_Mutation_p.W36L	p.W36L	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	2	273	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	36			Extracellular (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.107G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614687	0.87359	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	T;T	0.80393	-1.37;0.71	5.28	5.28	0.74379	.	1.289220	0.05147	N	0.495292	D	0.90428	0.7003	M	0.67397	2.05	0.51767	D	0.999935	P;D	0.89917	0.599;1.0	B;D	0.91635	0.354;0.999	T	0.80544	-0.1335	10	0.33940	T	0.23	.	18.2405	0.89966	0.0:0.0:1.0:0.0	.	36;36	Q99928;G3V594	GBRG3_HUMAN;.	L	36	ENSP00000331912:W36L;ENSP00000452244:W36L	ENSP00000331912:W36L	W	+	2	0	GABRG3	24804948	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.211000	0.65219	2.618000	0.88619	0.557000	0.71058	TGG		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			18	66	1	0	3.41278e-10	0.00499	5.41426e-10	18	66				
RYR3	6263	broad.mit.edu	37	15	33954863	33954863	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:33954863G>T	ENST00000389232.4	+	35	5202	c.5132G>T	c.(5131-5133)cGa>cTa	p.R1711L	RYR3_ENST00000415757.3_Missense_Mutation_p.R1711L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1711	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R1711L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCCACATCCGAGACCCTGTA	0.562																																							uc001zhi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5131-5133)CGA>CTA		ryanodine receptor 3							72.0	79.0	77.0					15																	33954863		2062	4233	6295	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33954863G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5132G>T	15.37:g.33954863G>T	ENSP00000373884:p.Arg1711Leu					RYR3_uc010bar.2_Missense_Mutation_p.R1711L	p.R1711L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	35	5202	+		all_lung(180;7.18e-09)	1711			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5132G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087131	0.94100	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.75367	-0.93;-0.93	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	D	0.87884	0.6290	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	0.966;1.0	P;D	0.91635	0.72;0.999	D	0.88822	0.3299	10	0.87932	D	0	.	19.3887	0.94570	0.0:0.0:1.0:0.0	.	1711;1711	Q15413-2;Q15413	.;RYR3_HUMAN	L	1711	ENSP00000373884:R1711L;ENSP00000399610:R1711L	ENSP00000354735:R1711L	R	+	2	0	RYR3	31742155	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	9.349000	0.97066	2.826000	0.97356	0.655000	0.94253	CGA		0.562	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			9	55	1	0	0.00448238	0.004482	0.00553089	9	55				
SPTBN5	51332	broad.mit.edu	37	15	42166580	42166580	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:42166580G>A	ENST00000320955.6	-	24	4826	c.4599C>T	c.(4597-4599)ctC>ctT	p.L1533L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1533					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.L1533L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTACCCAAGAGAGCTCCATGT	0.617																																							uc001zos.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4492-4494)CTC>CTT		spectrin, beta, non-erythrocytic 5							82.0	86.0	85.0					15																	42166580		2016	4156	6172	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42166580G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4599C>T	15.37:g.42166580G>A							p.L1498L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	24	4827	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1533			Spectrin 12.			Silent	SNP	ENST00000320955.6	37	c.4494C>T																																																																																					0.617	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		18	56	0	0	0	0.00499	0	18	56				
MAP1A	4130	broad.mit.edu	37	15	43820365	43820365	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:43820365C>A	ENST00000300231.5	+	4	7144	c.6694C>A	c.(6694-6696)Cag>Aag	p.Q2232K	MAP1A_ENST00000399453.1_Missense_Mutation_p.Q2232K|MAP1A_ENST00000382031.1_Missense_Mutation_p.Q2470K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2232					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.Q2232K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCACTGCCCCAGCTCCCATC	0.637																																							uc001zrt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(6694-6696)CAG>AAG		microtubule-associated protein 1A	Estramustine(DB01196)						76.0	82.0	80.0					15																	43820365		1908	4108	6016	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820365C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6694C>A	15.37:g.43820365C>A	ENSP00000300231:p.Gln2232Lys						p.Q2232K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	7161	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2232					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.6694C>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.844038	0.32606	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01495	4.83;4.83;4.83	4.56	4.56	0.56223	.	0.000000	0.32244	N	0.006371	T	0.01558	0.0050	L	0.36672	1.1	0.36066	D	0.841786	B	0.28713	0.22	B	0.25614	0.062	T	0.35276	-0.9795	10	0.05721	T	0.95	-9.0541	10.1171	0.42598	0.2154:0.7846:0.0:0.0	.	2232	P78559	MAP1A_HUMAN	K	2470;2232;2232	ENSP00000371462:Q2470K;ENSP00000382380:Q2232K;ENSP00000300231:Q2232K	ENSP00000300231:Q2232K	Q	+	1	0	MAP1A	41607657	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	1.949000	0.40313	2.359000	0.80004	0.561000	0.74099	CAG		0.637	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		15	97	1	0	1.52009e-12	0.003163	2.49279e-12	15	97				
DMXL2	23312	broad.mit.edu	37	15	51743895	51743895	+	Splice_Site	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:51743895C>G	ENST00000251076.5	-	41	8918		c.e41-1		RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCAAACATTTCTTTTAAAGAA	0.318																																							uc002abf.2		NA																	1	Unknown(1)		lung(1)	ovary(6)|skin(3)	9						c.e41-1		Dmx-like 2							67.0	65.0	66.0					15																	51743895		2196	4292	6488	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51743895C>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8631-1G>C	15.37:g.51743895C>G						DMXL2_uc002abd.2_Splice_Site_p.R969_splice|DMXL2_uc010ufy.1_Splice_Site_p.R2878_splice|DMXL2_uc010bfa.2_Splice_Site_p.R2241_splice|DMXL2_uc002abc.2_5'Flank	p.R2877_splice	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	41	8856	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37	c.8631_splice	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111622	0.77210	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6436	0.95767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49531187	1.000000	0.71417	0.998000	0.56505	0.859000	0.49053	7.146000	0.77373	2.621000	0.88768	0.650000	0.86243	.		0.318	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	10	38	0	0	0	0.00245	0	10	38				
HCN4	10021	broad.mit.edu	37	15	73617680	73617680	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:73617680C>A	ENST00000261917.3	-	5	2689	c.1696G>T	c.(1696-1698)Gag>Tag	p.E566*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	566					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E566*(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		ATGCTCTCCTCGTCGAACATC	0.667																																							uc002avp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|liver(1)	6						c.(1696-1698)GAG>TAG		hyperpolarization activated cyclic							81.0	83.0	82.0					15																	73617680		2198	4297	6495	SO:0001587	stop_gained	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73617680C>A	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1696G>T	15.37:g.73617680C>A	ENSP00000261917:p.Glu566*						p.E566*	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	5	2690	-			566			Cytoplasmic (Potential).		Q9UMQ7	Nonsense_Mutation	SNP	ENST00000261917.3	37	c.1696G>T	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	c	47	13.658193	0.99755	.	.	ENSG00000138622	ENST00000261917	.	.	.	3.28	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.1215	0.72447	0.0:1.0:0.0:0.0	.	.	.	.	X	566	.	ENSP00000261917:E566X	E	-	1	0	HCN4	71404733	1.000000	0.71417	0.962000	0.40283	0.983000	0.72400	7.494000	0.81503	1.843000	0.53566	0.550000	0.68814	GAG		0.667	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		18	77	1	0	6.49762e-13	0.006122	1.06831e-12	18	77				
ADAMTS17	170691	broad.mit.edu	37	15	100801810	100801810	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr15:100801810C>T	ENST00000268070.4	-	6	1010	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	302	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R302Q(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTCCAGGGACCGCTCACCATG	0.547																																							uc002bvv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(904-906)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1							58.0	45.0	49.0					15																	100801810		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100801810C>T	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.905G>A	15.37:g.100801810C>T	ENSP00000268070:p.Arg302Gln					ADAMTS17_uc002bvx.1_Missense_Mutation_p.R59Q	p.R302Q	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	6	984	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		302			Peptidase M12B.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.905G>A	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577465	0.65878	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.86432	-2.12	5.51	4.6	0.57074	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.063289	0.64402	N	0.000020	T	0.68357	0.2992	N	0.10945	0.07	0.45015	D	0.998039	P;B	0.45044	0.849;0.123	B;B	0.26864	0.074;0.014	T	0.69895	-0.5021	10	0.14252	T	0.57	.	14.4267	0.67220	0.0:0.9292:0.0:0.0708	.	59;302	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	Q	302;59	ENSP00000268070:R302Q	ENSP00000268070:R302Q	R	-	2	0	ADAMTS17	98619333	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.764000	0.55264	1.324000	0.45282	0.655000	0.94253	CGG		0.547	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		4	23	0	0	0	0.000248	0	4	23				
WDR90	197335	broad.mit.edu	37	16	706348	706348	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:706348C>T	ENST00000293879.4	+	18	2013	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L	WDR90_ENST00000549091.1_Silent_p.L671L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	671								p.L671L(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGATGGCCTCCGTGTGCTGT	0.706																																							uc002cii.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2011-2013)CTC>CTT		WD repeat domain 90							14.0	18.0	17.0					16																	706348		2060	4184	6244	SO:0001819	synonymous_variant	197335							g.chr16:706348C>T	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2013C>T	16.37:g.706348C>T						WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.L198L|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	p.L671L	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			18	2067	+		Hepatocellular(780;0.0218)	671			WD 5.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	ENST00000293879.4	37	c.2013C>T	CCDS42092.1																																																																																				0.706	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		3	10	0	0	0	0.004672	0	3	10				
IFT140	9742	broad.mit.edu	37	16	1621515	1621515	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:1621515G>A	ENST00000426508.2	-	14	1908	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	515					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)		p.L515L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGAGAAAAGGAGGAGTTGTT	0.418																																							uc002cmb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(1543-1545)CTC>CTT		intraflagellar transport 140							69.0	64.0	65.0					16																	1621515		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1621515G>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1545C>T	16.37:g.1621515G>A						IFT140_uc002clz.2_Silent_p.L166L	p.L515L	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			14	1907	-		Hepatocellular(780;0.219)	515					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.1545C>T	CCDS10439.1																																																																																				0.418	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	35	0	0	0	0.001984	0	6	35				
SEC14L5	9717	broad.mit.edu	37	16	5064946	5064946	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:5064946A>G	ENST00000251170.7	+	16	2246	c.2066A>G	c.(2065-2067)cAt>cGt	p.H689R	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	689	Ser-rich.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.H689R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCCAGTCTCATAGCAGCTCC	0.642																																							uc002cye.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2065-2067)CAT>CGT		SEC14-like 5							42.0	48.0	46.0					16																	5064946		2115	4247	6362	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5064946A>G	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.2066A>G	16.37:g.5064946A>G	ENSP00000251170:p.His689Arg						p.H689R	NM_014692	NP_055507	O43304	S14L5_HUMAN			16	2246	+			689			Ser-rich.			Missense_Mutation	SNP	ENST00000251170.7	37	c.2066A>G	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.046275	0.55110	.	.	ENSG00000103184	ENST00000251170	T	0.69806	-0.43	4.77	3.64	0.41730	.	0.591337	0.17631	N	0.167365	T	0.61337	0.2339	M	0.63428	1.95	0.42176	D	0.991662	B	0.30763	0.294	B	0.25140	0.058	T	0.60667	-0.7218	10	0.46703	T	0.11	-7.7957	11.7851	0.52037	0.8528:0.1472:0.0:0.0	.	689	O43304	S14L5_HUMAN	R	689	ENSP00000251170:H689R	ENSP00000251170:H689R	H	+	2	0	SEC14L5	5004947	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	6.785000	0.75089	0.917000	0.36895	0.533000	0.62120	CAT		0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			13	64	0	0	0	0.00245	0	13	64				
GRIN2A	2903	broad.mit.edu	37	16	9857858	9857858	+	Silent	SNP	G	G	A	rs369551956		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:9857858G>A	ENST00000396573.2	-	14	3852	c.3543C>T	c.(3541-3543)aaC>aaT	p.N1181N	GRIN2A_ENST00000330684.3_Silent_p.N1181N|GRIN2A_ENST00000396575.2_Silent_p.N1181N|GRIN2A_ENST00000404927.2_Silent_p.N1181N|GRIN2A_ENST00000535259.1_Silent_p.N1024N|GRIN2A_ENST00000562109.1_Silent_p.N1181N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1181					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.N1181N(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TATACTGGTCGTTGTTGGAAA	0.552																																							uc002czo.3		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3541-3543)AAC>AAT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	G	,,	0,4394		0,0,2197	242.0	236.0	238.0		3543,3543,3543	-10.6	0.4	16		238	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	GRIN2A	NM_000833.3,NM_001134407.1,NM_001134408.1	,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	1181/1465,1181/1465,1181/1282	9857858	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857858G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3543C>T	16.37:g.9857858G>A						GRIN2A_uc010uym.1_Silent_p.N1181N|GRIN2A_uc010uyn.1_Silent_p.N1024N|GRIN2A_uc002czr.3_Silent_p.N1181N	p.N1181N	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4091	-			1181			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.3543C>T	CCDS10539.1																																																																																				0.552	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			19	351	0	0	0	0.001523	0	19	351				
GRIN2A	2903	broad.mit.edu	37	16	10032087	10032087	+	Missense_Mutation	SNP	G	G	T	rs555768104		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:10032087G>T	ENST00000396573.2	-	4	1045	c.736C>A	c.(736-738)Ctt>Att	p.L246I	GRIN2A_ENST00000330684.3_Missense_Mutation_p.L246I|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L246I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L246I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L89I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.L246I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	246					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.L246I(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTGAGGCCAAGGGAGCGGGCC	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23263	0.0		0.0	False		,,,				2504	0.0						uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(736-738)CTT>ATT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						75.0	67.0	70.0					16																	10032087		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032087G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.736C>A	16.37:g.10032087G>T	ENSP00000379818:p.Leu246Ile					GRIN2A_uc010uym.1_Missense_Mutation_p.L246I|GRIN2A_uc010uyn.1_Missense_Mutation_p.L89I|GRIN2A_uc002czr.3_Missense_Mutation_p.L246I	p.L246I	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			3	1284	-			246			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.736C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.470852	0.63625	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.2	5.2	0.72013	Extracellular ligand-binding receptor (1);	0.067754	0.64402	D	0.000009	D	0.89897	0.6848	M	0.77616	2.38	0.53005	D	0.999961	B;P;P	0.46395	0.415;0.642;0.877	B;P;P	0.51615	0.202;0.579;0.675	D	0.89727	0.3923	9	.	.	.	.	18.0961	0.89490	0.0:0.0:1.0:0.0	.	89;246;246	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	246;246;89;246;246	ENSP00000379818:L246I;ENSP00000385872:L246I;ENSP00000441572:L89I;ENSP00000332549:L246I;ENSP00000379820:L246I	.	L	-	1	0	GRIN2A	9939588	1.000000	0.71417	0.994000	0.49952	0.698000	0.40448	2.622000	0.46427	2.582000	0.87167	0.561000	0.74099	CTT		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			12	78	1	0	3.07112e-06	0.000978	4.28198e-06	12	78				
ZC3H7A	29066	broad.mit.edu	37	16	11861348	11861348	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:11861348C>T	ENST00000396516.2	-	12	1644	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E483K			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	483						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E483K(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GATTTATCTTCAACATTCTTT	0.289																																							uc002dbk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1447-1449)GAA>AAA		zinc finger CCCH-type containing 7A							144.0	140.0	141.0					16																	11861348		2195	4300	6495	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11861348C>T	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1447G>A	16.37:g.11861348C>T	ENSP00000379773:p.Glu483Lys					ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.E483K|ZC3H7A_uc002dbm.1_Missense_Mutation_p.E393K	p.E483K	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN			12	1645	-			483					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.1447G>A	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.031068	0.75504	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10382	2.88;2.88	5.77	5.77	0.91146	.	0.261673	0.43579	D	0.000551	T	0.30854	0.0778	M	0.63843	1.955	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.65874	0.939;0.933	T	0.00134	-1.2009	10	0.41790	T	0.15	.	18.9808	0.92755	0.0:1.0:0.0:0.0	.	204;483	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	K	483	ENSP00000347999:E483K;ENSP00000379773:E483K	ENSP00000347999:E483K	E	-	1	0	ZC3H7A	11768849	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.846000	0.62860	2.729000	0.93468	0.467000	0.42956	GAA		0.289	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		10	72	0	0	0	0.006214	0	10	72				
ZKSCAN2	342357	broad.mit.edu	37	16	25251807	25251807	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:25251807T>C	ENST00000328086.7	-	7	3037	c.2234A>G	c.(2233-2235)aAg>aGg	p.K745R	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	745					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K745R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GTAGGGTCTCTTCCCCACAAA	0.478																																							uc002dod.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(2233-2235)AAG>AGG		zinc finger with KRAB and SCAN domains 2							86.0	80.0	82.0					16																	25251807		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251807T>C	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2234A>G	16.37:g.25251807T>C	ENSP00000331626:p.Lys745Arg					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.K541R	p.K745R	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	2641	-			745					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.2234A>G	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	T	9.098	1.003448	0.19121	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.07444	3.19	5.41	-2.78	0.05859	.	0.424965	0.23180	N	0.051039	T	0.07954	0.0199	L	0.48986	1.54	0.19945	N	0.99994	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.28332	-1.0047	10	0.49607	T	0.09	-12.935	11.9587	0.52997	0.0:0.537:0.0:0.463	.	541;745	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	R	745	ENSP00000331626:K745R	ENSP00000331626:K745R	K	-	2	0	ZKSCAN2	25159308	0.971000	0.33674	0.954000	0.39281	0.082000	0.17680	1.019000	0.30014	-0.369000	0.08028	0.533000	0.62120	AAG		0.478	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		6	86	0	0	0	0.001168	0	6	86				
IL21R	50615	broad.mit.edu	37	16	27441410	27441410	+	Silent	SNP	C	C	A	rs559479535		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:27441410C>A	ENST00000337929.3	+	2	491	c.18C>A	c.(16-18)gcC>gcA	p.A6A	IL21R_ENST00000395754.4_Silent_p.A6A|IL21R_ENST00000395755.1_Silent_p.A6A|IL21R_ENST00000564089.1_Silent_p.A6A	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	6					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)	p.A6A(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GTGGCTGGGCCGCCCCCTTGC	0.721			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|breast(1)	4						c.(16-18)GCC>GCA		interleukin 21 receptor precursor							19.0	20.0	20.0					16																	27441410		2195	4294	6489	SO:0001819	synonymous_variant	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27441410C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.18C>A	16.37:g.27441410C>A						IL21R_uc002dor.1_Silent_p.A6A|IL21R_uc002dos.1_Silent_p.A6A	p.A6A	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			2	251	+			6					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Silent	SNP	ENST00000337929.3	37	c.18C>A	CCDS10630.1																																																																																				0.721	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		5	29	1	0	3.59834e-05	0.001168	4.82573e-05	5	29				
RABEP2	79874	broad.mit.edu	37	16	28926016	28926016	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:28926016C>T	ENST00000358201.4	-	4	1108	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RABEP2_ENST00000544477.1_Missense_Mutation_p.E103K|RABEP2_ENST00000357573.6_Missense_Mutation_p.E174K|RABEP2_ENST00000561803.1_5'Flank	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	174					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.E174K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						ATCAGCTCCTCGGCCCTCAGC	0.677																																					Pancreas(66;639 1284 10093 31061 49099)	Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(520-522)GAG>AAG		rabaptin, RAB GTPase binding effector protein 2							101.0	112.0	109.0					16																	28926016		2045	4173	6218	SO:0001583	missense	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28926016C>T	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.520G>A	16.37:g.28926016C>T	ENSP00000350934:p.Glu174Lys					uc010vct.1_Intron|RABEP2_uc010vdf.1_Missense_Mutation_p.E103K|RABEP2_uc010byn.2_Missense_Mutation_p.E174K|RABEP2_uc002drr.2_Missense_Mutation_p.E174K	p.E174K	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			4	568	-			174			Potential.			Missense_Mutation	SNP	ENST00000358201.4	37	c.520G>A	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960816	0.74016	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.52295	0.69;0.69;0.67	4.84	4.84	0.62591	.	0.669254	0.14623	N	0.308302	T	0.57946	0.2088	L	0.27053	0.805	0.45777	D	0.998669	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.73708	0.981;0.981;0.958;0.981	T	0.60840	-0.7183	10	0.62326	D	0.03	-22.9798	17.101	0.86649	0.0:1.0:0.0:0.0	.	103;174;174;174	B4DHR0;Q9H5N1-2;Q49AT6;Q9H5N1	.;.;.;RABE2_HUMAN	K	174;174;103	ENSP00000350934:E174K;ENSP00000350186:E174K;ENSP00000442798:E103K	ENSP00000350186:E174K	E	-	1	0	RABEP2	28833517	1.000000	0.71417	0.931000	0.37212	0.106000	0.19336	5.332000	0.65911	2.410000	0.81850	0.462000	0.41574	GAG		0.677	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		13	127	0	0	0	0.00499	0	13	127				
PHKG2	5261	broad.mit.edu	37	16	30762447	30762447	+	Missense_Mutation	SNP	G	G	T	rs373732367		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:30762447G>T	ENST00000563588.1	+	3	355	c.116G>T	c.(115-117)cGc>cTc	p.R39L	PHKG2_ENST00000424889.3_Missense_Mutation_p.R39L|PHKG2_ENST00000328273.7_Missense_Mutation_p.R39L|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	39	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.R39L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCTGTGGTCCGCCGTTGTGTT	0.577																																							uc002dzk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(115-117)CGC>CTC		phosphorylase kinase, gamma 2 (testis)							76.0	66.0	69.0					16																	30762447		2197	4300	6497	SO:0001583	missense	5261				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr16:30762447G>T	S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.116G>T	16.37:g.30762447G>T	ENSP00000455607:p.Arg39Leu					PHKG2_uc002dzi.1_Missense_Mutation_p.R39L|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.R39L	p.R39L	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Colorectal(24;0.198)		3	209	+			39			Protein kinase.		A8K0C7|B4DEB7|E9PEU3|P11800	Missense_Mutation	SNP	ENST00000563588.1	37	c.116G>T	CCDS10690.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178275	0.94846	.	.	ENSG00000156873	ENST00000328273;ENST00000424889	T;T	0.38240	1.15;1.15	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41001	D	0.000969	T	0.47525	0.1450	N	0.20881	0.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.52200	-0.8607	10	0.72032	D	0.01	-14.1943	16.9267	0.86178	0.0:0.0:1.0:0.0	.	31;39;39	Q16221;P15735;P15735-2	.;PHKG2_HUMAN;.	L	39	ENSP00000329968:R39L;ENSP00000388571:R39L	ENSP00000329968:R39L	R	+	2	0	PHKG2	30669948	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.263000	0.95617	2.514000	0.84764	0.655000	0.94253	CGC		0.577	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255531.2	NM_000294		7	55	1	0	0.000157383	0.00308	0.000204987	7	55				
ITGAX	3687	broad.mit.edu	37	16	31373976	31373976	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:31373976G>T	ENST00000268296.4	+	12	1382	c.1261G>T	c.(1261-1263)Gtc>Ttc	p.V421F	ITGAX_ENST00000562522.1_Missense_Mutation_p.V421F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	421					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.V421F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCAGAGCCTGGTCCTGGGGGC	0.657																																							uc002ebu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1261-1263)GTC>TTC		integrin alpha X precursor							23.0	23.0	23.0					16																	31373976		2197	4299	6496	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373976G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1261G>T	16.37:g.31373976G>T	ENSP00000268296:p.Val421Phe					ITGAX_uc002ebt.2_Missense_Mutation_p.V421F|ITGAX_uc010vfk.1_Missense_Mutation_p.V71F	p.V421F	NM_000887	NP_000878	P20702	ITAX_HUMAN			12	1328	+			421			FG-GAP 4.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1261G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.537318	0.45176	.	.	ENSG00000140678	ENST00000268296	T	0.08807	3.05	3.91	-0.56	0.11789	.	.	.	.	.	T	0.26159	0.0638	M	0.90369	3.11	0.18873	N	0.999981	D	0.71674	0.998	P	0.59889	0.865	T	0.05716	-1.0868	9	0.56958	D	0.05	.	8.0514	0.30581	0.3716:0.0:0.6284:0.0	.	421	P20702	ITAX_HUMAN	F	421	ENSP00000268296:V421F	ENSP00000268296:V421F	V	+	1	0	ITGAX	31281477	0.177000	0.23109	0.691000	0.30163	0.925000	0.55904	0.002000	0.13061	-0.304000	0.08843	0.448000	0.29417	GTC		0.657	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		5	20	1	0	3.59834e-05	0.001168	4.82573e-05	5	20				
SHCBP1	79801	broad.mit.edu	37	16	46615701	46615701	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:46615701C>A	ENST00000303383.3	-	13	2225	c.1959G>T	c.(1957-1959)ggG>ggT	p.G653G		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	653					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.G653G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCCCCACAATCCCAACAAACA	0.428																																							uc002eec.3		NA																	2	Substitution - coding silent(2)	p.G653G(1)	ovary(1)|lung(1)	ovary(1)|breast(1)	2						c.(1957-1959)GGG>GGT		SHC SH2-domain binding protein 1							230.0	198.0	209.0					16																	46615701		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46615701C>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1959G>T	16.37:g.46615701C>A							p.G653G	NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN			13	1999	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	653					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.1959G>T	CCDS10720.1																																																																																				0.428	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		18	101	1	0	1.9806e-07	0.002299	2.97795e-07	18	101				
NFAT5	10725	broad.mit.edu	37	16	69725991	69725991	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:69725991G>A	ENST00000354436.2	+	12	2527	c.2209G>A	c.(2209-2211)Gca>Aca	p.A737T	NFAT5_ENST00000566899.1_Missense_Mutation_p.A661T|NFAT5_ENST00000349945.1_Missense_Mutation_p.A661T|NFAT5_ENST00000567239.1_Missense_Mutation_p.A754T|NFAT5_ENST00000393742.2_Missense_Mutation_p.A661T|NFAT5_ENST00000432919.1_Missense_Mutation_p.A755T	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	737					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A661T(1)|p.A755T(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGACTGAGGCATCACAACA	0.408																																							uc002exm.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2209-2211)GCA>ACA		nuclear factor of activated T-cells 5 isoform c							175.0	156.0	163.0					16																	69725991		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69725991G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2209G>A	16.37:g.69725991G>A	ENSP00000346420:p.Ala737Thr					NFAT5_uc002exi.2_Missense_Mutation_p.A661T|NFAT5_uc002exj.1_Missense_Mutation_p.A661T|NFAT5_uc002exk.1_Missense_Mutation_p.A661T|NFAT5_uc002exl.1_Missense_Mutation_p.A755T|NFAT5_uc002exn.1_Missense_Mutation_p.A754T|NFAT5_uc002exo.1_5'Flank	p.A737T	NM_006599	NP_006590	O94916	NFAT5_HUMAN			12	3417	+			737					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2209G>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334037	0.41297	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	6.08	1.91	0.25777	.	0.750967	0.12986	N	0.422832	T	0.38054	0.1026	L	0.51422	1.61	0.26999	N	0.964967	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.26292	-1.0107	10	0.28530	T	0.3	0.8574	7.6441	0.28311	0.187:0.0:0.6926:0.1204	.	754;737;755	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	T	755;754;661;737;661	ENSP00000396538:A755T;ENSP00000338806:A661T;ENSP00000346420:A737T;ENSP00000377343:A661T	ENSP00000338806:A661T	A	+	1	0	NFAT5	68283492	0.228000	0.23718	0.377000	0.26055	0.760000	0.43138	1.044000	0.30329	0.444000	0.26612	0.655000	0.94253	GCA		0.408	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		15	60	0	0	0	0.003163	0	15	60				
DPEP1	1800	broad.mit.edu	37	16	89704489	89704489	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:89704489G>A	ENST00000393092.3	+	11	1386	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	DPEP1_ENST00000421184.1_Silent_p.E365E|DPEP1_ENST00000261615.4_Silent_p.E365E	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	365					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.E365E(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTCCCGAGGAGGAGCCCATCC	0.687																																							uc010cin.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1093-1095)GAG>GAA		dipeptidase 1 precursor	Cilastatin(DB01597)						38.0	43.0	41.0					16																	89704489		2187	4294	6481	SO:0001819	synonymous_variant	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89704489G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1095G>A	16.37:g.89704489G>A						DPEP1_uc002fnr.3_Silent_p.E365E|DPEP1_uc002fns.3_Silent_p.E365E	p.E365E	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	11	1298	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	365					D3DX80|Q96AK2	Silent	SNP	ENST00000393092.3	37	c.1095G>A	CCDS10982.1																																																																																				0.687	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		3	14	0	0	0	0.004672	0	3	14				
DPEP1	1800	broad.mit.edu	37	16	89704574	89704574	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr16:89704574T>G	ENST00000393092.3	+	11	1471	c.1180T>G	c.(1180-1182)Tgg>Ggg	p.W394G	DPEP1_ENST00000421184.1_Missense_Mutation_p.W394G|DPEP1_ENST00000261615.4_Missense_Mutation_p.W394G	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	394					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.W394G(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCATCGCCACTGGGGGCTCCT	0.662																																							uc010cin.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1180-1182)TGG>GGG		dipeptidase 1 precursor	Cilastatin(DB01597)						31.0	38.0	36.0					16																	89704574		2190	4287	6477	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89704574T>G		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1180T>G	16.37:g.89704574T>G	ENSP00000376807:p.Trp394Gly					DPEP1_uc002fnr.3_Missense_Mutation_p.W394G|DPEP1_uc002fns.3_Missense_Mutation_p.W394G	p.W394G	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	11	1383	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	394					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.1180T>G	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	t	3.560	-0.089927	0.07053	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.20738	2.05;2.05;2.05	5.13	-1.15	0.09709	.	2.162550	0.01676	N	0.025874	T	0.12433	0.0302	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12760	-1.0535	10	0.23302	T	0.38	-16.5379	1.1839	0.01851	0.1574:0.4264:0.1439:0.2723	.	394	P16444	DPEP1_HUMAN	G	394	ENSP00000397313:W394G;ENSP00000376807:W394G;ENSP00000261615:W394G	ENSP00000261615:W394G	W	+	1	0	DPEP1	88232075	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.197000	0.09518	-0.414000	0.07495	-0.344000	0.07964	TGG		0.662	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		6	33	0	0	0	0.001984	0	6	33				
SPAG7	9552	broad.mit.edu	37	17	4863187	4863187	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:4863187C>T	ENST00000206020.3	-	6	509	c.442G>A	c.(442-444)Gag>Aag	p.E148K	SPAG7_ENST00000573366.1_Missense_Mutation_p.E97K|SPAG7_ENST00000575142.1_Missense_Mutation_p.E137K	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	148						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.E148K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGGGCTGCCTCCTCCTCTTGC	0.662																																							uc002gae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(442-444)GAG>AAG		sperm associated antigen 7							49.0	53.0	52.0					17																	4863187		2098	4220	6318	SO:0001583	missense	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863187C>T	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.442G>A	17.37:g.4863187C>T	ENSP00000206020:p.Glu148Lys					SPAG7_uc002gad.2_Missense_Mutation_p.E97K|SPAG7_uc002gaf.2_Missense_Mutation_p.E148K	p.E148K	NM_004890	NP_004881	O75391	SPAG7_HUMAN			6	475	-			148					Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.442G>A	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566660	0.28003	.	.	ENSG00000091640	ENST00000206020	.	.	.	5.1	5.1	0.69264	.	0.226547	0.43747	D	0.000522	T	0.43055	0.1230	L	0.27053	0.805	0.35725	D	0.817486	B	0.27559	0.181	B	0.18561	0.022	T	0.47674	-0.9099	9	0.19590	T	0.45	-4.837	16.0394	0.80651	0.0:1.0:0.0:0.0	.	148	O75391	SPAG7_HUMAN	K	148	.	ENSP00000206020:E148K	E	-	1	0	SPAG7	4803910	0.993000	0.37304	0.991000	0.47740	0.766000	0.43426	4.273000	0.58914	2.652000	0.90054	0.561000	0.74099	GAG		0.662	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		11	60	0	0	0	0.000978	0	11	60				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656|rs397516437		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:7577547C>A	ENST00000269305.4	-	7	923	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000420246.2_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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)	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		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)GGC>GTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|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.chr17:7577547C>A	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.734G>T	17.37:g.7577547C>A	ENSP00000269305:p.Gly245Val	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.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V	p.G245V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|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.734G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563102	0.86335	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	V	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245V;ENSP00000352610:G245V;ENSP00000269305:G245V;ENSP00000398846:G245V;ENSP00000391127:G245V;ENSP00000391478:G245V;ENSP00000425104:G113V;ENSP00000423862:G152V	ENSP00000269305:G245V	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	60	1	0	4.7546e-09	0.004007	7.37663e-09	14	60				
MYH2	4620	broad.mit.edu	37	17	10448670	10448670	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:10448670C>A	ENST00000245503.5	-	5	882	c.498G>T	c.(496-498)atG>atT	p.M166I	MYH2_ENST00000397183.2_Missense_Mutation_p.M166I|MYH2_ENST00000532183.2_Missense_Mutation_p.M166I|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	166	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.M166I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCAGTCAGCATGAACTGAT	0.522																																							uc010coi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(496-498)ATG>ATT		myosin heavy chain IIa							198.0	199.0	199.0					17																	10448670		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10448670C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.498G>T	17.37:g.10448670C>A	ENSP00000245503:p.Met166Ile					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.M166I|MYH2_uc010coj.2_Missense_Mutation_p.M166I	p.M166I	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			5	626	-			166			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.498G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.270028	0.59540	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.47852	U	0.000220	D	0.96685	0.8918	H	0.95294	3.65	0.80722	D	1	P;B	0.40794	0.729;0.07	D;B	0.68192	0.956;0.303	D	0.96749	0.9552	10	0.66056	D	0.02	.	18.8439	0.92196	0.0:1.0:0.0:0.0	.	166;166	Q567P6;Q9UKX2	.;MYH2_HUMAN	I	166	ENSP00000433944:M166I;ENSP00000245503:M166I;ENSP00000380367:M166I;ENSP00000399348:M166I	ENSP00000245503:M166I	M	-	3	0	MYH2	10389395	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.810000	0.86072	2.706000	0.92434	0.650000	0.86243	ATG		0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		44	245	1	0	8.0703e-11	0.00361	1.29657e-10	44	245				
DNAH9	1770	broad.mit.edu	37	17	11687720	11687720	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:11687720C>T	ENST00000262442.4	+	41	7993	c.7925C>T	c.(7924-7926)gCg>gTg	p.A2642V	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2642V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2642	AAA 3. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A2642V(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACTTCCCGGCGTCCCTGCAG	0.547																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7924-7926)GCG>GTG		dynein, axonemal, heavy chain 9 isoform 2							176.0	168.0	171.0					17																	11687720		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11687720C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.7925C>T	17.37:g.11687720C>T	ENSP00000262442:p.Ala2642Val					DNAH9_uc010coo.2_Missense_Mutation_p.A1936V	p.A2642V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	41	7993	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2642			AAA 3 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7925C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.356190	0.01245	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.36699	1.24;1.24	5.56	1.35	0.21983	.	0.509864	0.20467	N	0.091774	T	0.17109	0.0411	N	0.20530	0.585	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.13415	-1.0510	10	0.28530	T	0.3	.	1.0538	0.01586	0.2081:0.3493:0.2334:0.2092	.	2642	Q9NYC9	DYH9_HUMAN	V	2642;2642;1224	ENSP00000262442:A2642V;ENSP00000414874:A2642V	ENSP00000262442:A2642V	A	+	2	0	DNAH9	11628445	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.101000	0.10973	0.050000	0.15949	-0.163000	0.13421	GCG		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		24	143	0	0	0	0.00333	0	24	143				
MIEF2	125170	broad.mit.edu	37	17	18167939	18167939	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:18167939T>G	ENST00000323019.4	+	4	1437	c.1226T>G	c.(1225-1227)aTc>aGc	p.I409S	MIEF2_ENST00000395704.4_3'UTR|MIEF2_ENST00000395706.2_Missense_Mutation_p.I420S	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	409					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.I409S(1)									GAGCTGCTCATCGGCAGCCTG	0.632																																							uc002gst.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)ATC>AGC		Smith-Magenis syndrome chromosome region,							46.0	44.0	45.0					17																	18167939		2202	4300	6502	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167939T>G	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1226T>G	17.37:g.18167939T>G	ENSP00000323591:p.Ile409Ser					SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.I420S	p.I409S	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	1437	+	all_neural(463;0.228)		409					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.1226T>G	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009825	0.54361	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.07444	3.19;3.19	5.45	5.45	0.79879	.	0.724891	0.13604	N	0.375614	T	0.20210	0.0486	L	0.39898	1.24	0.20926	N	0.999828	P	0.51147	0.942	P	0.60012	0.867	T	0.07139	-1.0788	10	0.66056	D	0.02	-1.1509	15.5102	0.75776	0.0:0.0:0.0:1.0	.	409	Q96C03	MID49_HUMAN	S	409;420	ENSP00000323591:I409S;ENSP00000379057:I420S	ENSP00000323591:I409S	I	+	2	0	SMCR7	18108664	0.983000	0.35010	0.002000	0.10522	0.910000	0.53928	7.905000	0.87416	2.073000	0.62155	0.379000	0.24179	ATC		0.632	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		11	57	0	0	0	0.008291	0	11	57				
UBBP4	23666	broad.mit.edu	37	17	21731267	21731267	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:21731267C>G	ENST00000584755.1	+	2	966	c.569C>G	c.(568-570)cCg>cGg	p.P190R	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.P190R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCATCCCCCCGATCAGCAGA	0.547																																							uc002gyy.3		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(568-570)CCG>CGG		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731267C>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.569C>G	17.37:g.21731267C>G	ENSP00000463647:p.Pro190Arg						p.P190R							2	694	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.569C>G																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			28	98	0	0	0	0.005443	0	28	98				
NEK8	284086	broad.mit.edu	37	17	27061971	27061971	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:27061971C>T	ENST00000268766.6	+	3	469	c.435C>T	c.(433-435)atC>atT	p.I145I	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.I145I(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TCGTCAAGATCGGTGATTTCG	0.562																																					NSCLC(6;19 293 14866 25253 49845)	NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(433-435)ATC>ATT		NIMA-related kinase 8							211.0	170.0	184.0					17																	27061971		2203	4300	6503	SO:0001819	synonymous_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27061971C>T	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.435C>T	17.37:g.27061971C>T							p.I145I	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			3	435	+	Lung NSC(42;0.0158)		145			Protein kinase.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Silent	SNP	ENST00000268766.6	37	c.435C>T	CCDS32597.1																																																																																				0.562	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			29	107	0	0	0	0.001786	0	29	107				
MYO18A	399687	broad.mit.edu	37	17	27445428	27445428	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:27445428C>G	ENST00000527372.1	-	9	2040	c.1860G>C	c.(1858-1860)gaG>gaC	p.E620D	MYO18A_ENST00000533112.1_Missense_Mutation_p.E620D|MYO18A_ENST00000531253.1_Missense_Mutation_p.E620D|MYO18A_ENST00000354329.4_Missense_Mutation_p.E620D	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	620	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.E620D(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACACATTGTTCTCTGCCAAGT	0.597																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1858-1860)GAG>GAC		myosin 18A isoform a							77.0	81.0	79.0					17																	27445428		1996	4162	6158	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27445428C>G	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1860G>C	17.37:g.27445428C>G	ENSP00000437073:p.Glu620Asp					MYO18A_uc010wbc.1_Missense_Mutation_p.E162D|MYO18A_uc002hds.2_Missense_Mutation_p.E162D|MYO18A_uc010csa.1_Missense_Mutation_p.E620D|MYO18A_uc002hdu.1_Missense_Mutation_p.E620D|MYO18A_uc010wbd.1_Missense_Mutation_p.E289D	p.E620D	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		9	2018	-			620			Myosin head-like.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.1860G>C	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170541	0.57584	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	4.97	4.0	0.46444	Myosin head, motor domain (2);	0.049125	0.85682	D	0.000000	T	0.72162	0.3426	L	0.41124	1.26	0.34875	D	0.743988	P;D;D;D;P	0.71674	0.46;0.996;0.998;0.998;0.807	B;D;D;D;B	0.77557	0.209;0.987;0.99;0.99;0.371	T	0.72043	-0.4409	10	0.11794	T	0.64	.	8.4039	0.32603	0.0:0.7655:0.0:0.2345	.	289;232;620;620;620	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	D	620;620;620;620;620;232	ENSP00000346291:E620D;ENSP00000435932:E620D;ENSP00000434228:E620D;ENSP00000437073:E620D	ENSP00000346291:E620D	E	-	3	2	MYO18A	24469554	0.932000	0.31603	1.000000	0.80357	0.980000	0.70556	0.074000	0.14662	1.315000	0.45114	0.563000	0.77884	GAG		0.597	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		4	21	0	0	0	0.000602	0	4	21				
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																							uc002hjd.2		NA																	4	Substitution - Missense(4)		lung(2)|urinary_tract(1)|prostate(1)		0						c.(1003-1005)AGG>AAG		acyl-malonyl condensing enzyme 1							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	1090	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	73	0	0	0	0.000248	0	4	73				
LASP1	3927	broad.mit.edu	37	17	37070638	37070638	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:37070638G>C	ENST00000318008.6	+	5	749	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	LASP1_ENST00000435347.3_Missense_Mutation_p.E140Q|LASP1_ENST00000433206.2_Missense_Mutation_p.E84Q	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	140					ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)	p.E140Q(1)		breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGAGGGCATGGAGCCAGAGCG	0.632			T	MLL	AML																																		uc002hra.2		NA		Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(418-420)GAG>CAG		LIM and SH3 protein 1							29.0	33.0	32.0					17																	37070638		2203	4299	6502	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37070638G>C		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.418G>C	17.37:g.37070638G>C	ENSP00000325240:p.Glu140Gln					LASP1_uc010cvq.2_Missense_Mutation_p.W17C|LASP1_uc010wdz.1_Missense_Mutation_p.E84Q	p.E140Q	NM_006148	NP_006139	Q14847	LASP1_HUMAN			5	749	+			140					B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.418G>C	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212405	0.39102	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347;ENST00000419929	T;T;T;T	0.38887	1.23;1.11;1.23;2.72	5.24	5.24	0.73138	.	0.407385	0.26304	N	0.025148	T	0.29652	0.0740	N	0.24115	0.695	0.25342	N	0.988948	P;B	0.45078	0.85;0.003	B;B	0.38106	0.265;0.003	T	0.15838	-1.0423	10	0.20519	T	0.43	.	17.3957	0.87444	0.0:0.0:1.0:0.0	.	84;140	B4DGQ0;Q14847	.;LASP1_HUMAN	Q	140;84;140;104	ENSP00000325240:E140Q;ENSP00000401048:E84Q;ENSP00000392853:E140Q;ENSP00000391897:E104Q	ENSP00000325240:E140Q	E	+	1	0	LASP1	34324164	1.000000	0.71417	0.089000	0.20774	0.818000	0.46254	8.194000	0.89721	2.431000	0.82371	0.563000	0.77884	GAG		0.632	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		3	41	0	0	0	0.004672	0	3	41				
FKBP10	60681	broad.mit.edu	37	17	39974664	39974664	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:39974664C>T	ENST00000321562.4	+	4	716	c.612C>T	c.(610-612)taC>taT	p.Y204Y	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	204	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Y204Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGACACCTACGTCGGCTCTG	0.592																																							uc002hxv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(610-612)TAC>TAT		FK506 binding protein 10 precursor							96.0	83.0	87.0					17																	39974664		2203	4300	6503	SO:0001819	synonymous_variant	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974664C>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.612C>T	17.37:g.39974664C>T						FKBP10_uc002hxw.1_5'Flank	p.Y204Y	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	4	937	+		Breast(137;0.00122)	204			PPIase FKBP-type 2.		Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	c.612C>T	CCDS11409.1																																																																																				0.592	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		7	49	0	0	0	0.004482	0	7	49				
ATP6V0A1	535	broad.mit.edu	37	17	40666456	40666456	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:40666456C>T	ENST00000343619.4	+	21	2521	c.2398C>T	c.(2398-2400)Ctc>Ttc	p.L800F	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.L801F|RP11-400F19.18_ENST00000591237.1_RNA|MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.L751F|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.L794F|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.L757F|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.L446F|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.L800F	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	800					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.L794F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGGCCTTTCTCCACGCACT	0.612																																							uc002hzr.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2398-2400)CTC>TTC		ATPase, H+ transporting, lysosomal V0 subunit a1							128.0	109.0	115.0					17																	40666456		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40666456C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2398C>T	17.37:g.40666456C>T	ENSP00000342951:p.Leu800Phe					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.L794F|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.L801F|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.L757F|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.L751F|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.L446F|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.L659F|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.L84F	p.L800F	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	21	2565	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	800			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2398C>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973705	0.74246	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.98218	4.175	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99414	1.0931	10	0.87932	D	0	-19.8328	17.8681	0.88801	0.0:1.0:0.0:0.0	.	751;757;801;800;794	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	F	800;800;794;801;751;446	ENSP00000342951:L800F;ENSP00000444676:L800F;ENSP00000377415:L794F;ENSP00000264649:L801F;ENSP00000443991:L751F;ENSP00000446377:L446F	ENSP00000264649:L801F	L	+	1	0	ATP6V0A1	37919982	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.579000	0.60936	2.468000	0.83385	0.561000	0.74099	CTC		0.612	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		30	143	0	0	0	0.002096	0	30	143				
KANSL1	284058	broad.mit.edu	37	17	44249069	44249069	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:44249069T>A	ENST00000262419.6	-	2	911	c.441A>T	c.(439-441)acA>acT	p.T147T	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000572904.1_Silent_p.T147T|KANSL1_ENST00000432791.1_Silent_p.T147T|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Silent_p.T147T|KANSL1_ENST00000575318.1_Silent_p.T147T	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	147					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T147T(1)									GTGGCAGAGCTGTCTGACCAC	0.438																																							uc002ikb.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(439-441)ACA>ACT		hypothetical protein LOC284058							159.0	223.0	202.0					17																	44249069		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44249069T>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.441A>T	17.37:g.44249069T>A						KIAA1267_uc002ikc.2_Silent_p.T147T|KIAA1267_uc002ikd.2_Silent_p.T147T|KIAA1267_uc010dav.2_Silent_p.T147T	p.T147T	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			1	526	-		Melanoma(429;0.211)	147					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.441A>T	CCDS11503.1																																																																																				0.438	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		49	476	0	0	0	0.00361	0	49	476				
RAD51C	5889	broad.mit.edu	37	17	56780677	56780677	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:56780677C>T	ENST00000337432.4	+	4	763	c.692C>T	c.(691-693)tCa>tTa	p.S231L	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.S231L	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	231					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.S231L(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATTTCCTTTCAGAACACTCA	0.333								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																														uc002iwu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(691-693)TCA>TTA	Homologous_recombination	RAD51 homolog C isoform 1							103.0	103.0	103.0					17																	56780677		2202	4299	6501	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56780677C>T	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.692C>T	17.37:g.56780677C>T	ENSP00000336701:p.Ser231Leu					RAD51C_uc010woa.1_Missense_Mutation_p.S231L|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	p.S231L	NM_058216	NP_478123	O43502	RA51C_HUMAN			4	734	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		231					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.692C>T	CCDS11611.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707733	0.48412	.	.	ENSG00000108384	ENST00000337432;ENST00000425173	T;T	0.68479	-0.33;-0.33	5.61	3.3	0.37823	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.236667	0.44483	N	0.000441	T	0.60444	0.2269	L	0.55481	1.735	0.80722	D	1	B;B	0.14012	0.005;0.009	B;B	0.18561	0.022;0.013	T	0.60581	-0.7235	10	0.45353	T	0.12	-8.2714	12.0562	0.53536	0.0:0.8322:0.0:0.1678	.	222;231	B4E0G0;O43502	.;RA51C_HUMAN	L	231;163	ENSP00000336701:S231L;ENSP00000407282:S163L	ENSP00000336701:S231L	S	+	2	0	RAD51C	54135676	0.974000	0.33945	1.000000	0.80357	0.997000	0.91878	1.267000	0.33050	1.379000	0.46325	0.557000	0.71058	TCA		0.333	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216		10	118	0	0	0	0.001855	0	10	118				
PITPNC1	26207	broad.mit.edu	37	17	65688837	65688837	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:65688837A>T	ENST00000581322.1	+	9	832	c.832A>T	c.(832-834)Acc>Tcc	p.T278S	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000335257.6_Missense_Mutation_p.T278S			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	278					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.T278S(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCTCCATCCACCCCTCTCTC	0.547																																							uc002jgc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(832-834)ACC>TCC		phosphatidylinositol transfer protein,							110.0	115.0	113.0					17																	65688837		1951	4141	6092	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688837A>T	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.832A>T	17.37:g.65688837A>T	ENSP00000464006:p.Thr278Ser					PITPNC1_uc002jgb.2_3'UTR	p.T278S	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1179	+	all_cancers(12;3.03e-10)		278					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.832A>T	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.157512	0.78114	.	.	ENSG00000154217	ENST00000335257	T	0.48836	0.8	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.56775	0.2008	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.49781	-0.8903	10	0.17832	T	0.49	-2.9427	15.8205	0.78638	1.0:0.0:0.0:0.0	.	278	Q9UKF7	PITC1_HUMAN	S	278	ENSP00000335618:T278S	ENSP00000335618:T278S	T	+	1	0	PITPNC1	63119299	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.157000	0.94714	2.201000	0.70794	0.533000	0.62120	ACC		0.547	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		27	137	0	0	0	0.004656	0	27	137				
ABCA8	10351	broad.mit.edu	37	17	66883272	66883272	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:66883272C>A	ENST00000269080.2	-	24	3333		c.e24-1		ABCA8_ENST00000586539.1_Splice_Site|ABCA8_ENST00000430352.2_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CACATGGGATCTAAAATCAAC	0.353																																							uc002jhp.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|skin(1)	3						c.e24-1		ATP-binding cassette, sub-family A member 8							77.0	72.0	74.0					17																	66883272		2203	4300	6503	SO:0001630	splice_region_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66883272C>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3196-1G>T	17.37:g.66883272C>A						ABCA8_uc002jhq.2_Splice_Site_p.I1106_splice|ABCA8_uc010wqq.1_Splice_Site_p.I1106_splice|ABCA8_uc010wqr.1_Intron	p.I1066_splice	NM_007168	NP_009099	O94911	ABCA8_HUMAN			24	3375	-	Breast(10;4.56e-13)							A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	ENST00000269080.2	37	c.3196_splice	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845778	0.51164	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2587	0.66070	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA8	64394867	0.991000	0.36638	0.990000	0.47175	0.620000	0.37586	0.900000	0.28431	2.472000	0.83506	0.655000	0.94253	.		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	Intron	11	22	1	0	3.07112e-06	0.000978	4.28198e-06	11	22				
CD300LB	124599	broad.mit.edu	37	17	72522083	72522083	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:72522083G>A	ENST00000392621.1	-	2	289	c.285C>T	c.(283-285)tgC>tgT	p.C95C	CD300LB_ENST00000314401.3_Silent_p.C95C	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	58	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.C95C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TGAGGATCTTGCATGTATCCC	0.547																																							uc002jkx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(283-285)TGC>TGT		CD300 molecule-like family member b							225.0	202.0	210.0					17																	72522083		2203	4300	6503	SO:0001819	synonymous_variant	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522083G>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.285C>T	17.37:g.72522083G>A						CD300LB_uc010wqz.1_Silent_p.C95C	p.C95C	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			2	298	-			58			Ig-like V-type.|Extracellular (Potential).		Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	c.285C>T	CCDS11700.1																																																																																				0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		34	159	0	0	0	0.003755	0	34	159				
LLGL2	3993	broad.mit.edu	37	17	73569271	73569271	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr17:73569271C>T	ENST00000392550.3	+	20	2754	c.2637C>T	c.(2635-2637)ccC>ccT	p.P879P	LLGL2_ENST00000577200.1_Silent_p.P879P|LLGL2_ENST00000167462.5_Silent_p.P879P	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	879					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.P879P(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCTCGCTGCCCCTGCTCAAGC	0.642																																							uc002joh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2635-2637)CCC>CCT		lethal giant larvae homolog 2 isoform c							59.0	51.0	54.0					17																	73569271		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569271C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2637C>T	17.37:g.73569271C>T						LLGL2_uc002joi.2_Silent_p.P879P|LLGL2_uc010dgg.1_Silent_p.P879P|LLGL2_uc002joj.2_Silent_p.P868P|LLGL2_uc010wsd.1_Silent_p.P506P	p.P879P	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2791	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		879			WD 13.		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.2637C>T	CCDS32733.1																																																																																				0.642	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		11	47	0	0	0	0.001368	0	11	47				
DSG3	1830	broad.mit.edu	37	18	29039937	29039937	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:29039937G>T	ENST00000257189.4	+	6	730	c.647G>T	c.(646-648)gGg>gTg	p.G216V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	216	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G216V(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAAACACTGGGGAAGTCCGT	0.433																																							uc002kws.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(646-648)GGG>GTG		desmoglein 3 preproprotein							73.0	67.0	69.0					18																	29039937		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29039937G>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.647G>T	18.37:g.29039937G>T	ENSP00000257189:p.Gly216Val						p.G216V	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		6	756	+			216			Extracellular (Potential).|Cadherin 2.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.647G>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268233	0.80469	.	.	ENSG00000134757	ENST00000257189	D	0.91464	-2.85	5.13	5.13	0.70059	Cadherin (4);Cadherin-like (1);	0.000000	0.47093	D	0.000242	D	0.97272	0.9108	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98640	1.0675	10	0.87932	D	0	.	18.5318	0.90995	0.0:0.0:1.0:0.0	.	216	P32926	DSG3_HUMAN	V	216	ENSP00000257189:G216V	ENSP00000257189:G216V	G	+	2	0	DSG3	27293935	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.519000	0.81809	2.564000	0.86499	0.561000	0.74099	GGG		0.433	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		8	43	1	0	1.12685e-05	0.004482	1.54393e-05	8	43				
ASXL3	80816	broad.mit.edu	37	18	31322919	31322919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:31322919G>T	ENST00000269197.5	+	12	3107	c.3107G>T	c.(3106-3108)cGa>cTa	p.R1036L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R743L(1)|p.R1036L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTGAGTCTCGAGCATCCACT	0.507																																							uc010dmg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(3106-3108)CGA>CTA		additional sex combs like 3							28.0	31.0	31.0					18																	31322919		1905	4134	6039	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31322919G>T	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.3107G>T	18.37:g.31322919G>T	ENSP00000269197:p.Arg1036Leu					ASXL3_uc002kxq.2_Missense_Mutation_p.R743L	p.R1036L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3162	+			1036					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3107G>T	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144842	0.77888	.	.	ENSG00000141431	ENST00000269197	T	0.52983	0.64	5.9	5.9	0.94986	.	1.506370	0.04208	N	0.331143	T	0.68247	0.2980	M	0.67397	2.05	0.39222	D	0.963526	D	0.65815	0.995	P	0.59357	0.856	T	0.53648	-0.8409	10	0.72032	D	0.01	.	13.4796	0.61328	0.0711:0.0:0.9289:0.0	.	1036	Q9C0F0	ASXL3_HUMAN	L	1036	ENSP00000269197:R1036L	ENSP00000269197:R1036L	R	+	2	0	ASXL3	29576917	0.822000	0.29219	0.701000	0.30321	0.826000	0.46750	2.440000	0.44855	2.786000	0.95864	0.650000	0.86243	CGA		0.507	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			8	17	1	0	1.12685e-05	0.004482	1.54393e-05	8	17				
MOCOS	55034	broad.mit.edu	37	18	33800118	33800118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:33800118G>T	ENST00000261326.5	+	9	1919	c.1898G>T	c.(1897-1899)cGg>cTg	p.R633L		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.R633L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGGAACCCCGGCTCTGCCTG	0.527																																							uc002kzq.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1897-1899)CGG>CTG		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						122.0	108.0	112.0					18																	33800118		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33800118G>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1898G>T	18.37:g.33800118G>T	ENSP00000261326:p.Arg633Leu						p.R633L	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			9	1921	+			633						Missense_Mutation	SNP	ENST00000261326.5	37	c.1898G>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630236	0.67015	.	.	ENSG00000075643	ENST00000261326	T	0.34275	1.37	5.92	5.92	0.95590	MOSC, N-terminal beta barrel (1);Pyruvate kinase-like, insert domain (1);	0.203888	0.40222	N	0.001152	T	0.63283	0.2498	M	0.92880	3.355	0.25997	N	0.982164	D	0.61080	0.989	P	0.60345	0.873	T	0.66188	-0.5986	10	0.59425	D	0.04	-25.7985	11.1292	0.48336	0.083:0.0:0.917:0.0	.	633	Q96EN8	MOCOS_HUMAN	L	633	ENSP00000261326:R633L	ENSP00000261326:R633L	R	+	2	0	MOCOS	32054116	0.984000	0.35163	0.999000	0.59377	0.447000	0.32167	4.463000	0.60128	2.804000	0.96469	0.655000	0.94253	CGG		0.527	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			11	68	1	0	3.07112e-06	0.000978	4.28198e-06	11	68				
SMAD2	4087	broad.mit.edu	37	18	45371730	45371730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:45371730C>A	ENST00000402690.2	-	10	1655	c.1261G>T	c.(1261-1263)Ggg>Tgg	p.G421W	SMAD2_ENST00000356825.4_Missense_Mutation_p.G391W|SMAD2_ENST00000591214.1_Missense_Mutation_p.G391W|SMAD2_ENST00000262160.6_Missense_Mutation_p.G421W|SMAD2_ENST00000586040.1_Missense_Mutation_p.G391W	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	421	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|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)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)	p.G421W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						GCTCCCCACCCTTTCACAAAA	0.388																																							uc002lcy.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|lung(1)|central_nervous_system(1)	5						c.(1261-1263)GGG>TGG		Sma- and Mad-related protein 2 isoform 1							113.0	109.0	111.0					18																	45371730		2203	4300	6503	SO:0001583	missense	4087				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr18:45371730C>A	U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.1261G>T	18.37:g.45371730C>A	ENSP00000384449:p.Gly421Trp					SMAD2_uc002lcz.2_Missense_Mutation_p.G421W|SMAD2_uc010xdc.1_Missense_Mutation_p.G391W|SMAD2_uc010xdd.1_Missense_Mutation_p.G391W	p.G421W	NM_005901	NP_005892	Q15796	SMAD2_HUMAN			10	1509	-			421			MH2.			Missense_Mutation	SNP	ENST00000402690.2	37	c.1261G>T	CCDS11934.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599950	0.87055	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	D;D;D	0.99537	-6.11;-6.11;-6.11	5.63	5.63	0.86233	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97157	0.9835	10	0.87932	D	0	.	19.6959	0.96026	0.0:1.0:0.0:0.0	.	391;391;421	B7Z5N5;Q15796-2;Q15796	.;.;SMAD2_HUMAN	W	421;391;421	ENSP00000262160:G421W;ENSP00000349282:G391W;ENSP00000384449:G421W	ENSP00000262160:G421W	G	-	1	0	SMAD2	43625728	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.818000	0.86416	2.659000	0.90383	0.650000	0.86243	GGG		0.388	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450571.1	NM_005901		16	95	1	0	1.99824e-07	0.00499	2.98322e-07	16	95				
LMAN1	3998	broad.mit.edu	37	18	57013159	57013159	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr18:57013159C>A	ENST00000251047.5	-	8	1664	c.947G>T	c.(946-948)gGg>gTg	p.G316V	LMAN1_ENST00000587940.1_5'Flank	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	316					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.G316V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ACCAGGCTGCCCTTGGAGGTC	0.488																																							uc002lhz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(946-948)GGG>GTG		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						126.0	125.0	125.0					18																	57013159		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57013159C>A	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.947G>T	18.37:g.57013159C>A	ENSP00000251047:p.Gly316Val						p.G316V	NM_005570	NP_005561	P49257	LMAN1_HUMAN			8	979	-		Colorectal(73;0.0946)	316			Lumenal (Potential).		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.947G>T	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705597	0.48412	.	.	ENSG00000074695	ENST00000251047	D	0.99158	-5.5	5.71	5.71	0.89125	.	0.097108	0.64402	D	0.000001	D	0.96941	0.9001	L	0.36672	1.1	0.80722	D	1	P	0.38677	0.642	B	0.38106	0.265	D	0.96030	0.9016	10	0.33141	T	0.24	-12.8866	12.7708	0.57419	0.0:0.9245:0.0:0.0755	.	316	P49257	LMAN1_HUMAN	V	316	ENSP00000251047:G316V	ENSP00000251047:G316V	G	-	2	0	LMAN1	55164139	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	4.663000	0.61532	2.696000	0.92011	0.655000	0.94253	GGG		0.488	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		22	70	1	0	6.44725e-10	0.002299	1.02028e-09	22	70				
C3	718	broad.mit.edu	37	19	6710817	6710817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:6710817C>G	ENST00000245907.6	-	13	1611	c.1519G>C	c.(1519-1521)Gtg>Ctg	p.V507L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	507					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.V507L(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GGCTCTCGCACCTGGCGTCCC	0.652																																							uc002mfm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(1519-1521)GTG>CTG		complement component 3 precursor							48.0	48.0	48.0					19																	6710817		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6710817C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1519G>C	19.37:g.6710817C>G	ENSP00000245907:p.Val507Leu						p.V507L	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	13	1581	-			507					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1519G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	8.656	0.899460	0.17686	.	.	ENSG00000125730	ENST00000245907	T	0.62788	-0.0	5.31	-4.87	0.03123	Alpha-2-macroglobulin, N-terminal 2 (1);	1.599700	0.03349	N	0.195895	T	0.42359	0.1199	L	0.27053	0.805	0.09310	N	1	B	0.17852	0.024	B	0.25759	0.063	T	0.13019	-1.0525	10	0.28530	T	0.3	.	0.7308	0.00956	0.2033:0.3439:0.1955:0.2572	.	507	P01024	CO3_HUMAN	L	507	ENSP00000245907:V507L	ENSP00000245907:V507L	V	-	1	0	C3	6661817	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.866000	0.01647	-0.549000	0.06191	-0.734000	0.03567	GTG		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		15	46	0	0	0	0.007413	0	15	46				
ADAMTS10	81794	broad.mit.edu	37	19	8657674	8657674	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:8657674C>T	ENST00000597188.1	-	13	1830	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L	ADAMTS10_ENST00000270328.4_Silent_p.L520L|ADAMTS10_ENST00000595838.1_5'Flank	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	520	Disintegrin.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L520L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCGTCTGGCACAGCGTGCCCT	0.716																																							uc002mkj.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(2)	4						c.(1558-1560)CTG>CTA		ADAM metallopeptidase with thrombospondin type 1							35.0	31.0	33.0					19																	8657674		2202	4298	6500	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8657674C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1560G>A	19.37:g.8657674C>T						ADAMTS10_uc002mki.1_5'Flank|ADAMTS10_uc002mkk.1_Silent_p.L152L	p.L520L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			13	1834	-			520			Disintegrin.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.1560G>A	CCDS12206.1																																																																																				0.716	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		6	33	0	0	0	0.001984	0	6	33				
MUC16	94025	broad.mit.edu	37	19	9073651	9073651	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9073651G>T	ENST00000397910.4	-	3	13998	c.13795C>A	c.(13795-13797)Ctg>Atg	p.L4599M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4601	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L4599M(2)|p.L232M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGCAGTCAGGGAGGATGTT	0.502																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13795-13797)CTG>ATG		mucin 16							95.0	90.0	92.0					19																	9073651		2016	4179	6195	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073651G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13795C>A	19.37:g.9073651G>T	ENSP00000381008:p.Leu4599Met						p.L4599M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13999	-			4601			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13795C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.108	-0.404371	0.04832	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	1.63	-3.07	0.05363	.	.	.	.	.	T	0.05044	0.0135	L	0.53249	1.67	.	.	.	D	0.58268	0.982	P	0.47786	0.557	T	0.18745	-1.0327	8	0.87932	D	0	.	2.8853	0.05659	0.3565:0.2415:0.402:0.0	.	4599	B5ME49	.	M	4599	ENSP00000381008:L4599M	ENSP00000381008:L4599M	L	-	1	2	MUC16	8934651	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.316000	0.08071	-0.696000	0.05098	0.313000	0.20887	CTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	56	1	0	1.76689e-08	0.006214	2.69504e-08	9	56				
MUC16	94025	broad.mit.edu	37	19	9083145	9083145	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9083145C>T	ENST00000397910.4	-	1	8873	c.8670G>A	c.(8668-8670)ttG>ttA	p.L2890L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2891	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L2890L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCAAATGTCAAGGTAGACT	0.517																																							uc002mkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(8668-8670)TTG>TTA		mucin 16							68.0	63.0	65.0					19																	9083145		1899	4126	6025	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9083145C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8670G>A	19.37:g.9083145C>T							p.L2890L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	8874	-			2891			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.8670G>A	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	40	0	0	0	0.00308	0	7	40				
ZNF559	84527	broad.mit.edu	37	19	9452607	9452607	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9452607A>T	ENST00000393883.2	+	6	1128	c.480A>T	c.(478-480)ctA>ctT	p.L160L	ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_3'UTR|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF559_ENST00000587557.1_Silent_p.L224L|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Silent_p.L80L|ZNF559_ENST00000603380.1_Silent_p.L160L	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L160L(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCAACATCTACATCTTGTTT	0.373																																							uc002mlg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(478-480)CTA>CTT		zinc finger protein 559							112.0	113.0	112.0					19																	9452607		2203	4300	6503	SO:0001819	synonymous_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452607A>T	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.480A>T	19.37:g.9452607A>T						ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.L152L|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.L224L|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron	p.L160L	NM_032497	NP_115886	Q9BR84	ZN559_HUMAN			7	1127	+			160			C2H2-type 3; degenerate.		K7EMG6	Silent	SNP	ENST00000393883.2	37	c.480A>T	CCDS12211.1																																																																																				0.373	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		27	134	0	0	0	0.005443	0	27	134				
ZNF121	7675	broad.mit.edu	37	19	9677452	9677452	+	Nonsense_Mutation	SNP	C	C	A	rs539222558		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:9677452C>A	ENST00000586602.1	-	6	753	c.337G>T	c.(337-339)Gaa>Taa	p.E113*	ZNF121_ENST00000320451.6_Nonsense_Mutation_p.E113*			P58317	ZN121_HUMAN	zinc finger protein 121	113					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E113*(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGAGTGTTTCTCCATTGTGA	0.413																																							uc010xkp.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(337-339)GAA>TAA		zinc finger protein 121							112.0	90.0	98.0					19																	9677452		2203	4300	6503	SO:0001587	stop_gained	7675				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9677452C>A	M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.337G>T	19.37:g.9677452C>A	ENSP00000468643:p.Glu113*					ZNF121_uc010dwt.2_Nonsense_Mutation_p.E113*|ZNF121_uc010xkq.1_Nonsense_Mutation_p.E113*	p.E113*	NM_001008727	NP_001008727	P58317	ZN121_HUMAN			4	569	-			113						Nonsense_Mutation	SNP	ENST00000586602.1	37	c.337G>T		.	.	.	.	.	.	.	.	.	.	C	16.76	3.212185	0.58452	.	.	ENSG00000197961	ENST00000538300;ENST00000320451	.	.	.	1.47	0.365	0.16131	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.8827	0.18864	0.0:0.8051:0.0:0.1949	.	.	.	.	X	113	.	ENSP00000326967:E113X	E	-	1	0	ZNF121	9538452	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	1.003000	0.29809	0.181000	0.19994	0.484000	0.47621	GAA		0.413	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1	NM_001008727		12	56	1	0	4.3838e-07	0.001855	6.43839e-07	12	56				
ICAM1	3383	broad.mit.edu	37	19	10395694	10395694	+	Silent	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:10395694G>C	ENST00000264832.3	+	6	1741	c.1416G>C	c.(1414-1416)gtG>gtC	p.V472V	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Silent_p.V250V|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	472					adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.V472V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGGTGACCGTGAATGTGCTCT	0.627																																							uc002mnq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1414-1416)GTG>GTC		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						59.0	60.0	60.0					19																	10395694		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10395694G>C		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1416G>C	19.37:g.10395694G>C						ICAM1_uc010xle.1_Silent_p.V250V|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.V472V	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		6	1735	+			472			Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.1416G>C	CCDS12231.1																																																																																				0.627	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			4	42	0	0	0	0.000602	0	4	42				
SUGP2	10147	broad.mit.edu	37	19	19121141	19121141	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19121141C>G	ENST00000601879.1	-	5	2158	c.1861G>C	c.(1861-1863)Gat>Cat	p.D621H	SUGP2_ENST00000452918.2_Missense_Mutation_p.D621H|SUGP2_ENST00000600377.1_Missense_Mutation_p.D635H|SUGP2_ENST00000456085.2_Missense_Mutation_p.D390H|SUGP2_ENST00000337018.6_Missense_Mutation_p.D621H			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	621					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D621H(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTATTTTCATCAGACAAAAAC	0.438																																							uc002nkx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1861-1863)GAT>CAT		splicing factor, arginine/serine-rich 14							119.0	132.0	127.0					19																	19121141		2203	4300	6503	SO:0001583	missense	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19121141C>G	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1861G>C	19.37:g.19121141C>G	ENSP00000472286:p.Asp621His					SFRS14_uc002nkz.1_Missense_Mutation_p.D635H|SFRS14_uc002nla.1_Missense_Mutation_p.D621H|SFRS14_uc002nlb.2_Missense_Mutation_p.D621H|SFRS14_uc010xqk.1_Missense_Mutation_p.D390H	p.D621H	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)		5	2007	-			621			SURP motif 1.		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Missense_Mutation	SNP	ENST00000601879.1	37	c.1861G>C	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211314	0.79240	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.49	5.49	0.81192	SWAP/Surp (1);	0.092747	0.46758	D	0.000267	T	0.60470	0.2271	L	0.32530	0.975	0.53005	D	0.999961	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.992	T	0.63287	-0.6671	10	0.87932	D	0	-23.9961	18.3576	0.90362	0.0:1.0:0.0:0.0	.	390;621;621	E7ETX7;A8K5G0;Q8IX01	.;.;SUGP2_HUMAN	H	621;621;621;390	ENSP00000337926:D621H;ENSP00000332373:D621H;ENSP00000389380:D621H;ENSP00000409603:D390H	ENSP00000332373:D621H	D	-	1	0	SUGP2	18982141	0.998000	0.40836	0.986000	0.45419	0.973000	0.67179	5.057000	0.64294	2.590000	0.87494	0.655000	0.94253	GAT		0.438	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		23	207	0	0	0	0.00278	0	23	207				
SLC25A42	284439	broad.mit.edu	37	19	19216420	19216420	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19216420C>T	ENST00000318596.7	+	5	415	c.264C>T	c.(262-264)agC>agT	p.S88S	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	88					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)	p.S88S(1)		cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GATTTCTCAGCTTGTGGCGCG	0.622																																							uc002nlf.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(262-264)AGC>AGT		solute carrier family 25, member 42							87.0	64.0	71.0					19																	19216420		2203	4300	6503	SO:0001819	synonymous_variant	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19216420C>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.264C>T	19.37:g.19216420C>T						SLC25A42_uc010xqn.1_Silent_p.S140S	p.S88S	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		5	415	+			88			Solcar 1.		D2T2J5|O14553|O43378	Silent	SNP	ENST00000318596.7	37	c.264C>T	CCDS32966.1																																																																																				0.622	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		7	16	0	0	0	0.001984	0	7	16				
NCAN	1463	broad.mit.edu	37	19	19338336	19338336	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19338336T>A	ENST00000252575.6	+	8	2006	c.1907T>A	c.(1906-1908)cTg>cAg	p.L636Q	NCAN_ENST00000538881.1_Missense_Mutation_p.L87Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	636					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.L650Q(1)|p.L636Q(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	ATGGCCATGCTGCGTGGTCCC	0.637																																							uc002nlz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1906-1908)CTG>CAG		chondroitin sulfate proteoglycan 3 precursor							64.0	59.0	61.0					19																	19338336		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338336T>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1907T>A	19.37:g.19338336T>A	ENSP00000252575:p.Leu636Gln					NCAN_uc010ecc.1_Missense_Mutation_p.L200Q	p.L636Q	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2006	+			636					Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1907T>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754022	0.49362	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.91843	-2.53;-2.92	4.4	4.4	0.53042	.	0.000000	0.32593	N	0.005883	D	0.91633	0.7356	L	0.32530	0.975	0.36345	D	0.859751	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.991	D	0.89195	0.3553	10	0.12103	T	0.63	.	10.2232	0.43209	0.0:0.0:0.0:1.0	.	650;636	Q4LE67;O14594	.;NCAN_HUMAN	Q	650;636;87	ENSP00000252575:L636Q;ENSP00000442202:L87Q	ENSP00000252575:L636Q	L	+	2	0	NCAN	19199336	0.967000	0.33354	1.000000	0.80357	0.421000	0.31385	1.570000	0.36439	1.987000	0.57996	0.459000	0.35465	CTG		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		14	56	0	0	0	0.003163	0	14	56				
MAU2	23383	broad.mit.edu	37	19	19454666	19454666	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:19454666C>T	ENST00000392313.6	+	10	1173	c.994C>T	c.(994-996)Ctg>Ttg	p.L332L	MAU2_ENST00000262815.8_Silent_p.L332L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	332					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.L332L(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CAGCCCCATCCTGTCATCCTT	0.637																																							uc002nmk.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(994-996)CTG>TTG		hypothetical protein LOC23383 precursor							109.0	111.0	110.0					19																	19454666		2134	4250	6384	SO:0001819	synonymous_variant	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19454666C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.994C>T	19.37:g.19454666C>T						KIAA0892_uc002nml.3_5'Flank|KIAA0892_uc010ecd.2_5'Flank	p.L332L	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN			10	1033	+			332					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	c.994C>T	CCDS32969.2																																																																																				0.637	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		18	111	0	0	0	0.006122	0	18	111				
CTC-260E6.6	0	broad.mit.edu	37	19	20370104	20370104	+	RNA	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:20370104A>G	ENST00000593655.1	-	0	199																											AGCACATGGTATTCTTGGGTG	0.413																																							uc002nov.2		NA																	0					0						c.(895-897)GTA>GTG		SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2;																																						284441							g.chr19:20370104A>G																													19.37:g.20370104A>G							p.V299V	NR_003128						1	1648	+									Silent	SNP	ENST00000593655.1	37	c.897A>G																																																																																					0.413	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			10	40	0	0	0	0.000978	0	10	40				
ZNF737	100129842	broad.mit.edu	37	19	20727531	20727531	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:20727531G>A	ENST00000427401.4	-	4	1572	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S492F(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAGGATAAAGGAGCGCTTAAA	0.423																																							uc002npa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1477-1479)TCC>TTC		zinc finger protein 737							93.0	94.0	94.0					19																	20727531		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727531G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1478C>T	19.37:g.20727531G>A	ENSP00000395733:p.Ser493Phe						p.S493F	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1658	-			493					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1478C>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	3.378	-0.127070	0.06795	.	.	ENSG00000237440	ENST00000427401	T	0.61274	0.12	0.1	0.1	0.14510	.	.	.	.	.	T	0.50633	0.1627	M	0.67397	2.05	0.09310	N	1	B	0.26672	0.156	B	0.27262	0.078	T	0.44190	-0.9344	8	0.38643	T	0.18	.	.	.	.	.	493	C9JHM3	.	F	493	ENSP00000395733:S493F	ENSP00000395733:S493F	S	-	2	0	ZNF737	20519371	0.000000	0.05858	0.407000	0.26434	0.408000	0.30992	-1.938000	0.01546	0.170000	0.19704	0.173000	0.16961	TCC		0.423	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		6	34	0	0	0	0.001168	0	6	34				
ZNF676	163223	broad.mit.edu	37	19	22363099	22363099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:22363099C>A	ENST00000397121.2	-	3	1737	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E474*(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAGGTTTCTCTGCAGCATGA	0.393																																							uc002nqs.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1420-1422)GAG>TAG		zinc finger protein 676							112.0	117.0	115.0					19																	22363099		2143	4272	6415	SO:0001587	stop_gained	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363099C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1420G>T	19.37:g.22363099C>A	ENSP00000380310:p.Glu474*						p.E474*	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1738	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	474					A8MVX5	Nonsense_Mutation	SNP	ENST00000397121.2	37	c.1420G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	29.6	5.020294	0.93462	.	.	ENSG00000196109	ENST00000397121	.	.	.	0.81	0.81	0.18732	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	4.3364	0.11089	0.0:0.7352:0.0:0.2648	.	.	.	.	X	474	.	ENSP00000380310:E474X	E	-	1	0	ZNF676	22154939	0.626000	0.27120	0.020000	0.16555	0.020000	0.10135	2.068000	0.41471	0.181000	0.19994	0.184000	0.17185	GAG		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		28	107	1	0	1.08312e-15	0.001786	1.8332e-15	28	107				
ZNF492	57615	broad.mit.edu	37	19	22847414	22847415	+	Missense_Mutation	DNP	GG	GG	TT	rs74170725		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:22847414_22847415GG>TT	ENST00000456783.2	+	4	1187_1188	c.943_944GG>TT	c.(943-945)GGt>TTt	p.G315F	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G315F(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGAAGAATGTGGTAAGGCCTTT	0.381																																							uc002nqw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(943-945)GGT>TTT		zinc finger protein 492																																				SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22847414_22847415GG>TT	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		Exception_encountered	19.37:g.22847414_22847415delinsTT	ENSP00000413660:p.Gly315Phe						p.G315F	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			4	1187_1188	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	315			C2H2-type 7.		Q08EI7|Q08EI8	Missense_Mutation	DNP	ENST00000456783.2	37	c.943_944GG>TT	CCDS46032.1																																																																																				0.381	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		11	52	0	0	0	0.004672	0	11	52				
ZNF536	9745	broad.mit.edu	37	19	30936456	30936456	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:30936456G>T	ENST00000355537.3	+	2	2134	c.1987G>T	c.(1987-1989)Ggg>Tgg	p.G663W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	663					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G663W(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGAGGAGGATGGGCTGCACGT	0.697																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1987-1989)GGG>TGG		zinc finger protein 536							46.0	51.0	49.0					19																	30936456		2203	4299	6502	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936456G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1987G>T	19.37:g.30936456G>T	ENSP00000347730:p.Gly663Trp					ZNF536_uc010edd.1_Missense_Mutation_p.G663W	p.G663W	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	2125	+	Esophageal squamous(110;0.0834)		663					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1987G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	5.500	0.277176	0.10403	.	.	ENSG00000198597	ENST00000355537	T	0.09350	2.99	5.42	4.36	0.52297	.	0.444231	0.26203	N	0.025739	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.39971	0.315;0.315	T	0.22661	-1.0210	10	0.66056	D	0.02	-15.3505	7.6925	0.28575	0.1116:0.1642:0.7242:0.0	.	663;663	A7E228;O15090	.;ZN536_HUMAN	W	663	ENSP00000347730:G663W	ENSP00000347730:G663W	G	+	1	0	ZNF536	35628296	0.999000	0.42202	0.932000	0.37286	0.394000	0.30568	5.007000	0.63984	1.220000	0.43490	0.655000	0.94253	GGG		0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	51	1	0	0.00198382	0.001984	0.00247684	7	51				
ZNF536	9745	broad.mit.edu	37	19	31039052	31039052	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:31039052C>A	ENST00000355537.3	+	4	2673	c.2526C>A	c.(2524-2526)ttC>ttA	p.F842L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	842					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.F842L(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGGGCCTTCAAGGGTCTCC	0.587																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2524-2526)TTC>TTA		zinc finger protein 536							64.0	72.0	69.0					19																	31039052		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039052C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2526C>A	19.37:g.31039052C>A	ENSP00000347730:p.Phe842Leu					ZNF536_uc010edd.1_Missense_Mutation_p.F842L	p.F842L	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2664	+	Esophageal squamous(110;0.0834)		842					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2526C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	9.104	1.004905	0.19199	.	.	ENSG00000198597	ENST00000355537	T	0.09163	3.01	5.98	-11.9	0.00025	.	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.34521	1.04	0.34902	D	0.746629	B;B	0.24920	0.114;0.114	B;B	0.24974	0.057;0.057	T	0.28713	-1.0035	10	0.33141	T	0.24	-10.4669	12.1687	0.54146	0.0869:0.2733:0.0:0.6398	.	842;842	A7E228;O15090	.;ZN536_HUMAN	L	842	ENSP00000347730:F842L	ENSP00000347730:F842L	F	+	3	2	ZNF536	35730892	0.108000	0.22018	0.171000	0.22900	0.883000	0.51084	-0.465000	0.06680	-2.174000	0.00772	-0.469000	0.05056	TTC		0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		25	76	1	0	6.36457e-07	0.003954	9.28289e-07	25	76				
DPY19L3	147991	broad.mit.edu	37	19	32949374	32949374	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:32949374C>T	ENST00000342179.5	+	12	1496	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	DPY19L3_ENST00000586987.1_Silent_p.I427I|DPY19L3_ENST00000392250.2_Silent_p.I427I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	427						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.I427I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TTCTGTCCATCACAGTGATTG	0.373																																							uc002ntg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1279-1281)ATC>ATT		dpy-19-like 3							209.0	206.0	207.0					19																	32949374		2203	4300	6503	SO:0001819	synonymous_variant	147991					integral to membrane		g.chr19:32949374C>T		CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.1281C>T	19.37:g.32949374C>T						DPY19L3_uc002nth.1_Silent_p.I427I|DPY19L3_uc002nti.1_RNA	p.I427I	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN			12	1457	+	Esophageal squamous(110;0.162)		427			Helical; (Potential).		Q68DC7|Q6ZTB7|Q6ZTS2	Silent	SNP	ENST00000342179.5	37	c.1281C>T	CCDS12422.1																																																																																				0.373	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450311.1	NM_207325		12	203	0	0	0	0.001368	0	12	203				
ZNF585A	199704	broad.mit.edu	37	19	37643728	37643728	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:37643728T>A	ENST00000356958.4	-	5	1331	c.1073A>T	c.(1072-1074)gAg>gTg	p.E358V	ZNF585A_ENST00000355533.2_Missense_Mutation_p.E303V|ZNF585A_ENST00000392157.2_Missense_Mutation_p.E303V|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.E303V			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E303V(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTCCCACACTCAGTACATAT	0.408																																							uc002ofo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1072-1074)GAG>GTG		zinc finger protein 585A							103.0	101.0	102.0					19																	37643728		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37643728T>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1073A>T	19.37:g.37643728T>A	ENSP00000349440:p.Glu358Val					ZNF585A_uc002ofm.1_Missense_Mutation_p.E303V|ZNF585A_uc002ofn.1_Missense_Mutation_p.E303V	p.E358V	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1304	-			358			C2H2-type 8.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.1073A>T		.	.	.	.	.	.	.	.	.	.	T	8.224	0.803216	0.16397	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.04706	3.57;3.57;3.57;5.13	3.13	3.13	0.36017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38272	N	0.001747	T	0.08358	0.0208	L	0.41356	1.27	0.09310	N	1	P	0.48503	0.911	P	0.52217	0.693	T	0.07520	-1.0768	10	0.59425	D	0.04	.	9.6134	0.39676	0.0:0.0:0.0:1.0	.	358	Q6P3V2	Z585A_HUMAN	V	358;303;303;303	ENSP00000349440:E358V;ENSP00000292841:E303V;ENSP00000375998:E303V;ENSP00000347724:E303V	ENSP00000292841:E303V	E	-	2	0	ZNF585A	42335568	0.001000	0.12720	0.665000	0.29768	0.083000	0.17756	0.953000	0.29162	1.420000	0.47138	0.459000	0.35465	GAG		0.408	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		28	131	0	0	0	0.00632	0	28	131				
CYP2B6	1555	broad.mit.edu	37	19	41515256	41515256	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:41515256G>A	ENST00000324071.4	+	5	785	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	260					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A260T(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	GGACCCCAGCGCCCCCAAGGA	0.557																																							uc002opr.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(778-780)GCC>ACC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						64.0	72.0	69.0					19																	41515256		2193	4284	6477	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515256G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.778G>A	19.37:g.41515256G>A	ENSP00000324648:p.Ala260Thr					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.A260T	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		5	785	+			260					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.778G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	8.931	0.963397	0.18583	.	.	ENSG00000197408	ENST00000324071	T	0.01252	5.1	4.45	-8.9	0.00782	.	0.574755	0.17568	N	0.169571	T	0.00967	0.0032	L	0.29908	0.895	0.09310	N	1	B	0.22983	0.078	B	0.10450	0.005	T	0.32745	-0.9895	10	0.54805	T	0.06	.	6.9355	0.24464	0.5139:0.0:0.1598:0.3263	.	260	P20813	CP2B6_HUMAN	T	260	ENSP00000324648:A260T	ENSP00000324648:A260T	A	+	1	0	CYP2B6	46207096	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-4.367000	0.00245	-3.003000	0.00275	-1.721000	0.00707	GCC		0.557	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		20	58	0	0	0	0.008871	0	20	58				
ATP1A3	478	broad.mit.edu	37	19	42492226	42492226	+	Silent	SNP	C	C	T	rs567997976		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:42492226C>T	ENST00000302102.5	-	4	369	c.219G>A	c.(217-219)ccG>ccA	p.P73P	ATP1A3_ENST00000602133.1_Silent_p.P43P|ATP1A3_ENST00000545399.1_Silent_p.P86P|ATP1A3_ENST00000543770.1_Silent_p.P84P|ATP1A3_ENST00000468774.2_5'UTR	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	73	Interaction with phosphoinositide-3 kinase. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.P73P(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGGTGGTAGGCGGTGGCGTGA	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16479	0.0		0.0	False		,,,				2504	0.001						uc002osg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(217-219)CCG>CCA		Na+/K+ -ATPase alpha 3 subunit							107.0	113.0	111.0					19																	42492226		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492226C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.219G>A	19.37:g.42492226C>T						ATP1A3_uc010xwf.1_Silent_p.P84P|ATP1A3_uc010xwg.1_Silent_p.P43P|ATP1A3_uc010xwh.1_Silent_p.P86P|ATP1A3_uc002osh.2_Silent_p.P73P	p.P73P	NM_152296	NP_689509	P13637	AT1A3_HUMAN			4	373	-			73			Interaction with phosphoinositide-3 kinase (By similarity).|Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.219G>A	CCDS12594.1																																																																																				0.622	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		10	86	0	0	0	0.006214	0	10	86				
TMEM145	284339	broad.mit.edu	37	19	42819386	42819386	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:42819386C>G	ENST00000301204.3	+	7	593	c.552C>G	c.(550-552)atC>atG	p.I184M	TMEM145_ENST00000598766.1_Missense_Mutation_p.I208M	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	184					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.I184M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				tcatcctcatcttcttcctct	0.537																																							uc002otk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(550-552)ATC>ATG		transmembrane protein 145							212.0	177.0	189.0					19																	42819386		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819386C>G	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.552C>G	19.37:g.42819386C>G	ENSP00000301204:p.Ile184Met						p.I184M	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			7	604	+		Prostate(69;0.00682)	184			Helical; (Potential).			Missense_Mutation	SNP	ENST00000301204.3	37	c.552C>G	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.468242	0.26335	.	.	ENSG00000167619	ENST00000301204	T	0.40476	1.03	4.03	2.99	0.34606	Rhodopsin-like GPCR transmembrane domain (1);	0.171775	0.39146	N	0.001443	T	0.22205	0.0535	N	0.15975	0.35	0.40502	D	0.980652	B	0.21688	0.059	B	0.17722	0.019	T	0.05649	-1.0872	10	0.22706	T	0.39	-10.0157	7.9658	0.30098	0.0:0.8807:0.0:0.1193	.	184	Q8NBT3	TM145_HUMAN	M	184	ENSP00000301204:I184M	ENSP00000301204:I184M	I	+	3	3	TMEM145	47511226	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.778000	0.38614	0.808000	0.34231	0.455000	0.32223	ATC		0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		4	63	0	0	0	0.000248	0	4	63				
TMEM145	284339	broad.mit.edu	37	19	42819403	42819403	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:42819403A>T	ENST00000301204.3	+	7	610	c.569A>T	c.(568-570)tAc>tTc	p.Y190F	TMEM145_ENST00000598766.1_Missense_Mutation_p.Y214F	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	190					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)		p.Y190F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ctctcttGTTACTTTGGATGT	0.537																																							uc002otk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(568-570)TAC>TTC		transmembrane protein 145							183.0	159.0	167.0					19																	42819403		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819403A>T	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.569A>T	19.37:g.42819403A>T	ENSP00000301204:p.Tyr190Phe						p.Y190F	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			7	621	+		Prostate(69;0.00682)	190			Helical; (Potential).			Missense_Mutation	SNP	ENST00000301204.3	37	c.569A>T	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.705338	0.48412	.	.	ENSG00000167619	ENST00000301204	T	0.42131	0.98	4.2	4.2	0.49525	Rhodopsin-like GPCR transmembrane domain (1);	0.168624	0.39985	N	0.001204	T	0.34221	0.0890	L	0.53249	1.67	0.47476	D	0.999434	B	0.34181	0.44	B	0.32342	0.144	T	0.10268	-1.0637	10	0.21540	T	0.41	-4.2249	9.9465	0.41611	1.0:0.0:0.0:0.0	.	190	Q8NBT3	TM145_HUMAN	F	190	ENSP00000301204:Y190F	ENSP00000301204:Y190F	Y	+	2	0	TMEM145	47511243	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.918000	0.63376	1.658000	0.50742	0.374000	0.22700	TAC		0.537	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		8	78	0	0	0	0.00308	0	8	78				
ZNF221	7638	broad.mit.edu	37	19	44470668	44470668	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:44470668C>T	ENST00000251269.5	+	6	1342	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	ZNF221_ENST00000587682.1_Silent_p.F338F|ZNF221_ENST00000592350.1_Silent_p.F338F	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F338F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAAAAGCATTCAGATGTGATA	0.413																																							uc002oxx.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1012-1014)TTC>TTT		zinc finger protein 221							159.0	155.0	157.0					19																	44470668		2203	4300	6503	SO:0001819	synonymous_variant	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470668C>T	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1014C>T	19.37:g.44470668C>T						ZNF221_uc010ejb.1_Silent_p.F338F|ZNF221_uc010xws.1_Silent_p.F338F	p.F338F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1342	+		Prostate(69;0.0352)	338			C2H2-type 7.		B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	c.1014C>T	CCDS12633.1																																																																																				0.413	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			12	160	0	0	0	0.001368	0	12	160				
ZNF233	353355	broad.mit.edu	37	19	44778728	44778728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:44778728C>A	ENST00000391958.2	+	5	2042	c.1915C>A	c.(1915-1917)Cag>Aag	p.Q639K	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.Q621K|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q639K(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCAAGCCCATCAGAGAGTCCA	0.428																																							uc002oyz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1915-1917)CAG>AAG		zinc finger protein 233							97.0	99.0	98.0					19																	44778728		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44778728C>A	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1915C>A	19.37:g.44778728C>A	ENSP00000375820:p.Gln639Lys					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.Q454K	p.Q639K	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	2042	+		Prostate(69;0.0435)|all_neural(266;0.226)	639			C2H2-type 12.		B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.1915C>A	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688418	0.48097	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.07216	3.21;3.21	4.08	0.243	0.15503	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	N	0.05619	-0.0049999999999999	0.09310	N	0.999999	B	0.26318	0.146	B	0.21708	0.036	T	0.40440	-0.9563	9	0.59425	D	0.04	-0.0432	5.0687	0.14594	0.162:0.6354:0.0:0.2026	.	639	A6NK53	ZN233_HUMAN	K	621;639;534	ENSP00000334957:Q621K;ENSP00000375820:Q639K	ENSP00000280305:Q534K	Q	+	1	0	ZNF233	49470568	0.000000	0.05858	0.096000	0.21009	0.978000	0.69477	-0.026000	0.12392	0.270000	0.21984	0.609000	0.83330	CAG		0.428	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756		21	58	1	0	4.35082e-09	0.001523	6.76675e-09	21	58				
LIG1	3978	broad.mit.edu	37	19	48665538	48665538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:48665538C>A	ENST00000263274.7	-	3	507	c.88G>T	c.(88-90)Gag>Tag	p.E30*	LIG1_ENST00000427526.2_Intron|LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Nonsense_Mutation_p.E30*	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	30					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.E30*(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GGCTCCGTCTCTCTGCTGCTA	0.458								Nucleotide excision repair (NER)																															uc002pia.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(88-90)GAG>TAG	NER	DNA ligase I	Bleomycin(DB00290)						205.0	197.0	200.0					19																	48665538		2203	4300	6503	SO:0001587	stop_gained	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48665538C>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.88G>T	19.37:g.48665538C>A	ENSP00000263274:p.Glu30*					LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Nonsense_Mutation_p.E30*|LIG1_uc010xzg.1_Intron|LIG1_uc010xzh.1_RNA	p.E30*	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	3	208	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	30					B2RAI8|Q2TB12|Q32P23	Nonsense_Mutation	SNP	ENST00000263274.7	37	c.88G>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	38	6.973286	0.97975	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000536218;ENST00000542460	.	.	.	4.23	4.23	0.50019	.	0.477658	0.20817	N	0.085139	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-29.2422	12.842	0.57809	0.0:1.0:0.0:0.0	.	.	.	.	X	30;62;30;30	.	ENSP00000263274:E30X	E	-	1	0	LIG1	53357350	0.911000	0.30947	0.788000	0.31933	0.905000	0.53344	3.148000	0.50647	2.281000	0.76405	0.655000	0.94253	GAG		0.458	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		16	209	1	0	3.41278e-10	0.00499	5.41426e-10	16	209				
ZNF610	162963	broad.mit.edu	37	19	52868949	52868949	+	Splice_Site	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:52868949A>T	ENST00000403906.3	+	6	775		c.e6-1		ZNF610_ENST00000601151.1_Splice_Site|ZNF610_ENST00000321287.8_Splice_Site|ZNF610_ENST00000327920.8_Splice_Site	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		CTTCTTTTCTAGGGAGGAGCT	0.448																																							uc002pyx.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.e6-2		zinc finger protein 610 isoform a							104.0	115.0	111.0					19																	52868949		2201	4300	6501	SO:0001630	splice_region_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52868949A>T	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.320-1A>T	19.37:g.52868949A>T						ZNF610_uc002pyy.3_Splice_Site_p.G107_splice|ZNF610_uc002pyz.3_Splice_Site_p.G64_splice|ZNF610_uc002pza.2_Splice_Site_p.G107_splice	p.G107_splice	NM_001161426	NP_001154898	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	6	726	+								A8K4C3|Q86YH8|Q8NDS9	Splice_Site	SNP	ENST00000403906.3	37	c.320_splice	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	a	6.197	0.404439	0.11754	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	.	.	.	1.15	-0.0102	0.13998	.	.	.	.	.	.	.	.	.	.	.	0.34356	D	0.690442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.6032	0.04871	0.6093:0.0:0.3907:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF610	57560761	0.091000	0.21658	0.112000	0.21494	0.128000	0.20619	0.400000	0.20932	0.389000	0.25086	0.379000	0.24179	.		0.448	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530	Intron	20	118	0	0	0	0.001882	0	20	118				
ZNF528	84436	broad.mit.edu	37	19	52918883	52918883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:52918883C>T	ENST00000360465.3	+	7	1204	c.778C>T	c.(778-780)Caa>Taa	p.Q260*	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q260*(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTCACAACATCAAAGAATTCA	0.388																																							uc002pzh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(778-780)CAA>TAA		zinc finger protein 528							78.0	82.0	81.0					19																	52918883		2203	4299	6502	SO:0001587	stop_gained	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52918883C>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.778C>T	19.37:g.52918883C>T	ENSP00000353652:p.Gln260*					ZNF528_uc002pzi.2_Nonsense_Mutation_p.Q27*	p.Q260*	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1204	+			260			C2H2-type 2.		B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	ENST00000360465.3	37	c.778C>T	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287190	0.80803	.	.	ENSG00000167555	ENST00000360465	.	.	.	1.69	-1.44	0.08856	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	3.8178	0.08822	0.5546:0.2946:0.0:0.1508	.	.	.	.	X	260	.	ENSP00000353652:Q260X	Q	+	1	0	ZNF528	57610695	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.517000	0.06275	-0.469000	0.06911	0.313000	0.20887	CAA		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		8	99	0	0	0	0.00308	0	8	99				
VN1R2	317701	broad.mit.edu	37	19	53762367	53762367	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:53762367G>A	ENST00000341702.3	+	1	823	c.739G>A	c.(739-741)Gga>Aga	p.G247R		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	247					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.G247R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGGAGATTTGGGATATTGTTC	0.438																																							uc002qbi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GGA>AGA		vomeronasal 1 receptor 2							113.0	105.0	108.0					19																	53762367		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762367G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.739G>A	19.37:g.53762367G>A	ENSP00000351244:p.Gly247Arg						p.G247R	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	823	+			247			Extracellular (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.739G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924940	0.34002	.	.	ENSG00000196131	ENST00000341702	T	0.08458	3.09	2.94	-0.993	0.10228	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18882	0.0453	M	0.78223	2.4	0.09310	N	1	D	0.56287	0.975	P	0.60541	0.876	T	0.12268	-1.0554	9	0.59425	D	0.04	.	2.2731	0.04095	0.1155:0.37:0.3259:0.1887	.	247	Q8NFZ6	VN1R2_HUMAN	R	247	ENSP00000351244:G247R	ENSP00000351244:G247R	G	+	1	0	VN1R2	58454179	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.020000	0.12525	-0.048000	0.13401	0.596000	0.82720	GGA		0.438	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		15	113	0	0	0	0.004007	0	15	113				
LILRA2	11027	broad.mit.edu	37	19	55086935	55086935	+	Missense_Mutation	SNP	G	G	T	rs368237647		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:55086935G>T	ENST00000251377.3	+	6	1001	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	LILRA2_ENST00000391738.3_Missense_Mutation_p.G290W|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.G278W|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G290W			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	290	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G290W(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCTCCCACGGGGGCCAGTA	0.657																																							uc002qgg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)GGG>TGG		leukocyte immunoglobulin-like receptor,							49.0	50.0	50.0					19																	55086935		2203	4299	6502	SO:0001583	missense	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086935G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.868G>T	19.37:g.55086935G>T	ENSP00000251377:p.Gly290Trp					LILRA2_uc010ern.2_Missense_Mutation_p.G290W|LILRA2_uc002qgf.2_Missense_Mutation_p.G290W|LILRA2_uc010yfe.1_Missense_Mutation_p.G290W|LILRA2_uc010yff.1_Missense_Mutation_p.G278W|LILRA2_uc010ero.2_Missense_Mutation_p.G278W|LILRA2_uc010yfg.1_Intron	p.G290W	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	5	957	+			290			Ig-like C2-type 3.|Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.868G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127977	0.37533	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	2.8	-0.934	0.10428	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.218720	0.06017	N	0.650667	T	0.49626	0.1568	H	0.97940	4.11	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.27157	-1.0082	10	0.87932	D	0	.	5.3337	0.15945	0.4728:0.0:0.5272:0.0	.	290;278;290;290	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	W	290;290;290;290;278	ENSP00000388131:G290W;ENSP00000251377:G290W;ENSP00000375618:G290W;ENSP00000251376:G290W;ENSP00000375617:G278W	ENSP00000251376:G290W	G	+	1	0	LILRA2	59778747	0.000000	0.05858	0.001000	0.08648	0.179000	0.23085	-1.676000	0.01946	-0.239000	0.09710	0.400000	0.26472	GGG		0.657	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			10	59	1	0	1.76689e-08	0.006214	2.69504e-08	10	59				
NLRP7	199713	broad.mit.edu	37	19	55447692	55447692	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:55447692C>T	ENST00000590030.1	-	5	2277	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	NLRP7_ENST00000448121.2_Missense_Mutation_p.R718H|NLRP7_ENST00000446217.1_Missense_Mutation_p.R774H|NLRP7_ENST00000588756.1_Missense_Mutation_p.R746H|NLRP7_ENST00000592784.1_Missense_Mutation_p.R746H|NLRP7_ENST00000340844.2_Missense_Mutation_p.R746H|NLRP7_ENST00000328092.5_Missense_Mutation_p.R718H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	746							ATP binding (GO:0005524)	p.R746H(1)|p.R718H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCATCGTGCGTTCCCACTC	0.572																																							uc002qih.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2236-2238)CGC>CAC		NACHT, leucine rich repeat and PYD containing 7							127.0	95.0	106.0					19																	55447692		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55447692C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2237G>A	19.37:g.55447692C>T	ENSP00000465520:p.Arg746His					NLRP7_uc002qig.3_Missense_Mutation_p.R718H|NLRP7_uc002qii.3_Missense_Mutation_p.R746H|NLRP7_uc010esk.2_Missense_Mutation_p.R746H|NLRP7_uc010esl.2_Missense_Mutation_p.R774H	p.R746H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	6	2313	-			746					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2237G>A	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710327	0.30322	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.53206	0.63;0.63;0.63	1.95	0.909	0.19332	.	.	.	.	.	T	0.43986	0.1272	L	0.33485	1.01	0.09310	N	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.997	P;P;P;P	0.57468	0.813;0.743;0.743;0.821	T	0.22487	-1.0215	9	0.34782	T	0.22	.	3.3391	0.07111	0.0:0.24:0.0:0.76	.	774;746;746;718	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	H	746;718;746;774;513	ENSP00000409137:R718H;ENSP00000339491:R746H;ENSP00000414273:R774H	ENSP00000329568:R746H	R	-	2	0	NLRP7	60139504	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.980000	0.03770	0.240000	0.21263	-0.367000	0.07326	CGC		0.572	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	78	0	0	0	0.001984	0	6	78				
ZNF606	80095	broad.mit.edu	37	19	58490898	58490898	+	Missense_Mutation	SNP	C	C	T	rs142065196	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:58490898C>T	ENST00000341164.4	-	7	1770	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	ZNF606_ENST00000536132.1_Missense_Mutation_p.D294N	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D384N(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AGGAAAGAGTCATACCCAAAG	0.363													C|||	6	0.00119808	0.0045	0.0	5008	,	,		4142	0.0		0.0	False		,,,				2504	0.0						uc002qqw.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1150-1152)GAC>AAC		zinc finger protein 606		C	ASN/ASP	24,4382	31.7+/-61.6	0,24,2179	117.0	101.0	107.0		1150	3.5	1.0	19	dbSNP_134	107	0,8600		0,0,4300	yes	missense	ZNF606	NM_025027.3	23	0,24,6479	TT,TC,CC		0.0,0.5447,0.1845	probably-damaging	384/793	58490898	24,12982	2203	4300	6503	SO:0001583	missense	80095				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58490898C>T	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.1150G>A	19.37:g.58490898C>T	ENSP00000343617:p.Asp384Asn					ZNF606_uc010yhp.1_Missense_Mutation_p.D294N	p.D384N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)	7	1768	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	384					A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	ENST00000341164.4	37	c.1150G>A	CCDS12968.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	9.473	1.096202	0.20552	0.005447	0.0	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.14391	2.51;2.51;2.51	4.55	3.52	0.40303	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000292	T	0.01523	0.0049	N	0.00315	-1.66	0.09310	N	1	P	0.48230	0.907	B	0.37780	0.258	T	0.32508	-0.9904	10	0.15499	T	0.54	.	4.4521	0.11626	0.0:0.6234:0.2154:0.1611	.	384	Q8WXB4	ZN606_HUMAN	N	384;294;384	ENSP00000343617:D384N;ENSP00000445624:D294N;ENSP00000446972:D384N	ENSP00000343617:D384N	D	-	1	0	ZNF606	63182710	0.000000	0.05858	1.000000	0.80357	0.886000	0.51366	0.577000	0.23758	2.515000	0.84797	0.655000	0.94253	GAC		0.363	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405961.1	NM_025027		19	96	0	0	0	0.007413	0	19	96				
ZNF274	10782	broad.mit.edu	37	19	58723923	58723923	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr19:58723923G>A	ENST00000326804.4	+	9	1832	c.1373G>A	c.(1372-1374)aGt>aAt	p.S458N	ZNF274_ENST00000345813.3_Missense_Mutation_p.S426N|ZNF274_ENST00000424679.2_Missense_Mutation_p.S353N|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S426N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CAAGTTAAAAGTATGAAACAT	0.428																																							uc002qrq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1375-1377)AGT>AAT		zinc finger protein 274 isoform c							95.0	93.0	93.0					19																	58723923		1932	4153	6085	SO:0001583	missense	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58723923G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.1373G>A	19.37:g.58723923G>A	ENSP00000321209:p.Ser458Asn					ZNF274_uc002qrr.1_Missense_Mutation_p.S427N|ZNF274_uc002qrs.1_Missense_Mutation_p.S354N|ZNF274_uc010eum.1_Missense_Mutation_p.S218N	p.S459N	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	10	1835	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)	459					Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Missense_Mutation	SNP	ENST00000326804.4	37	c.1376G>A		.	.	.	.	.	.	.	.	.	.	G	13.11	2.139621	0.37728	.	.	ENSG00000171606	ENST00000326804;ENST00000345813;ENST00000424679	T;T;T	0.07021	3.33;3.23;3.26	4.33	-2.4	0.06583	.	1.049840	0.07575	N	0.919151	T	0.04227	0.0117	.	.	.	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.47222	-0.9134	9	0.17832	T	0.49	0.1492	5.9175	0.19063	0.2435:0.0:0.5857:0.1708	.	354;427;459	Q96GC6-3;Q96GC6-2;Q96GC6	.;.;ZN274_HUMAN	N	458;426;353	ENSP00000321209:S458N;ENSP00000321187:S426N;ENSP00000409872:S353N	ENSP00000321209:S458N	S	+	2	0	ZNF274	63415735	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-0.206000	0.09398	-0.582000	0.05929	-0.367000	0.07326	AGT		0.428	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_133502		11	135	0	0	0	0.008291	0	11	135				
PXDN	7837	broad.mit.edu	37	2	1652789	1652789	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:1652789A>T	ENST00000252804.4	-	17	2813	c.2763T>A	c.(2761-2763)caT>caA	p.H921Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	921					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.H921Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGCGGGCCTCATGCTCCGTGC	0.672																																							uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2761-2763)CAT>CAA		peroxidasin precursor							23.0	24.0	24.0					2																	1652789		1977	4040	6017	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652789A>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2763T>A	2.37:g.1652789A>T	ENSP00000252804:p.His921Gln						p.H921Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2827	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	921					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2763T>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	7.147	0.583018	0.13749	.	.	ENSG00000130508	ENST00000252804	T	0.67345	-0.26	5.36	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.43344	0.1243	N	0.12746	0.255	0.46631	D	0.999137	B	0.19073	0.033	B	0.22152	0.038	T	0.10382	-1.0632	10	0.14252	T	0.57	-59.2375	9.2467	0.37529	0.4178:0.0:0.5822:0.0	.	921	Q92626	PXDN_HUMAN	Q	921	ENSP00000252804:H921Q	ENSP00000252804:H921Q	H	-	3	2	PXDN	1631796	0.001000	0.12720	0.985000	0.45067	0.934000	0.57294	-1.358000	0.02604	0.352000	0.24053	-0.242000	0.12053	CAT		0.672	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		9	38	0	0	0	0.000978	0	9	38				
PXDN	7837	broad.mit.edu	37	2	1653262	1653262	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:1653262C>A	ENST00000252804.4	-	17	2340	c.2290G>T	c.(2290-2292)Gag>Tag	p.E764*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	764					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.E764*(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGCAGGCGCTCGAAGGCGGTC	0.632																																							uc002qxa.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2290-2292)GAG>TAG		peroxidasin precursor							100.0	114.0	109.0					2																	1653262		2039	4186	6225	SO:0001587	stop_gained	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653262C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2290G>T	2.37:g.1653262C>A	ENSP00000252804:p.Glu764*						p.E764*	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2354	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	764					A8QM65|D6W4Y0|Q4KMG2	Nonsense_Mutation	SNP	ENST00000252804.4	37	c.2290G>T	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	39	7.863777	0.98531	.	.	ENSG00000130508	ENST00000252804	.	.	.	5.63	5.63	0.86233	.	0.055764	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-51.2469	19.7328	0.96190	0.0:1.0:0.0:0.0	.	.	.	.	X	764	.	ENSP00000252804:E764X	E	-	1	0	PXDN	1632269	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.978000	0.70501	2.661000	0.90470	0.558000	0.71614	GAG		0.632	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		27	130	1	0	5.77227e-19	0.008361	1.02636e-18	27	130				
POMC	5443	broad.mit.edu	37	2	25384028	25384028	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:25384028G>T	ENST00000405623.1	-	3	1181	c.726C>A	c.(724-726)acC>acA	p.T242T	RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Silent_p.T242T|POMC_ENST00000380794.1_Silent_p.T242T|POMC_ENST00000395826.2_Silent_p.T242T			P01189	COLI_HUMAN	proopiomelanocortin	242					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)	p.T242T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TCTTCTCGGAGGTCATGAAAC	0.642																																					Colon(110;1515 1566 8452 10082 43216)	Colon(110;1515 1566 8452 10082 43216)	uc002rfy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(724-726)ACC>ACA		proopiomelanocortin preproprotein	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						36.0	39.0	38.0					2																	25384028		2203	4300	6503	SO:0001819	synonymous_variant	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384028G>T		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.726C>A	2.37:g.25384028G>T						POMC_uc002rfz.1_Silent_p.T242T|POMC_uc002rga.1_Silent_p.T242T	p.T242T	NM_001035256	NP_001030333	P01189	COLI_HUMAN			4	989	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		242					P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	ENST00000405623.1	37	c.726C>A	CCDS1717.1																																																																																				0.642	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		9	45	1	0	1.58986e-06	0.008291	2.26663e-06	9	45				
ALK	238	broad.mit.edu	37	2	29551314	29551314	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:29551314C>A	ENST00000389048.3	-	6	2222	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	439	LDL-receptor class A.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S439I(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGTGAAGGAGCTCTGCAGGGC	0.587			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(1315-1317)AGC>ATC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						80.0	71.0	74.0					2																	29551314		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29551314C>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1316G>T	2.37:g.29551314C>A	ENSP00000373700:p.Ser439Ile						p.S439I	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			6	2223	-	Acute lymphoblastic leukemia(172;0.155)		439			LDL-receptor class A.|Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.1316G>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.295752	0.81025	.	.	ENSG00000171094	ENST00000389048	D	0.95588	-3.75	5.2	5.2	0.72013	.	0.108514	0.40554	U	0.001061	D	0.91922	0.7442	L	0.27053	0.805	0.80722	D	1	D	0.57571	0.98	P	0.45506	0.483	D	0.91044	0.4873	9	.	.	.	.	14.2651	0.66113	0.0:1.0:0.0:0.0	.	439	Q9UM73	ALK_HUMAN	I	439	ENSP00000373700:S439I	.	S	-	2	0	ALK	29404818	0.997000	0.39634	0.991000	0.47740	0.994000	0.84299	4.679000	0.61649	2.445000	0.82738	0.394000	0.25966	AGC		0.587	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	61	1	0	1.06961e-07	0.00308	1.61206e-07	6	61				
SPRED2	200734	broad.mit.edu	37	2	65561881	65561881	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:65561881C>A	ENST00000356388.4	-	3	420	c.231G>T	c.(229-231)aaG>aaT	p.K77N	SPRED2_ENST00000474228.1_5'UTR|SPRED2_ENST00000443619.2_Missense_Mutation_p.K74N	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	77	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.K77N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						AGACCAAGTCCTTTCTTACAT	0.448																																							uc002sdr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(229-231)AAG>AAT		sprouty-related protein with EVH-1 domain 2							184.0	171.0	175.0					2																	65561881		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65561881C>A	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.231G>T	2.37:g.65561881C>A	ENSP00000348753:p.Lys77Asn					SPRED2_uc010fcw.2_Missense_Mutation_p.K74N|SPRED2_uc010fcx.1_Intron	p.K77N	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN			3	766	-			77			WH1.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.231G>T	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701010	0.68501	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087;ENST00000440972	D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06	5.28	3.12	0.35913	EVH1 (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	D	0.99470	1.0945	10	0.87932	D	0	-19.4159	11.4662	0.50241	0.0:0.7783:0.0:0.2217	.	74;77	E9PEP0;Q7Z698	.;SPRE2_HUMAN	N	77;74;92;9;77	ENSP00000348753:K77N;ENSP00000393697:K74N;ENSP00000390595:K92N;ENSP00000407627:K9N;ENSP00000406481:K77N	ENSP00000348753:K77N	K	-	3	2	SPRED2	65415385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.263000	0.33004	1.231000	0.43661	0.655000	0.94253	AAG		0.448	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			27	145	1	0	1.88708e-17	0.008361	3.29979e-17	27	145				
ALMS1	7840	broad.mit.edu	37	2	73680958	73680958	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:73680958C>G	ENST00000264448.6	+	8	7412	c.7301C>G	c.(7300-7302)tCt>tGt	p.S2434C	ALMS1_ENST00000377715.1_Missense_Mutation_p.S2434C|ALMS1_ENST00000409009.1_Missense_Mutation_p.S2392C|ALMS1-IT1_ENST00000441587.2_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2434					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)		p.S2434C(1)		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						TTACCAGAGTCTTTGGAATCA	0.393																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7306-7308)TCT>TGT		Alstrom syndrome 1							161.0	156.0	158.0					2																	73680958		1891	4137	6028	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680958C>G	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.7301C>G	2.37:g.73680958C>G	ENSP00000264448:p.Ser2434Cys					ALMS1_uc002sjf.1_Missense_Mutation_p.S2392C|ALMS1_uc002sjg.2_Missense_Mutation_p.S1822C|ALMS1_uc002sjh.1_Missense_Mutation_p.S1822C	p.S2436C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	7418	+			2434					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7307C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261964	0.59431	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.24151	2.82;2.82;1.87	5.6	4.71	0.59529	.	0.000000	0.49916	D	0.000130	T	0.43743	0.1261	L	0.54323	1.7	0.35534	D	0.802521	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.52830	-0.8523	10	0.87932	D	0	.	10.9665	0.47416	0.0:0.9097:0.0:0.0903	.	2434;2392;2434	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	C	2392;2434;2434	ENSP00000386627:S2392C;ENSP00000264448:S2434C;ENSP00000366944:S2434C	ENSP00000264448:S2434C	S	+	2	0	ALMS1	73534466	0.919000	0.31177	1.000000	0.80357	0.998000	0.95712	2.057000	0.41365	2.806000	0.96561	0.655000	0.94253	TCT		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		9	75	0	0	0	0.006214	0	9	75				
DUSP11	8446	broad.mit.edu	37	2	74000985	74000985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:74000985C>A	ENST00000272444.3	-	4	557	c.516G>T	c.(514-516)gaG>gaT	p.E172D	DUSP11_ENST00000443070.1_Missense_Mutation_p.E172D|DUSP11_ENST00000377706.4_Missense_Mutation_p.E125D|DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	125	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)|polynucleotide 5' dephosphorylation (GO:0098507)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|phosphatase activity (GO:0016791)|poly(A) RNA binding (GO:0044822)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA binding (GO:0003723)	p.E125D(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TAAAAATAGTCTCATCATCAG	0.308																																							uc002sjp.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(514-516)GAG>GAT		dual specificity phosphatase 11							98.0	107.0	104.0					2																	74000985		2203	4299	6502	SO:0001583	missense	8446				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding	g.chr2:74000985C>A	AF023917	CCDS1928.2	2p13.1	2011-06-09			ENSG00000144048	ENSG00000144048		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3066	protein-coding gene	gene with protein product		603092				9685386	Standard	NM_003584		Approved	PIR1	uc002sjp.3	O75319	OTTHUMG00000129816	ENST00000272444.3:c.516G>T	2.37:g.74000985C>A	ENSP00000272444:p.Glu172Asp					DUSP11_uc002sjq.3_Missense_Mutation_p.E172D	p.E172D	NM_003584	NP_003575	O75319	DUS11_HUMAN			4	558	-			125					B2RCT8|Q6AI47|Q9BWE3	Missense_Mutation	SNP	ENST00000272444.3	37	c.516G>T	CCDS1928.2	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059747	0.19987	.	.	ENSG00000144048	ENST00000272444;ENST00000443070;ENST00000377706;ENST00000452812	D;D;D	0.85484	-1.99;-1.99;-1.99	4.95	1.85	0.25348	Dual specificity phosphatase, catalytic domain (1);	0.679638	0.14418	N	0.320843	T	0.68869	0.3048	N	0.20401	0.57	0.32517	N	0.536784	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.002	T	0.58896	-0.7555	10	0.05833	T	0.94	-0.0053	7.9804	0.30181	0.0:0.1491:0.3399:0.511	.	172;125	C9JYA6;O75319	.;DUS11_HUMAN	D	172;172;125;123	ENSP00000272444:E172D;ENSP00000413444:E172D;ENSP00000366935:E125D	ENSP00000272444:E172D	E	-	3	2	DUSP11	73854493	0.002000	0.14202	0.993000	0.49108	0.695000	0.40330	-0.457000	0.06745	0.237000	0.21200	-0.165000	0.13383	GAG		0.308	DUSP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252047.3			22	154	1	0	6.33239e-15	0.001523	1.06891e-14	22	154				
REG1A	5967	broad.mit.edu	37	2	79349171	79349171	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:79349171G>T	ENST00000233735.1	+	4	344	c.241G>T	c.(241-243)Ggt>Tgt	p.G81C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	81	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.G81C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCAGGCCGAGGGTGCCTTTGT	0.517																																							uc002snz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(241-243)GGT>TGT		regenerating islet-derived 1 alpha precursor							145.0	131.0	135.0					2																	79349171		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79349171G>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.241G>T	2.37:g.79349171G>T	ENSP00000233735:p.Gly81Cys					REG1A_uc010ffx.1_3'UTR|REG1A_uc010ysd.1_Missense_Mutation_p.G81C	p.G81C	NM_002909	NP_002900	P05451	REG1A_HUMAN			4	344	+			81			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.241G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	12.88	2.069289	0.36470	.	.	ENSG00000115386	ENST00000233735	T	0.07908	3.15	3.51	2.58	0.30949	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.216747	0.22655	N	0.057263	T	0.20820	0.0501	M	0.66297	2.02	0.24514	N	0.994196	D	0.76494	0.999	D	0.66497	0.944	T	0.01839	-1.1263	10	0.62326	D	0.03	.	7.9852	0.30207	0.0:0.0:0.7561:0.2439	.	81	P05451	REG1A_HUMAN	C	81	ENSP00000233735:G81C	ENSP00000233735:G81C	G	+	1	0	REG1A	79202679	0.607000	0.26958	0.114000	0.21550	0.603000	0.37013	1.520000	0.35899	0.759000	0.33084	0.563000	0.77884	GGT		0.517	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		12	105	1	0	7.93312e-07	0.00245	1.14129e-06	12	105				
ANKRD36	375248	broad.mit.edu	37	2	97860624	97860624	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:97860624G>A	ENST00000461153.2	+	40	2765	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	ANKRD36_ENST00000420699.2_Missense_Mutation_p.G841R			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	841								p.G841R(1)|p.G773R(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATAACCAGAGGAAAAAAGGA	0.338																																							uc010yva.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2521-2523)GGA>AGA		ankyrin repeat domain 36							127.0	131.0	129.0					2																	97860624		692	1591	2283	SO:0001583	missense	375248							g.chr2:97860624G>A	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2521G>A	2.37:g.97860624G>A	ENSP00000419530:p.Gly841Arg					ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_RNA|ANKRD36_uc002sxq.1_Intron	p.G841R	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			40	2765	+			841					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2521G>A	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	0.177	-1.065610	0.01934	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.75938	-0.98;-0.98	0.659	-0.4	0.12411	.	.	.	.	.	T	0.45518	0.1346	N	0.08118	0	0.09310	N	1	B	0.24721	0.11	B	0.12837	0.008	T	0.21690	-1.0238	8	0.15499	T	0.54	.	.	.	.	.	841	A6QL64	AN36A_HUMAN	R	841;841;203	ENSP00000419530:G841R;ENSP00000391950:G841R	ENSP00000391950:G841R	G	+	1	0	ANKRD36	97224351	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.933000	0.40153	-0.548000	0.06199	-1.050000	0.02344	GGA		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	14	0	0	0	0.004672	0	3	14				
RANBP2	5903	broad.mit.edu	37	2	109374925	109374925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:109374925G>T	ENST00000283195.6	+	18	2649	c.2523G>T	c.(2521-2523)tgG>tgT	p.W841C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	841					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.W841C(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTCATCGTTGGCCCACAGAGA	0.398																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(2521-2523)TGG>TGT		RAN binding protein 2							153.0	198.0	183.0					2																	109374925		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109374925G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2523G>T	2.37:g.109374925G>T	ENSP00000283195:p.Trp841Cys						p.W841C	NM_006267	NP_006258	P49792	RBP2_HUMAN			18	2649	+			841					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2523G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662783	0.67700	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.21543	2.0	5.2	5.2	0.72013	.	.	.	.	.	T	0.36026	0.0952	L	0.32530	0.975	0.51012	D	0.999907	D	0.76494	0.999	D	0.64042	0.921	T	0.14117	-1.0484	9	0.87932	D	0	-6.6961	18.7387	0.91765	0.0:0.0:1.0:0.0	.	841	P49792	RBP2_HUMAN	C	841	ENSP00000283195:W841C	ENSP00000283195:W841C	W	+	3	0	RANBP2	108741357	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	4.528000	0.60580	2.419000	0.82065	0.542000	0.68232	TGG		0.398	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		46	333	1	0	7.05121e-23	0.002522	1.27526e-22	46	333				
MERTK	10461	broad.mit.edu	37	2	112786085	112786085	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:112786085G>A	ENST00000295408.4	+	19	2901	c.2644G>A	c.(2644-2646)Gag>Aag	p.E882K	MERTK_ENST00000409780.1_Missense_Mutation_p.E706K|MERTK_ENST00000421804.2_Missense_Mutation_p.E882K			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	882					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E882K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGAGAGCTCTGAGGGCCTGGC	0.527																																							uc002thk.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(2644-2646)GAG>AAG		MER receptor tyrosine kinase precursor							126.0	129.0	128.0					2																	112786085		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786085G>A	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2644G>A	2.37:g.112786085G>A	ENSP00000295408:p.Glu882Lys					MERTK_uc002thl.1_Missense_Mutation_p.E706K	p.E882K	NM_006343	NP_006334	Q12866	MERTK_HUMAN			19	2766	+			882			Cytoplasmic (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2644G>A	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809386	0.31961	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;D	0.83992	-0.91;-0.91;-0.89;-1.79	5.73	4.85	0.62838	Protein kinase-like domain (1);	0.000000	0.33712	U	0.004639	T	0.75042	0.3796	M	0.67953	2.075	0.33009	D	0.52733	P	0.35433	0.501	B	0.27608	0.081	T	0.75331	-0.3355	10	0.19590	T	0.45	-30.3281	7.6745	0.28478	0.1385:0.1582:0.7033:0.0	.	882	Q12866	MERTK_HUMAN	K	882;882;541;706;206	ENSP00000295408:E882K;ENSP00000389152:E882K;ENSP00000387277:E706K;ENSP00000412660:E206K	ENSP00000295408:E882K	E	+	1	0	MERTK	112502556	0.993000	0.37304	0.624000	0.29186	0.047000	0.14425	2.751000	0.47508	2.712000	0.92718	0.655000	0.94253	GAG		0.527	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			7	156	0	0	0	0.001984	0	7	156				
GPR148	344561	broad.mit.edu	37	2	131486884	131486884	+	Missense_Mutation	SNP	C	C	T	rs142929079		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:131486884C>T	ENST00000309926.4	+	1	242	c.160C>T	c.(160-162)Ctt>Ttt	p.L54F		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	54				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L54F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTGGCTTTTCCTTCCCTCAAG	0.632																																							uc002trv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(160-162)CTT>TTT		G protein-coupled receptor 148							73.0	65.0	68.0					2																	131486884		2203	4300	6503	SO:0001583	missense	344561					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:131486884C>T	AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.160C>T	2.37:g.131486884C>T	ENSP00000308908:p.Leu54Phe						p.L54F	NM_207364	NP_997247	Q8TDV2	GP148_HUMAN			1	162	+	Colorectal(110;0.1)		54	CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		Helical; Name=1; (Potential).		Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	c.160C>T	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	14.73	2.621948	0.46840	.	.	ENSG00000173302	ENST00000309926	T	0.38887	1.11	2.77	0.567	0.17325	.	0.253832	0.22768	U	0.055880	T	0.17408	0.0418	N	0.08118	0	0.24908	N	0.992061	B	0.15719	0.014	B	0.12156	0.007	T	0.08973	-1.0696	10	0.37606	T	0.19	-2.3274	3.1318	0.06425	0.405:0.442:0.0:0.1529	.	54	Q8TDV2	GP148_HUMAN	F	54	ENSP00000308908:L54F	ENSP00000308908:L54F	L	+	1	0	GPR148	131203354	0.263000	0.24083	0.090000	0.20809	0.269000	0.26545	0.534000	0.23098	0.454000	0.26884	0.462000	0.41574	CTT		0.632	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3	XM_293092		3	50	0	0	0	0.004672	0	3	50				
AMER3	205147	broad.mit.edu	37	2	131521386	131521386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:131521386G>T	ENST00000423981.1	+	2	1851	c.1741G>T	c.(1741-1743)Gag>Tag	p.E581*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.E581*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	581					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E581*(1)									GCTCGCCGGAGAGAGCAAGGC	0.657																																							uc002trw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1741-1743)GAG>TAG		hypothetical protein LOC205147							34.0	40.0	38.0					2																	131521386		2203	4298	6501	SO:0001587	stop_gained	205147							g.chr2:131521386G>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1741G>T	2.37:g.131521386G>T	ENSP00000392700:p.Glu581*					FAM123C_uc010fmv.2_Nonsense_Mutation_p.E581*|FAM123C_uc010fms.1_Nonsense_Mutation_p.E581*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.E581*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.E581*	p.E581*	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1931	+	Colorectal(110;0.1)		581					B7ZLH6	Nonsense_Mutation	SNP	ENST00000423981.1	37	c.1741G>T	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	37	6.576322	0.97676	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	.	.	.	4.84	3.96	0.45880	.	1.407460	0.04925	N	0.455759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-15.854	9.3274	0.38001	0.1015:0.0:0.8985:0.0	.	.	.	.	X	581	.	ENSP00000314914:E581X	E	+	1	0	FAM123C	131237856	0.017000	0.18338	0.084000	0.20598	0.025000	0.11179	1.312000	0.33574	1.162000	0.42619	0.561000	0.74099	GAG		0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		7	57	1	0	2.0095e-06	0.001984	2.83299e-06	7	57				
PKP4	8502	broad.mit.edu	37	2	159488326	159488326	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:159488326G>T	ENST00000389759.3	+	8	1327	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V	PKP4_ENST00000389757.3_Silent_p.V405V	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	405					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.V405V(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GTTCTGCCGTGTCTCCCGACT	0.498										HNSCC(62;0.18)																													uc002tzv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(1213-1215)GTG>GTT		plakophilin 4 isoform a							177.0	158.0	164.0					2																	159488326		2203	4300	6503	SO:0001819	synonymous_variant	8502				cell adhesion	desmosome	protein binding	g.chr2:159488326G>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1215G>T	2.37:g.159488326G>T		HNSCC(62;0.18)				PKP4_uc002tzt.1_Silent_p.V257V|PKP4_uc002tzu.2_Silent_p.V405V|PKP4_uc002tzw.2_Silent_p.V405V|PKP4_uc002tzx.2_Silent_p.V63V|PKP4_uc002tzy.1_Silent_p.V63V|PKP4_uc002tzz.1_Silent_p.V403V|PKP4_uc002uaa.2_Silent_p.V257V	p.V405V	NM_003628	NP_003619	Q99569	PKP4_HUMAN			8	1475	+			405					Q86W91	Silent	SNP	ENST00000389759.3	37	c.1215G>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	5.469	0.271503	0.10349	.	.	ENSG00000144283	ENST00000428353	.	.	.	5.97	2.55	0.30701	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63994	-0.6511	5	0.87932	D	0	-4.4612	6.4044	0.21656	0.2746:0.2493:0.4761:0.0	.	.	.	.	F	257	.	ENSP00000397471:C257F	C	+	2	0	PKP4	159196572	0.999000	0.42202	1.000000	0.80357	0.407000	0.30961	0.492000	0.22435	1.545000	0.49373	-0.136000	0.14681	TGT		0.498	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			17	138	1	0	1.99824e-07	0.00499	2.98322e-07	17	138				
SCRN3	79634	broad.mit.edu	37	2	175265748	175265748	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:175265748A>T	ENST00000272732.6	+	4	454	c.372A>T	c.(370-372)gaA>gaT	p.E124D	SCRN3_ENST00000409673.3_Missense_Mutation_p.E117D	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	124							dipeptidase activity (GO:0016805)	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323																																							uc002uiq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(370-372)GAA>GAT		secernin 3							39.0	40.0	40.0					2																	175265748		2203	4300	6503	SO:0001583	missense	79634				proteolysis		dipeptidase activity	g.chr2:175265748A>T	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	ENST00000272732.6:c.372A>T	2.37:g.175265748A>T	ENSP00000272732:p.Glu124Asp					SCRN3_uc010zen.1_Missense_Mutation_p.E117D|SCRN3_uc010zeo.1_Intron	p.E124D	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		4	460	+			124					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Missense_Mutation	SNP	ENST00000272732.6	37	c.372A>T	CCDS2258.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932902	0.52866	.	.	ENSG00000144306	ENST00000458563;ENST00000409673;ENST00000272732;ENST00000427038;ENST00000548031	T;T;T;T;T	0.32515	1.97;1.97;1.97;1.45;1.97	5.57	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.67953	2.075	0.40669	D	0.982191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.43702	-0.9375	10	0.30078	T	0.28	-23.8686	10.856	0.46800	0.8631:0.0:0.1369:0.0	.	117;124	B4DI11;Q0VDG4	.;SCRN3_HUMAN	D	124;117;124;124;124	ENSP00000396884:E124D;ENSP00000387142:E117D;ENSP00000272732:E124D;ENSP00000408376:E124D;ENSP00000446727:E124D	ENSP00000272732:E124D	E	+	3	2	SCRN3	174973994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.716000	0.47219	1.001000	0.39076	0.472000	0.43445	GAA		0.323	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	NM_024583		4	22	0	0	0	0.000602	0	4	22				
TTN	7273	broad.mit.edu	37	2	179544735	179544735	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:179544735C>T	ENST00000591111.1	-	138	32739	c.32515G>A	c.(32515-32517)Gag>Aag	p.E10839K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9912K|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E11156K			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E9912K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAACTTCCTCTTCAAAGGCA	0.373																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(29734-29736)GAG>AAG		titin isoform N2-A							125.0	114.0	118.0					2																	179544735		1866	4085	5951	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179544735C>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.32515G>A	2.37:g.179544735C>T	ENSP00000465570:p.Glu10839Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6573K|TTN_uc010fre.1_Intron|TTN_uc002una.1_5'Flank|TTN_uc010frf.1_5'Flank	p.E9912K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		137	29958	-			10839					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.29734G>A		.	.	.	.	.	.	.	.	.	.	C	16.37	3.105350	0.56291	.	.	ENSG00000155657	ENST00000342992	T	0.64085	-0.08	6.03	6.03	0.97812	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.79446	0.4447	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.80826	-0.1209	8	0.87932	D	0	.	16.0569	0.80812	0.0:1.0:0.0:0.0	.	10839	Q8WZ42	TITIN_HUMAN	K	9912	ENSP00000343764:E9912K	ENSP00000343764:E9912K	E	-	1	0	TTN	179252980	0.997000	0.39634	1.000000	0.80357	0.906000	0.53458	1.205000	0.32308	2.861000	0.98227	0.655000	0.94253	GAG		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	72	0	0	0	0.000978	0	10	72				
TTN	7273	broad.mit.edu	37	2	179560074	179560074	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:179560074C>A	ENST00000591111.1	-	113	30544		c.e113+1		TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Splice_Site			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAATTACTTACCTTTAGGAGG	0.358																																							uc010zfg.1		NA																	1	Unknown(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.e112+1		titin isoform N2-A							168.0	164.0	165.0					2																	179560074		1850	4083	5933	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179560074C>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.30319+1G>T	2.37:g.179560074C>A						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.V5841_splice|TTN_uc010fre.1_Splice_Site_p.V291_splice	p.V9180_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		112	27762	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.27538_splice		.	.	.	.	.	.	.	.	.	.	C	15.71	2.915261	0.52546	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3046	0.73982	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179268319	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	4.897000	0.63231	2.676000	0.91093	0.655000	0.94253	.		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	7	99	1	0	0.00198382	0.001984	0.00247684	7	99				
ITGA4	3676	broad.mit.edu	37	2	182339792	182339792	+	Splice_Site	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:182339792T>A	ENST00000397033.2	+	3	855	c.425T>A	c.(424-426)gTg>gAg	p.V142E	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Splice_Site_p.V142E	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	142					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.V142E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GGATCCATCGTGGTAGGTATT	0.448																																							uc002unu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(424-426)GTG>GAG		integrin alpha 4 precursor	Natalizumab(DB00108)						89.0	88.0	89.0					2																	182339792		1916	4142	6058	SO:0001630	splice_region_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182339792T>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.426+1T>A	2.37:g.182339792T>A						ITGA4_uc010zfl.1_Missense_Mutation_p.V142E	p.V142E	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		3	1188	+			142			FG-GAP 2.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.425T>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	31	5.059191	0.93846	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.74106	0.48;-0.81;-0.81	5.43	5.43	0.79202	.	0.072408	0.64402	D	0.000019	D	0.82875	0.5132	M	0.82323	2.585	0.58432	D	0.999996	D;D	0.61697	0.968;0.99	P;P	0.52066	0.615;0.689	D	0.86290	0.1673	10	0.87932	D	0	.	15.7693	0.78152	0.0:0.0:0.0:1.0	.	142;142	E7EP60;P13612	.;ITA4_HUMAN	E	142	ENSP00000340149:V142E;ENSP00000380227:V142E;ENSP00000233573:V142E	ENSP00000233573:V142E	V	+	2	0	ITGA4	182048037	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	6.809000	0.75211	2.180000	0.69256	0.533000	0.62120	GTG		0.448	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		Missense_Mutation	5	34	0	0	0	0.000602	0	5	34				
ZNF804A	91752	broad.mit.edu	37	2	185802546	185802546	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:185802546C>T	ENST00000302277.6	+	4	3017	c.2423C>T	c.(2422-2424)cCt>cTt	p.P808L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	808							metal ion binding (GO:0046872)	p.P808L(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCCTGCAAGCCTAAAAAGAAA	0.388																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2422-2424)CCT>CTT		zinc finger protein 804A							46.0	52.0	50.0					2																	185802546		2193	4292	6485	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802546C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2423C>T	2.37:g.185802546C>T	ENSP00000303252:p.Pro808Leu						p.P808L	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3017	+			808					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2423C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823288	0.50739	.	.	ENSG00000170396	ENST00000302277	T	0.09723	2.95	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000025	T	0.27027	0.0662	L	0.55481	1.735	0.45216	D	0.99822	D	0.69078	0.997	D	0.64595	0.927	T	0.00090	-1.2086	10	0.72032	D	0.01	-17.6473	14.635	0.68682	0.0:0.8548:0.1452:0.0	.	808	Q7Z570	Z804A_HUMAN	L	808	ENSP00000303252:P808L	ENSP00000303252:P808L	P	+	2	0	ZNF804A	185510791	0.987000	0.35691	0.982000	0.44146	0.464000	0.32679	2.757000	0.47557	2.750000	0.94351	0.655000	0.94253	CCT		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		15	97	0	0	0	0.004007	0	15	97				
ZSWIM2	151112	broad.mit.edu	37	2	187693457	187693457	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:187693457C>T	ENST00000295131.2	-	9	1195	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	386					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G386R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAACTTGTCCATCAATAGGG	0.348																																							uc002upu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1156-1158)GGA>AGA		zinc finger, SWIM domain containing 2							54.0	52.0	52.0					2																	187693457		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187693457C>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1156G>A	2.37:g.187693457C>T	ENSP00000295131:p.Gly386Arg						p.G386R	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		9	1196	-			386			RING-type 2.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.1156G>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391310	0.25118	.	.	ENSG00000163012	ENST00000295131	T	0.56776	0.44	4.99	3.09	0.35607	Zinc finger, RING/FYVE/PHD-type (1);	0.244954	0.29139	N	0.013026	T	0.35711	0.0941	L	0.33485	1.01	0.25725	N	0.985334	B	0.24258	0.1	B	0.26094	0.066	T	0.21655	-1.0239	10	0.11485	T	0.65	-6.626	7.7591	0.28942	0.0:0.7863:0.0:0.2137	.	386	Q8NEG5	ZSWM2_HUMAN	R	386	ENSP00000295131:G386R	ENSP00000295131:G386R	G	-	1	0	ZSWIM2	187401702	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.562000	0.45914	0.553000	0.29044	0.591000	0.81541	GGA		0.348	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		4	27	0	0	0	0.000248	0	4	27				
COL5A2	1290	broad.mit.edu	37	2	189929292	189929292	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:189929292T>A	ENST00000374866.3	-	25	1981	c.1707A>T	c.(1705-1707)ccA>ccT	p.P569P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	569					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.P569P(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCGAGCACCTGGAAGCCCAG	0.512																																							uc002uqk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1705-1707)CCA>CCT		alpha 2 type V collagen preproprotein							52.0	54.0	53.0					2																	189929292		2203	4300	6503	SO:0001819	synonymous_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189929292T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1707A>T	2.37:g.189929292T>A						COL5A2_uc010frx.2_Silent_p.P145P	p.P569P	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		25	1982	-			569					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	c.1707A>T	CCDS33350.1																																																																																				0.512	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		10	59	0	0	0	0.008291	0	10	59				
SATB2	23314	broad.mit.edu	37	2	200246493	200246493	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:200246493C>A	ENST00000417098.1	-	4	1213	c.397G>T	c.(397-399)Gat>Tat	p.D133Y	SATB2_ENST00000457245.1_Missense_Mutation_p.D133Y|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000443023.1_Missense_Mutation_p.D74Y|SATB2_ENST00000260926.5_Missense_Mutation_p.D133Y	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	133					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.D133Y(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCGGGTGCATCTGTCACATAA	0.433																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(397-399)GAT>TAT		SATB homeobox 2							103.0	96.0	99.0					2																	200246493		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200246493C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.397G>T	2.37:g.200246493C>A	ENSP00000401112:p.Asp133Tyr					SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.D133Y|SATB2_uc002uva.1_Missense_Mutation_p.D133Y	p.D133Y	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			4	1214	-			133					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.397G>T	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330698	0.81690	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.87939	0.6304	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88208	0.2888	10	0.87932	D	0	-19.4495	19.976	0.97309	0.0:1.0:0.0:0.0	.	133	Q9UPW6	SATB2_HUMAN	Y	133;74;133;133	ENSP00000401112:D133Y;ENSP00000388764:D74Y;ENSP00000260926:D133Y;ENSP00000405420:D133Y	ENSP00000260926:D133Y	D	-	1	0	SATB2	199954738	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.713000	0.92767	0.655000	0.94253	GAT		0.433	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		5	65	1	0	1.23904e-05	0.000602	1.69033e-05	5	65				
ZDBF2	57683	broad.mit.edu	37	2	207169464	207169464	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:207169464T>C	ENST00000374423.3	+	5	598	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	71							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.V71A(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGACACATGTGAATACTGGG	0.373																																							uc002vbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(211-213)GTG>GCG		zinc finger, DBF-type containing 2							77.0	74.0	75.0					2																	207169464		1939	4135	6074	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169464T>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.212T>C	2.37:g.207169464T>C	ENSP00000363545:p.Val71Ala						p.V71A	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	462	+			71					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.212T>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	5.599	0.295347	0.10622	.	.	ENSG00000204186	ENST00000374423	T	0.16196	2.36	4.95	-9.9	0.00461	.	3.061860	0.01704	N	0.027322	T	0.05227	0.0139	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29212	-1.0019	10	0.02654	T	1	.	3.1493	0.06483	0.3232:0.4322:0.0813:0.1634	.	71	Q9HCK1	ZDBF2_HUMAN	A	71	ENSP00000363545:V71A	ENSP00000363545:V71A	V	+	2	0	ZDBF2	206877709	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.708000	0.01891	-2.697000	0.00400	-0.344000	0.07964	GTG		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	57	0	0	0	0.001168	0	6	57				
METTL21A	151194	broad.mit.edu	37	2	208489097	208489097	+	Start_Codon_SNP	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:208489097C>T	ENST00000411432.1	-	2	219	c.3G>A	c.(1-3)atG>atA	p.M1I	METTL21A_ENST00000448007.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000272839.3_Start_Codon_SNP_p.M1I|METTL21A_ENST00000458426.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000406927.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000425132.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000448823.2_Start_Codon_SNP_p.M1I|METTL21A_ENST00000426075.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000442521.1_Start_Codon_SNP_p.M1I|METTL21A_ENST00000432416.1_Start_Codon_SNP_p.M1I	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	1					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)	p.M1I(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						GCACGAGGGCCATTCCGCCTG	0.522																																							uc002vcf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>ATA		hypothetical protein LOC151194							52.0	54.0	53.0					2																	208489097		2203	4300	6503	SO:0001582	initiator_codon_variant	151194					integral to membrane	methyltransferase activity	g.chr2:208489097C>T	AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.3G>A	2.37:g.208489097C>T	ENSP00000415115:p.Met1Ile					FAM119A_uc002vce.2_Missense_Mutation_p.M1I|FAM119A_uc010fuk.1_Missense_Mutation_p.M1I|FAM119A_uc002vcg.3_Missense_Mutation_p.M1I	p.M1I	NM_145280	NP_660323	Q8WXB1	MT21A_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0705)|Epithelial(149;0.131)|Lung(261;0.135)	2	163	-			1					Q53RV0|Q8N1Z9|Q96GH6	Missense_Mutation	SNP	ENST00000411432.1	37	c.3G>A	CCDS2376.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186292	0.78789	.	.	ENSG00000144401	ENST00000432416;ENST00000458426;ENST00000425132;ENST00000461419;ENST00000411432;ENST00000448007;ENST00000272839;ENST00000448823;ENST00000406927;ENST00000426075;ENST00000442521	T;T;T;T;T;T;T;T;T	0.35048	1.33;1.52;1.52;2.51;2.51;2.54;2.51;2.51;2.51	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	.	.	.	0.80722	D	1	P;D	0.58268	0.78;0.982	B;D	0.68943	0.265;0.961	T	0.65479	-0.6158	9	0.66056	D	0.02	-30.7359	18.4457	0.90682	0.0:1.0:0.0:0.0	.	1;1	Q8WXB1;Q8WXB1-2	MT21A_HUMAN;.	I	1	ENSP00000416570:M1I;ENSP00000389684:M1I;ENSP00000400730:M1I;ENSP00000415115:M1I;ENSP00000407622:M1I;ENSP00000272839:M1I;ENSP00000385481:M1I;ENSP00000403317:M1I;ENSP00000392062:M1I	ENSP00000272839:M1I	M	-	3	0	METTL21A	208197342	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	6.369000	0.73109	2.700000	0.92200	0.561000	0.74099	ATG		0.522	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337044.1	NM_145280	Missense_Mutation	7	61	0	0	0	0.004482	0	7	61				
MAP2	4133	broad.mit.edu	37	2	210560774	210560774	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:210560774G>T	ENST00000360351.4	+	7	4386	c.3880G>T	c.(3880-3882)Gta>Tta	p.V1294L	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.V1290L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1294					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.V1294L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TTTCATCACTGTAGTGCAAAC	0.527																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(3880-3882)GTA>TTA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						133.0	130.0	131.0					2																	210560774		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560774G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3880G>T	2.37:g.210560774G>T	ENSP00000353508:p.Val1294Leu					MAP2_uc002vdc.1_Missense_Mutation_p.V1294L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.V1290L	p.V1294L	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4128	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1294					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3880G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295251	0.60086	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.24151	1.87;1.87	5.6	5.6	0.85130	MAP2/Tau projection (1);	0.122241	0.36482	N	0.002565	T	0.44435	0.1293	M	0.61703	1.905	0.48511	D	0.99966	D;D	0.61697	0.988;0.99	P;P	0.60886	0.81;0.88	T	0.26360	-1.0105	10	0.54805	T	0.06	-14.2575	13.8538	0.63513	0.073:0.0:0.927:0.0	.	1290;1294	P11137-3;P11137	.;MAP2_HUMAN	L	1294;1290	ENSP00000353508:V1294L;ENSP00000392164:V1290L	ENSP00000353508:V1294L	V	+	1	0	MAP2	210269019	1.000000	0.71417	0.031000	0.17742	0.882000	0.50991	5.182000	0.65059	2.650000	0.89964	0.557000	0.71058	GTA		0.527	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		24	103	1	0	9.95505e-16	0.002299	1.68942e-15	24	103				
ERBB4	2066	broad.mit.edu	37	2	212576896	212576896	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:212576896C>A	ENST00000342788.4	-	9	1313	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	ERBB4_ENST00000402597.1_Missense_Mutation_p.D335Y|ERBB4_ENST00000436443.1_Missense_Mutation_p.D335Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	335					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|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)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D335Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CCAATGCCATCACAAGCTGTA	0.353										TSP Lung(8;0.080)																													uc002veg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1003-1005)GAT>TAT		v-erb-a erythroblastic leukemia viral oncogene							93.0	86.0	88.0					2																	212576896		2203	4299	6502	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212576896C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1003G>T	2.37:g.212576896C>A	ENSP00000342235:p.Asp335Tyr	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.D335Y|ERBB4_uc010zji.1_Missense_Mutation_p.D335Y|ERBB4_uc010zjj.1_Missense_Mutation_p.D335Y|ERBB4_uc010fut.1_Missense_Mutation_p.D335Y	p.D335Y	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	9	1101	-		Renal(323;0.06)|Lung NSC(271;0.197)	335			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1003G>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152544	0.57259	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.42900	0.96;0.96;0.96	5.14	5.14	0.70334	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	N	0.20766	0.605	0.80722	D	1	D;B;P;D;D	0.89917	1.0;0.45;0.748;1.0;1.0	D;B;P;D;D	0.83275	0.993;0.09;0.691;0.993;0.996	T	0.37126	-0.9719	10	0.14656	T	0.56	.	18.5944	0.91225	0.0:1.0:0.0:0.0	.	335;335;194;335;335	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.;.;.;.;ERBB4_HUMAN	Y	335	ENSP00000342235:D335Y;ENSP00000403204:D335Y;ENSP00000385565:D335Y	ENSP00000342235:D335Y	D	-	1	0	ERBB4	212285141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.386000	0.81285	0.467000	0.42956	GAT		0.353	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		7	45	1	0	0.00198382	0.001984	0.00247684	7	45				
PNKD	25953	broad.mit.edu	37	2	219206749	219206749	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:219206749C>G	ENST00000273077.4	+	7	714	c.663C>G	c.(661-663)atC>atG	p.I221M	PNKD_ENST00000258362.3_Missense_Mutation_p.I197M|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.I161M	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	221					glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCAGATCCGGGCCCTGG	0.602																																							uc002vhn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(661-663)ATC>ATG		myofibrillogenesis regulator 1 isoform 1							126.0	106.0	113.0					2																	219206749		2203	4300	6503	SO:0001583	missense	25953					membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	g.chr2:219206749C>G		CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.663C>G	2.37:g.219206749C>G	ENSP00000273077:p.Ile221Met					PNKD_uc002vhq.2_Missense_Mutation_p.I197M	p.I221M	NM_015488	NP_056303	Q8N490	PNKD_HUMAN		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	807	+		Renal(207;0.0474)	221					A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	ENST00000273077.4	37	c.663C>G	CCDS2411.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554118	0.45487	.	.	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.96136	-3.92;-3.92;-3.92	4.76	2.85	0.33270	Beta-lactamase-like (2);	0.102571	0.64402	D	0.000003	D	0.93605	0.7958	M	0.64260	1.97	0.33245	D	0.557709	P;P	0.48503	0.911;0.68	P;B	0.44811	0.461;0.356	D	0.93408	0.6766	10	0.66056	D	0.02	-15.029	8.5106	0.33215	0.0:0.7923:0.0:0.2077	.	197;221	Q8N490-3;Q8N490	.;PNKD_HUMAN	M	221;197;161	ENSP00000273077:I221M;ENSP00000258362:I197M;ENSP00000414400:I161M	ENSP00000258362:I197M	I	+	3	3	PNKD	218914993	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.322000	0.43814	0.505000	0.28104	0.561000	0.74099	ATC		0.602	PNKD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256775.2			7	58	0	0	0	0.00308	0	7	58				
LINC00471	151477	broad.mit.edu	37	2	232373893	232373893	+	RNA	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:232373893C>G	ENST00000313064.2	-	0	525					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471									p.R66S(1)									ACTCACTGTTCCTGTCTTCAT	0.502																																							uc002vrx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)AGG>AGC		RecName: Full=Uncharacterized protein C2orf52;							252.0	236.0	242.0					2																	232373893		2203	4300	6503			151477							g.chr2:232373893C>G	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232373893C>G							p.R66S	NR_024079					Epithelial(121;5.72e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	3	526	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)							Missense_Mutation	SNP	ENST00000313064.2	37	c.198G>C																																																																																					0.502	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		17	275	0	0	0	0.00499	0	17	275				
UGT1A6	54578	broad.mit.edu	37	2	234681013	234681013	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:234681013C>G	ENST00000305139.6	+	5	1546	c.1407C>G	c.(1405-1407)ggC>ggG	p.G469G	UGT1A6_ENST00000373424.1_Silent_p.G202G|UGT1A1_ENST00000609767.1_Silent_p.G471G|UGT1A8_ENST00000305208.5_Silent_p.G470G|UGT1A1_ENST00000608383.1_Silent_p.G470G|UGT1A10_ENST00000344644.5_Silent_p.G467G|UGT1A3_ENST00000482026.1_Silent_p.G471G|UGT1A5_ENST00000373414.3_Silent_p.G471G|UGT1A1_ENST00000373450.4_Silent_p.G467G|UGT1A4_ENST00000373409.3_Silent_p.G471G|UGT1A1_ENST00000608381.1_Silent_p.G471G|UGT1A9_ENST00000354728.4_Silent_p.G467G|UGT1A1_ENST00000609637.1_Silent_p.G467G|UGT1A7_ENST00000373426.3_Silent_p.G467G	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	469					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G467G(4)|p.G471G(3)|p.G469G(1)|p.G470G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGCACAAGGGCGCGCCACACC	0.627																																							uc002vuw.2		NA																	9	Substitution - coding silent(9)		lung(9)	skin(1)	1						c.(1411-1413)GGC>GGG		UDP glycosyltransferase 1 family, polypeptide A5							124.0	107.0	113.0					2																	234681013		2203	4300	6503	SO:0001819	synonymous_variant	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234681013C>G	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1407C>G	2.37:g.234681013C>G						UGT1A8_uc002vup.2_Silent_p.G467G|UGT1A10_uc002vur.2_Silent_p.G467G|UGT1A9_uc002vus.2_Silent_p.G467G|UGT1A7_uc002vut.2_Silent_p.G467G|UGT1A6_uc002vuu.2_Silent_p.G202G|UGT1A6_uc002vuv.3_Silent_p.G469G|UGT1A4_uc002vux.2_Silent_p.G471G|UGT1A3_uc002vuy.2_Silent_p.G471G|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Silent_p.G470G	p.G471G	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	5	1413	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	471					A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.1413C>G	CCDS2507.1																																																																																				0.627	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		10	120	0	0	0	0.008291	0	10	120				
COL6A3	1293	broad.mit.edu	37	2	238283131	238283131	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr2:238283131G>C	ENST00000295550.4	-	8	4055	c.3603C>G	c.(3601-3603)atC>atG	p.I1201M	COL6A3_ENST00000472056.1_Missense_Mutation_p.I594M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I995M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I995M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I1001M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I1000M|COL6A3_ENST00000392003.2_Missense_Mutation_p.I794M|COL6A3_ENST00000392004.3_Missense_Mutation_p.I995M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1201	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I995M(1)|p.I1201M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCTCTCAGAGATGACCTGTT	0.612																																							uc002vwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3601-3603)ATC>ATG		alpha 3 type VI collagen isoform 1 precursor							70.0	61.0	64.0					2																	238283131		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283131G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3603C>G	2.37:g.238283131G>C	ENSP00000295550:p.Ile1201Met					COL6A3_uc002vwo.2_Missense_Mutation_p.I995M|COL6A3_uc010znj.1_Missense_Mutation_p.I594M|COL6A3_uc002vwq.2_Missense_Mutation_p.I995M|COL6A3_uc002vwr.2_Missense_Mutation_p.I794M	p.I1201M	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3888	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1201			Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3603C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815381	0.50527	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	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	4.97	4.09	0.47781	von Willebrand factor, type A (2);	0.714882	0.12513	N	0.462357	T	0.59609	0.2206	L	0.39514	1.22	0.37123	D	0.900912	D;P;P;D;P	0.69078	0.997;0.766;0.562;0.991;0.655	D;P;P;D;B	0.70227	0.968;0.812;0.812;0.937;0.398	T	0.59685	-0.7408	10	0.45353	T	0.12	.	6.7401	0.23431	0.0729:0.1261:0.6711:0.1299	.	594;794;995;995;1201	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	M	1201;1000;995;594;995;1001;995;794	ENSP00000295550:I1201M;ENSP00000315609:I1000M;ENSP00000315873:I995M;ENSP00000418285:I594M;ENSP00000386844:I995M;ENSP00000295546:I1001M;ENSP00000375861:I995M;ENSP00000375860:I794M	ENSP00000295550:I1201M	I	-	3	3	COL6A3	237947870	1.000000	0.71417	0.984000	0.44739	0.450000	0.32258	1.839000	0.39220	1.234000	0.43709	0.655000	0.94253	ATC		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	51	0	0	0	0.001168	0	6	51				
BMP2	650	broad.mit.edu	37	20	6759046	6759046	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:6759046C>G	ENST00000378827.4	+	3	1720	c.501C>G	c.(499-501)ttC>ttG	p.F167L		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	167					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)	p.F167L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						ATAGCAGTTTCCATCACCGAA	0.413																																							uc002wmu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(499-501)TTC>TTG		bone morphogenetic protein 2 preproprotein	Simvastatin(DB00641)						62.0	65.0	64.0					20																	6759046		2203	4300	6503	SO:0001583	missense	650				BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding	g.chr20:6759046C>G		CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.501C>G	20.37:g.6759046C>G	ENSP00000368104:p.Phe167Leu						p.F167L	NM_001200	NP_001191	P12643	BMP2_HUMAN			3	1286	+			167						Missense_Mutation	SNP	ENST00000378827.4	37	c.501C>G	CCDS13099.1	.	.	.	.	.	.	.	.	.	.	C	8.348	0.830218	0.16749	.	.	ENSG00000125845	ENST00000378827	T	0.63913	-0.07	5.76	4.83	0.62350	Transforming growth factor-beta, N-terminal (1);	0.347854	0.37483	N	0.002068	T	0.45013	0.1321	L	0.31926	0.97	0.31141	N	0.706586	B	0.21821	0.061	B	0.22386	0.039	T	0.42531	-0.9446	10	0.12103	T	0.63	.	7.0357	0.24993	0.1408:0.7174:0.0:0.1418	.	167	P12643	BMP2_HUMAN	L	167	ENSP00000368104:F167L	ENSP00000368104:F167L	F	+	3	2	BMP2	6707046	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.551000	0.36233	1.580000	0.49851	0.650000	0.86243	TTC		0.413	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077918.3			5	64	0	0	0	0.001168	0	5	64				
ANKEF1	63926	broad.mit.edu	37	20	10030676	10030676	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:10030676G>A	ENST00000378380.3	+	6	1788	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D487N|ANKEF1_ENST00000488991.1_3'UTR	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	487							calcium ion binding (GO:0005509)	p.D487N(1)									TTGGTACATTGATGATTCAGA	0.398																																							uc002wno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1459-1461)GAT>AAT		ankyrin repeat domain protein 5							129.0	120.0	124.0					20																	10030676		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10030676G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1459G>A	20.37:g.10030676G>A	ENSP00000367631:p.Asp487Asn					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.D487N|ANKRD5_uc010gbz.2_Missense_Mutation_p.D298N	p.D487N	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			7	1852	+			487					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.1459G>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.659375	0.88154	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.69806	-0.43;-0.43	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.040834	0.85682	D	0.000000	T	0.79759	0.4501	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.75291	-0.3369	10	0.33940	T	0.23	0.1033	20.3626	0.98863	0.0:0.0:1.0:0.0	.	487	Q9NU02	ANKR5_HUMAN	N	487	ENSP00000367644:D487N;ENSP00000367631:D487N	ENSP00000367631:D487N	D	+	1	0	ANKRD5	9978676	1.000000	0.71417	0.999000	0.59377	0.661000	0.39034	6.915000	0.75770	2.885000	0.99019	0.655000	0.94253	GAT		0.398	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		41	119	0	0	0	0.00874	0	41	119				
CFAP61	26074	broad.mit.edu	37	20	20051546	20051546	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:20051546C>A	ENST00000245957.5	+	3	268	c.192C>A	c.(190-192)atC>atA	p.I64I	C20orf26_ENST00000377309.2_De_novo_Start_InFrame|C20orf26_ENST00000389656.3_De_novo_Start_InFrame|C20orf26_ENST00000377306.1_Silent_p.I64I|C20orf26_ENST00000451767.2_Silent_p.I64I	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		64								p.I64I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGGAGGAGATCATGGCCCAGG	0.488																																							uc002wru.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(190-192)ATC>ATA		hypothetical protein LOC26074							103.0	85.0	91.0					20																	20051546		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20051546C>A																												ENST00000245957.5:c.192C>A	20.37:g.20051546C>A						C20orf26_uc010gcw.1_Silent_p.I18I|C20orf26_uc010zse.1_Silent_p.I64I|C20orf26_uc010zsf.1_Silent_p.I64I	p.I64I	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	3	268	+			64					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.192C>A	CCDS33447.1																																																																																				0.488	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			6	52	1	0	0.00116845	0.001168	0.00148222	6	52				
CTCFL	140690	broad.mit.edu	37	20	56093924	56093924	+	Missense_Mutation	SNP	C	C	T	rs143392924		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:56093924C>T	ENST00000608263.1	-	4	1610	c.949G>A	c.(949-951)Gac>Aac	p.D317N	CTCFL_ENST00000429804.3_Missense_Mutation_p.D317N|CTCFL_ENST00000608440.1_Missense_Mutation_p.D317N|CTCFL_ENST00000481655.2_Missense_Mutation_p.D317N|CTCFL_ENST00000433949.3_Missense_Mutation_p.D112N|CTCFL_ENST00000243914.3_Missense_Mutation_p.D317N|CTCFL_ENST00000422869.2_Missense_Mutation_p.D317N|CTCFL_ENST00000432255.2_Missense_Mutation_p.D317N|CTCFL_ENST00000371196.2_Missense_Mutation_p.D317N|CTCFL_ENST00000608158.1_Missense_Mutation_p.D317N|CTCFL_ENST00000608425.1_Missense_Mutation_p.D317N|CTCFL_ENST00000608903.1_Missense_Mutation_p.D55N|CTCFL_ENST00000502686.2_Missense_Mutation_p.D55N|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000539382.1_Missense_Mutation_p.D112N|CTCFL_ENST00000423479.3_Missense_Mutation_p.D317N|CTCFL_ENST00000609232.1_Missense_Mutation_p.D317N	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	317					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.D317N(3)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATGTTGCAGTCGTTACACTTG	0.398																																							uc010gix.1		NA																	3	Substitution - Missense(3)	p.D317N(1)	lung(1)|endometrium(1)|skin(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(949-951)GAC>AAC		CCCTC-binding factor-like protein							142.0	126.0	131.0					20																	56093924		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56093924C>T		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.949G>A	20.37:g.56093924C>T	ENSP00000476783:p.Asp317Asn					CTCFL_uc010giw.1_Missense_Mutation_p.D317N|CTCFL_uc002xym.2_Missense_Mutation_p.D317N|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.D317N|CTCFL_uc010gjb.1_Missense_Mutation_p.D317N|CTCFL_uc010gjc.1_Missense_Mutation_p.D317N|CTCFL_uc010gjd.1_Missense_Mutation_p.D317N|CTCFL_uc010gje.2_Missense_Mutation_p.D317N|CTCFL_uc010gjf.2_Missense_Mutation_p.D112N|CTCFL_uc010gjg.2_Missense_Mutation_p.D49N|CTCFL_uc010gjh.1_Missense_Mutation_p.D317N|CTCFL_uc010gji.1_Missense_Mutation_p.D112N|CTCFL_uc010gjj.1_Missense_Mutation_p.D317N|CTCFL_uc010gjk.1_Missense_Mutation_p.D317N|CTCFL_uc010gjl.1_Missense_Mutation_p.D317N	p.D317N	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		4	1611	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		317			C2H2-type 3.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.949G>A	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432815	0.83776	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000515	T	0.19565	0.0470	L	0.31526	0.94	0.49051	D	0.999741	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.977;1.0;1.0;0.989;1.0;1.0	D;D;P;D;D;P;D;D	0.97110	0.994;1.0;0.782;0.999;0.985;0.903;0.991;0.991	T	0.01757	-1.1280	10	0.66056	D	0.02	-45.8889	16.9368	0.86205	0.0:1.0:0.0:0.0	.	317;317;317;317;317;317;317;317	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	N	317;317;317;317;317;55;317;317;317;112;317	ENSP00000415579:D317N;ENSP00000243914:D317N;ENSP00000360239:D317N;ENSP00000415329:D317N;ENSP00000392034:D317N;ENSP00000437999:D55N;ENSP00000413713:D317N;ENSP00000403369:D317N;ENSP00000409344:D317N;ENSP00000439998:D112N;ENSP00000399061:D317N	ENSP00000243914:D317N	D	-	1	0	CTCFL	55527330	1.000000	0.71417	0.910000	0.35882	0.231000	0.25187	7.243000	0.78219	2.346000	0.79739	0.591000	0.81541	GAC		0.398	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		23	67	0	0	0	0.00278	0	23	67				
ZNF831	128611	broad.mit.edu	37	20	57769634	57769634	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr20:57769634G>T	ENST00000371030.2	+	1	3560	c.3560G>T	c.(3559-3561)tGc>tTc	p.C1187F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1187							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.C1187F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACGTGGTGTTGCCTGAGCCGC	0.642																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(3559-3561)TGC>TTC		zinc finger protein 831							38.0	44.0	42.0					20																	57769634		2072	4197	6269	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769634G>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3560G>T	20.37:g.57769634G>T	ENSP00000360069:p.Cys1187Phe						p.C1187F	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3560	+	all_lung(29;0.0085)		1187					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.3560G>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452230	0.63290	.	.	ENSG00000124203	ENST00000371030	T	0.30448	1.53	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000002	T	0.52484	0.1737	L	0.54323	1.7	0.44976	D	0.99799	D	0.89917	1.0	D	0.87578	0.998	T	0.55192	-0.8179	10	0.87932	D	0	-18.9257	17.3923	0.87435	0.0:0.0:1.0:0.0	.	1187	Q5JPB2	ZN831_HUMAN	F	1187	ENSP00000360069:C1187F	ENSP00000360069:C1187F	C	+	2	0	ZNF831	57203029	1.000000	0.71417	0.980000	0.43619	0.789000	0.44602	4.495000	0.60353	2.352000	0.79861	0.609000	0.83330	TGC		0.642	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		21	20	1	0	3.8784e-16	0.001882	6.61733e-16	21	20				
LIPI	149998	broad.mit.edu	37	21	15561477	15561477	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:15561477C>G	ENST00000536861.1	-	2	309	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	LIPI_ENST00000344577.2_Missense_Mutation_p.E125Q			Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.E125Q(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATATCTTCTTCATTCAGC	0.393																																							uc002yjm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(373-375)GAA>CAA		lipase, member I							85.0	81.0	83.0					21																	15561477		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561477C>G	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.310G>C	21.37:g.15561477C>G	ENSP00000440381:p.Glu104Gln					LIPI_uc010gkw.1_Missense_Mutation_p.E58Q	p.E125Q	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	383	-			104					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.373G>C		.	.	.	.	.	.	.	.	.	.	C	11.53	1.665725	0.29604	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90844	-2.74;-2.74	5.3	4.4	0.53042	.	0.691370	0.15412	N	0.263698	D	0.88698	0.6507	L	0.41824	1.3	0.09310	N	1	P;B	0.35700	0.516;0.167	B;B	0.42030	0.373;0.138	T	0.80781	-0.1229	10	0.39692	T	0.17	.	14.3719	0.66846	0.0:0.7183:0.2817:0.0	.	104;125	G1JSG6;Q6XZB0-2	.;.	Q	125;104	ENSP00000343331:E125Q;ENSP00000440381:E104Q	ENSP00000343331:E125Q	E	-	1	0	LIPI	14483348	0.929000	0.31497	0.431000	0.26735	0.374000	0.29953	2.385000	0.44371	1.347000	0.45714	0.655000	0.94253	GAA		0.393	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		10	62	0	0	0	0.006214	0	10	62				
KRTAP19-7	337974	broad.mit.edu	37	21	31933508	31933508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:31933508C>A	ENST00000334849.2	-	1	125	c.101G>T	c.(100-102)aGa>aTa	p.R34I		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	34						intermediate filament (GO:0005882)		p.R34I(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						ATAGCCCAGTCTGCGGAAGCT	0.537																																							uc011adb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(100-102)AGA>ATA		keratin associated protein 19-7							115.0	111.0	113.0					21																	31933508		2203	4300	6503	SO:0001583	missense	337974					intermediate filament		g.chr21:31933508C>A	AP001708	CCDS13599.1	21q22.1	2006-03-13			ENSG00000244362	ENSG00000244362		"""Keratin associated proteins"""	18942	protein-coding gene	gene with protein product						12359730	Standard	NM_181614		Approved	KAP19.7	uc011adb.2	Q3SYF9	OTTHUMG00000057785	ENST00000334849.2:c.101G>T	21.37:g.31933508C>A	ENSP00000334696:p.Arg34Ile						p.R34I	NM_181614	NP_853645	Q3SYF9	KR197_HUMAN			1	101	-			34					Q08EP7	Missense_Mutation	SNP	ENST00000334849.2	37	c.101G>T	CCDS13599.1	.	.	.	.	.	.	.	.	.	.	c	4.928	0.172474	0.09391	.	.	ENSG00000244362	ENST00000334849	T	0.11385	2.78	3.71	3.71	0.42584	.	.	.	.	.	T	0.23370	0.0565	.	.	.	0.09310	N	1	D	0.59767	0.986	P	0.57679	0.825	T	0.02721	-1.1119	8	0.87932	D	0	-5.6275	11.7647	0.51924	0.0:1.0:0.0:0.0	.	34	Q3SYF9	KR197_HUMAN	I	34	ENSP00000334696:R34I	ENSP00000334696:R34I	R	-	2	0	KRTAP19-7	30855379	0.000000	0.05858	0.052000	0.19188	0.156000	0.22039	0.019000	0.13444	2.057000	0.61298	0.405000	0.27470	AGA		0.537	KRTAP19-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128237.2			26	131	1	0	2.41591e-17	0.004656	4.2013e-17	26	131				
SYNJ1	8867	broad.mit.edu	37	21	34017287	34017287	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:34017287C>G	ENST00000322229.7	-	25	3420	c.3421G>C	c.(3421-3423)Gaa>Caa	p.E1141Q	SYNJ1_ENST00000382499.2_Missense_Mutation_p.E1180Q|SYNJ1_ENST00000382491.3_Intron|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1180Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.E1141Q			O43426	SYNJ1_HUMAN	synaptojanin 1	1141	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.E1141Q(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCTCCAAATTCCTTTCTAGTG	0.343																																							uc002yqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3538-3540)GAA>CAA		synaptojanin 1 isoform a							89.0	76.0	81.0					21																	34017287		2203	4299	6502	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34017287C>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3421G>C	21.37:g.34017287C>G	ENSP00000322234:p.Glu1141Gln					SYNJ1_uc011ads.1_Intron|SYNJ1_uc002yqf.2_Missense_Mutation_p.E1141Q|SYNJ1_uc002yqg.2_Intron|SYNJ1_uc002yqi.2_Missense_Mutation_p.E1180Q|SYNJ1_uc002yqe.3_5'Flank	p.E1180Q	NM_003895	NP_003886	O43426	SYNJ1_HUMAN			26	3538	-			1141			Pro-rich.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.3538G>C	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.58|11.58	1.682330|1.682330	0.29872|0.29872	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000438952	D;D;D;D|.	0.94138|.	-3.36;-3.3;-2.5;-2.47|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.323251|.	0.34362|.	N|.	0.004036|.	T|T	0.70824|0.70824	0.3268|0.3268	L|L	0.46157|0.46157	1.445|1.445	0.45822|0.45822	D|D	0.998699|0.998699	D;D;D|.	0.89917|.	0.997;1.0;0.998|.	D;D;D|.	0.85130|.	0.986;0.997;0.994|.	T|T	0.63287|0.63287	-0.6671|-0.6671	10|5	0.07325|.	T|.	0.83|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1180;1141;1141|.	C9JFZ1;O43426-2;O43426-4|.	.;.;.|.	Q|A	1141;1180;1180;1141|32	ENSP00000349903:E1141Q;ENSP00000371939:E1180Q;ENSP00000409667:E1180Q;ENSP00000322234:E1141Q|.	ENSP00000322234:E1141Q|.	E|G	-|-	1|2	0|0	SYNJ1|SYNJ1	32939158|32939158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	3.629000|3.629000	0.54266|0.54266	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.343	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				7	87	0	0	0	0.001984	0	7	87				
PCBP3	54039	broad.mit.edu	37	21	47361589	47361589	+	Missense_Mutation	SNP	C	C	T	rs201215749		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr21:47361589C>T	ENST00000400314.1	+	16	1423	c.1085C>T	c.(1084-1086)aCg>aTg	p.T362M	PCBP3_ENST00000400308.1_Missense_Mutation_p.T336M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T361M|PCBP3_ENST00000449640.1_Missense_Mutation_p.T362M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T342M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T352M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	362					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.T330M(1)|p.T362M(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCCAGGCTGACGTCCGAGGTC	0.652																																							uc002zhq.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1084-1086)ACG>ATG		poly(rC) binding protein 3 isoform 1		C	MET/THR,MET/THR	0,4344		0,0,2172	107.0	116.0	113.0		1007,1085	5.1	1.0	21		113	2,8502		0,2,4250	yes	missense,missense	PCBP3	NM_001130141.1,NM_020528.2	81,81	0,2,6422	TT,TC,CC		0.0235,0.0,0.0156	possibly-damaging,possibly-damaging	336/346,362/372	47361589	2,12846	2172	4252	6424	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47361589C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.1085C>T	21.37:g.47361589C>T	ENSP00000383168:p.Thr362Met					PCBP3_uc002zhp.1_Missense_Mutation_p.T342M|PCBP3_uc002zhs.1_Missense_Mutation_p.T336M|PCBP3_uc002zhr.1_Missense_Mutation_p.T361M|PCBP3_uc002zht.1_Missense_Mutation_p.T352M	p.T362M	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	14	1210	+	all_hematologic(128;0.24)		362					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.1085C>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476529	0.84640	0.0	2.35E-4	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.43294	1.52;1.52;1.51;1.5;1.52;1.92;0.95	5.11	5.11	0.69529	K Homology (1);	0.210289	0.39407	N	0.001377	T	0.42017	0.1184	L	0.29908	0.895	0.52099	D	0.999949	B;B;B;B;P	0.50272	0.053;0.145;0.057;0.033;0.933	B;B;B;B;P	0.47206	0.014;0.016;0.04;0.004;0.541	T	0.41840	-0.9486	10	0.62326	D	0.03	-0.303	18.5596	0.91095	0.0:1.0:0.0:0.0	.	352;336;361;362;342	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	M	362;342;361;336;362;342;313;352	ENSP00000383168:T362M;ENSP00000383165:T342M;ENSP00000383164:T361M;ENSP00000383163:T336M;ENSP00000401198:T362M;ENSP00000383160:T313M;ENSP00000383159:T352M	ENSP00000330225:T342M	T	+	2	0	PCBP3	46186017	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.136000	0.64783	2.386000	0.81285	0.655000	0.94253	ACG		0.652	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			14	52	0	0	0	0.00245	0	14	52				
SEZ6L	23544	broad.mit.edu	37	22	26690269	26690269	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr22:26690269G>A	ENST00000248933.6	+	3	942	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	SEZ6L_ENST00000404234.3_Missense_Mutation_p.V283M|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V283M|SEZ6L_ENST00000529632.2_Missense_Mutation_p.V283M|SEZ6L_ENST00000343706.4_Missense_Mutation_p.V283M|SEZ6L_ENST00000403121.1_Missense_Mutation_p.V56M|SEZ6L_ENST00000402979.1_Missense_Mutation_p.V56M			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	283	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.V283M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCTCTGCAGTGTGAGCTTCTC	0.517																																							uc003acb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(847-849)GTG>ATG		seizure related 6 homolog (mouse)-like							170.0	142.0	151.0					22																	26690269		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26690269G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.847G>A	22.37:g.26690269G>A	ENSP00000248933:p.Val283Met					SEZ6L_uc003acc.2_Missense_Mutation_p.V283M|SEZ6L_uc011akc.1_Missense_Mutation_p.V283M|SEZ6L_uc003acd.2_Missense_Mutation_p.V283M|SEZ6L_uc011akd.1_Missense_Mutation_p.V283M|SEZ6L_uc003ace.2_Missense_Mutation_p.V283M|SEZ6L_uc003acf.1_Missense_Mutation_p.V56M|SEZ6L_uc010gvc.1_Missense_Mutation_p.V56M	p.V283M	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			3	1003	+			283			CUB 1.|Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.847G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.355409	0.41700	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2;0.2	5.48	0.821	0.18799	CUB (5);	0.000000	0.48767	D	0.000177	T	0.52837	0.1759	L	0.46157	1.445	0.80722	D	1	P;P;P;D;P;D;P	0.58268	0.693;0.832;0.918;0.982;0.928;0.961;0.735	B;B;P;P;P;P;B	0.53146	0.34;0.444;0.458;0.548;0.719;0.544;0.444	T	0.48692	-0.9013	10	0.45353	T	0.12	.	3.734	0.08503	0.1273:0.1113:0.5332:0.2282	.	283;283;56;283;283;283;283	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	M	283;283;283;283;283;56;56	ENSP00000384772:V283M;ENSP00000437037:V283M;ENSP00000354185:V283M;ENSP00000248933:V283M;ENSP00000342661:V283M;ENSP00000384838:V56M;ENSP00000384733:V56M	ENSP00000248933:V283M	V	+	1	0	SEZ6L	25020269	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	3.425000	0.52771	0.253000	0.21552	0.586000	0.80456	GTG		0.517	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			24	128	0	0	0	0.005443	0	24	128				
DDX17	10521	broad.mit.edu	37	22	38890696	38890696	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr22:38890696T>A	ENST00000396821.3	-	8	1252	c.1153A>T	c.(1153-1155)Agt>Tgt	p.S385C	DDX17_ENST00000381633.3_Missense_Mutation_p.S306C|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	385					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)	p.S385C(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TGGTTGGCACTCAACTCCAGA	0.428																																					Ovarian(55;1085 1454 6392 21425)	Ovarian(55;1085 1454 6392 21425)	uc003avy.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(1153-1155)AGT>TGT		DEAD box polypeptide 17 isoform 3							180.0	156.0	164.0					22																	38890696		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38890696T>A	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1153A>T	22.37:g.38890696T>A	ENSP00000380033:p.Ser385Cys					DDX17_uc003avx.3_Missense_Mutation_p.S385C|DDX17_uc011anu.1_Missense_Mutation_p.S298C	p.S385C	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			8	1256	-	Melanoma(58;0.0286)		306					B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.1153A>T	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.385056	0.61956	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.33438	1.41;1.45;1.41	5.83	5.83	0.93111	DEAD-like helicase (1);	0.075355	0.85682	D	0.000000	T	0.39279	0.1072	M	0.77616	2.38	0.80722	D	1	B;B;B	0.32543	0.211;0.258;0.375	B;B;B	0.36959	0.082;0.119;0.237	T	0.36672	-0.9738	10	0.59425	D	0.04	-17.3934	11.3152	0.49388	0.1357:0.0:0.0:0.8643	.	306;387;385	Q92841;Q59F66;Q92841-4	DDX17_HUMAN;.;.	C	385;306;385;387	ENSP00000380033:S385C;ENSP00000371046:S306C;ENSP00000385536:S385C	ENSP00000371046:S306C	S	-	1	0	DDX17	37220642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.829000	0.69316	2.236000	0.73375	0.533000	0.62120	AGT		0.428	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		39	100	0	0	0	0.004289	0	39	100				
CHL1	10752	broad.mit.edu	37	3	447299	447299	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:447299G>T	ENST00000256509.2	+	28	4222	c.3580G>T	c.(3580-3582)Gat>Tat	p.D1194Y	CHL1_ENST00000397491.2_Missense_Mutation_p.D1178Y	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.D1194Y(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTCAGTGAAGATGGATCATT	0.468																																							uc003bou.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3532-3534)GAT>TAT		cell adhesion molecule with homology to L1CAM							146.0	138.0	141.0					3																	447299		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:447299G>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3580G>T	3.37:g.447299G>T	ENSP00000256509:p.Asp1194Tyr					CHL1_uc003bot.2_Missense_Mutation_p.D1194Y|CHL1_uc011asi.1_Missense_Mutation_p.D1141Y	p.D1178Y	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	27	3803	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1178			Cytoplasmic (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.3532G>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629409	0.87660	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	D;D	0.97455	-4.39;-4.39	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99486	1.0949	10	0.87932	D	0	.	19.8638	0.96797	0.0:0.0:1.0:0.0	.	1178;1194	O00533;O00533-2	CHL1_HUMAN;.	Y	1194;1178	ENSP00000256509:D1194Y;ENSP00000380628:D1178Y	ENSP00000256509:D1194Y	D	+	1	0	CHL1	422299	1.000000	0.71417	0.979000	0.43373	0.752000	0.42762	8.969000	0.93411	2.685000	0.91497	0.655000	0.94253	GAT		0.468	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		8	61	1	0	7.48243e-07	0.006214	1.08633e-06	8	61				
WNT7A	7476	broad.mit.edu	37	3	13896097	13896097	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:13896097C>A	ENST00000285018.4	-	3	806	c.502G>T	c.(502-504)Gat>Tat	p.D168Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	168					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.D168Y(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCCGGGCATCCACAAAGACC	0.622																																							uc003bye.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(502-504)GAT>TAT		wingless-type MMTV integration site family,							111.0	123.0	119.0					3																	13896097		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896097C>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.502G>T	3.37:g.13896097C>A	ENSP00000285018:p.Asp168Tyr						p.D168Y	NM_004625	NP_004616	O00755	WNT7A_HUMAN			3	807	-			168					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.502G>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867201	0.91511	.	.	ENSG00000154764	ENST00000285018	T	0.80480	-1.38	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.93275	0.7857	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95294	0.8397	10	0.72032	D	0.01	.	18.5613	0.91101	0.0:1.0:0.0:0.0	.	168	O00755	WNT7A_HUMAN	Y	168	ENSP00000285018:D168Y	ENSP00000285018:D168Y	D	-	1	0	WNT7A	13871098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.386000	0.81285	0.561000	0.74099	GAT		0.622	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		24	130	1	0	4.26978e-12	0.00333	6.93018e-12	24	130				
OXSM	54995	broad.mit.edu	37	3	25833258	25833258	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:25833258C>G	ENST00000280701.3	+	2	846	c.747C>G	c.(745-747)tcC>tcG	p.S249S	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	249					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.S249S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGGTTTTCCAGAGCCCGGG	0.478																																							uc003cdn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(745-747)TCC>TCG		3-oxoacyl-ACP synthase, mitochondrial isoform 1							92.0	94.0	93.0					3																	25833258		2203	4300	6503	SO:0001819	synonymous_variant	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833258C>G	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.747C>G	3.37:g.25833258C>G						NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_Intron|OXSM_uc010hfh.2_Intron	p.S249S	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	854	+			249						Silent	SNP	ENST00000280701.3	37	c.747C>G	CCDS2643.1																																																																																				0.478	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		16	134	0	0	0	0.003163	0	16	134				
NEK10	152110	broad.mit.edu	37	3	27332233	27332233	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:27332233T>G	ENST00000429845.2	-	20	1980	c.1618A>C	c.(1618-1620)Agt>Cgt	p.S540R	NEK10_ENST00000341435.5_Missense_Mutation_p.S540R|NEK10_ENST00000357467.2_Intron			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	540	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S540R(3)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTTGACCACTATGCTTTCTA	0.348																																							uc003cdt.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1)	13						c.(1618-1620)AGT>CGT		NIMA-related kinase 10 isoform 3							90.0	78.0	82.0					3																	27332233		1568	3581	5149	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27332233T>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1618A>C	3.37:g.27332233T>G	ENSP00000395849:p.Ser540Arg					NEK10_uc003cds.1_Intron	p.S540R	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN			20	1892	-			540			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.1618A>C		.	.	.	.	.	.	.	.	.	.	T	15.75	2.926016	0.52759	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.66638	-0.22	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089550	0.64402	D	0.000001	T	0.55752	0.1940	N	0.20766	0.605	0.80722	D	1	P	0.51653	0.947	B	0.43623	0.425	T	0.61941	-0.6959	10	0.52906	T	0.07	.	15.8179	0.78618	0.0:0.0:0.0:1.0	.	540	Q6ZWH5	NEK10_HUMAN	R	540	ENSP00000343847:S540R	ENSP00000343847:S540R	S	-	1	0	NEK10	27307237	1.000000	0.71417	0.993000	0.49108	0.849000	0.48306	4.329000	0.59260	2.194000	0.70268	0.533000	0.62120	AGT		0.348	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		4	50	0	0	0	0.001984	0	4	50				
LRRC2	79442	broad.mit.edu	37	3	46592962	46592962	+	Missense_Mutation	SNP	C	C	A	rs367715797		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:46592962C>A	ENST00000395905.3	-	2	512	c.120G>T	c.(118-120)ttG>ttT	p.L40F	AC104304.2_ENST00000583198.1_RNA|LRRC2_ENST00000296144.3_Missense_Mutation_p.L40F|LRRC2_ENST00000496388.1_Intron	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	40								p.L40F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CGTACTTCTCCAAGGCGCTCT	0.468																																							uc010hji.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(118-120)TTG>TTT		leucine rich repeat containing 2							128.0	130.0	129.0					3																	46592962		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592962C>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.120G>T	3.37:g.46592962C>A	ENSP00000379241:p.Leu40Phe					LRRC2_uc003cpu.3_Missense_Mutation_p.L40F	p.L40F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	484	-		Ovarian(412;0.0563)	40					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.120G>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200376	0.38905	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.21191	2.02;2.02	4.73	4.73	0.59995	.	0.000000	0.48286	D	0.000199	T	0.31513	0.0799	L	0.32530	0.975	0.51233	D	0.99991	D	0.71674	0.998	D	0.83275	0.996	T	0.01500	-1.1339	10	0.51188	T	0.08	.	9.0502	0.36372	0.0:0.9021:0.0:0.0979	.	40	Q9BYS8	LRRC2_HUMAN	F	40	ENSP00000379241:L40F;ENSP00000296144:L40F	ENSP00000296144:L40F	L	-	3	2	LRRC2	46567966	1.000000	0.71417	0.996000	0.52242	0.037000	0.13140	1.594000	0.36697	2.624000	0.88883	0.655000	0.94253	TTG		0.468	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			6	95	1	0	3.59834e-05	0.001168	4.82573e-05	6	95				
SMARCC1	6599	broad.mit.edu	37	3	47752263	47752263	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:47752263G>A	ENST00000254480.5	-	9	947	c.828C>T	c.(826-828)ttC>ttT	p.F276F	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	276					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)	p.F276F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCATTCATTGAAAATATCAG	0.338																																							uc003crq.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(826-828)TTC>TTT		SWI/SNF-related matrix-associated							101.0	94.0	97.0					3																	47752263		2203	4300	6503	SO:0001819	synonymous_variant	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47752263G>A	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.828C>T	3.37:g.47752263G>A						SMARCC1_uc011bbd.1_Silent_p.F167F	p.F276F	NM_003074	NP_003065	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	9	946	-			276					Q17RS0|Q6P172|Q8IWH2	Silent	SNP	ENST00000254480.5	37	c.828C>T	CCDS2758.1																																																																																				0.338	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			5	67	0	0	0	0.000602	0	5	67				
COL7A1	1294	broad.mit.edu	37	3	48620085	48620085	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:48620085C>A	ENST00000328333.8	-	44	4627	c.4520G>T	c.(4519-4521)gGg>gTg	p.G1507V	COL7A1_ENST00000454817.1_Splice_Site_p.G1507V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1507	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G1507V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTGGCAGCCCCTGGAGGAG	0.637																																							uc003ctz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4519-4521)GGG>GTG		alpha 1 type VII collagen precursor							43.0	41.0	41.0					3																	48620085		2203	4300	6503	SO:0001630	splice_region_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48620085C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4519-1G>T	3.37:g.48620085C>A							p.G1507V	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	44	4521	-			1507			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4520G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925156	0.73213	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-6.29	5.65	5.65	0.86999	.	0.000000	0.45867	D	0.000323	D	0.99813	0.9918	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97037	0.9754	10	0.87932	D	0	.	17.237	0.87001	0.0:1.0:0.0:0.0	.	1507	Q02388	CO7A1_HUMAN	V	1507	ENSP00000332371:G1507V;ENSP00000412569:G1507V	ENSP00000332371:G1507V	G	-	2	0	COL7A1	48595089	0.987000	0.35691	0.974000	0.42286	0.624000	0.37722	3.009000	0.49552	2.826000	0.97356	0.563000	0.77884	GGG		0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	Missense_Mutation	7	31	1	0	0.00198382	0.001984	0.00247684	7	31				
NCKIPSD	51517	broad.mit.edu	37	3	48718899	48718899	+	Missense_Mutation	SNP	C	C	T	rs542385660		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:48718899C>T	ENST00000294129.2	-	5	1032	c.913G>A	c.(913-915)Gag>Aag	p.E305K	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.E305K|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.E298K	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	305					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)	p.E305K(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCCGCCTCAGCTGCTGCC	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		19450	0.0		0.0	False		,,,				2504	0.001						uc003cun.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(913-915)GAG>AAG		NCK interacting protein with SH3 domain isoform							66.0	56.0	60.0					3																	48718899		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48718899C>T	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.913G>A	3.37:g.48718899C>T	ENSP00000294129:p.Glu305Lys					NCKIPSD_uc003cum.2_Missense_Mutation_p.E298K|NCKIPSD_uc010hkh.1_Missense_Mutation_p.E305K	p.E305K	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	5	1007	-			305					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.913G>A	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675184	0.14841	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000439518	T;T;T;T	0.46451	0.87;1.48;1.48;1.47	5.37	4.46	0.54185	.	1.013140	0.07936	U	0.978388	T	0.32585	0.0834	L	0.38175	1.15	0.09310	N	1	B;B;B	0.23442	0.085;0.011;0.019	B;B;B	0.14023	0.01;0.003;0.007	T	0.14309	-1.0477	10	0.10377	T	0.69	.	11.8336	0.52309	0.1367:0.7315:0.1318:0.0	.	305;305;298	C9JSC3;Q9NZQ3;Q9NZQ3-3	.;SPN90_HUMAN;.	K	305;298;305;305	ENSP00000342621:E305K;ENSP00000389059:E298K;ENSP00000294129:E305K;ENSP00000409675:E305K	ENSP00000294129:E305K	E	-	1	0	NCKIPSD	48693903	0.574000	0.26684	0.298000	0.25002	0.092000	0.18411	2.418000	0.44662	2.489000	0.83994	0.563000	0.77884	GAG		0.602	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		8	52	0	0	0	0.004482	0	8	52				
RBM6	10180	broad.mit.edu	37	3	50005024	50005024	+	Missense_Mutation	SNP	G	G	A	rs201632526		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:50005024G>A	ENST00000266022.4	+	3	425	c.166G>A	c.(166-168)Gat>Aat	p.D56N	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	56					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D56N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACTTCCCTTTGATTTCCAGGG	0.527																																							uc003cyc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(166-168)GAT>AAT		RNA binding motif protein 6							90.0	96.0	94.0					3																	50005024		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50005024G>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.166G>A	3.37:g.50005024G>A	ENSP00000266022:p.Asp56Asn					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron	p.D56N	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	3	299	+			56					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.166G>A	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.505660	0.64410	.	.	ENSG00000004534	ENST00000266022;ENST00000416583;ENST00000433811	T	0.48201	0.82	6.04	6.04	0.98038	.	0.128995	0.52532	D	0.000062	T	0.47563	0.1452	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.47302	-0.9128	9	.	.	.	-16.9848	15.993	0.80220	0.0:0.1337:0.8663:0.0	.	56	P78332	RBM6_HUMAN	N	56	ENSP00000266022:D56N	.	D	+	1	0	RBM6	49980028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.190000	0.58365	2.873000	0.98535	0.561000	0.74099	GAT		0.527	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		13	133	0	0	0	0.001855	0	13	133				
STAB1	23166	broad.mit.edu	37	3	52550187	52550187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:52550187C>A	ENST00000321725.6	+	38	4153	c.4077C>A	c.(4075-4077)caC>caA	p.H1359Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1359	Laminin EGF-like 1. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.H1359Q(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCACTGCCACGAGGGCTTCC	0.701																																							uc003dej.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(4075-4077)CAC>CAA		stabilin 1 precursor							36.0	32.0	34.0					3																	52550187		2202	4299	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52550187C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4077C>A	3.37:g.52550187C>A	ENSP00000312946:p.His1359Gln					STAB1_uc003dek.1_5'Flank	p.H1359Q	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	38	4151	+			1359			Laminin EGF-like 1.|Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4077C>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	5.317	0.243854	0.10077	.	.	ENSG00000010327	ENST00000321725	D	0.83673	-1.75	4.96	-9.91	0.00458	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.973352	0.08501	N	0.936444	T	0.51924	0.1703	N	0.05124	-0.11	0.18873	N	0.999983	B	0.09022	0.002	B	0.04013	0.001	T	0.45920	-0.9228	10	0.13108	T	0.6	.	1.6921	0.02854	0.195:0.1781:0.3417:0.2851	.	1359	Q9NY15	STAB1_HUMAN	Q	1359	ENSP00000312946:H1359Q	ENSP00000312946:H1359Q	H	+	3	2	STAB1	52525227	0.000000	0.05858	0.117000	0.21633	0.845000	0.48019	-4.024000	0.00311	-3.042000	0.00263	-1.598000	0.00824	CAC		0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		7	38	1	0	5.18039e-06	0.00308	7.1912e-06	7	38				
ARHGEF3	50650	broad.mit.edu	37	3	56771215	56771215	+	Missense_Mutation	SNP	C	C	A	rs374801140		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:56771215C>A	ENST00000296315.3	-	8	1207	c.1039G>T	c.(1039-1041)Gtg>Ttg	p.V347L	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.V379L|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.V353L|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.V353L|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.V347L|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.V318L	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	347	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V347L(2)|p.V379L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		CTACTTACCACGCCCCGATTG	0.473																																							uc003dig.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1039-1041)GTG>TTG		Rho guanine nucleotide exchange factor 3 isoform							118.0	110.0	112.0					3																	56771215		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56771215C>A	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.1039G>T	3.37:g.56771215C>A	ENSP00000296315:p.Val347Leu					ARHGEF3_uc011bew.1_Missense_Mutation_p.V347L|ARHGEF3_uc003dih.2_Missense_Mutation_p.V379L|ARHGEF3_uc011bev.1_Missense_Mutation_p.V318L|ARHGEF3_uc003dif.2_Missense_Mutation_p.V353L|ARHGEF3_uc010hmy.1_Missense_Mutation_p.V145L|ARHGEF3_uc003dii.2_Missense_Mutation_p.V347L	p.V347L	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	8	1208	-			347			PH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.1039G>T	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801126	0.31869	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.93	5.06	0.68205	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.337088	0.30667	N	0.009129	T	0.14227	0.0344	N	0.08118	0	0.41109	D	0.985728	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001;0.0;0.001	T	0.09509	-1.0671	10	0.09084	T	0.74	-12.8539	10.646	0.45621	0.0:0.7992:0.1319:0.0689	.	353;318;145;347;379;347;353	E9PG37;E7EU49;Q9NR81-4;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;.;ARHG3_HUMAN;.	L	347;379;353;353;318;347	ENSP00000296315:V347L;ENSP00000341071:V379L;ENSP00000410922:V353L;ENSP00000420420:V353L;ENSP00000418826:V318L;ENSP00000417986:V347L	ENSP00000296315:V347L	V	-	1	0	ARHGEF3	56746255	0.993000	0.37304	0.934000	0.37439	0.948000	0.59901	2.590000	0.46154	1.524000	0.49035	0.555000	0.69702	GTG		0.473	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		8	94	1	0	3.09899e-07	0.004482	4.56199e-07	8	94				
CNTN3	5067	broad.mit.edu	37	3	74334570	74334570	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:74334570C>A	ENST00000263665.6	-	19	2617	c.2590G>T	c.(2590-2592)Gcc>Tcc	p.A864S		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	864	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A864S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CGTAGTCTGGCTGATGTCTCA	0.547																																							uc003dpm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(2590-2592)GCC>TCC		contactin 3 precursor							177.0	154.0	162.0					3																	74334570		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74334570C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2590G>T	3.37:g.74334570C>A	ENSP00000263665:p.Ala864Ser						p.A864S	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	19	2670	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	864			Fibronectin type-III 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.2590G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274744	0.59649	.	.	ENSG00000113805	ENST00000263665	T	0.59083	0.29	5.28	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.266839	0.37761	N	0.001956	T	0.68897	0.3051	M	0.78049	2.395	0.25903	N	0.983326	P	0.41978	0.767	P	0.54431	0.752	T	0.63422	-0.6641	10	0.59425	D	0.04	.	8.5873	0.33666	0.0:0.7534:0.0:0.2466	.	864	Q9P232	CNTN3_HUMAN	S	864	ENSP00000263665:A864S	ENSP00000263665:A864S	A	-	1	0	CNTN3	74417260	0.005000	0.15991	0.111000	0.21465	0.648000	0.38561	0.522000	0.22909	1.346000	0.45694	0.655000	0.94253	GCC		0.547	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		20	167	1	0	1.87028e-06	0.001882	2.66042e-06	20	167				
CD86	942	broad.mit.edu	37	3	121825068	121825068	+	Missense_Mutation	SNP	G	G	A	rs200437316		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:121825068G>A	ENST00000330540.2	+	4	540	c.424G>A	c.(424-426)Gta>Ata	p.V142I	CD86_ENST00000493101.1_Missense_Mutation_p.V30I|CD86_ENST00000469710.1_Missense_Mutation_p.V60I|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.V136I	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	142					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.V142I(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	ACCTGAAATAGTACCAATTTC	0.338																																					GBM(67;1379 1389 36064 39806)	GBM(67;1379 1389 36064 39806)	uc003eet.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(424-426)GTA>ATA		CD86 antigen isoform 1	Abatacept(DB01281)						35.0	36.0	35.0					3																	121825068		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825068G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.424G>A	3.37:g.121825068G>A	ENSP00000332049:p.Val142Ile					CD86_uc011bjo.1_Missense_Mutation_p.V60I|CD86_uc011bjp.1_Missense_Mutation_p.V30I|CD86_uc003eeu.2_Missense_Mutation_p.V136I	p.V142I	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	540	+			142			Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.424G>A	CCDS3009.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.36|10.36	1.327349|1.327349	0.24080|0.24080	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000478741|ENST00000469710;ENST00000493101;ENST00000330540;ENST00000482356;ENST00000393627	.|T;T;T;T;T	.|0.14640	.|3.36;2.49;4.55;3.67;4.55	5.65|5.65	-1.15|-1.15	0.09709|0.09709	.|.	.|2.662760	.|0.00810	.|N	.|0.001484	T|T	0.13286|0.13286	0.0322|0.0322	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999994|0.999994	.|B;B	.|0.26635	.|0.005;0.155	.|B;B	.|0.27715	.|0.005;0.082	T|T	0.39623|0.39623	-0.9605|-0.9605	5|10	.|0.49607	.|T	.|0.09	14.4567|14.4567	10.8376|10.8376	0.46696|0.46696	0.8565:0.0:0.1435:0.0|0.8565:0.0:0.1435:0.0	.|.	.|30;142	.|E9PC27;P42081	.|.;CD86_HUMAN	N|I	137|60;30;142;136;136	.|ENSP00000418988:V60I;ENSP00000420230:V30I;ENSP00000332049:V142I;ENSP00000419116:V136I;ENSP00000377248:V136I	.|ENSP00000332049:V142I	S|V	+|+	2|1	0|0	CD86|CD86	123307758|123307758	0.008000|0.008000	0.16893|0.16893	0.009000|0.009000	0.14445|0.14445	0.024000|0.024000	0.10985|0.10985	-0.013000|-0.013000	0.12678|0.12678	-0.324000|-0.324000	0.08589|0.08589	-0.345000|-0.345000	0.07892|0.07892	AGT|GTA		0.338	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		8	33	0	0	0	0.00308	0	8	33				
KALRN	8997	broad.mit.edu	37	3	124201673	124201673	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:124201673G>A	ENST00000240874.3	+	28	4361	c.4204G>A	c.(4204-4206)Ggt>Agt	p.G1402S	KALRN_ENST00000360013.3_Missense_Mutation_p.G1402S|KALRN_ENST00000460856.1_Missense_Mutation_p.G1393S	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1402	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G1402S(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACAGCGGCATGGTCTGGCCAA	0.512																																							uc003ehg.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(4204-4206)GGT>AGT		kalirin, RhoGEF kinase isoform 1							239.0	192.0	208.0					3																	124201673		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124201673G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4204G>A	3.37:g.124201673G>A	ENSP00000240874:p.Gly1402Ser					KALRN_uc010hrv.1_Missense_Mutation_p.G1393S|KALRN_uc003ehf.1_Missense_Mutation_p.G1402S|KALRN_uc011bjy.1_Missense_Mutation_p.G1393S|KALRN_uc003ehh.1_Missense_Mutation_p.G748S	p.G1402S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			28	4331	+			1402			DH 1.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.4204G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.56|14.56	2.571759|2.571759	0.45798|0.45798	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.28666|.	1.6;1.6;1.6|.	5.31|5.31	4.43|4.43	0.53597|0.53597	Dbl homology (DH) domain (5);|.	0.059751|.	0.64402|.	D|.	0.000003|.	T|T	0.67636|0.67636	0.2914|0.2914	L|L	0.49455|0.49455	1.56|1.56	0.80722|0.80722	D|D	1|1	B;B;D;B|.	0.67145|.	0.012;0.013;0.996;0.01|.	B;B;D;B|.	0.79784|.	0.048;0.153;0.993;0.035|.	T|T	0.65948|0.65948	-0.6044|-0.6044	10|5	0.35671|.	T|.	0.21|.	.|.	16.1201|16.1201	0.81346|0.81346	0.0:0.1338:0.8662:0.0|0.0:0.1338:0.8662:0.0	.|.	1393;748;1402;1402|.	C9IZQ6;F2Z3Q6;O60229;O60229-2|.	.;.;KALRN_HUMAN;.|.	S|I	1393;1402;1402|1370	ENSP00000418611:G1393S;ENSP00000240874:G1402S;ENSP00000353109:G1402S|.	ENSP00000240874:G1402S|.	G|M	+|+	1|3	0|0	KALRN|KALRN	125684363|125684363	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.625000|0.625000	0.37756|0.37756	5.514000|5.514000	0.67043|0.67043	1.456000|1.456000	0.47831|0.47831	-0.176000|-0.176000	0.13171|0.13171	GGT|ATG		0.512	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		23	117	0	0	0	0.00278	0	23	117				
GRK7	131890	broad.mit.edu	37	3	141535733	141535733	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:141535733T>C	ENST00000264952.2	+	4	1640	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	501	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.D501D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ATGACAAAGATAAGCAGTTCT	0.443																																							uc011bnd.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1501-1503)GAT>GAC		G-protein-coupled receptor kinase 7 precursor							156.0	153.0	154.0					3																	141535733		2203	4300	6503	SO:0001819	synonymous_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535733T>C		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1503T>C	3.37:g.141535733T>C							p.D501D	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			4	1587	+			501			AGC-kinase C-terminal.			Silent	SNP	ENST00000264952.2	37	c.1503T>C	CCDS3120.1																																																																																				0.443	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		27	152	0	0	0	0.007291	0	27	152				
TNIK	23043	broad.mit.edu	37	3	170819320	170819320	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:170819320C>T	ENST00000436636.2	-	22	2853	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	TNIK_ENST00000341852.6_Missense_Mutation_p.E753K|TNIK_ENST00000460047.1_Missense_Mutation_p.E774K|TNIK_ENST00000488470.1_Missense_Mutation_p.E782K|TNIK_ENST00000369326.5_Missense_Mutation_p.E815K|TNIK_ENST00000475336.1_Missense_Mutation_p.E745K|TNIK_ENST00000284483.8_Missense_Mutation_p.E829K|TNIK_ENST00000470834.1_Missense_Mutation_p.E800K|TNIK_ENST00000357327.5_Missense_Mutation_p.E808K|TNIK_ENST00000538048.1_Missense_Mutation_p.E789K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	837	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E837K(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCGCTACTTTCTGACTCCTCA	0.483																																							uc003fhh.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(2509-2511)GAA>AAA		TRAF2 and NCK interacting kinase isoform 1							274.0	272.0	273.0					3																	170819320		2091	4243	6334	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170819320C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2509G>A	3.37:g.170819320C>T	ENSP00000399511:p.Glu837Lys					TNIK_uc003fhi.2_Missense_Mutation_p.E782K|TNIK_uc003fhj.2_Missense_Mutation_p.E808K|TNIK_uc003fhk.2_Missense_Mutation_p.E829K|TNIK_uc003fhl.2_Missense_Mutation_p.E753K|TNIK_uc003fhm.2_Missense_Mutation_p.E774K|TNIK_uc003fhn.2_Missense_Mutation_p.E800K|TNIK_uc003fho.2_Missense_Mutation_p.E745K|TNIK_uc003fhg.2_Missense_Mutation_p.E15K	p.E837K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		22	2854	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		837			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2509G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765845	0.69878	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	6.02	6.02	0.97574	.	0.260739	0.44285	D	0.000474	T	0.79323	0.4426	L	0.43152	1.355	0.58432	D	0.999998	B;D;B;B;D;D;B;D	0.58620	0.13;0.963;0.13;0.13;0.983;0.963;0.13;0.972	B;P;B;B;P;P;B;P	0.58454	0.055;0.775;0.055;0.055;0.839;0.775;0.055;0.694	T	0.71361	-0.4616	10	0.13470	T	0.59	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	745;800;774;753;829;808;782;837	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	K	837;815;789;753;829;745;808;774;782;800	ENSP00000399511:E837K;ENSP00000358332:E815K;ENSP00000443278:E789K;ENSP00000345352:E753K;ENSP00000284483:E829K;ENSP00000418156:E745K;ENSP00000349880:E808K;ENSP00000418916:E774K;ENSP00000418378:E782K;ENSP00000419990:E800K	ENSP00000284483:E829K	E	-	1	0	TNIK	172302014	0.992000	0.36948	0.938000	0.37757	0.661000	0.39034	2.914000	0.48797	2.857000	0.98124	0.650000	0.86243	GAA		0.483	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		29	295	0	0	0	0.00632	0	29	295				
ZMAT3	64393	broad.mit.edu	37	3	178785371	178785371	+	Missense_Mutation	SNP	C	C	A	rs561576526	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:178785371C>A	ENST00000311417.2	-	2	911	c.170G>T	c.(169-171)gGg>gTg	p.G57V	ZMAT3_ENST00000432729.1_Missense_Mutation_p.G57V	NM_022470.3	NP_071915.1			zinc finger, matrin-type 3									p.G57V(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTCTTGCTCCCCTCCCTTCGA	0.547																																							uc003fjg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(169-171)GGG>GTG		p53 target zinc finger protein isoform 1							134.0	126.0	129.0					3																	178785371		2203	4300	6503	SO:0001583	missense	64393				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	g.chr3:178785371C>A	AK122768	CCDS3224.1, CCDS46962.1	3q26.32	2012-10-05	2010-09-15		ENSG00000172667	ENSG00000172667		"""Zinc fingers, matrin-type"""	29983	protein-coding gene	gene with protein product		606452				9400996, 11689294	Standard	NM_022470		Approved	WIG1, MGC10613, FLJ12296, WIG-1, PAG608	uc003fjg.3	Q9HA38	OTTHUMG00000157290	ENST00000311417.2:c.170G>T	3.37:g.178785371C>A	ENSP00000311221:p.Gly57Val					ZMAT3_uc010hxa.2_Missense_Mutation_p.G57V|ZMAT3_uc003fji.2_Missense_Mutation_p.G57V	p.G57V	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)		2	429	-	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		57						Missense_Mutation	SNP	ENST00000311417.2	37	c.170G>T	CCDS3224.1	.	.	.	.	.	.	.	.	.	.	C	3.160	-0.172244	0.06421	.	.	ENSG00000172667	ENST00000311417;ENST00000432729;ENST00000414084	T;T;T	0.45276	0.9;0.9;0.9	5.86	3.9	0.45041	.	0.402874	0.27126	N	0.020816	T	0.21509	0.0518	N	0.08118	0	0.54753	D	0.999985	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.06481	-1.0824	10	0.13853	T	0.58	-49.5163	13.1498	0.59482	0.3383:0.6617:0.0:0.0	.	57;57	Q9HA38-2;Q9HA38	.;ZMAT3_HUMAN	V	57	ENSP00000311221:G57V;ENSP00000396506:G57V;ENSP00000398920:G57V	ENSP00000311221:G57V	G	-	2	0	ZMAT3	180268065	1.000000	0.71417	0.987000	0.45799	0.220000	0.24768	1.701000	0.37825	2.771000	0.95319	0.563000	0.77884	GGG		0.547	ZMAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348336.2	NM_152240		29	116	1	0	4.87955e-14	0.005443	8.19299e-14	29	116				
KLHL6	89857	broad.mit.edu	37	3	183211915	183211915	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:183211915T>A	ENST00000341319.3	-	5	1337	c.1302A>T	c.(1300-1302)agA>agT	p.R434S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	434					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.R434S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CATTGTTGATTCTCTGTAAGC	0.463																																							uc003flr.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1300-1302)AGA>AGT		kelch-like 6							255.0	237.0	243.0					3																	183211915		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183211915T>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1302A>T	3.37:g.183211915T>A	ENSP00000341342:p.Arg434Ser					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.R434S	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		5	1360	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		434			Kelch 3.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1302A>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173827	0.78452	.	.	ENSG00000172578	ENST00000341319	T	0.76709	-1.04	5.96	-1.2	0.09554	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.73682	0.3618	L	0.32530	0.975	0.47905	D	0.999547	D	0.89917	1.0	D	0.91635	0.999	T	0.68895	-0.5288	10	0.13108	T	0.6	.	5.1748	0.15129	0.0:0.2055:0.2993:0.4952	.	434	Q8WZ60	KLHL6_HUMAN	S	434	ENSP00000341342:R434S	ENSP00000341342:R434S	R	-	3	2	KLHL6	184694609	0.648000	0.27313	0.995000	0.50966	0.974000	0.67602	-0.162000	0.10012	-0.110000	0.12022	-0.242000	0.12053	AGA		0.463	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		25	215	0	0	0	0.005443	0	25	215				
TP63	8626	broad.mit.edu	37	3	189612133	189612133	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:189612133G>T	ENST00000264731.3	+	14	1974	c.1885G>T	c.(1885-1887)Ggc>Tgc	p.G629C	TP63_ENST00000440651.2_Missense_Mutation_p.G625C|TP63_ENST00000449992.1_Missense_Mutation_p.G450C|TP63_ENST00000456148.1_Missense_Mutation_p.G531C|TP63_ENST00000354600.5_Missense_Mutation_p.G535C|TP63_ENST00000382063.4_Missense_Mutation_p.G544C|TP63_ENST00000320472.5_3'UTR	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	629	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)	p.G629C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTCAGTGTGGGCTCCAGTGA	0.582										HNSCC(45;0.13)																													uc003fry.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(1885-1887)GGC>TGC		tumor protein p63 isoform 1							114.0	110.0	111.0					3																	189612133		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189612133G>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1885G>T	3.37:g.189612133G>T	ENSP00000264731:p.Gly629Cys	HNSCC(45;0.13)				TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.G535C|TP63_uc003fsd.2_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.G450C	p.G629C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	14	1974	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		629			Transactivation inhibition.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1885G>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738181	0.89573	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.95066	0.8402	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73708	0.981;0.976;0.971	D	0.93964	0.7243	9	.	.	.	-19.9085	19.2671	0.93993	0.0:0.0:1.0:0.0	.	450;535;629	Q9H3D4-10;Q9H3D4-2;Q9H3D4	.;.;P63_HUMAN	C	629;625;544;535;450;531	ENSP00000264731:G629C;ENSP00000394337:G625C;ENSP00000371495:G544C;ENSP00000346614:G535C;ENSP00000387839:G450C;ENSP00000389485:G531C	.	G	+	1	0	TP63	191094827	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.176000	0.94839	2.788000	0.95919	0.650000	0.86243	GGC		0.582	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		18	91	1	0	1.33834e-09	0.007413	2.09695e-09	18	91				
UTS2B	257313	broad.mit.edu	37	3	190993124	190993124	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:190993124A>G	ENST00000340524.5	-	8	1037	c.251T>C	c.(250-252)cTa>cCa	p.L84P	UTS2B_ENST00000427544.2_Missense_Mutation_p.L84P	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	84					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)		p.L84P(1)									CTGTTCTTTTAGCTTTTCCAG	0.418																																							uc003fsu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CTA>CCA		urotensin 2 domain containing precursor							145.0	141.0	142.0					3																	190993124		2203	4300	6503	SO:0001583	missense	257313					extracellular region	hormone activity	g.chr3:190993124A>G	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.251T>C	3.37:g.190993124A>G	ENSP00000340526:p.Leu84Pro						p.L84P	NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)	8	1038	-	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		84					B3KQY8|D3DNW1|Q2M1Z2	Missense_Mutation	SNP	ENST00000340524.5	37	c.251T>C	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508053	0.27036	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	T;T	0.61392	0.11;0.11	4.41	4.41	0.53225	.	0.172777	0.27245	N	0.020260	T	0.70474	0.3228	M	0.61703	1.905	0.31805	N	0.627847	D	0.89917	1.0	D	0.85130	0.997	T	0.75348	-0.3349	10	0.87932	D	0	-4.4513	9.9805	0.41811	1.0:0.0:0.0:0.0	.	84	Q765I0	UTS2B_HUMAN	P	84	ENSP00000340526:L84P;ENSP00000398761:L84P	ENSP00000340526:L84P	L	-	2	0	UTS2D	192475818	0.429000	0.25530	0.051000	0.19133	0.116000	0.19942	4.114000	0.57858	1.847000	0.53656	0.383000	0.25322	CTA		0.418	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		20	101	0	0	0	0.001523	0	20	101				
GP5	2814	broad.mit.edu	37	3	194118856	194118856	+	Silent	SNP	G	G	C	rs560286404	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:194118856G>C	ENST00000401815.1	-	1	227	c.156C>G	c.(154-156)ctC>ctG	p.L52L	GP5_ENST00000323007.3_Silent_p.L52L			P40197	GPV_HUMAN	glycoprotein V (platelet)	52					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L52L(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGATGTGCGTGAGGTTGGTGG	0.677																																							uc003ftv.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|breast(1)	3						c.(154-156)CTC>CTG		glycoprotein V (platelet) precursor							44.0	44.0	44.0					3																	194118856		2196	4288	6484	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118856G>C	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.156C>G	3.37:g.194118856G>C							p.L52L	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	187	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	52			Extracellular (Potential).		D1MER9	Silent	SNP	ENST00000401815.1	37	c.156C>G	CCDS3307.1																																																																																				0.677	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		12	70	0	0	0	0.001368	0	12	70				
TLR1	7096	broad.mit.edu	37	4	38799759	38799759	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:38799759A>G	ENST00000502213.2	-	3	923	c.694T>C	c.(694-696)Tac>Cac	p.Y232H	TLR1_ENST00000308979.2_Missense_Mutation_p.Y232H			Q15399	TLR1_HUMAN	toll-like receptor 1	232					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y232H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CTTAGGAAGTAAGAACATTTG	0.313																																					GBM(5;216 373 40795 46382)	GBM(5;216 373 40795 46382)	uc003gtl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(694-696)TAC>CAC		toll-like receptor 1 precursor							63.0	68.0	67.0					4																	38799759		2203	4299	6502	SO:0001583	missense	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38799759A>G	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.694T>C	4.37:g.38799759A>G	ENSP00000421259:p.Tyr232His						p.Y232H	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	968	-			232			Extracellular (Potential).		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	c.694T>C	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	A	7.910	0.736357	0.15574	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	T;T	0.01871	4.59;4.59	4.69	-1.02	0.10135	.	0.961855	0.08504	N	0.935913	T	0.01765	0.0056	L	0.41027	1.25	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.50625	-0.8806	10	0.18276	T	0.48	.	0.2745	0.00236	0.2388:0.2505:0.1646:0.346	.	232	Q15399	TLR1_HUMAN	H	232	ENSP00000354932:Y232H;ENSP00000421259:Y232H	ENSP00000354932:Y232H	Y	-	1	0	TLR1	38476154	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.577000	0.05847	0.044000	0.15775	-0.331000	0.08364	TAC		0.313	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			4	60	0	0	0	0.000248	0	4	60				
FAM114A1	92689	broad.mit.edu	37	4	38893400	38893400	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:38893400G>T	ENST00000358869.2	+	4	561	c.385G>T	c.(385-387)Ggc>Tgc	p.G129C	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	129						cytoplasm (GO:0005737)		p.G129C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGGATGGGCAGGCTGGGGATC	0.463																																							uc003gtn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(385-387)GGC>TGC		hypothetical protein LOC92689							110.0	108.0	109.0					4																	38893400		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38893400G>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.385G>T	4.37:g.38893400G>T	ENSP00000351740:p.Gly129Cys					FAM114A1_uc011byh.1_Translation_Start_Site	p.G129C	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			4	561	+			129					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.385G>T	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559895	0.65538	.	.	ENSG00000197712	ENST00000510213;ENST00000358869	T;T	0.44083	1.44;0.93	5.96	5.13	0.70059	.	0.227351	0.45361	D	0.000361	T	0.56673	0.2001	L	0.56769	1.78	0.31930	N	0.612363	D	0.89917	1.0	D	0.76071	0.987	T	0.64799	-0.6322	10	0.46703	T	0.11	-16.4216	9.1128	0.36739	0.1636:0.0:0.8364:0.0	.	129	Q8IWE2	NXP20_HUMAN	C	129	ENSP00000422965:G129C;ENSP00000351740:G129C	ENSP00000351740:G129C	G	+	1	0	FAM114A1	38569795	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.916000	0.48813	1.538000	0.49270	0.650000	0.86243	GGC		0.463	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		18	61	1	0	3.41278e-10	0.00499	5.41426e-10	18	61				
LRRC66	339977	broad.mit.edu	37	4	52861433	52861433	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:52861433T>A	ENST00000343457.3	-	4	1761	c.1755A>T	c.(1753-1755)acA>acT	p.T585T		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	585						integral component of membrane (GO:0016021)		p.T585T(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAGGGAAGCTGTTATTTCTC	0.507																																							uc003gzi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1753-1755)ACA>ACT		leucine rich repeat containing 66							101.0	106.0	104.0					4																	52861433		2095	4261	6356	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861433T>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1755A>T	4.37:g.52861433T>A							p.T585T	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1768	-			585						Silent	SNP	ENST00000343457.3	37	c.1755A>T	CCDS43229.1																																																																																				0.507	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		12	181	0	0	0	0.001368	0	12	181				
KIAA1211	57482	broad.mit.edu	37	4	57182101	57182101	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:57182101G>T	ENST00000504228.1	+	6	2538	c.2433G>T	c.(2431-2433)gtG>gtT	p.V811V	KIAA1211_ENST00000541073.1_Silent_p.V804V|KIAA1211_ENST00000264229.6_Silent_p.V811V			Q6ZU35	K1211_HUMAN	KIAA1211	811								p.V811V(1)		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)					AGAAAGTGGTGGCCCACACAG	0.582																																							uc003hbk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2431-2433)GTG>GTT		hypothetical protein LOC57482							85.0	92.0	89.0					4																	57182101		2042	4203	6245	SO:0001819	synonymous_variant	57482							g.chr4:57182101G>T	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.2433G>T	4.37:g.57182101G>T						KIAA1211_uc010iha.2_Silent_p.V804V|KIAA1211_uc011bzz.1_Silent_p.V721V|KIAA1211_uc003hbm.1_Silent_p.V697V	p.V811V	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	2824	+	Glioma(25;0.08)|all_neural(26;0.101)		811					Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	ENST00000504228.1	37	c.2433G>T	CCDS43230.1																																																																																				0.582	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		7	48	1	0	8.12818e-05	0.001984	0.000106968	7	48				
UGT2B7	7364	broad.mit.edu	37	4	69962775	69962775	+	Silent	SNP	T	T	A	rs372601149		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:69962775T>A	ENST00000508661.1	+	1	564	c.537T>A	c.(535-537)acT>acA	p.T179T	UGT2B7_ENST00000305231.7_Silent_p.T179T|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	179					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.T179T(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTGGCTACACTTTTGAAAAGC	0.403																																							uc003heg.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(535-537)ACT>ACA		UDP glucuronosyltransferase 2B7 precursor		T		0,4406		0,0,2203	125.0	124.0	125.0		537	-5.1	0.0	4		125	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	UGT2B7	NM_001074.2		0,1,6500	AA,AT,TT		0.0116,0.0,0.0077		179/530	69962775	1,13001	2203	4298	6501	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962775T>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.537T>A	4.37:g.69962775T>A						UGT2B7_uc010ihq.2_Silent_p.T179T	p.T179T	NM_001074	NP_001065	P16662	UD2B7_HUMAN			1	583	+			179					B2R810|Q6GTW0	Silent	SNP	ENST00000508661.1	37	c.537T>A																																																																																					0.403	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		37	149	0	0	0	0.004289	0	37	149				
ODAM	54959	broad.mit.edu	37	4	71062448	71062448	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:71062448G>A	ENST00000396094.2	+	2	139	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	31					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)		p.E31K(1)|p.E31*(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CAATAGCAATGAGGTTAGTTT	0.323																																							uc003hfc.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		large_intestine(1)|lung(1)	ovary(3)|large_intestine(1)	4						c.(91-93)GAG>AAG		odontogenic ameloblast-associated protein							56.0	51.0	52.0					4																	71062448		1818	4080	5898	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71062448G>A	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.91G>A	4.37:g.71062448G>A	ENSP00000379401:p.Glu31Lys						p.E31K	NM_017855	NP_060325	A1E959	ODAM_HUMAN			2	108	+			31					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.91G>A	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749353	0.69533	.	.	ENSG00000109205	ENST00000396094	T	0.64260	-0.09	5.39	5.39	0.77823	.	.	.	.	.	T	0.75583	0.3869	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76919	-0.2781	9	0.87932	D	0	-12.0321	14.5147	0.67811	0.0:0.0:1.0:0.0	.	31	A1E959	ODAM_HUMAN	K	31	ENSP00000379401:E31K	ENSP00000379401:E31K	E	+	1	0	ODAM	71097037	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	4.235000	0.58666	2.804000	0.96469	0.650000	0.86243	GAG		0.323	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855		4	36	0	0	0	0.000602	0	4	36				
CCDC158	339965	broad.mit.edu	37	4	77300479	77300479	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:77300479A>G	ENST00000388914.3	-	8	1145	c.993T>C	c.(991-993)tcT>tcC	p.S331S	CCDC158_ENST00000434846.2_Silent_p.S331S	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	331								p.S331S(1)		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						CCCTTAATTCAGAACGTAGCT	0.383																																							uc003hkb.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)	6						c.(991-993)TCT>TCC		coiled-coil domain containing 158							144.0	134.0	137.0					4																	77300479		1894	4110	6004	SO:0001819	synonymous_variant	339965							g.chr4:77300479A>G	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.993T>C	4.37:g.77300479A>G						CCDC158_uc003hkd.2_Silent_p.S331S	p.S331S	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			8	1146	-			331			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.993T>C	CCDS43242.1																																																																																				0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		3	81	0	0	0	0.000602	0	3	81				
SEC31A	22872	broad.mit.edu	37	4	83791564	83791564	+	Missense_Mutation	SNP	T	T	C	rs372190327		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:83791564T>C	ENST00000395310.2	-	8	978	c.796A>G	c.(796-798)Att>Gtt	p.I266V	SEC31A_ENST00000355196.2_Missense_Mutation_p.I266V|SEC31A_ENST00000448323.1_Missense_Mutation_p.I266V|SEC31A_ENST00000264405.5_Missense_Mutation_p.I38V|SEC31A_ENST00000443462.2_Missense_Mutation_p.I261V|SEC31A_ENST00000508502.1_Missense_Mutation_p.I266V|SEC31A_ENST00000513858.1_Missense_Mutation_p.I266V|SEC31A_ENST00000509142.1_Missense_Mutation_p.I266V|SEC31A_ENST00000326950.5_Missense_Mutation_p.I266V|SEC31A_ENST00000508479.1_Missense_Mutation_p.I266V|SEC31A_ENST00000432794.1_Missense_Mutation_p.I266V|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Missense_Mutation_p.I266V|SEC31A_ENST00000505472.1_Missense_Mutation_p.I266V|SEC31A_ENST00000311785.7_Missense_Mutation_p.I266V|SEC31A_ENST00000348405.4_Missense_Mutation_p.I266V|SEC31A_ENST00000500777.2_Missense_Mutation_p.I266V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	266	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I266V(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTCCAAGCAATTGCCAAAATC	0.388																																							uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(796-798)ATT>GTT		SEC31 homolog A isoform 1		T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	127.0	117.0	121.0		796,796,781,796,796,796	2.5	1.0	4		121	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	SEC31A	NM_016211.3,NM_014933.3,NM_001191049.1,NM_001077208.2,NM_001077207.2,NM_001077206.2	29,29,29,29,29,29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	266/1182,266/1221,261/1201,266/1206,266/1221,266/1107	83791564	1,13005	2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83791564T>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.796A>G	4.37:g.83791564T>C	ENSP00000378721:p.Ile266Val					SEC31A_uc003hne.2_Missense_Mutation_p.I38V|SEC31A_uc011ccl.1_Missense_Mutation_p.I266V|SEC31A_uc003hnl.2_Missense_Mutation_p.I266V|SEC31A_uc003hng.2_Missense_Mutation_p.I266V|SEC31A_uc003hnh.2_Missense_Mutation_p.I266V|SEC31A_uc003hni.2_Missense_Mutation_p.I266V|SEC31A_uc003hnj.2_Missense_Mutation_p.I266V|SEC31A_uc011ccm.1_Missense_Mutation_p.I261V|SEC31A_uc011ccn.1_Missense_Mutation_p.I266V|SEC31A_uc003hnk.2_Missense_Mutation_p.I266V|SEC31A_uc003hnm.2_Missense_Mutation_p.I266V|SEC31A_uc003hnn.1_Missense_Mutation_p.I266V|SEC31A_uc003hno.2_Missense_Mutation_p.I266V	p.I266V	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			8	960	-		Hepatocellular(203;0.114)	266			Interaction with SEC13.|WD 5.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.796A>G	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	T	6.733	0.503925	0.12822	2.27E-4	0.0	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65178	1.63;1.63;1.63;1.67;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;-0.14;1.63;1.63	5.08	2.55	0.30701	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.102069	0.64402	N	0.000004	T	0.55417	0.1919	N	0.10809	0.05	0.52099	D	0.999945	B;B;P;B;B;B;B;B;B;B	0.51791	0.001;0.0;0.948;0.001;0.001;0.0;0.014;0.001;0.0;0.008	B;B;D;B;B;B;B;B;B;B	0.67103	0.026;0.003;0.949;0.012;0.005;0.001;0.016;0.005;0.002;0.045	T	0.46345	-0.9198	10	0.17832	T	0.49	-8.1851	9.5848	0.39510	0.0:0.146:0.0:0.854	.	261;266;266;266;266;266;266;266;266;38	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;.;SC31A_HUMAN;.	V	266;266;266;261;266;266;266;266;266;266;266;266;266;38;266;266	ENSP00000337602:I266V;ENSP00000426886:I266V;ENSP00000378721:I266V;ENSP00000408027:I261V;ENSP00000426569:I266V;ENSP00000407944:I266V;ENSP00000400926:I266V;ENSP00000325087:I266V;ENSP00000309070:I266V;ENSP00000421633:I266V;ENSP00000421464:I266V;ENSP00000424635:I266V;ENSP00000347329:I266V;ENSP00000264405:I38V;ENSP00000424451:I266V;ENSP00000425999:I266V	ENSP00000264405:I38V	I	-	1	0	SEC31A	84010588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.272000	0.51616	0.322000	0.23283	0.454000	0.30748	ATT		0.388	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		7	118	0	0	0	0.00308	0	7	118				
GRID2	2895	broad.mit.edu	37	4	94690553	94690553	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:94690553G>A	ENST00000282020.4	+	15	2811	c.2553G>A	c.(2551-2553)ctG>ctA	p.L851L	GRID2_ENST00000510992.1_Silent_p.L756L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	851					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.L851L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TAGCCATGCTGGAGACGTGGT	0.483																																							uc011cdt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(2551-2553)CTG>CTA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						89.0	96.0	94.0					4																	94690553		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94690553G>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2553G>A	4.37:g.94690553G>A						GRID2_uc011cdu.1_Silent_p.L756L	p.L851L	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	15	2811	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	851			Helical; (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2553G>A	CCDS3637.1																																																																																				0.483	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			12	83	0	0	0	0.001368	0	12	83				
SGMS2	166929	broad.mit.edu	37	4	108817064	108817064	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:108817064G>T	ENST00000394684.4	+	3	912	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.D119Y|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000359079.4_Missense_Mutation_p.D119Y	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	119					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)	Golgi apparatus (GO:0005794)|integral component of cell outer membrane (GO:0045203)|integral component of Golgi membrane (GO:0030173)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ceramide cholinephosphotransferase activity (GO:0047493)|kinase activity (GO:0016301)|sphingomyelin synthase activity (GO:0033188)	p.D119Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)		CAAGTTTTTTGATTACATTGA	0.423																																							uc003hyl.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(355-357)GAT>TAT		sphingomyelin synthase 2	Choline(DB00122)						86.0	93.0	90.0					4																	108817064		2203	4300	6503	SO:0001583	missense	166929				sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	g.chr4:108817064G>T	BC041369	CCDS3677.1	4q25	2008-02-05			ENSG00000164023	ENSG00000164023	2.7.8.27		28395	protein-coding gene	gene with protein product		611574				14685263	Standard	NM_152621		Approved	MGC26963, SMS2	uc003hyl.4	Q8NHU3	OTTHUMG00000131811	ENST00000394684.4:c.355G>T	4.37:g.108817064G>T	ENSP00000378176:p.Asp119Tyr					uc003hym.1_Intron|SGMS2_uc003hyn.2_Missense_Mutation_p.D119Y|SGMS2_uc003hyo.2_Missense_Mutation_p.D119Y	p.D119Y	NM_001136258	NP_001129730	Q8NHU3	SMS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	3	910	+			119					A8K2S9|B2RA61	Missense_Mutation	SNP	ENST00000394684.4	37	c.355G>T	CCDS3677.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694126	0.88735	.	.	ENSG00000164023	ENST00000394684;ENST00000359079;ENST00000394686	T;T;T	0.52754	0.65;0.65;0.65	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72421	-0.4299	9	.	.	.	-21.5452	19.7404	0.96228	0.0:0.0:1.0:0.0	.	119	Q8NHU3	SMS2_HUMAN	Y	119	ENSP00000378176:D119Y;ENSP00000351981:D119Y;ENSP00000378178:D119Y	.	D	+	1	0	SGMS2	109036513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.420000	0.97426	2.734000	0.93682	0.655000	0.94253	GAT		0.423	SGMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254752.1	NM_152621		9	79	1	0	0.000274275	0.004482	0.000355043	9	79				
METTL14	57721	broad.mit.edu	37	4	119631390	119631390	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:119631390G>A	ENST00000388822.5	+	11	1471	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q	METTL14_ENST00000506780.1_Missense_Mutation_p.R397Q			Q9HCE5	MET14_HUMAN	methyltransferase like 14	435	Gly-rich.				mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.R435Q(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TCTAACTTCCGAGGAGAAAGA	0.517																																							uc003icf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)CGA>CAA		methyltransferase like 14							50.0	53.0	52.0					4																	119631390		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119631390G>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.1304G>A	4.37:g.119631390G>A	ENSP00000373474:p.Arg435Gln					METTL14_uc003icg.2_Missense_Mutation_p.R397Q	p.R435Q	NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN			11	1420	+			435			Gly-rich.		A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.1304G>A	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594763	0.86953	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	N	0.24115	0.695	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.64042	0.921;0.921	T	0.67818	-0.5572	9	0.62326	D	0.03	-5.0214	19.69	0.95996	0.0:0.0:1.0:0.0	.	397;435	D6RBL4;Q9HCE5	.;MTL14_HUMAN	Q	435;397	.	ENSP00000373474:R435Q	R	+	2	0	METTL14	119850838	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.323000	0.96364	2.648000	0.89879	0.650000	0.86243	CGA		0.517	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		4	53	0	0	0	0.000602	0	4	53				
KIAA1109	84162	broad.mit.edu	37	4	123234842	123234842	+	Splice_Site	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:123234842G>T	ENST00000264501.4	+	60	10685	c.10312G>T	c.(10312-10314)Gaa>Taa	p.E3438*	KIAA1109_ENST00000388738.3_Splice_Site_p.E3438*|KIAA1109_ENST00000455637.1_Splice_Site_p.E3438*			Q2LD37	K1109_HUMAN	KIAA1109	3438					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.E3438*(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCAGCAGCTGGTAGGTTCAC	0.353																																							uc003ieh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10312-10314)GAA>TAA		fragile site-associated protein							110.0	104.0	106.0					4																	123234842		1846	4104	5950	SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123234842G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10312+1G>T	4.37:g.123234842G>T						KIAA1109_uc003iel.1_Nonsense_Mutation_p.E1373*	p.E3438*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			58	10357	+			3438					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Nonsense_Mutation	SNP	ENST00000264501.4	37	c.10312G>T	CCDS43267.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	26.6|26.6|26.6	4.751189|4.751189|4.751189	0.89753|0.89753|0.89753	.|.|.	.|.|.	ENSG00000138688|ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707|ENST00000421930|ENST00000419325	.|.|.	.|.|.	.|.|.	5.48|5.48|5.48	5.48|5.48|5.48	0.80851|0.80851|0.80851	.|.|.	0.067877|.|.	0.56097|.|.	U|.|.	0.000027|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	0.02654|.|.	T|.|.	1|.|.	.|.|.	19.3512|19.3512|19.3512	0.94387|0.94387|0.94387	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|X|L	3438;3438;3438;54|54|1395	.|.|.	ENSP00000264501:E3438X|.|.	E|G|X	+|+|+	1|1|2	0|0|2	KIAA1109|KIAA1109|KIAA1109	123454292|123454292|123454292	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.886000|0.886000|0.886000	0.51366|0.51366|0.51366	9.050000|9.050000|9.050000	0.93843|0.93843|0.93843	2.566000|2.566000|2.566000	0.86566|0.86566|0.86566	0.460000|0.460000|0.460000	0.39030|0.39030|0.39030	GAA|GGA|TGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Nonsense_Mutation	13	75	1	0	7.93312e-07	0.00245	1.14129e-06	13	75				
FAT4	79633	broad.mit.edu	37	4	126242685	126242685	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:126242685G>T	ENST00000394329.3	+	1	5132	c.5119G>T	c.(5119-5121)Gtg>Ttg	p.V1707L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1707	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1707L(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTTTACCTGGTGGATGTTTA	0.398																																							uc003ifj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(5119-5121)GTG>TTG		FAT tumor suppressor homolog 4 precursor							79.0	75.0	76.0					4																	126242685		1889	4123	6012	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242685G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5119G>T	4.37:g.126242685G>T	ENSP00000377862:p.Val1707Leu						p.V1707L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	5119	+			1707			Cadherin 16.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5119G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107099	0.37145	.	.	ENSG00000196159	ENST00000394329	T	0.23348	1.91	5.27	5.27	0.74061	Cadherin (3);Cadherin-like (1);	0.000000	0.31233	U	0.008019	T	0.10078	0.0247	N	0.01535	-0.81	0.80722	D	1	B	0.29716	0.255	B	0.29598	0.104	T	0.19910	-1.0291	10	0.02654	T	1	.	18.9064	0.92464	0.0:0.0:1.0:0.0	.	1707	Q6V0I7	FAT4_HUMAN	L	1707	ENSP00000377862:V1707L	ENSP00000377862:V1707L	V	+	1	0	FAT4	126462135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.379000	0.52440	2.466000	0.83321	0.655000	0.94253	GTG		0.398	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		6	79	1	0	0.00116845	0.001168	0.00148222	6	79				
INPP4B	8821	broad.mit.edu	37	4	143045852	143045852	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:143045852C>T	ENST00000513000.1	-	20	2215	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	INPP4B_ENST00000262992.4_Silent_p.V594V|INPP4B_ENST00000308502.4_Silent_p.V594V|INPP4B_ENST00000509777.1_Silent_p.V594V|INPP4B_ENST00000508116.1_Silent_p.V594V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	594					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.V594V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CTCGGTTCACCACTTCTCCCA	0.517																																							uc003iix.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1780-1782)GTG>GTA		inositol polyphosphate-4-phosphatase, type II,							95.0	73.0	80.0					4																	143045852		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143045852C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1782G>A	4.37:g.143045852C>T						INPP4B_uc003iiw.3_Silent_p.V594V|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.V409V|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.V465V	p.V594V	NM_003866	NP_003857	O15327	INP4B_HUMAN			20	2377	-	all_hematologic(180;0.158)		594					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1782G>A	CCDS3757.1																																																																																				0.517	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		9	55	0	0	0	0.004482	0	9	55				
MAB21L2	10586	broad.mit.edu	37	4	151504238	151504238	+	Silent	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:151504238C>G	ENST00000317605.4	+	1	1162	c.57C>G	c.(55-57)cgC>cgG	p.R19R	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	19					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.R19R(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACACTGAGCGCTGTCAGGCGC	0.592																																							uc003ilw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(55-57)CGC>CGG		mab-21-like protein 2							31.0	31.0	31.0					4																	151504238		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504238C>G	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.57C>G	4.37:g.151504238C>G						LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.R19R	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1162	+	all_hematologic(180;0.151)		19					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.57C>G	CCDS3774.1																																																																																				0.592	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		9	22	0	0	0	0.006214	0	9	22				
MAP9	79884	broad.mit.edu	37	4	156273864	156273864	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:156273864C>G	ENST00000311277.4	-	13	1968	c.1705G>C	c.(1705-1707)Gct>Cct	p.A569P	MAP9_ENST00000515654.1_Missense_Mutation_p.A545P|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608406.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	569					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)		p.A569P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTGAAAAAAGCTTCCTTTTTT	0.279																																							uc003ios.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1705-1707)GCT>CCT		aster-associated protein							76.0	75.0	75.0					4																	156273864		2201	4296	6497	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156273864C>G	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1705G>C	4.37:g.156273864C>G	ENSP00000310593:p.Ala569Pro					MAP9_uc011cin.1_Missense_Mutation_p.A544P|MAP9_uc010iqa.1_RNA	p.A569P	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	13	1969	-	all_hematologic(180;0.24)	Renal(120;0.0458)	569			Potential.		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1705G>C	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.991603	0.54041	.	.	ENSG00000164114	ENST00000311277;ENST00000515654	T;T	0.13901	2.55;2.55	5.15	3.3	0.37823	.	1.061170	0.07334	N	0.879750	T	0.21550	0.0519	L	0.51422	1.61	0.80722	D	1	D;D	0.54207	0.965;0.965	P;P	0.54312	0.748;0.748	T	0.23762	-1.0179	10	0.34782	T	0.22	-4.7284	5.2998	0.15772	0.2023:0.6953:0.0:0.1025	.	544;569	B4DVG9;Q49MG5	.;MAP9_HUMAN	P	569;545	ENSP00000310593:A569P;ENSP00000427402:A545P	ENSP00000310593:A569P	A	-	1	0	MAP9	156493314	0.417000	0.25432	1.000000	0.80357	0.976000	0.68499	0.879000	0.28146	2.538000	0.85594	0.585000	0.79938	GCT		0.279	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		8	40	0	0	0	0.00308	0	8	40				
GUCY1A3	2982	broad.mit.edu	37	4	156618236	156618236	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:156618236A>G	ENST00000296518.7	+	3	426	c.217A>G	c.(217-219)Act>Gct	p.T73A	GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T73A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T73A|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T73A			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	73					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.T73A(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTATCTTCACACTTTGGCAGA	0.398																																							uc003iov.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(217-219)ACT>GCT		guanylate cyclase 1, soluble, alpha 3 isoform A							115.0	117.0	116.0					4																	156618236		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156618236A>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.217A>G	4.37:g.156618236A>G	ENSP00000296518:p.Thr73Ala					GUCY1A3_uc003iou.2_Missense_Mutation_p.T73A|GUCY1A3_uc010iqc.2_Missense_Mutation_p.T73A|GUCY1A3_uc003iow.2_Missense_Mutation_p.T73A|GUCY1A3_uc010iqd.2_Missense_Mutation_p.T73A|GUCY1A3_uc003iox.2_Missense_Mutation_p.T73A|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Missense_Mutation_p.T73A|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Missense_Mutation_p.T73A	p.T73A	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	4	753	+	all_hematologic(180;0.24)	Renal(120;0.0854)	73					D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.217A>G	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617870	0.87359	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.68;-1.83;-1.83;-1.83	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	D	0.89178	0.6641	M	0.64997	1.995	0.51012	D	0.999905	P;P;P	0.50369	0.934;0.934;0.934	P;P;P	0.55615	0.78;0.78;0.78	D	0.88258	0.2921	10	0.38643	T	0.18	.	16.3736	0.83374	1.0:0.0:0.0:0.0	.	73;73;73	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	A	73	ENSP00000424361:T73A;ENSP00000421493:T73A;ENSP00000426968:T73A;ENSP00000412201:T73A;ENSP00000296518:T73A;ENSP00000426040:T73A	ENSP00000296518:T73A	T	+	1	0	GUCY1A3	156837686	1.000000	0.71417	0.979000	0.43373	0.977000	0.68977	4.804000	0.62554	2.273000	0.75805	0.482000	0.46254	ACT		0.398	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			8	98	0	0	0	0.004482	0	8	98				
FSTL5	56884	broad.mit.edu	37	4	162463837	162463837	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:162463837C>A	ENST00000306100.5	-	9	1460	c.1024G>T	c.(1024-1026)Gtc>Ttc	p.V342F	FSTL5_ENST00000379164.4_Missense_Mutation_p.V341F|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.V341F|FSTL5_ENST00000427802.2_Missense_Mutation_p.V341F	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	342	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V342F(1)		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)		ACCCGGATGACTGGAGGAACT	0.393																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1024-1026)GTC>TTC		follistatin-like 5 isoform a							57.0	58.0	58.0					4																	162463837		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162463837C>A	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.1024G>T	4.37:g.162463837C>A	ENSP00000305334:p.Val342Phe					FSTL5_uc003iqi.2_Missense_Mutation_p.V341F|FSTL5_uc010iqv.2_Missense_Mutation_p.V341F	p.V342F	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1460	-	all_hematologic(180;0.24)		342			Ig-like 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1024G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247278	0.80024	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.22	5.22	0.72569	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.117867	0.56097	D	0.000027	T	0.72342	0.3448	L	0.38733	1.17	0.80722	D	1	D;P;P	0.54772	0.968;0.933;0.946	P;P;P	0.58331	0.837;0.451;0.776	T	0.73260	-0.4039	10	0.51188	T	0.08	.	18.1423	0.89643	0.0:1.0:0.0:0.0	.	341;341;342	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	F	342;341;341;341	ENSP00000305334:V342F;ENSP00000368462:V341F;ENSP00000389270:V341F;ENSP00000440409:V341F	ENSP00000305334:V342F	V	-	1	0	FSTL5	162683287	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.770000	0.68873	2.598000	0.87819	0.563000	0.77884	GTC		0.393	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		19	47	1	0	5.03518e-11	0.007413	8.1101e-11	19	47				
AGA	175	broad.mit.edu	37	4	178361559	178361559	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:178361559C>T	ENST00000264595.2	-	2	276	c.149G>A	c.(148-150)gGa>gAa	p.G50E	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	50					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.G50E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GGCAGAGCCTCCAGATGCTAA	0.453																																							uc003iuu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(148-150)GGA>GAA		aspartylglucosaminidase precursor							110.0	110.0	110.0					4																	178361559		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178361559C>T	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.149G>A	4.37:g.178361559C>T	ENSP00000264595:p.Gly50Glu					AGA_uc003iuv.1_5'Flank|AGA_uc003iuw.2_5'Flank	p.G50E	NM_000027	NP_000018	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	2	211	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	50					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.149G>A	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024221	0.75390	.	.	ENSG00000038002	ENST00000264595	D	0.92149	-2.98	5.6	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.95053	0.8398	M	0.90198	3.095	0.80722	D	1	P	0.37441	0.595	P	0.45506	0.483	D	0.95411	0.8498	10	0.62326	D	0.03	-0.1926	16.6376	0.85063	0.0:0.8699:0.1301:0.0	.	50	P20933	ASPG_HUMAN	E	50	ENSP00000264595:G50E	ENSP00000264595:G50E	G	-	2	0	AGA	178598553	1.000000	0.71417	0.983000	0.44433	0.543000	0.35085	5.651000	0.67951	1.496000	0.48567	0.563000	0.77884	GGA		0.453	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		4	118	0	0	0	0.000602	0	4	118				
LPCAT1	79888	broad.mit.edu	37	5	1494959	1494959	+	Missense_Mutation	SNP	C	C	A	rs199809414		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:1494959C>A	ENST00000283415.3	-	3	481	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	117					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)	p.V117L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		CGCCCCTTCACGGCCACCCGG	0.672																																							uc003jcm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(349-351)GTG>TTG		lysophosphatidylcholine acyltransferase 1							26.0	28.0	27.0					5																	1494959		2198	4289	6487	SO:0001583	missense	79888				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr5:1494959C>A	BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.349G>T	5.37:g.1494959C>A	ENSP00000283415:p.Val117Leu						p.V117L	NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)	3	466	-			117			Lumenal (Potential).		Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Missense_Mutation	SNP	ENST00000283415.3	37	c.349G>T	CCDS3864.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549045	0.86127	.	.	ENSG00000153395	ENST00000283415	D	0.94862	-3.54	4.98	4.98	0.66077	Phospholipid/glycerol acyltransferase (1);EF-hand-like domain (1);	0.061993	0.64402	D	0.000004	D	0.96516	0.8863	M	0.80847	2.515	0.53005	D	0.999963	P	0.34815	0.47	P	0.49528	0.614	D	0.96096	0.9065	10	0.41790	T	0.15	-33.6648	18.2352	0.89947	0.0:1.0:0.0:0.0	.	117	Q8NF37	PCAT1_HUMAN	L	117	ENSP00000283415:V117L	ENSP00000283415:V117L	V	-	1	0	LPCAT1	1547959	0.997000	0.39634	0.903000	0.35520	0.888000	0.51559	3.566000	0.53805	2.292000	0.77174	0.557000	0.71058	GTG		0.672	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304032.1	NM_024830		6	61	1	0	0.00116845	0.001168	0.00148222	6	61				
IRX1	79192	broad.mit.edu	37	5	3599846	3599846	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:3599846G>T	ENST00000302006.3	+	2	836	c.784G>T	c.(784-786)Gcc>Tcc	p.A262S	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	262					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A262S(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTCTGCTCTTGCCCGGGACCA	0.682																																							uc003jde.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(784-786)GCC>TCC		iroquois homeobox protein 1							18.0	20.0	19.0					5																	3599846		2196	4297	6493	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599846G>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.784G>T	5.37:g.3599846G>T	ENSP00000305244:p.Ala262Ser						p.A262S	NM_024337	NP_077313	P78414	IRX1_HUMAN			2	836	+			262					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.784G>T	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.934549	0.00488	.	.	ENSG00000170549	ENST00000302006	T	0.58506	0.33	3.9	0.788	0.18601	.	0.885609	0.09453	N	0.800150	T	0.34424	0.0897	N	0.22421	0.69	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.22871	-1.0204	10	0.07813	T	0.8	.	4.1742	0.10345	0.1854:0.0:0.5072:0.3074	.	262	P78414	IRX1_HUMAN	S	262	ENSP00000305244:A262S	ENSP00000305244:A262S	A	+	1	0	IRX1	3652846	0.000000	0.05858	0.057000	0.19452	0.005000	0.04900	-0.602000	0.05680	-0.111000	0.12001	-0.367000	0.07326	GCC		0.682	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		15	46	1	0	2.32078e-09	0.003163	3.6273e-09	15	46				
ADCY2	108	broad.mit.edu	37	5	7789797	7789797	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:7789797T>A	ENST00000338316.4	+	20	2601	c.2512T>A	c.(2512-2514)Ttc>Atc	p.F838I	ADCY2_ENST00000537121.1_Missense_Mutation_p.F658I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	838					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.F838I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAAGAACAAATTCAAAAAAGA	0.483																																							uc003jdz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2512-2514)TTC>ATC		adenylate cyclase 2							105.0	113.0	110.0					5																	7789797		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789797T>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2512T>A	5.37:g.7789797T>A	ENSP00000342952:p.Phe838Ile					ADCY2_uc011cmo.1_Missense_Mutation_p.F658I|ADCY2_uc010itm.1_Missense_Mutation_p.F34I	p.F838I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			20	2579	+			838			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2512T>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816466	0.90790	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81415	-1.01;-1.49	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.85741	0.5767	M	0.65320	2	0.58432	D	0.999998	P;D	0.54964	0.949;0.969	P;P	0.56751	0.758;0.805	D	0.86176	0.1603	10	0.48119	T	0.1	.	15.5055	0.75735	0.0:0.0:0.0:1.0	.	658;838	B7Z2C1;Q08462	.;ADCY2_HUMAN	I	838;671;658	ENSP00000342952:F838I;ENSP00000444803:F658I	ENSP00000342952:F838I	F	+	1	0	ADCY2	7842797	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.756000	0.85195	2.061000	0.61500	0.482000	0.46254	TTC		0.483	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		8	275	0	0	0	0.006214	0	8	275				
DNAH5	1767	broad.mit.edu	37	5	13737491	13737491	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:13737491C>A	ENST00000265104.4	-	66	11429	c.11325G>T	c.(11323-11325)ctG>ctT	p.L3775L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3775	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L3775L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCTTCTACCAGGGACCCCT	0.433									Kartagener syndrome																														uc003jfd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11323-11325)CTG>CTT		dynein, axonemal, heavy chain 5							183.0	171.0	175.0					5																	13737491		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737491C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11325G>T	5.37:g.13737491C>A						DNAH5_uc003jfc.2_Intron	p.L3775L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			66	11367	-	Lung NSC(4;0.00476)		3775			Potential.|AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11325G>T	CCDS3882.1																																																																																				0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		46	241	1	0	1.47857e-17	0.00361	2.59982e-17	46	241				
TRIO	7204	broad.mit.edu	37	5	14479403	14479403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:14479403C>T	ENST00000344204.4	+	42	6211	c.6187C>T	c.(6187-6189)Caa>Taa	p.Q2063*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.Q2063*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2063	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q2063*(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCTTATTGTCAAAATAAACC	0.343																																							uc003jff.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(6187-6189)CAA>TAA		triple functional domain (PTPRF interacting)							130.0	115.0	120.0					5																	14479403		2203	4300	6503	SO:0001587	stop_gained	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14479403C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.6187C>T	5.37:g.14479403C>T	ENSP00000339299:p.Gln2063*					TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Nonsense_Mutation_p.Q1712*	p.Q2063*	NM_007118	NP_009049	O75962	TRIO_HUMAN			42	6193	+	Lung NSC(4;0.000742)		2063			DH 2.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	c.6187C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	48	14.618225	0.99803	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000541447	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.8726	0.92322	0.0:1.0:0.0:0.0	.	.	.	.	X	2063;2063;1750;143	.	ENSP00000339299:Q2063X	Q	+	1	0	TRIO	14532403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.435000	0.82474	0.557000	0.71058	CAA		0.343	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		11	161	0	0	0	0.000978	0	11	161				
CDH18	1016	broad.mit.edu	37	5	19747105	19747105	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:19747105G>T	ENST00000507958.1	-	6	1459	c.469C>A	c.(469-471)Cca>Aca	p.P157T	CDH18_ENST00000511273.1_Missense_Mutation_p.P157T|CDH18_ENST00000506372.1_Missense_Mutation_p.P157T|CDH18_ENST00000382275.1_Missense_Mutation_p.P157T|CDH18_ENST00000274170.4_Missense_Mutation_p.P157T|CDH18_ENST00000502796.1_Missense_Mutation_p.P157T			Q13634	CAD18_HUMAN	cadherin 18, type 2	157	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P157T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTGAATTTTGGAGCGTTGTCA	0.363																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(469-471)CCA>ACA		cadherin 18, type 2 preproprotein							154.0	148.0	150.0					5																	19747105		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747105G>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.469C>A	5.37:g.19747105G>T	ENSP00000425093:p.Pro157Thr					CDH18_uc003jgd.2_Missense_Mutation_p.P157T|CDH18_uc011cnm.1_Missense_Mutation_p.P157T	p.P157T	NM_004934	NP_004925	Q13634	CAD18_HUMAN			3	846	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		157			Extracellular (Potential).|Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.469C>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241073	0.79912	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.88	4.88	0.63580	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	H	0.99903	4.92	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99334	1.0910	9	.	.	.	.	16.587	0.84729	0.0:0.0:1.0:0.0	.	157;157	B4DHG6;Q13634	.;CAD18_HUMAN	T	157;157;157;157;157;157;103;157	ENSP00000371710:P157T;ENSP00000425093:P157T;ENSP00000274170:P157T;ENSP00000424931:P157T;ENSP00000422138:P157T;ENSP00000427383:P103T;ENSP00000425854:P157T	.	P	-	1	0	CDH18	19782862	1.000000	0.71417	0.982000	0.44146	0.901000	0.52897	9.378000	0.97191	2.253000	0.74438	0.591000	0.81541	CCA		0.363	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		93	121	1	0	6.78661e-64	0.00361	1.24882e-63	93	121				
CDH12	1010	broad.mit.edu	37	5	21975400	21975400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:21975400C>A	ENST00000382254.1	-	6	1412	c.326G>T	c.(325-327)gGg>gTg	p.G109V	CDH12_ENST00000504376.2_Missense_Mutation_p.G109V|CDH12_ENST00000522262.1_Missense_Mutation_p.G109V	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	109	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G109V(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGAATGTCCCCTGTGGTTTC	0.493										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(325-327)GGG>GTG		cadherin 12, type 2 preproprotein							63.0	63.0	63.0					5																	21975400		2042	3864	5906	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975400C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.326G>T	5.37:g.21975400C>A	ENSP00000371689:p.Gly109Val	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.G109V|CDH12_uc003jgk.2_Missense_Mutation_p.G109V	p.G109V	NM_004061	NP_004052	P55289	CAD12_HUMAN			3	784	-			109			Cadherin 1.|Extracellular (Potential).		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.326G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241739	0.79912	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.73152	-0.72;-0.72;-0.72	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92492	0.7616	H	0.99924	4.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96368	0.9271	10	0.87932	D	0	.	18.6264	0.91340	0.0:1.0:0.0:0.0	.	109;109	B7Z2U6;P55289	.;CAD12_HUMAN	V	109	ENSP00000423577:G109V;ENSP00000371689:G109V;ENSP00000428786:G109V	ENSP00000371689:G109V	G	-	2	0	CDH12	22011157	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.397000	0.79903	2.414000	0.81942	0.484000	0.47621	GGG		0.493	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		58	171	1	0	7.05995e-25	0.00361	1.28788e-24	58	171				
CDH9	1007	broad.mit.edu	37	5	26902655	26902655	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:26902655C>A	ENST00000231021.4	-	7	1355	c.1183G>T	c.(1183-1185)Gat>Tat	p.D395Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	395	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D395Y(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCTTTACATCTTCATCTACT	0.368																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1183-1185)GAT>TAT		cadherin 9, type 2 preproprotein							125.0	119.0	121.0					5																	26902655		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902655C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1183G>T	5.37:g.26902655C>A	ENSP00000231021:p.Asp395Tyr						p.D395Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			7	1352	-			395			Extracellular (Potential).|Cadherin 4.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1183G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931287	0.73327	.	.	ENSG00000113100	ENST00000231021	T	0.53640	0.61	5.62	4.76	0.60689	Cadherin (3);Cadherin-like (1);	0.047610	0.85682	D	0.000000	T	0.79482	0.4453	H	0.97983	4.12	0.58432	D	0.999994	D	0.76494	0.999	D	0.78314	0.991	D	0.86645	0.1894	9	.	.	.	.	13.4424	0.61121	0.0:0.9235:0.0:0.0765	.	395	Q9ULB4	CADH9_HUMAN	Y	395	ENSP00000231021:D395Y	.	D	-	1	0	CDH9	26938412	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.702000	0.68332	1.377000	0.46286	-0.157000	0.13467	GAT		0.368	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		62	93	1	0	4.96213e-28	0.00361	9.10444e-28	62	93				
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T	rs531958842		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(799-801)CGA>CAA		cadherin 9, type 2 preproprotein							189.0	181.0	184.0					5																	26906079		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906079C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.800G>A	5.37:g.26906079C>T	ENSP00000231021:p.Arg267Gln					CDH9_uc010iug.2_Missense_Mutation_p.R267Q	p.R267Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			5	969	-			267			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.800G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.468779	0.84533	.	.	ENSG00000113100	ENST00000231021	T	0.37915	1.17	5.6	5.6	0.85130	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	N	0.20807	0.61	0.45690	D	0.9986	D	0.58970	0.984	P	0.55713	0.782	T	0.07158	-1.0787	9	.	.	.	.	18.5289	0.90984	0.0:1.0:0.0:0.0	.	267	Q9ULB4	CADH9_HUMAN	Q	267	ENSP00000231021:R267Q	.	R	-	2	0	CDH9	26941836	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.883000	0.63128	2.802000	0.96397	0.650000	0.86243	CGA		0.428	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		22	377	0	0	0	0.002299	0	22	377				
CDH9	1007	broad.mit.edu	37	5	26988490	26988490	+	Splice_Site	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:26988490C>T	ENST00000231021.4	-	2	124		c.e2-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGTTTTTCCTAAAGAGTAA	0.313																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.e2-1		cadherin 9, type 2 preproprotein							48.0	53.0	51.0					5																	26988490		2198	4296	6494	SO:0001630	splice_region_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26988490C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.49-1G>A	5.37:g.26988490C>T						CDH9_uc010iug.2_Splice_Site		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			2	121	-								Q3B7I5	Splice_Site	SNP	ENST00000231021.4	37	c.-48_splice	CCDS3893.1																																																																																				0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	Intron	13	48	0	0	0	0.001368	0	13	48				
ADAMTS12	81792	broad.mit.edu	37	5	33576335	33576335	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:33576335G>T	ENST00000504830.1	-	19	4131	c.3796C>A	c.(3796-3798)Cgt>Agt	p.R1266S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1181S|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1266	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1266S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGGTGGTTACGGTTTGCCGTC	0.498										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3796-3798)CGT>AGT		ADAM metallopeptidase with thrombospondin type 1							211.0	209.0	210.0					5																	33576335		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576335G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3796C>A	5.37:g.33576335G>T	ENSP00000422554:p.Arg1266Ser	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R1181S	p.R1266S	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3959	-			1266			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3796C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	0.518	-0.863618	0.02590	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58358	0.34;0.34	5.42	1.55	0.23275	.	1.345770	0.04358	N	0.357012	T	0.28267	0.0698	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.18429	-1.0337	10	0.08837	T	0.75	.	3.9976	0.09566	0.1763:0.0:0.495:0.3287	.	1181;1266	P58397-3;P58397	.;ATS12_HUMAN	S	1266;1181	ENSP00000422554:R1266S;ENSP00000344847:R1181S	ENSP00000344847:R1181S	R	-	1	0	ADAMTS12	33612092	0.014000	0.17966	0.000000	0.03702	0.009000	0.06853	0.933000	0.28897	0.237000	0.21200	0.655000	0.94253	CGT		0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		40	505	1	0	6.97489e-18	0.004878	1.23327e-17	40	505				
C5orf42	65250	broad.mit.edu	37	5	37201763	37201763	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:37201763C>T	ENST00000508244.1	-	18	3530	c.3437G>A	c.(3436-3438)gGc>gAc	p.G1146D	C5orf42_ENST00000425232.2_Missense_Mutation_p.G1146D|C5orf42_ENST00000274258.7_Missense_Mutation_p.G27D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1146						integral component of membrane (GO:0016021)		p.G27D(1)|p.G1146D(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGCACTAAGCCCCACAGTCT	0.418																																							uc011cpa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|skin(1)	7						c.(3436-3438)GGC>GAC		hypothetical protein LOC65250							114.0	114.0	114.0					5																	37201763		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37201763C>T		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3437G>A	5.37:g.37201763C>T	ENSP00000421690:p.Gly1146Asp					C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.G221D|C5orf42_uc011cpb.1_Missense_Mutation_p.G27D	p.G1146D	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		19	3668	-	all_lung(31;0.000616)		1146					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3437G>A	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.446524	0.84101	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.25749	1.81;1.81;1.78;1.79	5.48	5.48	0.80851	.	0.000000	0.44902	D	0.000417	T	0.39572	0.1083	N	0.19112	0.55	0.36622	D	0.875814	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49716	-0.8910	10	0.87932	D	0	.	19.3409	0.94340	0.0:1.0:0.0:0.0	.	1146;27	E9PH94;Q9H799	.;CE042_HUMAN	D	1146;1146;27;194;27	ENSP00000421690:G1146D;ENSP00000389014:G1146D;ENSP00000274258:G27D;ENSP00000424223:G194D	ENSP00000274258:G27D	G	-	2	0	C5orf42	37237520	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	1.952000	0.40343	2.583000	0.87209	0.313000	0.20887	GGC		0.418	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		8	203	0	0	0	0.004482	0	8	203				
RICTOR	253260	broad.mit.edu	37	5	38959970	38959970	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:38959970G>A	ENST00000357387.3	-	21	1992	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	RICTOR_ENST00000296782.5_Silent_p.T654T|RICTOR_ENST00000503698.1_5'Flank	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.T654T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GTTGACTAAGGGTGGTCAATA	0.378																																							uc003jlp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10						c.(1960-1962)ACC>ACT		rapamycin-insensitive companion of mTOR							130.0	133.0	132.0					5																	38959970		2203	4299	6502	SO:0001819	synonymous_variant	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38959970G>A		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.1962C>T	5.37:g.38959970G>A						RICTOR_uc003jlo.2_Silent_p.T654T|RICTOR_uc010ivf.2_Silent_p.T369T	p.T654T	NM_152756	NP_689969	Q6R327	RICTR_HUMAN			21	1986	-	all_lung(31;0.000396)		654						Silent	SNP	ENST00000357387.3	37	c.1962C>T	CCDS34148.1																																																																																				0.378	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		18	201	0	0	0	0.007413	0	18	201				
FYB	2533	broad.mit.edu	37	5	39202316	39202316	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:39202316G>T	ENST00000351578.6	-	2	937	c.747C>A	c.(745-747)gaC>gaA	p.D249E	FYB_ENST00000540520.1_Missense_Mutation_p.D259E|FYB_ENST00000512982.1_Missense_Mutation_p.D249E|FYB_ENST00000515010.1_Missense_Mutation_p.D249E|FYB_ENST00000505428.1_Missense_Mutation_p.D249E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	249					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.D249E(3)|p.D259E(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCCTGCATGGTCTTTATTTT	0.493																																							uc003jls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(745-747)GAC>GAA		FYN binding protein (FYB-120/130) isoform 2							104.0	102.0	102.0					5																	39202316		1838	4086	5924	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202316G>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.747C>A	5.37:g.39202316G>T	ENSP00000316460:p.Asp249Glu					FYB_uc003jlt.2_Missense_Mutation_p.D249E|FYB_uc003jlu.2_Missense_Mutation_p.D249E|FYB_uc011cpl.1_Missense_Mutation_p.D259E	p.D249E	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	814	-	all_lung(31;0.000343)		249					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.747C>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	G	8.206	0.799227	0.16397	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.25414	1.81;1.81;1.8;1.8;1.8	6.07	0.0443	0.14225	.	0.600314	0.17732	N	0.163856	T	0.13372	0.0324	N	0.25890	0.77	0.09310	N	1	B;B	0.15141	0.012;0.003	B;B	0.15052	0.012;0.003	T	0.30822	-0.9965	10	0.16896	T	0.51	-7.3681	6.1351	0.20227	0.2443:0.2443:0.5114:0.0	.	259;249	B4DLN2;O15117	.;FYB_HUMAN	E	249;249;249;249;259;249	ENSP00000316460:D249E;ENSP00000426346:D249E;ENSP00000425845:D249E;ENSP00000427114:D249E;ENSP00000442840:D259E	ENSP00000316460:D249E	D	-	3	2	FYB	39238073	0.132000	0.22450	0.052000	0.19188	0.163000	0.22366	0.270000	0.18607	-0.066000	0.12998	0.655000	0.94253	GAC		0.493	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		30	301	1	0	3.1745e-13	0.008361	5.23296e-13	30	301				
PLCXD3	345557	broad.mit.edu	37	5	41382556	41382556	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:41382556C>A	ENST00000377801.3	-	2	258	c.184G>T	c.(184-186)Gtc>Ttc	p.V62F	PLCXD3_ENST00000328457.3_Missense_Mutation_p.V62F			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	62	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)	p.V62F(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACAGAGACAAAATTCTGG	0.448																																							uc003jmm.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(184-186)GTC>TTC		phosphatidylinositol-specific phospholipase C, X							57.0	64.0	62.0					5																	41382556		2203	4299	6502	SO:0001583	missense	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382556C>A		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.184G>T	5.37:g.41382556C>A	ENSP00000367032:p.Val62Phe						p.V62F	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			2	286	-			62			PI-PLC X-box.		A6NL04	Missense_Mutation	SNP	ENST00000377801.3	37	c.184G>T	CCDS34150.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983588	0.74474	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	5.21	0.72293	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.052369	0.85682	D	0.000000	T	0.63367	0.2505	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	T	0.58509	-0.7624	9	0.15952	T	0.53	-18.2105	15.381	0.74654	0.0:0.9336:0.0:0.0664	.	62	Q63HM9	PLCX3_HUMAN	F	62	.	ENSP00000333751:V62F	V	-	1	0	PLCXD3	41418313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.626000	0.67777	1.583000	0.49898	0.655000	0.94253	GTC		0.448	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875		30	192	1	0	5.45727e-16	0.008361	9.28616e-16	30	192				
ITGA1	3672	broad.mit.edu	37	5	52145269	52145269	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:52145269A>T	ENST00000282588.6	+	2	590	c.132A>T	c.(130-132)gaA>gaT	p.E44D		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	44					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.E44D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GCCCGGTGGAAGACATGTTTG	0.358																																							uc003jou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(130-132)GAA>GAT		integrin, alpha 1 precursor							120.0	121.0	120.0					5																	52145269		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52145269A>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.132A>T	5.37:g.52145269A>T	ENSP00000282588:p.Glu44Asp					ITGA1_uc003jov.2_RNA	p.E44D	NM_181501	NP_852478	P56199	ITA1_HUMAN			2	184	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	44			Extracellular (Potential).|FG-GAP 1.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.132A>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085867	0.55861	.	.	ENSG00000213949	ENST00000282588	D	0.84873	-1.91	5.62	-1.03	0.10102	.	0.000000	0.85682	D	0.000000	T	0.75510	0.3859	L	0.37507	1.11	0.51482	D	0.999927	B	0.23891	0.093	B	0.22880	0.042	T	0.60885	-0.7174	10	0.34782	T	0.22	.	11.8035	0.52141	0.655:0.0:0.345:0.0	.	44	P56199	ITA1_HUMAN	D	44	ENSP00000282588:E44D	ENSP00000282588:E44D	E	+	3	2	ITGA1	52181026	0.995000	0.38212	0.983000	0.44433	0.991000	0.79684	0.210000	0.17455	-0.435000	0.07264	-0.426000	0.05927	GAA		0.358	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		17	147	0	0	0	0.004007	0	17	147				
ITGA2	3673	broad.mit.edu	37	5	52369034	52369034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:52369034C>A	ENST00000296585.5	+	20	2659	c.2516C>A	c.(2515-2517)aCt>aAt	p.T839N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	839					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.T839N(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATACAACACTGGAATTGTT	0.363																																							uc003joy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(2515-2517)ACT>AAT		integrin alpha 2 precursor							167.0	160.0	163.0					5																	52369034		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52369034C>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2516C>A	5.37:g.52369034C>A	ENSP00000296585:p.Thr839Asn					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.T763N|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_Intron	p.T839N	NM_002203	NP_002194	P17301	ITA2_HUMAN			20	2659	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	839			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.2516C>A	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.173731	0.57692	.	.	ENSG00000164171	ENST00000296585	T	0.58797	0.31	5.87	4.08	0.47627	Integrin alpha-2 (1);	0.143074	0.64402	D	0.000007	T	0.70107	0.3186	M	0.64170	1.965	0.47153	D	0.999339	D;D	0.59767	0.986;0.978	D;P	0.66979	0.948;0.895	T	0.73550	-0.3947	10	0.87932	D	0	.	11.7867	0.52047	0.0:0.8093:0.1245:0.0662	.	839;839	E7ESP4;P17301	.;ITA2_HUMAN	N	839	ENSP00000296585:T839N	ENSP00000296585:T839N	T	+	2	0	ITGA2	52404791	0.995000	0.38212	0.836000	0.33094	0.508000	0.34012	3.348000	0.52209	1.623000	0.50342	0.655000	0.94253	ACT		0.363	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		23	391	1	0	7.41877e-09	0.001882	1.1426e-08	23	391				
CDC20B	166979	broad.mit.edu	37	5	54415705	54415705	+	Silent	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:54415705T>G	ENST00000381375.2	-	11	1528	c.1383A>C	c.(1381-1383)gcA>gcC	p.A461A	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000296733.1_Silent_p.A461A|CDC20B_ENST00000322374.6_Silent_p.A419A			Q86Y33	CD20B_HUMAN	cell division cycle 20B	461								p.A461A(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTGACCAGTTGCAATCTCCT	0.393																																							uc003jpo.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1381-1383)GCA>GCC		CDC20 cell division cycle 20 homolog B isoform							167.0	158.0	161.0					5																	54415705		2203	4300	6503	SO:0001819	synonymous_variant	166979							g.chr5:54415705T>G	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.1383A>C	5.37:g.54415705T>G						CDC20B_uc003jpn.1_Silent_p.A461A|CDC20B_uc010ivu.1_Silent_p.A419A	p.A461A	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		11	1558	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	461			WD 6.		B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	c.1383A>C	CCDS54852.1																																																																																				0.393	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		149	357	0	0	0	0.00361	0	149	357				
DHX29	54505	broad.mit.edu	37	5	54573088	54573088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:54573088G>C	ENST00000251636.5	-	13	2280	c.2132C>G	c.(2131-2133)tCa>tGa	p.S711*	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	711	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.S711*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGGAAGTCTGACTGGACACT	0.338																																							uc003jpx.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2131-2133)TCA>TGA		DEAH (Asp-Glu-Ala-His) box polypeptide 29							52.0	53.0	53.0					5																	54573088		2203	4300	6503	SO:0001587	stop_gained	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54573088G>C	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2132C>G	5.37:g.54573088G>C	ENSP00000251636:p.Ser711*					DHX29_uc010ivw.2_RNA	p.S711*	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN			13	2252	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	711			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Nonsense_Mutation	SNP	ENST00000251636.5	37	c.2132C>G	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	41	8.960081	0.99018	.	.	ENSG00000067248	ENST00000251636	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.9035	0.96999	0.0:0.0:1.0:0.0	.	.	.	.	X	711	.	ENSP00000251636:S711X	S	-	2	0	DHX29	54608845	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.406000	0.97321	2.712000	0.92718	0.650000	0.86243	TCA		0.338	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		5	197	0	0	0	0.001168	0	5	197				
MAP3K1	4214	broad.mit.edu	37	5	56160759	56160759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:56160759C>T	ENST00000399503.3	+	4	1033	c.1033C>T	c.(1033-1035)Cag>Tag	p.Q345*	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	345					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.Q182*(1)|p.Q345*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TATTGGGCCTCAGGTAGGATT	0.383																																							uc003jqw.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1033-1035)CAG>TAG		mitogen-activated protein kinase kinase kinase							81.0	80.0	80.0					5																	56160759		1839	4079	5918	SO:0001587	stop_gained	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160759C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.1033C>T	5.37:g.56160759C>T	ENSP00000382423:p.Gln345*						p.Q345*	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	4	1534	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	345			SWIM-type.			Nonsense_Mutation	SNP	ENST00000399503.3	37	c.1033C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	35	5.466042	0.96257	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.5	4.63	0.57726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3647	0.66799	0.0:0.9288:0.0:0.0712	.	.	.	.	X	345	.	ENSP00000382423:Q345X	Q	+	1	0	MAP3K1	56196516	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.764000	0.74960	1.455000	0.47813	0.563000	0.77884	CAG		0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		6	66	0	0	0	0.001168	0	6	66				
HAPLN1	1404	broad.mit.edu	37	5	82940367	82940367	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:82940367G>T	ENST00000274341.4	-	4	1440	c.590C>A	c.(589-591)gCc>gAc	p.A197D		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	197	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.A197D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	GCCCCGCCAGGCGTCGTACAG	0.612																																							uc003kim.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(589-591)GCC>GAC		hyaluronan and proteoglycan link protein 1							40.0	43.0	42.0					5																	82940367		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940367G>T		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.590C>A	5.37:g.82940367G>T	ENSP00000274341:p.Ala197Asp					HAPLN1_uc003kin.2_Missense_Mutation_p.A197D	p.A197D	NM_001884	NP_001875	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	661	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	197			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.590C>A	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152753	0.94645	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307	T;T;T	0.19105	2.17;2.17;2.17	5.8	5.8	0.92144	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.77928	-0.2404	10	0.87932	D	0	.	20.0608	0.97674	0.0:0.0:1.0:0.0	.	197	P10915	HPLN1_HUMAN	D	197	ENSP00000274341:A197D;ENSP00000422592:A197D;ENSP00000421341:A197D	ENSP00000274341:A197D	A	-	2	0	HAPLN1	82976123	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	7.502000	0.81614	2.733000	0.93635	0.650000	0.86243	GCC		0.612	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		6	50	1	0	2.17888e-05	0.006214	2.95972e-05	6	50				
WDR36	134430	broad.mit.edu	37	5	110459809	110459809	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:110459809A>G	ENST00000513710.2	+	21	2444	c.2440A>G	c.(2440-2442)Aaa>Gaa	p.K814E	WDR36_ENST00000506538.2_Missense_Mutation_p.K814E			Q8NI36	WDR36_HUMAN	WD repeat domain 36	814					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.K814E(1)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTTTAAGTCTAAAGTGGTAAA	0.264																																							uc003kpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2440-2442)AAA>GAA		WD repeat domain 36							68.0	73.0	72.0					5																	110459809		2199	4290	6489	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110459809A>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.2440A>G	5.37:g.110459809A>G	ENSP00000424628:p.Lys814Glu					WDR36_uc010jbu.2_Intron	p.K814E	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	21	2557	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	814					A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.2440A>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.036932	0.75617	.	.	ENSG00000134987	ENST00000506538;ENST00000513710	T;T	0.75821	-0.97;-0.97	5.77	5.77	0.91146	Small-subunit processome, Utp21 (1);	0.000000	0.85682	D	0.000000	D	0.82756	0.5106	L	0.56340	1.77	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	D	0.84454	0.0590	10	0.87932	D	0	-23.3655	16.3948	0.83586	1.0:0.0:0.0:0.0	.	814	Q8NI36	WDR36_HUMAN	E	814	ENSP00000423067:K814E;ENSP00000424628:K814E	ENSP00000423067:K814E	K	+	1	0	WDR36	110487708	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.378000	0.79679	2.326000	0.78906	0.533000	0.62120	AAA		0.264	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		10	89	0	0	0	0.000978	0	10	89				
KCNN2	3781	broad.mit.edu	37	5	113698885	113698885	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:113698885C>T	ENST00000512097.3	+	2	1431	c.413C>T	c.(412-414)gCg>gTg	p.A138V	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.A138V			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	138					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.A138V(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	AGCGACTACGCGCTCATCTTC	0.597																																							uc003kqo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(412-414)GCG>GTG		small conductance calcium-activated potassium							36.0	37.0	37.0					5																	113698885		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698885C>T	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.413C>T	5.37:g.113698885C>T	ENSP00000427120:p.Ala138Val						p.A138V	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	1	870	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	138			Helical; Name=Segment S1; (Potential).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.413C>T	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381428	0.95945	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98968	-5.28;-5.28	5.44	5.44	0.79542	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99013	1.0815	10	0.87932	D	0	.	18.8802	0.92353	0.0:1.0:0.0:0.0	.	138	Q9H2S1	KCNN2_HUMAN	V	138	ENSP00000427120:A138V;ENSP00000264773:A138V	ENSP00000264773:A138V	A	+	2	0	KCNN2	113726784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.556000	0.82233	2.536000	0.85505	0.655000	0.94253	GCG		0.597	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	25	0	0	0	0.000248	0	4	25				
SNCAIP	9627	broad.mit.edu	37	5	121786248	121786248	+	Missense_Mutation	SNP	C	C	T	rs565022330	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:121786248C>T	ENST00000261368.8	+	10	1968	c.1706C>T	c.(1705-1707)tCc>tTc	p.S569F	CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S203F|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S171F|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.S616F|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S616F|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S127F|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.S509F|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000504884.2_3'UTR	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	569					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.S616F(1)|p.S569F(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCACCTGCCTCCAGAAAGTCC	0.453																																							uc003ksw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1705-1707)TCC>TTC		synuclein alpha interacting protein							117.0	131.0	126.0					5																	121786248		2203	4299	6502	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121786248C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1706C>T	5.37:g.121786248C>T	ENSP00000261368:p.Ser569Phe					SNCAIP_uc011cwl.1_Missense_Mutation_p.S127F|SNCAIP_uc003ksx.1_Missense_Mutation_p.S616F|SNCAIP_uc003ksy.1_Missense_Mutation_p.S203F|SNCAIP_uc003ksz.1_Missense_Mutation_p.S203F|SNCAIP_uc010jcu.2_Missense_Mutation_p.S165F|SNCAIP_uc011cwm.1_Missense_Mutation_p.S203F|SNCAIP_uc003kta.1_Missense_Mutation_p.S201F|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.S263F|SNCAIP_uc010jcx.1_Missense_Mutation_p.S509F|uc003ktb.1_RNA|SNCAIP_uc003ktc.1_Missense_Mutation_p.S85F	p.S569F	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	10	1912	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	569					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.1706C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625206	0.46840	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317;ENST00000447854	T;T;T;T;T;T;T;T	0.14766	4.29;4.84;2.53;2.48;4.82;4.78;2.48;4.51	5.92	4.14	0.48551	.	0.289611	0.39544	N	0.001324	T	0.30978	0.0782	L	0.57536	1.79	0.28742	N	0.901936	P;P;P;P;P;P;P;P	0.52061	0.884;0.771;0.901;0.573;0.95;0.573;0.731;0.612	P;B;P;B;P;B;P;B	0.56216	0.678;0.424;0.467;0.232;0.794;0.232;0.549;0.203	T	0.23904	-1.0175	10	0.66056	D	0.02	-6.8162	19.4153	0.94694	0.0:0.7858:0.2142:0.0	.	509;197;171;509;203;203;616;569	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	F	127;509;569;616;509;203;616;171;209	ENSP00000441681:S127F;ENSP00000422106:S509F;ENSP00000261368:S569F;ENSP00000368848:S616F;ENSP00000368851:S509F;ENSP00000368854:S203F;ENSP00000261367:S616F;ENSP00000394392:S171F	ENSP00000261367:S616F	S	+	2	0	SNCAIP	121814147	1.000000	0.71417	0.512000	0.27736	0.855000	0.48748	2.139000	0.42149	0.404000	0.25506	-0.795000	0.03280	TCC		0.453	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			17	212	0	0	0	0.006122	0	17	212				
CDKL3	51265	broad.mit.edu	37	5	133702187	133702187	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:133702187C>A	ENST00000265334.4	-	2	146	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000435211.1_Missense_Mutation_p.V10L|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609383.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000521118.1_Missense_Mutation_p.V10L|CDKL3_ENST00000523832.1_Missense_Mutation_p.V10L|CDKL3_ENST00000523054.1_Intron|CDKL3_ENST00000435240.2_Intron|CTD-2410N18.4_ENST00000518409.1_RNA	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	10	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.V10L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTCTCCCACTTTTCCAAGG	0.338																																							uc003kzf.3		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(28-30)GTG>TTG		cyclin-dependent kinase-like 3 isoform 1							93.0	83.0	86.0					5																	133702187		1817	4075	5892	SO:0001583	missense	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133702187C>A	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.28G>T	5.37:g.133702187C>A	ENSP00000265334:p.Val10Leu					CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_Intron|CDKL3_uc003kzg.3_Missense_Mutation_p.V10L|CDKL3_uc011cxr.1_Missense_Mutation_p.V10L	p.V10L	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	147	-			10			ATP (By similarity).|Protein kinase.		D3DQA0|D3DQA1|Q9P114	Missense_Mutation	SNP	ENST00000265334.4	37	c.28G>T	CCDS47264.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972908	0.74246	.	.	ENSG00000006837	ENST00000265334;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000052	T	0.39064	0.1064	N	0.04260	-0.245	0.42564	D	0.993151	B;D	0.57257	0.054;0.979	B;D	0.63703	0.068;0.917	T	0.51957	-0.8639	10	0.54805	T	0.06	0.0331	19.1451	0.93461	0.0:1.0:0.0:0.0	.	10;10	E7ET86;Q8IVW4	.;CDKL3_HUMAN	L	10	ENSP00000265334:V10L;ENSP00000428689:V10L;ENSP00000430496:V10L;ENSP00000395559:V10L	ENSP00000265334:V10L	V	-	1	0	CDKL3	133730086	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.485000	0.53208	2.820000	0.97059	0.650000	0.86243	GTG		0.338	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		5	30	1	0	0.00198382	0.001984	0.00247684	5	30				
DDX46	9879	broad.mit.edu	37	5	134147433	134147433	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:134147433C>T	ENST00000354283.4	+	18	2469	c.2334C>T	c.(2332-2334)ttC>ttT	p.F778F	DDX46_ENST00000452510.2_Silent_p.F778F			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	778					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.F778F(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAAGGGATTCAAGTTTGATG	0.353																																					Colon(13;391 453 4901 21675 24897)	Colon(13;391 453 4901 21675 24897)	uc003kzw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2332-2334)TTC>TTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 46							112.0	117.0	115.0					5																	134147433		2203	4300	6503	SO:0001819	synonymous_variant	9879				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr5:134147433C>T		CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2334C>T	5.37:g.134147433C>T						DDX46_uc003kzv.1_RNA	p.F778F	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		18	2502	+			778					O94894|Q96EI0|Q9Y658	Silent	SNP	ENST00000354283.4	37	c.2334C>T	CCDS34240.1																																																																																				0.353	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371584.1	NM_014829		10	117	0	0	0	0.006214	0	10	117				
PCDHA1	56147	broad.mit.edu	37	5	140167047	140167048	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140167047_140167048CC>AA	ENST00000504120.2	+	1	1172_1173	c.1172_1173CC>AA	c.(1171-1173)cCC>cAA	p.P391Q	PCDHA1_ENST00000394633.3_Missense_Mutation_p.P391Q|PCDHA1_ENST00000378133.3_Missense_Mutation_p.P391Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	391	Cadherin 4. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P391Q(2)		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)			TCCTTAATGCCCCACGTCCCCT	0.584																																							uc003lhb.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1171-1173)CCC>CAA		protocadherin alpha 1 isoform 1 precursor																																				SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167047_140167048CC>AA	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		Exception_encountered	5.37:g.140167047_140167048delinsAA	ENSP00000420840:p.Pro391Gln					PCDHA1_uc003lha.2_Missense_Mutation_p.P391Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.P391Q	p.P391Q	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1172_1173	+			391			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	DNP	ENST00000504120.2	37	c.1172_1173CC>AA	CCDS54913.1																																																																																				0.584	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		14	130	0	0	0	0.004672	0	14	130				
PCDHAC1	56135	broad.mit.edu	37	5	140306690	140306690	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140306690C>A	ENST00000253807.2	+	1	213	c.213C>A	c.(211-213)ccC>ccA	p.P71P	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.P71P|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P71P(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATCTACCCAGCGGCAATT	0.637																																							uc003lih.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(211-213)CCC>CCA		protocadherin alpha subfamily C, 1 isoform 1							43.0	48.0	46.0					5																	140306690		2203	4300	6503	SO:0001819	synonymous_variant	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140306690C>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.213C>A	5.37:g.140306690C>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_uc003lig.1_Silent_p.P71P	p.P71P	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	389	+			71			Cadherin 1.|Extracellular (Potential).		Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	37	c.213C>A	CCDS4241.1																																																																																				0.637	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		8	50	1	0	0.00307968	0.00308	0.00382243	8	50				
PCDHB7	56129	broad.mit.edu	37	5	140554442	140554442	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140554442G>T	ENST00000231137.3	+	1	2200	c.2026G>T	c.(2026-2028)Gcg>Tcg	p.A676S	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	676					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A676S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCGGAGGCGGCCCCGGA	0.692																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2026-2028)GCG>TCG		protocadherin beta 7 precursor							48.0	78.0	68.0					5																	140554442		2185	4283	6468	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554442G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2026G>T	5.37:g.140554442G>T	ENSP00000231137:p.Ala676Ser					PCDHB8_uc011dai.1_5'Flank	p.A676S	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2200	+			676			Extracellular (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.2026G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364797	0.24684	.	.	ENSG00000113212	ENST00000231137	T	0.50001	0.76	3.77	1.86	0.25419	.	.	.	.	.	T	0.47783	0.1464	M	0.68317	2.08	0.09310	N	1	P	0.38788	0.647	B	0.43386	0.418	T	0.40850	-0.9541	9	0.54805	T	0.06	.	5.8717	0.18807	0.2557:0.0:0.7443:0.0	.	676	Q9Y5E2	PCDB7_HUMAN	S	676	ENSP00000231137:A676S	ENSP00000231137:A676S	A	+	1	0	PCDHB7	140534626	0.000000	0.05858	0.104000	0.21259	0.309000	0.27889	-0.144000	0.10280	0.657000	0.30906	0.449000	0.29647	GCG		0.692	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		19	184	1	0	1.56452e-12	0.007413	2.55903e-12	19	184				
PCDHGA11	56105	broad.mit.edu	37	5	140801457	140801457	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140801457C>T	ENST00000398587.2	+	1	696	c.663C>T	c.(661-663)ccC>ccT	p.P221P	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.P221P|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	221	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)	p.P221P(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGCGATCCCATCCGAAAGG	0.527																																							uc003lkq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(661-663)CCC>CCT		protocadherin gamma subfamily A, 11 isoform 1							60.0	64.0	63.0					5																	140801457		2046	4216	6262	SO:0001819	synonymous_variant	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140801457C>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.663C>T	5.37:g.140801457C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Silent_p.P221P|PCDHGA11_uc003lkp.1_Silent_p.P221P	p.P221P	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	921	+			221			Extracellular (Potential).|Cadherin 2.		B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	ENST00000398587.2	37	c.663C>T	CCDS47294.1																																																																																				0.527	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		7	77	0	0	0	0.001984	0	7	77				
PCDHGC4	56098	broad.mit.edu	37	5	140866246	140866246	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:140866246A>G	ENST00000306593.1	+	1	1506	c.1506A>G	c.(1504-1506)gtA>gtG	p.V502V	PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V502V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGAGATGTATCAGCTTCCT	0.537																																							uc003lky.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1504-1506)GTA>GTG		protocadherin gamma subfamily C, 4 isoform 1							110.0	113.0	112.0					5																	140866246		2203	4300	6503	SO:0001819	synonymous_variant	56098				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140866246A>G	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1506A>G	5.37:g.140866246A>G						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc011dbb.1_Silent_p.V502V|PCDHGC5_uc011dbc.1_5'Flank|PCDHGC5_uc003lla.1_5'Flank	p.V502V	NM_018928	NP_061751	Q9Y5F7	PCDGL_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1506	+			502			Cadherin 5.|Extracellular (Potential).		Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.1506A>G	CCDS4262.1																																																																																				0.537	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		35	173	0	0	0	0.002836	0	35	173				
GALNT10	55568	broad.mit.edu	37	5	153783750	153783750	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:153783750G>T	ENST00000297107.6	+	8	1280	c.1143G>T	c.(1141-1143)ccG>ccT	p.P381P	GALNT10_ENST00000519544.1_3'UTR|GALNT10_ENST00000377657.3_Silent_p.P52P|GALNT10_ENST00000377661.2_Silent_p.P319P|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	381	Flexible loop.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P381P(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ACAAGGTCCCGGCCGGAGTCA	0.627																																							uc003lvh.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(1141-1143)CCG>CCT		GalNAc transferase 10 isoform a							65.0	58.0	60.0					5																	153783750		2203	4300	6503	SO:0001819	synonymous_variant	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153783750G>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1143G>T	5.37:g.153783750G>T						GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.P222P|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.P52P	p.P381P	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		8	1275	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	381			Lumenal (Potential).|Flexible loop.		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	ENST00000297107.6	37	c.1143G>T	CCDS4325.1																																																																																				0.627	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		11	43	1	0	6.40141e-05	0.000978	8.47718e-05	11	43				
GABRB2	2561	broad.mit.edu	37	5	160763718	160763718	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:160763718T>A	ENST00000393959.1	-	6	599	c.600A>T	c.(598-600)acA>acT	p.T200T	GABRB2_ENST00000517547.1_Silent_p.T40T|GABRB2_ENST00000517901.1_Silent_p.T137T|GABRB2_ENST00000353437.6_Silent_p.T200T|GABRB2_ENST00000274547.2_Silent_p.T200T|GABRB2_ENST00000520240.1_Silent_p.T200T			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	200					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|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)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.T200T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCGTTACTCCTGTTACTGCAT	0.373																																							uc003lys.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(598-600)ACA>ACT		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						133.0	132.0	132.0					5																	160763718		2203	4300	6503	SO:0001819	synonymous_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160763718T>A		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.600A>T	5.37:g.160763718T>A						GABRB2_uc011deh.1_Silent_p.T39T|GABRB2_uc003lyr.1_Silent_p.T200T|GABRB2_uc003lyt.1_Silent_p.T200T|GABRB2_uc010jiu.1_Silent_p.T137T	p.T200T	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	818	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	200			Extracellular (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Silent	SNP	ENST00000393959.1	37	c.600A>T	CCDS4355.1																																																																																				0.373	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			19	89	0	0	0	0.006122	0	19	89				
GABRG2	2566	broad.mit.edu	37	5	161524754	161524754	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:161524754G>T	ENST00000361925.4	+	4	658	c.438G>T	c.(436-438)tgG>tgT	p.W146C	GABRG2_ENST00000356592.3_Missense_Mutation_p.W146C|GABRG2_ENST00000393933.4_Missense_Mutation_p.W51C|GABRG2_ENST00000414552.2_Missense_Mutation_p.W146C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	146					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.W146C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGAAAATCTGGATTCCAGACA	0.423																																							uc003lyz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(436-438)TGG>TGT		gamma-aminobutyric acid A receptor, gamma 2							96.0	96.0	96.0					5																	161524754		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524754G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.438G>T	5.37:g.161524754G>T	ENSP00000354651:p.Trp146Cys					GABRG2_uc010jjc.2_Missense_Mutation_p.W146C|GABRG2_uc003lyy.3_Missense_Mutation_p.W146C|GABRG2_uc011dej.1_Missense_Mutation_p.W51C	p.W146C	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	796	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	146			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.438G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428867	0.83667	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.053488	0.85682	D	0.000000	D	0.99536	0.9834	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.999	D	0.98093	1.0410	10	0.87932	D	0	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	146;146;146	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	146;146;146;51;51	ENSP00000349000:W146C;ENSP00000410732:W146C;ENSP00000354651:W146C;ENSP00000377510:W51C;ENSP00000430182:W51C	ENSP00000349000:W146C	W	+	3	0	GABRG2	161457332	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.686000	0.98664	2.756000	0.94617	0.563000	0.77884	TGG		0.423	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			19	68	1	0	3.57192e-18	0.006122	6.33341e-18	19	68				
TENM2	57451	broad.mit.edu	37	5	167645439	167645439	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:167645439G>T	ENST00000518659.1	+	23	4582	c.4543G>T	c.(4543-4545)Ggg>Tgg	p.G1515W	TENM2_ENST00000403607.2_Missense_Mutation_p.G1339W|TENM2_ENST00000520394.1_Missense_Mutation_p.G1276W|TENM2_ENST00000519204.1_Missense_Mutation_p.G1394W|TENM2_ENST00000545108.1_Missense_Mutation_p.G1514W	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1515					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.G1348W(1)|p.G1394W(1)|p.G1515W(1)									CCTTTTAGCTGGGGCAGCCTC	0.498																																							uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(4516-4518)GGG>TGG		odz, odd Oz/ten-m homolog 2							145.0	148.0	147.0					5																	167645439		2085	4223	6308	SO:0001583	missense	57451							g.chr5:167645439G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4543G>T	5.37:g.167645439G>T	ENSP00000429430:p.Gly1515Trp					ODZ2_uc003lzr.3_Missense_Mutation_p.G1276W|ODZ2_uc003lzt.3_Missense_Mutation_p.G879W|ODZ2_uc010jje.2_Missense_Mutation_p.G770W	p.G1506W	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4516	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4516G>T		.	.	.	.	.	.	.	.	.	.	G	22.5	4.296645	0.81025	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;D;T;T;T	0.90563	1.45;-2.69;1.45;1.45;1.45	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98050	1.0387	10	0.87932	D	0	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1514;1515;1276	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	W	1515;1514;1394;1276;1339	ENSP00000429430:G1515W;ENSP00000438635:G1514W;ENSP00000428964:G1394W;ENSP00000427874:G1276W;ENSP00000384905:G1339W	ENSP00000384905:G1339W	G	+	1	0	ODZ2	167578017	1.000000	0.71417	0.961000	0.40146	0.990000	0.78478	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GGG		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		39	173	1	0	4.14481e-20	0.00623	7.41148e-20	39	173				
DOCK2	1794	broad.mit.edu	37	5	169423144	169423144	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:169423144A>G	ENST00000256935.8	+	30	3128	c.3048A>G	c.(3046-3048)ctA>ctG	p.L1016L	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L77L|DOCK2_ENST00000520908.1_Silent_p.L508L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1016	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.L1016L(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAGTTCCTAGAACACACGA	0.498																																							uc003maf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(3046-3048)CTA>CTG		dedicator of cytokinesis 2							101.0	93.0	96.0					5																	169423144		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169423144A>G	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3048A>G	5.37:g.169423144A>G						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L508L	p.L1016L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		30	3128	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1016			Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3048A>G	CCDS4371.1																																																																																				0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		3	76	0	0	0	0.004672	0	3	76				
RANBP17	64901	broad.mit.edu	37	5	170305126	170305126	+	Missense_Mutation	SNP	G	G	T	rs147041695		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:170305126G>T	ENST00000523189.1	+	2	208	c.44G>T	c.(43-45)tGt>tTt	p.C15F		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	15					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)	p.C15F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAAGTGTTATGTACTCATCTC	0.338			T	TRD@	ALL																																		uc003mba.2		NA		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(43-45)TGT>TTT		RAN binding protein 17							80.0	78.0	79.0					5																	170305126		2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170305126G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.44G>T	5.37:g.170305126G>T	ENSP00000427975:p.Cys15Phe					RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Missense_Mutation_p.C15F|RANBP17_uc011dew.1_Missense_Mutation_p.C15F	p.C15F	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		2	60	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	15					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.44G>T	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.895535	0.72639	.	.	ENSG00000204764	ENST00000523189	T	0.66995	-0.24	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.51477	D	0.000089	D	0.84311	0.5444	M	0.85777	2.775	0.52099	D	0.999941	D;D	0.89917	1.0;0.99	D;P	0.83275	0.996;0.675	D	0.86800	0.1991	10	0.87932	D	0	-11.5866	18.6626	0.91477	0.0:0.0:1.0:0.0	.	15;65	Q9H2T7;B4DQG2	RBP17_HUMAN;.	F	15	ENSP00000427975:C15F	ENSP00000373770:C15F	C	+	2	0	RANBP17	170237704	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.330000	0.79181	2.492000	0.84095	0.563000	0.77884	TGT		0.338	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		9	46	1	0	3.09899e-07	0.004482	4.56199e-07	9	46				
LOC202181	202181	broad.mit.edu	37	5	177054515	177054515	+	IGR	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:177054515A>G								RP11-1277A3.1 (7760 upstream) : RP11-1277A3.2 (4560 downstream)																							CACAAAGTCCATCAAAAACTG	0.443																																							uc011dgc.1		NA																	0					0						c.(229-231)ATG>ACG		hypothetical protein LOC375484																																				SO:0001628	intergenic_variant	202181							g.chr5:177054515A>G																													5.37:g.177054515A>G						LOC202181_uc011dgb.1_RNA	p.M77T	NM_198567	NP_940969					2	358	-									Missense_Mutation	SNP		37	c.230T>C																																																																																				0	0.443									20	94	0	0	0	0.002299	0	20	94				
ADAMTS2	9509	broad.mit.edu	37	5	178581891	178581891	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:178581891G>A	ENST00000251582.7	-	7	1263	c.1162C>T	c.(1162-1164)Ccg>Tcg	p.P388S	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.P388S	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	388	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P388S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGCGGACCGGATGGCACATG	0.637																																							uc003mjw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1162-1164)CCG>TCG		ADAM metallopeptidase with thrombospondin type 1							57.0	46.0	50.0					5																	178581891		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581891G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1162C>T	5.37:g.178581891G>A	ENSP00000251582:p.Pro388Ser					ADAMTS2_uc011dgm.1_Missense_Mutation_p.P388S	p.P388S	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	7	1162	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	388			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1162C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803837	0.90623	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.87887	-2.31;-2.31	4.36	4.36	0.52297	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.53938	D	0.000057	D	0.90789	0.7108	L	0.45285	1.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.92109	0.5694	10	0.87932	D	0	.	16.2293	0.82321	0.0:0.0:1.0:0.0	.	388;388	O95450-2;O95450	.;ATS2_HUMAN	S	388	ENSP00000251582:P388S;ENSP00000274609:P388S	ENSP00000251582:P388S	P	-	1	0	ADAMTS2	178514497	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	9.671000	0.98627	2.126000	0.65437	0.655000	0.94253	CCG		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		4	21	0	0	0	0.001984	0	4	21				
MAML1	9794	broad.mit.edu	37	5	179192504	179192504	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr5:179192504G>T	ENST00000292599.3	+	2	756	c.493G>T	c.(493-495)Gac>Tac	p.D165Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.D202Y(1)|p.D165Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTCAGTCTGACAAGCCTTC	0.597																																							uc003mkm.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)	6						c.(493-495)GAC>TAC		mastermind-like 1							35.0	39.0	38.0					5																	179192504		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192504G>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.493G>T	5.37:g.179192504G>T	ENSP00000292599:p.Asp165Tyr					MAML1_uc003mkn.1_Missense_Mutation_p.D165Y	p.D165Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	756	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	165						Missense_Mutation	SNP	ENST00000292599.3	37	c.493G>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545214	0.27652	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.42900	0.96	4.91	3.97	0.46021	.	0.327494	0.28677	N	0.014517	T	0.58764	0.2145	M	0.72894	2.215	0.38136	D	0.938293	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.974	T	0.64609	-0.6367	10	0.72032	D	0.01	-12.7403	8.3582	0.32342	0.0826:0.1575:0.7599:0.0	.	202;165	Q59GH4;Q92585	.;MAML1_HUMAN	Y	165;202	ENSP00000292599:D165Y	ENSP00000292599:D165Y	D	+	1	0	MAML1	179125110	1.000000	0.71417	0.904000	0.35570	0.136000	0.21042	4.827000	0.62723	2.256000	0.74724	0.462000	0.41574	GAC		0.597	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		12	58	1	0	3.07112e-06	0.000978	4.28198e-06	12	58				
SERPINB9	5272	broad.mit.edu	37	6	2890614	2890614	+	Missense_Mutation	SNP	G	G	A	rs202159163		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:2890614G>A	ENST00000380698.4	-	7	1003	c.914C>T	c.(913-915)gCg>gTg	p.A305V		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	305					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A305V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTCTCTCTCCGCTGACATTGC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		23239	0.001		0.0	False		,,,				2504	0.0						uc003mug.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(913-915)GCG>GTG		serpin peptidase inhibitor, clade B, member 9							113.0	104.0	107.0					6																	2890614		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2890614G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.914C>T	6.37:g.2890614G>A	ENSP00000370074:p.Ala305Val					uc003mue.2_Intron|SERPINB9_uc003muf.2_Missense_Mutation_p.A108V	p.A305V	NM_004155	NP_004146	P50453	SPB9_HUMAN			7	1035	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	305					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.914C>T	CCDS4478.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.88	1.475666	0.26511	.	.	ENSG00000170542	ENST00000380698	D	0.82984	-1.67	4.53	-0.869	0.10649	Serpin domain (3);	28.374500	0.00397	N	0.000044	T	0.57681	0.2070	L	0.46157	1.445	0.09310	N	1	B	0.23937	0.094	B	0.21708	0.036	T	0.40001	-0.9586	10	0.40728	T	0.16	.	1.7491	0.02968	0.2371:0.2321:0.4053:0.1255	.	305	P50453	SPB9_HUMAN	V	305	ENSP00000370074:A305V	ENSP00000370074:A305V	A	-	2	0	SERPINB9	2835613	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.913000	0.04042	-0.020000	0.14032	-0.993000	0.02533	GCG		0.498	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			16	103	0	0	0	0.003163	0	16	103				
LRRC16A	55604	broad.mit.edu	37	6	25600607	25600607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:25600607G>T	ENST00000329474.6	+	33	3553	c.3185G>T	c.(3184-3186)cGa>cTa	p.R1062L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1062	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.R1062L(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGAAAAAGCGAGATTCTCGG	0.438																																							uc011djw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						c.(3184-3186)CGA>CTA		leucine rich repeat containing 16A							73.0	72.0	72.0					6																	25600607		1860	4098	5958	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25600607G>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3185G>T	6.37:g.25600607G>T	ENSP00000331983:p.Arg1062Leu					LRRC16A_uc010jpx.2_Missense_Mutation_p.R1062L|LRRC16A_uc010jpy.2_Missense_Mutation_p.R1062L	p.R1062L	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN			33	3561	+			1062			Inhibits capping activity of CAPZA2 (By similarity).		B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3185G>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751937	0.89753	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.23348	1.91	5.2	5.2	0.72013	.	0.548933	0.17494	N	0.172249	T	0.37265	0.0997	M	0.65975	2.015	0.80722	D	1	D;D;D	0.60575	0.978;0.988;0.985	P;P;P	0.57101	0.785;0.785;0.813	T	0.14420	-1.0473	10	0.51188	T	0.08	.	18.7442	0.91787	0.0:0.0:1.0:0.0	.	1062;1062;1062	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	L	1062	ENSP00000331983:R1062L	ENSP00000331983:R1062L	R	+	2	0	LRRC16A	25708586	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.596000	0.67570	2.403000	0.81681	0.455000	0.32223	CGA		0.438	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		17	85	1	0	2.48551e-13	0.00499	4.1079e-13	17	85				
HIST1H3E	8353	broad.mit.edu	37	6	26225732	26225732	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:26225732G>A	ENST00000360408.1	+	1	350	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.R117H(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				CATGCCAAACGCGTGACCATC	0.557											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003nhb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CGC>CAC		histone cluster 1, H3f							98.0	98.0	98.0					6																	26225732		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225732G>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.350G>A	6.37:g.26225732G>A	ENSP00000353581:p.Arg117His		OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H3E_uc003nhc.3_Missense_Mutation_p.R117H	p.R117H	NM_021018	NP_066298	P68431	H31_HUMAN			2	710	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	117					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.350G>A	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	14.71	2.615288	0.46631	.	.	ENSG00000196966	ENST00000360408	T	0.68331	-0.32	4.54	4.54	0.55810	.	.	.	.	.	T	0.73560	0.3602	.	.	.	0.37852	D	0.929417	.	.	.	.	.	.	T	0.76982	-0.2757	6	0.62326	D	0.03	.	16.8198	0.85743	0.0:0.0:1.0:0.0	.	.	.	.	H	117	ENSP00000353581:R117H	ENSP00000353581:R117H	R	+	2	0	HIST1H3E	26333711	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	7.790000	0.85794	2.541000	0.85698	0.491000	0.48974	CGC		0.557	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		8	98	0	0	0	0.004482	0	8	98				
HIST1H4I	8294	broad.mit.edu	37	6	27107277	27107277	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:27107277G>A	ENST00000354348.2	+	1	202	c.190G>A	c.(190-192)Gag>Aag	p.E64K	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E64K(1)		lung(1)	1						GGTGTTCCTGGAGAACGTGAT	0.652			T	BCL6	NHL																																		uc003niy.1		NA		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(190-192)GAG>AAG		histone cluster 1, H4i							80.0	74.0	76.0					6																	27107277		2203	4300	6503	SO:0001583	missense	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107277G>A	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.190G>A	6.37:g.27107277G>A	ENSP00000346316:p.Glu64Lys					HIST1H2BK_uc003nix.1_Intron	p.E64K	NM_003495	NP_003486	P62805	H4_HUMAN			1	190	+			64		E -> Q (in a breast cancer sample; somatic mutation).			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	c.190G>A	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	36	5.744136	0.96882	.	.	ENSG00000198339	ENST00000354348	T	0.70869	-0.52	3.8	3.8	0.43715	.	0.000000	0.41294	U	0.000917	T	0.71281	0.3321	M	0.62723	1.935	0.53688	D	0.999972	.	.	.	.	.	.	T	0.74777	-0.3550	8	0.54805	T	0.06	.	13.9996	0.64424	0.0:0.0:1.0:0.0	.	.	.	.	K	64	ENSP00000346316:E64K	ENSP00000346316:E64K	E	+	1	0	HIST1H4I	27215256	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.868000	0.92320	2.068000	0.61886	0.655000	0.94253	GAG		0.652	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		17	57	0	0	0	0.004007	0	17	57				
HIST1H4I	8294	broad.mit.edu	37	6	27107279	27107279	+	Silent	SNP	G	G	A	rs150377743	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:27107279G>A	ENST00000354348.2	+	1	204	c.192G>A	c.(190-192)gaG>gaA	p.E64E	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	64			E -> Q (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.E64E(1)		lung(1)	1						TGTTCCTGGAGAACGTGATCC	0.657			T	BCL6	NHL																																		uc003niy.1		NA		Dom	yes		6	6p21.3	8294	T	"""histone 1, H4i (H4FM)"""			L	BCL6		NHL		1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(190-192)GAG>GAA		histone cluster 1, H4i		G	,	2,4404		0,2,2201	80.0	74.0	76.0		192,	2.0	1.0	6	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,intron	HIST1H4I,HIST1H2BK	NM_003495.2,NM_080593.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	64/104,	27107279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8294				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27107279G>A	AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.192G>A	6.37:g.27107279G>A						HIST1H2BK_uc003nix.1_Intron	p.E64E	NM_003495	NP_003486	P62805	H4_HUMAN			1	192	+			64		E -> Q (in a breast cancer sample; somatic mutation).			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000354348.2	37	c.192G>A	CCDS4620.1																																																																																				0.657	HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495		17	60	0	0	0	0.004007	0	17	60				
GPX6	257202	broad.mit.edu	37	6	28483474	28483474	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:28483474A>G	ENST00000474923.1	-	1	90	c.47T>C	c.(46-48)gTt>gCt	p.V16A	GPX6_ENST00000361902.1_Missense_Mutation_p.V16A|GPX6_ENST00000483058.1_Intron			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	16					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)	p.V16A(1)		NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	AGCAAAGCCAACCAGGAAAAA	0.542																																							uc011dlj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|skin(1)	5						c.(46-48)GTT>GCT		glutathione peroxidase 6 precursor	Glutathione(DB00143)						88.0	101.0	97.0					6																	28483474		1974	4160	6134	SO:0001583	missense	257202				response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28483474A>G		CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.47T>C	6.37:g.28483474A>G	ENSP00000417364:p.Val16Ala					GPX6_uc010jrg.1_RNA	p.V16A	NM_182701	NP_874360	P59796	GPX6_HUMAN			1	97	-			16					Q4PJ17	Missense_Mutation	SNP	ENST00000474923.1	37	c.47T>C		.	.	.	.	.	.	.	.	.	.	A	0.027	-1.359599	0.01245	.	.	ENSG00000198704	ENST00000361902;ENST00000474923	T;T	0.10005	4.32;2.92	3.31	-2.55	0.06288	.	0.817423	0.10156	N	0.709026	T	0.00906	0.0030	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47086	-0.9144	10	0.02654	T	1	.	4.8115	0.13345	0.3258:0.2019:0.4724:0.0	.	16	P59796	GPX6_HUMAN	A	16	ENSP00000354581:V16A;ENSP00000417364:V16A	ENSP00000354581:V16A	V	-	2	0	GPX6	28591453	0.000000	0.05858	0.010000	0.14722	0.090000	0.18270	-0.465000	0.06680	-0.541000	0.06257	0.533000	0.62120	GTT		0.542	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	protein_coding	OTTHUMT00000356246.5			5	36	0	0	0	0.001984	0	5	36				
OR12D2	26529	broad.mit.edu	37	6	29365221	29365221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:29365221C>G	ENST00000383555.2	+	1	806	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L249V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGTAGTTATTCTTTTCTATGC	0.443																																							uc003nmf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(745-747)CTT>GTT		olfactory receptor, family 12, subfamily D,							218.0	214.0	216.0					6																	29365221		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365221C>G		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.745C>G	6.37:g.29365221C>G	ENSP00000373047:p.Leu249Val						p.L249V	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	806	+			249			Helical; Name=6; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.745C>G	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420747	0.25639	.	.	ENSG00000168787	ENST00000383555	T	0.00265	8.39	3.94	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000216	T	0.00144	0.0004	M	0.67700	2.07	0.09310	N	1	P	0.51537	0.946	P	0.59595	0.86	T	0.36480	-0.9746	10	0.52906	T	0.07	.	6.48	0.22057	0.0:0.5558:0.275:0.1692	.	249	P58182	O12D2_HUMAN	V	249	ENSP00000373047:L249V	ENSP00000373047:L249V	L	+	1	0	OR12D2	29473200	0.000000	0.05858	0.002000	0.10522	0.350000	0.29205	-0.686000	0.05161	0.314000	0.23086	0.205000	0.17691	CTT		0.443	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			33	181	0	0	0	0.003271	0	33	181				
DDR1	780	broad.mit.edu	37	6	30862315	30862315	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:30862315G>A	ENST00000324771.8	+	13	1928	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	DDR1_ENST00000376575.3_Silent_p.T460T|DDR1_ENST00000376568.3_Silent_p.T460T|DDR1_ENST00000376567.2_Silent_p.T460T|DDR1_ENST00000376570.4_Silent_p.T460T|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Silent_p.T460T|DDR1_ENST00000513240.1_Silent_p.T460T|DDR1_ENST00000508312.1_Silent_p.T478T|DDR1_ENST00000418800.2_Silent_p.T460T|DDR1_ENST00000454612.2_Silent_p.T460T|DDR1_ENST00000452441.1_Silent_p.T460T			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	460					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T460T(2)|p.T459T(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGAGCTGACGGTTCACCTCT	0.627																																							uc003nrr.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(1378-1380)ACG>ACA		discoidin domain receptor family, member 1	Imatinib(DB00619)						142.0	124.0	130.0					6																	30862315		2203	4300	6503	SO:0001819	synonymous_variant	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30862315G>A	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1380G>A	6.37:g.30862315G>A						DDR1_uc010jse.2_Silent_p.T460T|DDR1_uc003nrq.2_Silent_p.T460T|DDR1_uc003nrs.2_Silent_p.T460T|DDR1_uc003nrt.2_Silent_p.T460T|DDR1_uc011dms.1_Silent_p.T478T|DDR1_uc003nru.2_Silent_p.T460T|DDR1_uc003nrv.2_Silent_p.T460T|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank	p.T460T	NM_013993	NP_054699	Q08345	DDR1_HUMAN			12	1639	+			460			Cytoplasmic (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Silent	SNP	ENST00000324771.8	37	c.1380G>A	CCDS34385.1																																																																																				0.627	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		5	60	0	0	0	0.000602	0	5	60				
POU5F1	5460	broad.mit.edu	37	6	31133041	31133041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:31133041A>G	ENST00000259915.8	-	4	752	c.680T>C	c.(679-681)gTg>gCg	p.V227A	POU5F1_ENST00000471529.2_Missense_Mutation_p.V31A|POU5F1_ENST00000512818.1_Missense_Mutation_p.V31A|POU5F1_ENST00000513407.1_Missense_Mutation_p.V31A|POU5F1_ENST00000606567.1_Missense_Mutation_p.V57A|POU5F1_ENST00000441888.3_Missense_Mutation_p.V31A	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	227				V -> L (in Ref. 8; CAA79974). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|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)	p.V227A(1)	EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	TCGGGCCTGCACGAGGGTTTC	0.537			T	EWSR1	sarcoma																																		uc003nsv.2		NA		Dom	yes		6	6p21.31	5460	T	"""POU domain, class 5, transcription factor 1"""			M	EWSR1		sarcoma	EWSR1/POU5F1(10)	1	Substitution - Missense(1)		lung(1)	skin(7)|salivary_gland(2)|bone(2)|lung(1)|ovary(1)	13						c.(679-681)GTG>GCG		POU domain, class 5, transcription factor 1							45.0	29.0	35.0					6																	31133041		1511	2708	4219	SO:0001583	missense	5460				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr6:31133041A>G	Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.680T>C	6.37:g.31133041A>G	ENSP00000259915:p.Val227Ala					POU5F1_uc003nsu.2_Missense_Mutation_p.V132A|uc011dnf.1_5'Flank	p.V227A	NM_002701	NP_002692	Q01860	PO5F1_HUMAN			4	734	-			227	V -> L (in Ref. 7; CAA79974).				A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	ENST00000259915.8	37	c.680T>C	CCDS34391.1	.	.	.	.	.	.	.	.	.	.	A	3.094	-0.186271	0.06340	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	T;T;T;T	0.78364	-1.17;-1.13;-1.17;-1.17	5.91	4.64	0.57946	Homeodomain-related (1);	0.834724	0.10089	N	0.717474	T	0.37652	0.1011	N	0.11927	0.2	0.19945	N	0.999948	B;B	0.21452	0.001;0.056	B;B	0.17722	0.001;0.019	T	0.16748	-1.0392	10	0.20046	T	0.44	.	5.9262	0.19114	0.7577:0.0:0.0846:0.1577	.	227;132	Q01860;D2IYK4	PO5F1_HUMAN;.	A	132;31;227;31;31	ENSP00000425479:V31A;ENSP00000259915:V227A;ENSP00000389359:V31A;ENSP00000425083:V31A	ENSP00000259915:V227A	V	-	2	0	POU5F1	31241020	0.252000	0.23972	0.936000	0.37596	0.835000	0.47333	1.088000	0.30877	2.256000	0.74724	0.519000	0.50382	GTG		0.537	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701		4	15	0	0	0	0.00308	0	4	15				
EHMT2	10919	broad.mit.edu	37	6	31857313	31857313	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:31857313C>G	ENST00000375537.4	-	8	937	c.931G>C	c.(931-933)Gaa>Caa	p.E311Q	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000395728.3_Missense_Mutation_p.E368Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.E311Q|EHMT2_ENST00000375528.4_Missense_Mutation_p.E368Q	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311	Poly-Glu.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.E311Q(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						tcttcctcttcttcttcttcc	0.493																																							uc003nxz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(931-933)GAA>CAA		euchromatic histone-lysine N-methyltransferase 2							138.0	117.0	124.0					6																	31857313		1511	2709	4220	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31857313C>G	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.931G>C	6.37:g.31857313C>G	ENSP00000364687:p.Glu311Gln					EHMT2_uc003nxy.1_Missense_Mutation_p.E102Q|EHMT2_uc011don.1_Missense_Mutation_p.E368Q|EHMT2_uc003nya.1_Missense_Mutation_p.E311Q	p.E311Q	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN			8	941	-			311			Poly-Glu.		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.931G>C	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293326	0.60086	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	5.19	5.19	0.71726	.	0.398680	0.21695	N	0.070507	T	0.04137	0.0115	N	0.08118	0	0.34582	D	0.714547	D;D;D;P	0.61697	0.982;0.99;0.982;0.9	P;P;P;B	0.50192	0.528;0.634;0.528;0.289	T	0.50642	-0.8804	10	0.23891	T	0.37	.	14.2076	0.65744	0.0:1.0:0.0:0.0	.	368;311;311;125	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	Q	368;368;311;311;125	ENSP00000379078:E368Q;ENSP00000364678:E368Q;ENSP00000364680:E311Q;ENSP00000364687:E311Q	ENSP00000364678:E368Q	E	-	1	0	EHMT2	31965292	0.876000	0.30132	0.094000	0.20943	0.904000	0.53231	3.763000	0.55257	2.422000	0.82143	0.491000	0.48974	GAA		0.493	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	71	0	0	0	0.004672	0	3	71				
C6orf10	10665	broad.mit.edu	37	6	32261492	32261493	+	Missense_Mutation	DNP	CC	CC	TT	rs530604728		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:32261492_32261493CC>TT	ENST00000447241.2	-	23	1129_1130	c.957_958GG>AA	c.(955-960)caGGga>caAAga	p.G320R	C6orf10_ENST00000375015.4_Missense_Mutation_p.G319R|C6orf10_ENST00000527965.1_Missense_Mutation_p.G304R|C6orf10_ENST00000375007.4_Missense_Mutation_p.G318R|C6orf10_ENST00000533191.1_Missense_Mutation_p.G318R|C6orf10_ENST00000442822.2_Missense_Mutation_p.G311R	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	320						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G320R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATTTGGGCTCCCTGTCCTTGTG	0.441																																							uc011dpy.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(955-960)CAGGGA>CAAAGA		chromosome 6 open reading frame 10																																				SO:0001583	missense	10665					integral to membrane		g.chr6:32261492_32261493CC>TT	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.957_958delinsTT	6.37:g.32261492_32261493delinsTT	ENSP00000415517:p.Gly320Arg					C6orf10_uc011dpx.1_Missense_Mutation_p.G102R	p.G320R	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN			12	1130_1131	-			320					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	DNP	ENST00000447241.2	37	c.957_958GG>AA	CCDS34422.1																																																																																				0.441	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		39	202	0	0	0	0.004672	0	39	202				
SRPK1	6732	broad.mit.edu	37	6	35837307	35837307	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:35837307A>C	ENST00000373825.2	-	11	1648	c.1363T>G	c.(1363-1365)Tgt>Ggt	p.C455G	SRPK1_ENST00000423325.2_Missense_Mutation_p.C439G|SRPK1_ENST00000373822.1_Missense_Mutation_p.C348G					SRSF protein kinase 1									p.C455G(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TCATCTTCACAGGGTATCTCT	0.463																																					NSCLC(31;67 978 16289 24856 26454)	NSCLC(31;67 978 16289 24856 26454)	uc003olj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1363-1365)TGT>GGT		SFRS protein kinase 1							271.0	258.0	262.0					6																	35837307		2010	4182	6192	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35837307A>C	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1363T>G	6.37:g.35837307A>C	ENSP00000362931:p.Cys455Gly					SRPK1_uc011dtg.1_Missense_Mutation_p.C439G|SRPK1_uc003olh.2_Missense_Mutation_p.C348G|SRPK1_uc003oli.2_Missense_Mutation_p.C348G	p.C455G	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			11	1486	-			455			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.1363T>G	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	A	8.847	0.943592	0.18281	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822	T;T;T;T	0.26810	1.71;1.71;1.71;1.77	5.12	5.12	0.69794	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.33084	D	0.537064	B;B	0.13594	0.001;0.008	B;B	0.14023	0.004;0.01	T	0.25012	-1.0144	9	0.23302	T	0.38	-4.9853	13.8209	0.63320	1.0:0.0:0.0:0.0	.	439;455	B4DS61;Q96SB4	.;SRPK1_HUMAN	G	455;471;439;348	ENSP00000362931:C455G;ENSP00000354674:C471G;ENSP00000391069:C439G;ENSP00000362928:C348G	ENSP00000354674:C471G	C	-	1	0	SRPK1	35945285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.601000	0.46249	2.058000	0.61347	0.533000	0.62120	TGT		0.463	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137		14	149	0	0	0	0.00245	0	14	149				
MAPK14	1432	broad.mit.edu	37	6	36075268	36075268	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:36075268C>G	ENST00000229794.4	+	11	1266	c.878C>G	c.(877-879)tCa>tGa	p.S293*	MAPK14_ENST00000229795.3_Nonsense_Mutation_p.S293*|MAPK14_ENST00000310795.4_Missense_Mutation_p.Q267E|MAPK14_ENST00000468133.1_Nonsense_Mutation_p.S216*	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.S293*(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GTATTGGACTCAGATAAGAGA	0.438																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	uc003olp.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(877-879)TCA>TGA		mitogen-activated protein kinase 14 isoform 1							169.0	162.0	164.0					6																	36075268		2203	4300	6503	SO:0001587	stop_gained	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36075268C>G	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.878C>G	6.37:g.36075268C>G	ENSP00000229794:p.Ser293*					MAPK14_uc003olq.2_Nonsense_Mutation_p.S293*|MAPK14_uc003olr.2_Missense_Mutation_p.Q267E|MAPK14_uc011dti.1_Nonsense_Mutation_p.S216*	p.S293*	NM_001315	NP_001306	Q16539	MK14_HUMAN			11	1359	+			293			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Nonsense_Mutation	SNP	ENST00000229794.4	37	c.878C>G	CCDS4816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.965099|6.965099	0.97967|0.97967	.|.	.|.	ENSG00000112062|ENSG00000112062	ENST00000310795|ENST00000229795;ENST00000229794;ENST00000468133	T|.	0.13196|.	2.61|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.064498	.|0.64402	.|D	.|0.000012	T|.	0.47097|.	0.1427|.	.|.	.|.	.|.	0.20489|0.20489	N|N	0.999892|0.999892	B|.	0.14012|.	0.009|.	B|.	0.13407|.	0.009|.	T|.	0.47674|.	-0.9099|.	8|.	0.54805|0.87932	T|D	0.06|0	-5.3539|-5.3539	15.8507|15.8507	0.78927|0.78927	0.0:0.8651:0.1349:0.0|0.0:0.8651:0.1349:0.0	.|.	267|.	Q16539-4|.	.|.	E|X	267|293;293;216	ENSP00000308669:Q267E|.	ENSP00000308669:Q267E|ENSP00000229794:S293X	Q|S	+|+	1|2	0|0	MAPK14|MAPK14	36183246|36183246	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.216000|3.216000	0.51176|0.51176	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.438	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		7	151	0	0	0	0.00308	0	7	151				
TREM1	54210	broad.mit.edu	37	6	41250404	41250404	+	Silent	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:41250404T>C	ENST00000244709.4	-	2	198	c.135A>G	c.(133-135)ctA>ctG	p.L45L	TREM1_ENST00000589614.1_Silent_p.L45L|TREM1_ENST00000334475.6_Silent_p.L45L|TREM1_ENST00000591620.1_Silent_p.L45L	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	45	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.L45L(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAAACTTCTCTAGCGTGTAGT	0.478																																							uc003oqf.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(133-135)CTA>CTG		triggering receptor expressed on myeloid cells 1	Glutathione(DB00143)						131.0	132.0	132.0					6																	41250404		2203	4300	6503	SO:0001819	synonymous_variant	54210				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	g.chr6:41250404T>C	AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.135A>G	6.37:g.41250404T>C						TREM1_uc003oqg.1_Silent_p.L45L	p.L45L	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN			2	199	-	Ovarian(28;0.0327)|Colorectal(47;0.196)		45			Extracellular (Potential).|Ig-like V-type.		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Silent	SNP	ENST00000244709.4	37	c.135A>G	CCDS4854.1																																																																																				0.478	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040505.2	NM_018643		17	148	0	0	0	0.00499	0	17	148				
PPP2R5D	5528	broad.mit.edu	37	6	42957397	42957397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:42957397A>T	ENST00000485511.1	+	2	255	c.76A>T	c.(76-78)Aag>Tag	p.K26*	PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.K26*|PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.K26*|PPP2R5D_ENST00000461010.1_Intron	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	26					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.K26*(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGCTCGGGCAAGGATGGTGG	0.537																																					Melanoma(63;587 1613 29742 31770)	Melanoma(63;587 1613 29742 31770)	uc003oth.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(76-78)AAG>TAG		delta isoform of regulatory subunit B56, protein							76.0	70.0	72.0					6																	42957397		2203	4300	6503	SO:0001587	stop_gained	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42957397A>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.76A>T	6.37:g.42957397A>T	ENSP00000417963:p.Lys26*					MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Nonsense_Mutation_p.K26*|PPP2R5D_uc010jyd.2_Intron|PPP2R5D_uc011dva.1_Intron|PPP2R5D_uc003oti.2_5'UTR	p.K26*	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		2	162	+			26					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Nonsense_Mutation	SNP	ENST00000485511.1	37	c.76A>T	CCDS4878.1	.	.	.	.	.	.	.	.	.	.	A	37	6.177595	0.97352	.	.	ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610	.	.	.	5.93	5.93	0.95920	.	25.233700	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.6271	12.7861	0.57507	1.0:0.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000230402:K26X	K	+	1	0	PPP2R5D	43065375	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.504000	0.60414	2.281000	0.76405	0.533000	0.62120	AAG		0.537	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		5	21	0	0	0	0.000602	0	5	21				
MAD2L1BP	9587	broad.mit.edu	37	6	43604174	43604174	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:43604174G>C	ENST00000372171.4	+	2	160	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	MAD2L1BP_ENST00000508232.1_3'UTR|MAD2L1BP_ENST00000451025.2_Missense_Mutation_p.E67Q	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	35					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E35Q(1)		breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGAACTACTTGAGACAAGCTC	0.488																																							uc003ovv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GAG>CAG		MAD2L1 binding protein isoform 2							104.0	97.0	99.0					6																	43604174		2203	4300	6503	SO:0001583	missense	9587				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	g.chr6:43604174G>C	BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.103G>C	6.37:g.43604174G>C	ENSP00000361244:p.Glu35Gln					MAD2L1BP_uc003ovu.2_Missense_Mutation_p.E67Q	p.E35Q	NM_014628	NP_055443	Q15013	MD2BP_HUMAN	all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		2	139	+	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		35					B4DLV3|E9PAT7|Q6IBB1	Missense_Mutation	SNP	ENST00000372171.4	37	c.103G>C	CCDS4904.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314247	0.81358	.	.	ENSG00000124688	ENST00000451025;ENST00000372171	T	0.13657	2.57	5.68	3.8	0.43715	.	0.469266	0.19377	N	0.115755	T	0.03348	0.0097	N	0.19112	0.55	0.09310	N	1	P;P	0.38711	0.643;0.611	B;B	0.41036	0.328;0.346	T	0.35871	-0.9771	10	0.29301	T	0.29	-1.1015	7.1397	0.25548	0.0905:0.1723:0.7372:0.0	.	35;67	Q15013;E9PAT7	MD2BP_HUMAN;.	Q	67;35	ENSP00000410818:E67Q	ENSP00000361244:E35Q	E	+	1	0	MAD2L1BP	43712152	0.925000	0.31364	0.165000	0.22776	0.572000	0.35998	1.964000	0.40462	1.420000	0.47138	0.561000	0.74099	GAG		0.488	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040692.2	NM_014628		4	68	0	0	0	0.000602	0	4	68				
PKHD1	5314	broad.mit.edu	37	6	51890383	51890383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:51890383C>A	ENST00000371117.3	-	32	4500	c.4225G>T	c.(4225-4227)Gtg>Ttg	p.V1409L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1409L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1409	IPT/TIG 9.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.V1409L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACCCCCTCACAGTAAGTATG	0.498																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4225-4227)GTG>TTG		fibrocystin isoform 1							102.0	105.0	104.0					6																	51890383		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890383C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.4225G>T	6.37:g.51890383C>A	ENSP00000360158:p.Val1409Leu					PKHD1_uc003pai.2_Missense_Mutation_p.V1409L	p.V1409L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4501	-	Lung NSC(77;0.0605)		1409			IPT/TIG 9.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4225G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	6.838	0.523763	0.13066	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83992	-1.79;-1.79	5.69	2.93	0.34026	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.445469	0.21113	N	0.079942	T	0.69513	0.3119	M	0.72118	2.19	0.09310	N	1	P;P	0.41710	0.548;0.76	B;B	0.41440	0.269;0.357	T	0.60647	-0.7222	10	0.37606	T	0.19	.	8.2603	0.31781	0.0:0.6237:0.0:0.3763	.	1409;1409	P08F94-2;P08F94	.;PKHD1_HUMAN	L	1409	ENSP00000360158:V1409L;ENSP00000341097:V1409L	ENSP00000341097:V1409L	V	-	1	0	PKHD1	51998342	0.104000	0.21937	0.258000	0.24420	0.114000	0.19823	0.416000	0.21198	0.761000	0.33130	0.655000	0.94253	GTG		0.498	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		29	117	1	0	8.58068e-18	0.007291	1.51297e-17	29	117				
MCM3	4172	broad.mit.edu	37	6	52149468	52149468	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:52149468G>A	ENST00000229854.7	-	1	81	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MCM3_ENST00000596288.1_Missense_Mutation_p.A47V|MCM3_ENST00000419835.2_5'UTR			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	2					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.A2V(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CACGGTACCCGCCATGCCCGC	0.647																																							uc003pan.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(4-6)GCG>GTG		minichromosome maintenance complex component 3							30.0	30.0	30.0					6																	52149468		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52149468G>A	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.5C>T	6.37:g.52149468G>A	ENSP00000229854:p.Ala2Val					MCM3_uc011dwu.1_5'UTR	p.A2V	NM_002388	NP_002379	P25205	MCM3_HUMAN			1	115	-	Lung NSC(77;0.0931)		2					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.5C>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.061553	0.76187	.	.	ENSG00000112118	ENST00000229854	T	0.02395	4.31	5.12	5.12	0.69794	.	0.152506	0.64402	D	0.000015	T	0.02848	0.0085	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.65874	0.939	T	0.71547	-0.4560	10	0.30078	T	0.28	-17.302	18.7515	0.91818	0.0:0.0:1.0:0.0	.	2	P25205	MCM3_HUMAN	V	2	ENSP00000229854:A2V	ENSP00000229854:A2V	A	-	2	0	MCM3	52257427	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.868000	0.69605	2.667000	0.90743	0.655000	0.94253	GCG		0.647	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			4	7	0	0	0	0.000602	0	4	7				
KHDRBS2	202559	broad.mit.edu	37	6	62757886	62757886	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:62757886C>A	ENST00000281156.4	-	3	511	c.233G>T	c.(232-234)gGg>gTg	p.G78V		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	78	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.G78V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCAATTTCCCCACAAAATT	0.363																																							uc003peg.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(3)|liver(1)	11						c.(232-234)GGG>GTG		KH domain-containing, RNA-binding, signal							116.0	110.0	112.0					6																	62757886		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62757886C>A	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.233G>T	6.37:g.62757886C>A	ENSP00000281156:p.Gly78Val						p.G78V	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	3	480	-			78			KH.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.233G>T	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407662	0.83340	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.48522	0.81	5.05	5.05	0.67936	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.77618	0.4157	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85800	0.1373	10	0.87932	D	0	-2.722	18.7644	0.91866	0.0:1.0:0.0:0.0	.	78	Q5VWX1	KHDR2_HUMAN	V	78	ENSP00000281156:G78V	ENSP00000281156:G78V	G	-	2	0	KHDRBS2	62815845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.491000	0.84063	0.460000	0.39030	GGG		0.363	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		10	69	1	0	0.000442599	0.006214	0.000568287	10	69				
EPB41L2	2037	broad.mit.edu	37	6	131277563	131277563	+	Silent	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:131277563A>G	ENST00000337057.3	-	2	244	c.63T>C	c.(61-63)gaT>gaC	p.D21D	EPB41L2_ENST00000368128.2_Silent_p.D21D|EPB41L2_ENST00000529208.1_Silent_p.D21D|EPB41L2_ENST00000530481.1_Silent_p.D21D|EPB41L2_ENST00000525271.1_Silent_p.D21D|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527659.1_Silent_p.D21D|EPB41L2_ENST00000528282.1_Silent_p.D21D|EPB41L2_ENST00000445890.2_Silent_p.D21D|EPB41L2_ENST00000525193.1_Silent_p.D21D|EPB41L2_ENST00000527411.1_Silent_p.D21D|EPB41L2_ENST00000392427.3_Silent_p.D21D	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	21					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.D21D(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTTGGTTGCATCTGTTCCTA	0.438																																							uc003qch.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(61-63)GAT>GAC		erythrocyte membrane protein band 4.1-like 2							118.0	107.0	111.0					6																	131277563		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131277563A>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.63T>C	6.37:g.131277563A>G						EPB41L2_uc003qcg.1_Silent_p.D21D|EPB41L2_uc011eby.1_Silent_p.D21D|EPB41L2_uc003qci.2_Silent_p.D21D|EPB41L2_uc010kfk.2_Silent_p.D21D|EPB41L2_uc010kfl.1_Silent_p.D21D	p.D21D	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	2	245	-	Breast(56;0.0639)		21					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.63T>C	CCDS5141.1																																																																																				0.438	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			5	76	0	0	0	0.000602	0	5	76				
BCLAF1	9774	broad.mit.edu	37	6	136582513	136582513	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:136582513T>A	ENST00000531224.1	-	12	2899	c.2647A>T	c.(2647-2649)Agc>Tgc	p.S883C	BCLAF1_ENST00000530767.1_Missense_Mutation_p.S710C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S834C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S881C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S832C|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S101C|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S832C|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	883					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.S883C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAGGACTGCTACCTGATTTT	0.433																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2647-2649)AGC>TGC		BCL2-associated transcription factor 1 isoform							232.0	233.0	233.0					6																	136582513		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136582513T>A	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.2647A>T	6.37:g.136582513T>A	ENSP00000435210:p.Ser883Cys					BCLAF1_uc011edb.1_Missense_Mutation_p.S162C|BCLAF1_uc003qgw.1_Missense_Mutation_p.S710C|BCLAF1_uc003qgy.1_Missense_Mutation_p.S832C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.S881C	p.S883C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	12	2900	-	Colorectal(23;0.24)		883					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2647A>T	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.93|18.93	3.727926|3.727926	0.69074|0.69074	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348|ENST00000534762	T;T;T;T;T;T;T|.	0.48522|.	4.16;4.16;4.16;2.38;4.16;0.81;4.16|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.140779|.	0.50627|.	D|.	0.000101|.	T|.	0.37433|.	0.1003|.	N|N	0.19112|0.19112	0.55|0.55	0.37784|0.37784	D|D	0.927116|0.927116	D;D;D;D;D|.	0.89917|.	0.997;1.0;0.998;0.997;0.994|.	P;D;P;P;D|.	0.75484|.	0.753;0.971;0.85;0.753;0.986|.	T|.	0.37033|.	-0.9723|.	10|.	0.72032|.	D|.	0.01|.	-0.4247|-0.4247	15.604|15.604	0.76649|0.76649	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	881;162;832;883;710|.	Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4|.	.;.;.;BCLF1_HUMAN;.|.	C|L	883;832;834;710;881;101;832|149	ENSP00000435210:S883C;ENSP00000229446:S832C;ENSP00000435441:S834C;ENSP00000436501:S710C;ENSP00000434826:S881C;ENSP00000031135:S101C;ENSP00000376159:S832C|.	ENSP00000031135:S101C|.	S|X	-|-	1|2	0|0	BCLAF1|BCLAF1	136624206|136624206	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.855000|4.855000	0.62925|0.62925	2.086000|2.086000	0.62901|0.62901	0.533000|0.533000	0.62120|0.62120	AGC|TAG		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		37	348	0	0	0	0.005524	0	37	348				
BCLAF1	9774	broad.mit.edu	37	6	136589341	136589341	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:136589341A>G	ENST00000531224.1	-	10	2608	c.2356T>C	c.(2356-2358)Tac>Cac	p.Y786H	BCLAF1_ENST00000530767.1_Missense_Mutation_p.Y613H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Y786H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Y784H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Y784H|BCLAF1_ENST00000031135.9_Missense_Mutation_p.Y4H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Y784H|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	786					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.Y786H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCCTGAGTATTCTTTCATT	0.383																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2356-2358)TAC>CAC		BCL2-associated transcription factor 1 isoform							204.0	188.0	194.0					6																	136589341		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136589341A>G	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.2356T>C	6.37:g.136589341A>G	ENSP00000435210:p.Tyr786His					BCLAF1_uc011edb.1_Missense_Mutation_p.Y114H|BCLAF1_uc003qgw.1_Missense_Mutation_p.Y613H|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y784H|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y784H	p.Y786H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	10	2609	-	Colorectal(23;0.24)		786					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.2356T>C	CCDS5177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.271977|4.271977	0.80469|0.80469	.|.	.|.	ENSG00000029363|ENSG00000029363	ENST00000534762|ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000031135;ENST00000392348	.|T;T;T;T;T;T;T	.|0.48836	.|2.47;2.47;2.47;2.47;2.47;0.8;2.47	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.56097	.|D	.|0.000039	T|T	0.54983|0.54983	0.1892|0.1892	L|L	0.48642|0.48642	1.525|1.525	0.50039|0.50039	D|D	0.999842|0.999842	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;0.999;0.997	.|D;D;D;D;D	.|0.87578	.|0.994;0.998;0.994;0.994;0.986	T|T	0.60840|0.60840	-0.7183|-0.7183	5|10	.|0.87932	.|D	.|0	-4.1373|-4.1373	15.6011|15.6011	0.76626|0.76626	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|784;114;784;786;613	.|Q9NYF8-2;B7Z8J9;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.|.;.;.;BCLF1_HUMAN;.	T|H	52|786;784;786;613;784;4;784	.|ENSP00000435210:Y786H;ENSP00000229446:Y784H;ENSP00000435441:Y786H;ENSP00000436501:Y613H;ENSP00000434826:Y784H;ENSP00000031135:Y4H;ENSP00000376159:Y784H	.|ENSP00000031135:Y4H	I|Y	-|-	2|1	0|0	BCLAF1|BCLAF1	136631034|136631034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.472000|7.472000	0.80996|0.80996	2.103000|2.103000	0.63969|0.63969	0.397000|0.397000	0.26171|0.26171	ATA|TAC		0.383	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	174	0	0	0	0.008291	0	9	174				
MIOS	54468	broad.mit.edu	37	7	7636007	7636007	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:7636007C>T	ENST00000340080.4	+	11	2737	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	MIOS_ENST00000405785.1_Silent_p.V772V	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	772						lysosomal membrane (GO:0005765)		p.V772V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATCTAAAGTCACAAGTTGTC	0.458																																							uc003srf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2314-2316)GTC>GTT		missing oocyte, meiosis regulator, homolog							192.0	183.0	185.0					7																	7636007		1974	4153	6127	SO:0001819	synonymous_variant	54468							g.chr7:7636007C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2316C>T	7.37:g.7636007C>T						MIOS_uc003srg.2_Silent_p.V307V|MIOS_uc010ktq.2_Silent_p.V167V	p.V772V	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			11	2624	+			772					B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	ENST00000340080.4	37	c.2316C>T	CCDS43554.1																																																																																				0.458	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		15	133	0	0	0	0.00499	0	15	133				
DGKB	1607	broad.mit.edu	37	7	14217662	14217662	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:14217662A>C	ENST00000403951.2	-	24	2659	c.2240T>G	c.(2239-2241)gTc>gGc	p.V747G	DGKB_ENST00000444700.2_Missense_Mutation_p.V728G|DGKB_ENST00000258767.5_Missense_Mutation_p.V747G|DGKB_ENST00000407950.1_Missense_Mutation_p.V739G|DGKB_ENST00000402815.1_Missense_Mutation_p.V746G|DGKB_ENST00000399322.3_Missense_Mutation_p.V747G|DGKB_ENST00000406247.3_Missense_Mutation_p.V747G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	747					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.V747G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CTACCTGATGACCACGCAGGA	0.498																																							uc003ssz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2239-2241)GTC>GGC		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						51.0	58.0	55.0					7																	14217662		2084	4268	6352	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14217662A>C	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2240T>G	7.37:g.14217662A>C	ENSP00000385780:p.Val747Gly					DGKB_uc011jxt.1_Missense_Mutation_p.V728G|DGKB_uc003sta.2_Missense_Mutation_p.V747G|DGKB_uc011jxu.1_Missense_Mutation_p.V746G	p.V747G	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			23	2427	-			747					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2240T>G	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	A	12.41	1.928704	0.34002	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.8	5.8	0.92144	Diacylglycerol kinase, accessory domain (2);	0.217808	0.39407	N	0.001367	T	0.34164	0.0888	L	0.60067	1.865	0.80722	D	1	B;B;B;B	0.26120	0.095;0.061;0.142;0.125	B;B;B;B	0.29440	0.102;0.062;0.062;0.053	T	0.06991	-1.0796	10	0.32370	T	0.25	.	15.8026	0.78468	1.0:0.0:0.0:0.0	.	746;728;747;747	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	G	747;747;747;746;739;728;747	ENSP00000385780:V747G;ENSP00000382260:V747G;ENSP00000258767:V747G;ENSP00000384909:V746G;ENSP00000385031:V739G;ENSP00000388451:V728G;ENSP00000386066:V747G	ENSP00000258767:V747G	V	-	2	0	DGKB	14184187	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	4.998000	0.63927	2.211000	0.71520	0.459000	0.35465	GTC		0.498	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		12	76	0	0	0	0.001368	0	12	76				
CLK2P1	1197	broad.mit.edu	37	7	23625596	23625596	+	IGR	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:23625596G>C								TRA2A (53936 upstream) : CCDC126 (11401 downstream)																							CATTCTTAATGATCTTCAGGG	0.493																																							uc003swk.2		NA																	0					0						c.(-101--97)ATCAT>ATGAT		SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2;																																				SO:0001628	intergenic_variant	1197							g.chr7:23625596G>C																													7.37:g.23625596G>C								NR_002711						1	551	-									Translation_Start_Site	SNP		37	c.-99C>G																																																																																				0	0.493									9	47	0	0	0	0.008291	0	9	47				
AEBP1	165	broad.mit.edu	37	7	44149642	44149642	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:44149642C>A	ENST00000223357.3	+	10	1484	c.1179C>A	c.(1177-1179)caC>caA	p.H393Q	AEBP1_ENST00000454218.1_3'UTR|MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	393	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.|Required for DNA-binding and interaction with NFKBIA. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.H393Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGTCACACCGTATTGAGG	0.627																																							uc003tkb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)CAC>CAA		adipocyte enhancer binding protein 1 precursor							60.0	52.0	55.0					7																	44149642		2203	4300	6503	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44149642C>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.1179C>A	7.37:g.44149642C>A	ENSP00000223357:p.His393Gln					AEBP1_uc003tkc.3_5'Flank|AEBP1_uc003tkd.2_5'Flank	p.H393Q	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN			10	1484	+			393			Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.1179C>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455947	0.63401	.	.	ENSG00000106624	ENST00000223357	D	0.97161	-4.27	5.05	0.958	0.19619	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	L	0.39467	1.215	0.80722	D	1	D	0.65815	0.995	P	0.62014	0.897	D	0.93184	0.6577	10	0.62326	D	0.03	-53.2421	4.9909	0.14214	0.138:0.4688:0.0:0.3932	.	393	Q8IUX7	AEBP1_HUMAN	Q	393	ENSP00000223357:H393Q	ENSP00000223357:H393Q	H	+	3	2	AEBP1	44116167	0.007000	0.16637	0.996000	0.52242	0.980000	0.70556	-1.026000	0.03596	0.466000	0.27193	-0.367000	0.07326	CAC		0.627	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	33	1	0	3.07112e-06	0.000978	4.28198e-06	8	33				
PKD1L1	168507	broad.mit.edu	37	7	47970755	47970755	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:47970755C>A	ENST00000289672.2	-	6	733	c.683G>T	c.(682-684)aGc>aTc	p.S228I		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	228					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.S228I(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCGCTGGGAGCTGGTCTGAGT	0.612																																							uc003tny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(682-684)AGC>ATC		polycystin-1L1							58.0	59.0	59.0					7																	47970755		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47970755C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.683G>T	7.37:g.47970755C>A	ENSP00000289672:p.Ser228Ile						p.S228I	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			6	683	-			228			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.683G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.257577	0.22965	.	.	ENSG00000158683	ENST00000289672	T	0.23754	1.89	3.16	3.16	0.36331	.	6.913280	0.00166	N	0.000016	T	0.27933	0.0688	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.55055	0.767	T	0.46884	-0.9159	10	0.54805	T	0.06	.	10.1334	0.42693	0.0:1.0:0.0:0.0	.	228	Q8TDX9	PK1L1_HUMAN	I	228	ENSP00000289672:S228I	ENSP00000289672:S228I	S	-	2	0	PKD1L1	47937280	0.000000	0.05858	0.120000	0.21714	0.063000	0.16089	0.123000	0.15708	2.079000	0.62486	0.585000	0.79938	AGC		0.612	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		9	50	1	0	0.00448238	0.004482	0.00553089	9	50				
ZPBP	11055	broad.mit.edu	37	7	50070835	50070835	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:50070835T>A	ENST00000046087.2	-	5	628	c.559A>T	c.(559-561)Aat>Tat	p.N187Y	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.N186Y	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	187					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)		p.N187Y(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AAAGAAATATTATAAATGCTA	0.343																																							uc003tou.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)AAT>TAT		zona pellucida binding protein isoform 1							42.0	46.0	45.0					7																	50070835		2203	4299	6502	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50070835T>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.559A>T	7.37:g.50070835T>A	ENSP00000046087:p.Asn187Tyr					ZPBP_uc011kci.1_Missense_Mutation_p.N113Y|ZPBP_uc010kyw.2_Missense_Mutation_p.N186Y	p.N187Y	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			5	629	-	Glioma(55;0.08)|all_neural(89;0.245)		187					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.559A>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.715032	0.68844	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.61859	0.07;0.07	5.25	5.25	0.73442	.	0.088702	0.49305	D	0.000147	T	0.76097	0.3940	M	0.80183	2.485	0.42950	D	0.994373	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78821	-0.2053	9	.	.	.	-23.6866	13.6791	0.62472	0.0:0.0:0.0:1.0	.	186;187	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	Y	187;186	ENSP00000046087:N187Y;ENSP00000402071:N186Y	.	N	-	1	0	ZPBP	50041381	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.515000	0.60489	2.104000	0.64026	0.533000	0.62120	AAT		0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009		10	73	0	0	0	0.000978	0	10	73				
LANCL2	55915	broad.mit.edu	37	7	55496113	55496113	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:55496113C>G	ENST00000254770.2	+	8	1809	c.1231C>G	c.(1231-1233)Cct>Gct	p.P411A		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	411					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.P411A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GTGCCGCATTCCTGACAGACC	0.443																																							uc003tqp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1231-1233)CCT>GCT		LanC lantibiotic synthetase component C-like 2							97.0	96.0	96.0					7																	55496113		2203	4300	6503	SO:0001583	missense	55915				negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	g.chr7:55496113C>G	AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1231C>G	7.37:g.55496113C>G	ENSP00000254770:p.Pro411Ala						p.P411A	NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)		8	1809	+	Breast(14;0.0379)		411					B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	ENST00000254770.2	37	c.1231C>G	CCDS5517.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477139	0.84640	.	.	ENSG00000132434	ENST00000254770	T	0.46451	0.87	4.98	4.98	0.66077	.	0.054480	0.85682	D	0.000000	T	0.53302	0.1788	M	0.72894	2.215	0.80722	D	1	P	0.34934	0.476	P	0.44732	0.459	T	0.51505	-0.8697	10	0.34782	T	0.22	.	16.9843	0.86336	0.0:1.0:0.0:0.0	.	411	Q9NS86	LANC2_HUMAN	A	411	ENSP00000254770:P411A	ENSP00000254770:P411A	P	+	1	0	LANCL2	55463607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.200000	0.77838	2.555000	0.86185	0.655000	0.94253	CCT		0.443	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251459.1	NM_018697		11	56	0	0	0	0.001368	0	11	56				
GSAP	54103	broad.mit.edu	37	7	76984630	76984630	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:76984630A>G	ENST00000257626.7	-	16	1316	c.1238T>C	c.(1237-1239)tTa>tCa	p.L413S		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	413					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.L413S(1)									AAGCTGTAATAAAGACGACTG	0.507																																							uc003ugf.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1237-1239)TTA>TCA		pigeon homolog							100.0	104.0	103.0					7																	76984630		2203	4300	6503	SO:0001583	missense	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76984630A>G		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1238T>C	7.37:g.76984630A>G	ENSP00000257626:p.Leu413Ser					PION_uc003ugg.1_Missense_Mutation_p.L198S	p.L413S	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			16	1317	-			413					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1238T>C	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	A	13.57	2.277628	0.40294	.	.	ENSG00000186088	ENST00000257626	T	0.47869	0.83	5.76	5.76	0.90799	.	0.000000	0.51477	U	0.000082	T	0.67163	0.2864	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.70835	-0.4764	10	0.87932	D	0	.	13.6102	0.62074	1.0:0.0:0.0:0.0	.	413;413	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	S	413	ENSP00000257626:L413S	ENSP00000257626:L413S	L	-	2	0	PION	76822566	0.227000	0.23707	0.003000	0.11579	0.024000	0.10985	5.694000	0.68272	2.202000	0.70862	0.533000	0.62120	TTA		0.507	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		16	121	0	0	0	0.007413	0	16	121				
SAMD9L	219285	broad.mit.edu	37	7	92764239	92764239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:92764239G>A	ENST00000318238.4	-	5	2262	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S349F|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S349F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	349					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.S349F(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATATCCCTAGAGCTAGCCCC	0.348																																							uc003umh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1045-1047)TCT>TTT		sterile alpha motif domain containing 9-like							121.0	130.0	127.0					7																	92764239		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92764239G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1046C>T	7.37:g.92764239G>A	ENSP00000326247:p.Ser349Phe					SAMD9L_uc003umj.1_Missense_Mutation_p.S349F|SAMD9L_uc003umi.1_Missense_Mutation_p.S349F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S349F|SAMD9L_uc003umk.1_Missense_Mutation_p.S349F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S349F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S349F|SAMD9L_uc011khx.1_Intron	p.S349F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2262	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		349					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1046C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659204	0.47467	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.14266	2.52;2.52;2.52	4.74	3.85	0.44370	.	0.292414	0.28754	N	0.014253	T	0.33644	0.0870	M	0.66939	2.045	0.35953	D	0.834022	D	0.69078	0.997	D	0.65874	0.939	T	0.49753	-0.8906	10	0.87932	D	0	-8.1634	14.7145	0.69257	0.0:0.146:0.854:0.0	.	349	Q8IVG5	SAM9L_HUMAN	F	349	ENSP00000326247:S349F;ENSP00000405760:S349F;ENSP00000408796:S349F	ENSP00000326247:S349F	S	-	2	0	SAMD9L	92602175	0.003000	0.15002	0.901000	0.35422	0.785000	0.44390	1.311000	0.33562	1.202000	0.43218	0.460000	0.39030	TCT		0.348	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		6	211	0	0	0	0.001168	0	6	211				
CDHR3	222256	broad.mit.edu	37	7	105662817	105662817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:105662817C>G	ENST00000317716.9	+	14	2079	c.1999C>G	c.(1999-2001)Ctt>Gtt	p.L667V	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Missense_Mutation_p.L579V|CDHR3_ENST00000542731.1_Missense_Mutation_p.L667V	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	667	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L667V(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCGGAGGCTCTTGTTGAGAC	0.473																																							uc003vdl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1999-2001)CTT>GTT		hypothetical protein LOC222256 precursor							207.0	197.0	200.0					7																	105662817		2001	4178	6179	SO:0001583	missense	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105662817C>G	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1999C>G	7.37:g.105662817C>G	ENSP00000325954:p.Leu667Val					CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.L654V|CDHR3_uc011klt.1_Missense_Mutation_p.L579V|CDHR3_uc003vdn.2_Intron	p.L667V	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			14	2107	+			667			Cadherin 6.|Extracellular (Potential).		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.1999C>G	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	C	3.213	-0.161223	0.06502	.	.	ENSG00000128536	ENST00000542731;ENST00000317716;ENST00000478080	T;T;T	0.57436	0.45;0.45;0.4	5.39	3.56	0.40772	Cadherin (2);Cadherin-like (1);	0.740771	0.12688	N	0.447408	T	0.41673	0.1169	L	0.50333	1.59	0.26671	N	0.971737	B;B	0.18461	0.028;0.015	B;B	0.14578	0.011;0.011	T	0.30297	-0.9983	10	0.11485	T	0.65	-2.7869	7.9119	0.29796	0.1223:0.6824:0.0:0.1953	.	654;667	B3KYA0;Q6ZTQ4	.;CDHR3_HUMAN	V	667;667;579	ENSP00000439766:L667V;ENSP00000325954:L667V;ENSP00000417771:L579V	ENSP00000325954:L667V	L	+	1	0	CDHR3	105450053	0.952000	0.32445	0.998000	0.56505	0.284000	0.27059	0.552000	0.23376	1.417000	0.47077	-0.150000	0.13652	CTT		0.473	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		14	180	0	0	0	0.00245	0	14	180				
HYAL4	23553	broad.mit.edu	37	7	123508376	123508376	+	Missense_Mutation	SNP	G	G	T	rs200113405		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:123508376G>T	ENST00000223026.4	+	3	687	c.49G>T	c.(49-51)Gta>Tta	p.V17L	HYAL4_ENST00000476325.1_Missense_Mutation_p.V17L	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	17					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.V17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TGTTCAACCAGTACATCTCAC	0.343																																							uc003vlc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(49-51)GTA>TTA		hyaluronoglucosaminidase 4							127.0	135.0	132.0					7																	123508376		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508376G>T	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.49G>T	7.37:g.123508376G>T	ENSP00000223026:p.Val17Leu					HYAL4_uc011knz.1_Missense_Mutation_p.V17L	p.V17L	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			3	687	+			17			Helical; (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.49G>T	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	8.525	0.869571	0.17322	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.16457	2.34;2.34	5.2	-5.51	0.02568	.	0.691224	0.13924	N	0.353371	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40739	-0.9547	10	0.14656	T	0.56	-1.6605	7.4618	0.27300	0.1898:0.0:0.5232:0.287	.	17;17	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	L	17	ENSP00000223026:V17L;ENSP00000417186:V17L	ENSP00000223026:V17L	V	+	1	0	HYAL4	123295612	0.000000	0.05858	0.053000	0.19242	0.793000	0.44817	-0.358000	0.07641	-0.639000	0.05502	0.655000	0.94253	GTA		0.343	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		24	157	1	0	6.36457e-07	0.003954	9.28289e-07	24	157				
AKR1B10	57016	broad.mit.edu	37	7	134222989	134222989	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:134222989C>A	ENST00000359579.4	+	8	1105	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	262					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)	p.P262H(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ATTGTCATCCCCAAGTCTGTG	0.522																																							uc003vrr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)	5						c.(784-786)CCC>CAC		aldo-keto reductase family 1, member B10							248.0	220.0	230.0					7																	134222989		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134222989C>A	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.785C>A	7.37:g.134222989C>A	ENSP00000352584:p.Pro262His						p.P262H	NM_020299	NP_064695	O60218	AK1BA_HUMAN			8	1105	+			262			NADP.		A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.785C>A	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	-	19.09	3.759899	0.69763	.	.	ENSG00000198074	ENST00000359579	T	0.28454	1.61	4.53	4.53	0.55603	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.053245	0.85682	D	0.000000	T	0.74921	0.3780	H	0.99689	4.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87590	0.2490	10	0.87932	D	0	.	16.6644	0.85248	0.0:1.0:0.0:0.0	.	262	O60218	AK1BA_HUMAN	H	262	ENSP00000352584:P262H	ENSP00000352584:P262H	P	+	2	0	AKR1B10	133873529	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.248000	0.78268	2.241000	0.73720	0.556000	0.70494	CCC		0.522	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		45	222	1	0	1.51926e-22	0.00361	2.73207e-22	45	222				
KIAA1549	57670	broad.mit.edu	37	7	138556069	138556069	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:138556069G>C	ENST00000422774.1	-	13	4433	c.4385C>G	c.(4384-4386)tCa>tGa	p.S1462*	KIAA1549_ENST00000242365.4_Nonsense_Mutation_p.S1412*|KIAA1549_ENST00000440172.1_Nonsense_Mutation_p.S1462*			Q9HCM3	K1549_HUMAN	KIAA1549	1462						integral component of membrane (GO:0016021)		p.S1462*(1)|p.S1412*(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATGGAGGCTGATGAGTGCTG	0.562			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(4384-4386)TCA>TGA		hypothetical protein LOC57670 isoform 1							49.0	59.0	56.0					7																	138556069		2066	4209	6275	SO:0001587	stop_gained	57670					integral to membrane		g.chr7:138556069G>C		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4385C>G	7.37:g.138556069G>C	ENSP00000416040:p.Ser1462*					KIAA1549_uc011kqi.1_Nonsense_Mutation_p.S246*|KIAA1549_uc003vuk.3_Nonsense_Mutation_p.S1412*|KIAA1549_uc011kqj.1_Nonsense_Mutation_p.S1462*|KIAA1549_uc011kqk.1_Nonsense_Mutation_p.S246*	p.S1462*	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			13	4434	-			1462					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Nonsense_Mutation	SNP	ENST00000422774.1	37	c.4385C>G	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	44	11.201343	0.99530	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.8161	0.88634	0.0:0.0:1.0:0.0	.	.	.	.	X	1462;1412;1462	.	ENSP00000242365:S1412X	S	-	2	0	KIAA1549	138206609	1.000000	0.71417	0.781000	0.31783	0.926000	0.56050	9.263000	0.95617	2.676000	0.91093	0.655000	0.94253	TCA		0.562	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	73	0	0	0	0.001984	0	7	73				
TAS2R3	50831	broad.mit.edu	37	7	141464496	141464496	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:141464496C>G	ENST00000247879.2	+	1	600	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	180					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L180V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					TGAGTATTATCTGATCCATGT	0.478																																							uc003vwp.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(538-540)CTG>GTG		taste receptor T2R3							148.0	132.0	138.0					7																	141464496		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464496C>G	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.538C>G	7.37:g.141464496C>G	ENSP00000247879:p.Leu180Val						p.L180V	NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN			1	600	+	Melanoma(164;0.0171)		180			Extracellular (Potential).		A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.538C>G	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754983	0.31046	.	.	ENSG00000127362	ENST00000247879	T	0.37915	1.17	6.04	-6.0	0.02206	.	1.539810	0.03962	N	0.290228	T	0.22859	0.0552	N	0.17764	0.52	0.09310	N	1	B	0.14805	0.011	B	0.22152	0.038	T	0.29640	-1.0005	10	0.27082	T	0.32	.	10.6233	0.45493	0.0:0.1389:0.5713:0.2898	.	180	Q9NYW6	TA2R3_HUMAN	V	180	ENSP00000247879:L180V	ENSP00000247879:L180V	L	+	1	2	TAS2R3	141110965	0.000000	0.05858	0.001000	0.08648	0.921000	0.55340	-1.765000	0.01799	-0.504000	0.06577	0.563000	0.77884	CTG		0.478	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			17	53	0	0	0	0.006122	0	17	53				
EPHB6	2051	broad.mit.edu	37	7	142563293	142563293	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:142563293G>A	ENST00000392957.2	+	8	1797	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	EPHB6_ENST00000411471.2_Missense_Mutation_p.R60H|EPHB6_ENST00000442129.1_Missense_Mutation_p.R337H	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	337	Cys-rich.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.R322H(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCCCTGCCCGCAGTCACGCT	0.667																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1009-1011)CGC>CAC		ephrin receptor EphB6 precursor							49.0	47.0	47.0					7																	142563293		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142563293G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1010G>A	7.37:g.142563293G>A	ENSP00000376684:p.Arg337His					EPHB6_uc011ksu.1_Missense_Mutation_p.R337H|EPHB6_uc003wbs.2_Missense_Mutation_p.R45H|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.R45H|EPHB6_uc003wbv.2_5'Flank	p.R337H	NM_004445	NP_004436	O15197	EPHB6_HUMAN			8	1797	+	Melanoma(164;0.059)		337			Extracellular (Potential).|Cys-rich.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1010G>A	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	1.266	-0.614425	0.03663	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.15256	2.44;2.44;2.44	5.43	3.63	0.41609	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.146651	0.32068	N	0.006640	T	0.06462	0.0166	N	0.10629	0.0099999999999999	0.34478	D	0.703538	B	0.31859	0.343	B	0.32211	0.142	T	0.30387	-0.9980	10	0.02654	T	1	.	6.9856	0.24727	0.3413:0.0:0.6587:0.0	.	337	O15197	EPHB6_HUMAN	H	337;337;60	ENSP00000376684:R337H;ENSP00000410789:R337H;ENSP00000409061:R60H	ENSP00000376684:R337H	R	+	2	0	EPHB6	142273415	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	3.090000	0.50191	0.663000	0.31027	0.561000	0.74099	CGC		0.667	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			10	35	0	0	0	0.000978	0	10	35				
TAS2R39	259285	broad.mit.edu	37	7	142881181	142881181	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:142881181T>C	ENST00000446620.1	+	1	670	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	224					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.F224L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					TCTGATCATGTTCATCCTGAC	0.507																																							uc011ksw.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(670-672)TTC>CTC		taste receptor, type 2, member 39							136.0	125.0	129.0					7																	142881181		1989	4158	6147	SO:0001583	missense	259285				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142881181T>C	AF494230	CCDS47729.1	7q34	2012-08-22			ENSG00000236398	ENSG00000236398		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18886	protein-coding gene	gene with protein product						12379855	Standard	NM_176881		Approved		uc011ksw.2	P59534	OTTHUMG00000152636	ENST00000446620.1:c.670T>C	7.37:g.142881181T>C	ENSP00000405095:p.Phe224Leu						p.F224L	NM_176881	NP_795362	P59534	T2R39_HUMAN			1	670	+	Melanoma(164;0.059)		224			Helical; Name=5; (Potential).		A4FUI7|Q3ZCN6|Q645W4	Missense_Mutation	SNP	ENST00000446620.1	37	c.670T>C	CCDS47729.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842736	0.51057	.	.	ENSG00000236398	ENST00000446620	T	0.34072	1.38	4.45	3.25	0.37280	.	.	.	.	.	T	0.46386	0.1390	M	0.77406	2.37	0.09310	N	0.999998	P	0.48407	0.91	P	0.49999	0.628	T	0.34800	-0.9814	9	0.52906	T	0.07	.	6.755	0.23507	0.0:0.084:0.1541:0.7618	.	224	P59534	T2R39_HUMAN	L	224	ENSP00000405095:F224L	ENSP00000405095:F224L	F	+	1	0	TAS2R39	142591303	0.243000	0.23878	0.270000	0.24601	0.985000	0.73830	0.798000	0.27014	0.810000	0.34279	0.528000	0.53228	TTC		0.507	TAS2R39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327090.2	NM_176881		22	123	0	0	0	0.002299	0	22	123				
SSPO	23145	broad.mit.edu	37	7	149492429	149492429	+	RNA	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:149492429A>T	ENST00000378016.2	+	0	6318							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTCAGGGATGGCACGCTG	0.657																																							uc010lpk.2		NA																	0					0						c.(6316-6318)GGA>GGT		SCO-spondin precursor							16.0	19.0	18.0					7																	149492429		1975	4141	6116			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149492429A>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149492429A>T							p.G2106G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		43	6318	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2106			F5/8 type C.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.6318A>T																																																																																					0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	31	0	0	0	0.000248	0	4	31				
GIMAP1	170575	broad.mit.edu	37	7	150417566	150417566	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:150417566C>T	ENST00000307194.5	+	3	614	c.474C>T	c.(472-474)gcC>gcT	p.A158A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	158	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.A158A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGACCTGGCCGGGGGCTCCC	0.647																																							uc003whq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(472-474)GCC>GCT		GTPase, IMAP family member 1							59.0	61.0	60.0					7																	150417566		2203	4300	6503	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417566C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.474C>T	7.37:g.150417566C>T						GIMAP1_uc003whp.2_Silent_p.A166A	p.A158A	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	561	+			158			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.474C>T	CCDS5906.1																																																																																				0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		9	76	0	0	0	0.004482	0	9	76				
KMT2C	58508	broad.mit.edu	37	7	151876995	151876995	+	Missense_Mutation	SNP	C	C	T	rs527582568		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:151876995C>T	ENST00000262189.6	-	37	7584	c.7366G>A	c.(7366-7368)Gct>Act	p.A2456T	KMT2C_ENST00000355193.2_Missense_Mutation_p.A2456T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2456	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A2456T(2)									GGGAAAACAGCATATCTAGGT	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0					Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7366-7368)GCT>ACT		myeloid/lymphoid or mixed-lineage leukemia 3							140.0	129.0	133.0					7																	151876995		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151876995C>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.7366G>A	7.37:g.151876995C>T	ENSP00000262189:p.Ala2456Thr					MLL3_uc003wkz.2_Missense_Mutation_p.A1517T|MLL3_uc003wky.2_5'Flank	p.A2456T	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)	37	7585	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2456			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.7366G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370966	0.24771	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83419	-1.72;-1.69	5.5	1.18	0.20946	.	0.529678	0.15472	N	0.260547	T	0.63200	0.2491	N	0.16307	0.4	0.19575	N	0.999964	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.48258	-0.9051	10	0.35671	T	0.21	.	0.6564	0.00835	0.2143:0.3304:0.185:0.2703	.	2456;1517	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	2456	ENSP00000262189:A2456T;ENSP00000347325:A2456T	ENSP00000262189:A2456T	A	-	1	0	MLL3	151507928	0.000000	0.05858	0.028000	0.17463	0.935000	0.57460	-1.032000	0.03574	0.253000	0.21552	0.650000	0.86243	GCT		0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			16	104	0	0	0	0.004007	0	16	104				
C8orf74	203076	broad.mit.edu	37	8	10555137	10555137	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:10555137C>A	ENST00000304519.5	+	3	299	c.270C>A	c.(268-270)atC>atA	p.I90I	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	90								p.I90I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CTGTGACGATCCTGGGGAACA	0.582																																							uc003wtd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)ATC>ATA		hypothetical protein LOC203076							99.0	107.0	104.0					8																	10555137		2063	4211	6274	SO:0001819	synonymous_variant	203076							g.chr8:10555137C>A	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.270C>A	8.37:g.10555137C>A						C8orf74_uc003wte.1_RNA	p.I90I	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	3	299	+			90					A2RUD6	Silent	SNP	ENST00000304519.5	37	c.270C>A	CCDS47800.1																																																																																				0.582	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		12	97	1	0	2.80697e-09	0.000978	4.37639e-09	12	97				
PIWIL2	55124	broad.mit.edu	37	8	22161574	22161574	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:22161574G>A	ENST00000454009.2	+	11	1731	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	PIWIL2_ENST00000521356.1_Missense_Mutation_p.E408K|PIWIL2_ENST00000356766.6_Missense_Mutation_p.E408K	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	408	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)	p.E408K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CTTCCAGGATGAGTGTACTAA	0.378																																							uc003xbn.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1222-1224)GAG>AAG		piwi-like 2							157.0	136.0	143.0					8																	22161574		2203	4300	6503	SO:0001583	missense	55124				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	g.chr8:22161574G>A	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.1222G>A	8.37:g.22161574G>A	ENSP00000406956:p.Glu408Lys					PIWIL2_uc011kzf.1_Missense_Mutation_p.E408K|PIWIL2_uc010ltv.2_Missense_Mutation_p.E408K	p.E408K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN		Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)	11	1370	+			408			PAZ.		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	ENST00000454009.2	37	c.1222G>A	CCDS6029.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269040	0.80469	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.13307	2.6;2.6;2.6	5.78	5.78	0.91487	Argonaute/Dicer protein, PAZ (3);	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	L	0.39467	1.215	0.80722	D	1	B;B	0.26547	0.152;0.152	B;B	0.31016	0.08;0.123	T	0.04495	-1.0947	10	0.06099	T	0.92	-15.7158	19.1458	0.93467	0.0:0.0:1.0:0.0	.	408;408	E7ECA4;Q8TC59	.;PIWL2_HUMAN	K	408	ENSP00000349208:E408K;ENSP00000428267:E408K;ENSP00000406956:E408K	ENSP00000349208:E408K	E	+	1	0	PIWIL2	22217519	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.212000	0.95126	2.894000	0.99253	0.591000	0.81541	GAG		0.378	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375438.1			6	69	0	0	0	0.001984	0	6	69				
CSPP1	79848	broad.mit.edu	37	8	68070788	68070788	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:68070788A>C	ENST00000262210.5	+	18	2364	c.2333A>C	c.(2332-2334)gAg>gCg	p.E778A	CSPP1_ENST00000412460.1_Missense_Mutation_p.E433A|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	813					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.E778A(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATTCagcaggagtatgaagag	0.408																																							uc003xxi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2437-2439)GAG>GCG		centrosome spindle pole associated protein 1							55.0	53.0	54.0					8																	68070788		1849	4090	5939	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68070788A>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2333A>C	8.37:g.68070788A>C	ENSP00000262210:p.Glu778Ala					CSPP1_uc003xxg.1_Missense_Mutation_p.E805A|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E778A|CSPP1_uc003xxk.2_Missense_Mutation_p.E433A	p.E813A	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		20	2469	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	813			Glu-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.2438A>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.567191	0.45694	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.44482	0.92;1.11;1.11	5.17	5.17	0.71159	.	0.491413	0.20634	N	0.088535	T	0.34745	0.0908	N	0.19112	0.55	0.34256	D	0.679326	P;P;P;P	0.46142	0.873;0.873;0.873;0.873	P;B;B;B	0.47206	0.541;0.319;0.319;0.319	T	0.48175	-0.9058	10	0.37606	T	0.19	-2.1366	11.816	0.52211	0.8537:0.1462:0.0:0.0	.	433;778;813;813	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	A	778;813;433;433	ENSP00000262210:E778A;ENSP00000415782:E433A;ENSP00000430092:E433A	ENSP00000262210:E778A	E	+	2	0	CSPP1	68233342	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	3.145000	0.50623	2.063000	0.61619	0.460000	0.39030	GAG		0.408	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		5	16	0	0	0	0.001168	0	5	16				
DCAF4L2	138009	broad.mit.edu	37	8	88885671	88885671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:88885671G>T	ENST00000319675.3	-	1	625	c.529C>A	c.(529-531)Ctt>Att	p.L177I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	177								p.L177I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAACTGCAAAGCATGCCAGGC	0.572																																							uc003ydz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(529-531)CTT>ATT		WD repeat domain 21C							132.0	121.0	125.0					8																	88885671		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885671G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.529C>A	8.37:g.88885671G>T	ENSP00000316496:p.Leu177Ile						p.L177I	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	626	-			177						Missense_Mutation	SNP	ENST00000319675.3	37	c.529C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790886	0.31685	.	.	ENSG00000176566	ENST00000319675	T	0.67523	-0.27	1.21	1.21	0.21127	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.063315	0.64402	D	0.000004	T	0.69079	0.3071	M	0.70275	2.135	0.34795	D	0.736103	P	0.47350	0.894	P	0.52424	0.698	T	0.74134	-0.3763	10	0.66056	D	0.02	.	5.7019	0.17887	0.0:0.0:1.0:0.0	.	177	Q8NA75	DC4L2_HUMAN	I	177	ENSP00000316496:L177I	ENSP00000316496:L177I	L	-	1	0	DCAF4L2	88954787	1.000000	0.71417	0.224000	0.23877	0.060000	0.15804	1.923000	0.40055	0.619000	0.30197	0.467000	0.42956	CTT		0.572	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		11	117	1	0	0.00010058	0.001368	0.000132089	11	117				
KIAA1429	25962	broad.mit.edu	37	8	95507124	95507124	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:95507124T>A	ENST00000297591.5	-	20	4680	c.4605A>T	c.(4603-4605)ccA>ccT	p.P1535P	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1535					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P1535P(1)		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)			CAGCCTGAAATGGAGTGAACC	0.323																																							uc003ygo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(4603-4605)CCA>CCT		hypothetical protein LOC25962 isoform 1							140.0	149.0	146.0					8																	95507124		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507124T>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.4605A>T	8.37:g.95507124T>A						KIAA1429_uc010maz.1_RNA	p.P1535P	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4618	-	Breast(36;3.29e-05)		1535					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.4605A>T	CCDS34923.1																																																																																				0.323	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		41	156	0	0	0	0.002222	0	41	156				
PKHD1L1	93035	broad.mit.edu	37	8	110520333	110520333	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:110520333T>G	ENST00000378402.5	+	70	11339	c.11235T>G	c.(11233-11235)atT>atG	p.I3745M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3745					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.I3749M(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGAATTATTAGAGATTCAA	0.333										HNSCC(38;0.096)																													uc003yne.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(11233-11235)ATT>ATG		fibrocystin L precursor							96.0	91.0	93.0					8																	110520333		1815	4075	5890	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110520333T>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11235T>G	8.37:g.110520333T>G	ENSP00000367655:p.Ile3745Met	HNSCC(38;0.096)					p.I3745M	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		70	11339	+			3745			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.11235T>G	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080762	0.55753	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.87179	-2.22;-2.07	5.71	4.56	0.56223	.	0.060347	0.64402	D	0.000004	D	0.84474	0.5480	M	0.71581	2.175	0.26943	N	0.966198	P	0.40266	0.71	B	0.40009	0.316	T	0.79764	-0.1666	10	0.66056	D	0.02	.	5.1925	0.15216	0.1578:0.0838:0.0:0.7584	.	3745	Q86WI1	PKHL1_HUMAN	M	3745;673	ENSP00000367655:I3745M;ENSP00000437376:I673M	ENSP00000367655:I3745M	I	+	3	3	PKHD1L1	110589509	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.635000	0.24629	1.000000	0.39049	0.533000	0.62120	ATT		0.333	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	91	0	0	0	0.00308	0	6	91				
CSMD3	114788	broad.mit.edu	37	8	113299475	113299475	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:113299475C>A	ENST00000297405.5	-	58	9393	c.9149G>T	c.(9148-9150)gGt>gTt	p.G3050V	CSMD3_ENST00000455883.2_Splice_Site_p.G2881V|CSMD3_ENST00000352409.3_Splice_Site_p.G2980V|CSMD3_ENST00000343508.3_Splice_Site_p.G3010V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3050	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3010V(1)|p.G3050V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTAGCATCACCTGCAATGCA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9148-9150)GGT>GTT		CUB and Sushi multiple domains 3 isoform 1							92.0	86.0	88.0					8																	113299475		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113299475C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9149-1G>T	8.37:g.113299475C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2252V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3010V|CSMD3_uc011lhx.1_Missense_Mutation_p.G2881V	p.G3050V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9308	-			3050			Sushi 21.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9149G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837523	0.91117	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.26810	2.01;2.01;2.03;1.71;2.02	5.23	5.23	0.72850	Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.64746	0.2626	H	0.95539	3.685	0.80722	D	1	P;P;D	0.89917	0.916;0.92;1.0	P;P;D	0.81914	0.822;0.504;0.995	T	0.73285	-0.4031	10	0.41790	T	0.15	.	19.218	0.93785	0.0:1.0:0.0:0.0	.	2881;3050;3010	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3010;3050;2320;2881;2980	ENSP00000345799:G3010V;ENSP00000297405:G3050V;ENSP00000341558:G2320V;ENSP00000412263:G2881V;ENSP00000343124:G2980V	ENSP00000297405:G3050V	G	-	2	0	CSMD3	113368651	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.583000	0.82559	2.614000	0.88457	0.579000	0.79373	GGT		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	7	89	1	0	0.00198382	0.001984	0.00247684	7	89				
ADCY8	114	broad.mit.edu	37	8	131826459	131826459	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:131826459G>T	ENST00000286355.5	-	14	4861	c.2769C>A	c.(2767-2769)gcC>gcA	p.A923A	ADCY8_ENST00000377928.3_Silent_p.A792A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	923					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A923A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCCAGGCGGGCTGTGTACT	0.507										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2767-2769)GCC>GCA		adenylate cyclase 8							135.0	108.0	118.0					8																	131826459		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131826459G>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2769C>A	8.37:g.131826459G>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.A792A	p.A923A	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		14	3025	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		923			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.2769C>A	CCDS6363.1																																																																																				0.507	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			29	69	1	0	2.12542e-12	0.00632	3.4675e-12	29	69				
TRAPPC9	83696	broad.mit.edu	37	8	141262908	141262908	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr8:141262908C>A	ENST00000438773.2	-	16	2532	c.2399G>T	c.(2398-2400)tGc>tTc	p.C800F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.C791F|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.C898F	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	800					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.C898F(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTCTCCTGGCAGGAGAAATC	0.498																																							uc003yvj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2398-2400)TGC>TTC		trafficking protein particle complex 9 isoform							72.0	68.0	70.0					8																	141262908		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141262908C>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2399G>T	8.37:g.141262908C>A	ENSP00000405060:p.Cys800Phe					TRAPPC9_uc003yvh.2_Missense_Mutation_p.C898F|TRAPPC9_uc010mel.1_Missense_Mutation_p.C221F|TRAPPC9_uc003yvi.1_Missense_Mutation_p.C791F	p.C800F	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			16	2533	-			800					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2399G>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407938	0.62399	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.08	5.08	0.68730	.	0.106291	0.64402	D	0.000003	T	0.53769	0.1817	L	0.27053	0.805	0.50467	D	0.999879	P;D;P;P	0.57571	0.512;0.98;0.903;0.834	B;P;B;B	0.52217	0.129;0.693;0.435;0.107	T	0.44112	-0.9349	9	0.08599	T	0.76	.	18.6766	0.91531	0.0:1.0:0.0:0.0	.	898;800;791;898	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	F	898;791;800	.	ENSP00000373978:C791F	C	-	2	0	TRAPPC9	141332090	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.866000	0.75506	2.629000	0.89072	0.650000	0.86243	TGC		0.498	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		27	46	1	0	1.75199e-13	0.007291	2.91844e-13	27	46				
FAM154A	158297	broad.mit.edu	37	9	18950803	18950803	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:18950803C>T	ENST00000380534.4	-	2	450	c.171G>A	c.(169-171)cgG>cgA	p.R57R	FAM154A_ENST00000380530.1_Silent_p.R57R|FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000583128.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	57								p.R57R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TCTGGTACTCCCGCCTTGGCT	0.443																																							uc003zni.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(169-171)CGG>CGA		hypothetical protein LOC158297							198.0	183.0	188.0					9																	18950803		2203	4300	6503	SO:0001819	synonymous_variant	158297							g.chr9:18950803C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.171G>A	9.37:g.18950803C>T						FAM154A_uc010mip.1_5'UTR	p.R57R	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	2	449	-			57					Q5VY58	Silent	SNP	ENST00000380534.4	37	c.171G>A	CCDS6487.1																																																																																				0.443	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		28	115	0	0	0	0.008361	0	28	115				
PRUNE2	158471	broad.mit.edu	37	9	79318919	79318919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:79318919G>T	ENST00000376718.3	-	9	7733	c.7610C>A	c.(7609-7611)aCa>aAa	p.T2537K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2178K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2537					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.T2537K(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATTCTTCTCTGTACATCTTTC	0.383																																							uc010mpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(7609-7611)ACA>AAA		prune homolog 2							263.0	240.0	247.0					9																	79318919		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318919G>T	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.7610C>A	9.37:g.79318919G>T	ENSP00000365908:p.Thr2537Lys					PRUNE2_uc004akj.3_5'UTR|PRUNE2_uc010mpl.1_5'UTR	p.T2537K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			9	7734	-			2537					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7610C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.195|0.195	-1.050242|-1.050242	0.01981|0.01981	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.44482|.	0.92;0.92|.	6.08|6.08	-0.278|-0.278	0.12894|0.12894	.|.	1.264330|.	0.05225|.	N|.	0.509168|.	T|.	0.20129|.	0.0484|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	B|.	0.10296|.	0.003|.	B|.	0.08055|.	0.003|.	T|.	0.23119|.	-1.0197|.	10|.	0.52906|.	T|.	0.07|.	1.0444|1.0444	0.7704|0.7704	0.01023|0.01023	0.4269:0.1729:0.2259:0.1744|0.4269:0.1729:0.2259:0.1744	.|.	2537|.	Q8WUY3|.	PRUN2_HUMAN|.	K|X	2537;2178;2536|1858	ENSP00000365908:T2537K;ENSP00000397425:T2178K|.	ENSP00000365908:T2537K|.	T|Y	-|-	2|3	0|2	PRUNE2|PRUNE2	78508739|78508739	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.133000|0.133000	0.20885|0.20885	0.253000|0.253000	0.18296|0.18296	0.038000|0.038000	0.15604|0.15604	0.655000|0.655000	0.94253|0.94253	ACA|TAC		0.383	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		48	255	1	0	3.21987e-24	0.00361	5.85683e-24	48	255				
TLR4	7099	broad.mit.edu	37	9	120475379	120475379	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:120475379G>T	ENST00000355622.6	+	3	1074	c.973G>T	c.(973-975)Gac>Tac	p.D325Y	TLR4_ENST00000394487.4_Missense_Mutation_p.D285Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	325					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.D325Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AAGGGTAAAAGACTTTTCTTA	0.313																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(973-975)GAC>TAC		toll-like receptor 4 precursor							64.0	72.0	69.0					9																	120475379		2203	4299	6502	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475379G>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.973G>T	9.37:g.120475379G>T	ENSP00000363089:p.Asp325Tyr					TLR4_uc004bka.2_Missense_Mutation_p.D285Y|TLR4_uc004bkb.2_Missense_Mutation_p.D125Y	p.D325Y	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1264	+			325			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.973G>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097243	0.20552	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.22539	1.95;1.95	5.78	-8.24	0.01029	.	2.722420	0.00859	N	0.001907	T	0.11281	0.0275	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13764	-1.0497	10	0.26408	T	0.33	.	3.1666	0.06538	0.5089:0.1956:0.1495:0.146	.	325	O00206	TLR4_HUMAN	Y	285;325	ENSP00000377997:D285Y;ENSP00000363089:D325Y	ENSP00000363089:D325Y	D	+	1	0	TLR4	119515200	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.479000	0.02327	-1.903000	0.01093	-0.140000	0.14226	GAC		0.313	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		16	67	1	0	6.31663e-08	0.003163	9.56561e-08	16	67				
RABEPK	10244	broad.mit.edu	37	9	127990243	127990243	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:127990243A>G	ENST00000373538.3	+	6	891	c.581A>G	c.(580-582)cAt>cGt	p.H194R	RABEPK_ENST00000394125.4_Missense_Mutation_p.H194R|RABEPK_ENST00000259460.8_Missense_Mutation_p.H143R|RABEPK_ENST00000394124.4_3'UTR	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	194					receptor-mediated endocytosis (GO:0006898)|vesicle docking involved in exocytosis (GO:0006904)	endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)		p.H194R(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TCTCCCCGGCATGGTCATGTG	0.458																																							uc004bpi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(580-582)CAT>CGT		Rab9 effector protein with kelch motifs							86.0	82.0	83.0					9																	127990243		2203	4300	6503	SO:0001583	missense	10244				receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane		g.chr9:127990243A>G	BC000503	CCDS6862.1, CCDS55341.1	9q33.1-q33.3	2010-04-19			ENSG00000136933	ENSG00000136933			16896	protein-coding gene	gene with protein product		605962				9230071	Standard	NM_005833		Approved	RAB9P40, bA65N13.1	uc004bpi.3	Q7Z6M1	OTTHUMG00000020674	ENST00000373538.3:c.581A>G	9.37:g.127990243A>G	ENSP00000362639:p.His194Arg					RABEPK_uc004bpj.2_Missense_Mutation_p.H143R|RABEPK_uc004bpk.2_Missense_Mutation_p.H194R|RABEPK_uc004bpl.1_Missense_Mutation_p.H143R|RABEPK_uc004bpm.2_Missense_Mutation_p.H194R	p.H194R	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN			7	754	+			194			Kelch 3.		A8K403|O00568|Q69YR2|Q6FHA4|Q6IBG7|Q6P092|Q86Y76|Q9BWB1	Missense_Mutation	SNP	ENST00000373538.3	37	c.581A>G	CCDS6862.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196378	0.78902	.	.	ENSG00000136933	ENST00000394125;ENST00000259460;ENST00000373538	T;T;T	0.61859	0.07;0.07;0.07	5.24	5.24	0.73138	Kelch-type beta propeller (1);	0.046010	0.85682	D	0.000000	T	0.64170	0.2574	L	0.48986	1.54	0.80722	D	1	P;D;P	0.62365	0.659;0.991;0.659	B;P;B	0.58130	0.332;0.833;0.332	T	0.59112	-0.7515	10	0.18276	T	0.48	-14.9908	14.6238	0.68605	1.0:0.0:0.0:0.0	.	194;143;194	A8K403;Q7Z6M1-2;Q7Z6M1	.;.;RABEK_HUMAN	R	194;143;194	ENSP00000377683:H194R;ENSP00000259460:H143R;ENSP00000362639:H194R	ENSP00000259460:H143R	H	+	2	0	RABEPK	127030064	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.400000	0.90200	2.240000	0.73641	0.524000	0.50904	CAT		0.458	RABEPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054064.1	NM_005833		18	52	0	0	0	0.008871	0	18	52				
CIZ1	25792	broad.mit.edu	37	9	130941408	130941408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:130941408G>A	ENST00000393608.1	-	8	1280	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000372938.5_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000357558.5_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000277465.4_Nonsense_Mutation_p.Q360*|CIZ1_ENST00000325721.8_Nonsense_Mutation_p.Q331*|CIZ1_ENST00000372954.1_Nonsense_Mutation_p.Q336*|CIZ1_ENST00000541172.1_Nonsense_Mutation_p.Q259*|CIZ1_ENST00000372948.3_Nonsense_Mutation_p.Q360*	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	360	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q360*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ggctgcacctgcttctgttgc	0.602																																							uc004btt.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1078-1080)CAG>TAG		CDKN1A interacting zinc finger protein 1 isoform							41.0	39.0	40.0					9																	130941408		2203	4300	6503	SO:0001587	stop_gained	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130941408G>A	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1078C>T	9.37:g.130941408G>A	ENSP00000377232:p.Gln360*					CIZ1_uc004btr.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004bts.2_Nonsense_Mutation_p.Q331*|CIZ1_uc011maq.1_Nonsense_Mutation_p.Q355*|CIZ1_uc004btu.2_Nonsense_Mutation_p.Q336*|CIZ1_uc011mar.1_Nonsense_Mutation_p.Q259*|CIZ1_uc011mas.1_Nonsense_Mutation_p.Q390*|CIZ1_uc004btw.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btv.2_Nonsense_Mutation_p.Q360*|CIZ1_uc004btx.2_Nonsense_Mutation_p.Q336*	p.Q360*	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN			8	1241	-			360			Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Nonsense_Mutation	SNP	ENST00000393608.1	37	c.1078C>T	CCDS6894.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.937748	0.92458	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372941;ENST00000372948;ENST00000372938;ENST00000415526	.	.	.	2.86	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.6969	11.9531	0.52966	0.0:0.0:1.0:0.0	.	.	.	.	X	336;360;360;360;331;327;259;360;336;360;360;282	.	ENSP00000277465:Q360X	Q	-	1	0	CIZ1	129981229	0.998000	0.40836	0.021000	0.16686	0.532000	0.34746	3.710000	0.54860	1.908000	0.55244	0.462000	0.41574	CAG		0.602	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		12	34	0	0	0	0.001368	0	12	34				
TUBBP5	643224	broad.mit.edu	37	9	141071340	141071340	+	RNA	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:141071340G>A	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5																		TTCCAGGGTCGCATGCCCATG	0.542																																							uc004com.2		NA																	0					0						c.(742-744)CGC>CAC		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071340G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071340G>A						TUBBP5_uc010ncq.2_3'UTR	p.R248H							4	1004	+									Missense_Mutation	SNP	ENST00000503395.1	37	c.743G>A																																																																																					0.542	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	78	0	0	0	0.004482	0	4	78				
IL3RA	3563	broad.mit.edu	37	X	1460679	1460679	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:1460679G>T	ENST00000331035.4	+	2	370	c.21G>T	c.(19-21)acG>acT	p.T7T	IL3RA_ENST00000381469.2_Silent_p.T7T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	7					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.T7T(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGGCTCACGCTGCTCCTGA	0.607																																							uc004cps.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(19-21)ACG>ACT		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						219.0	179.0	193.0					X																	1460679		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1460679G>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.21G>T	X.37:g.1460679G>T						IL3RA_uc011mhd.1_Silent_p.T7T	p.T7T	NM_002183	NP_002174	P26951	IL3RA_HUMAN			2	370	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	7					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.21G>T	CCDS14113.1																																																																																				0.607	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			14	145	1	0	2.62699e-14	0.003163	4.42256e-14	14	145				
ASB11	140456	broad.mit.edu	37	X	15311352	15311352	+	Missense_Mutation	SNP	C	C	T	rs376376953		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:15311352C>T	ENST00000480796.1	-	4	510	c.460G>A	c.(460-462)Gga>Aga	p.G154R	ASB11_ENST00000380470.3_Missense_Mutation_p.G137R|ASB11_ENST00000344384.4_Missense_Mutation_p.G133R|ASB11_ENST00000537676.1_Missense_Mutation_p.G133R			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	154					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G133R(1)|p.G154R(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCCTTGGCTCCGAACTCCAGC	0.552																																							uc004cwp.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|skin(1)	3						c.(460-462)GGA>AGA		ankyrin repeat and SOCS box-containing protein			ARG/GLY,ARG/GLY,ARG/GLY	1,3834		0,1,1631,571	192.0	155.0	168.0		460,409,397	5.3	1.0	X		168	0,6728		0,0,2428,1872	no	missense,missense,missense	ASB11	NM_080873.2,NM_001201583.1,NM_001012428.2	125,125,125	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	benign,benign,benign	154/324,137/307,133/303	15311352	1,10562	2203	4300	6503	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15311352C>T	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.460G>A	X.37:g.15311352C>T	ENSP00000417914:p.Gly154Arg					ASB11_uc004cwo.1_Missense_Mutation_p.G133R|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.G137R	p.G154R	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			4	460	-	Hepatocellular(33;0.183)		154			ANK 3.		E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.460G>A	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	c	12.15	1.853038	0.32699	2.61E-4	0.0	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.35	5.35	0.76521	Ankyrin repeat-containing domain (4);	0.086015	0.50627	D	0.000111	T	0.66752	0.2821	M	0.89214	3.015	0.48185	D	0.999603	P;B;P	0.48230	0.907;0.427;0.581	B;B;B	0.40659	0.336;0.047;0.068	T	0.74919	-0.3500	10	0.66056	D	0.02	-8.0923	10.8502	0.46765	0.0:0.9118:0.0:0.0882	.	137;154;133	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	R	133;137;133;154	ENSP00000445465:G133R;ENSP00000369837:G137R;ENSP00000343408:G133R;ENSP00000417914:G154R	ENSP00000343408:G133R	G	-	1	0	ASB11	15221273	1.000000	0.71417	0.957000	0.39632	0.231000	0.25187	2.549000	0.45803	2.367000	0.80283	0.597000	0.82753	GGA		0.552	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			31	166	0	0	0	0.002445	0	31	166				
PPEF1	5475	broad.mit.edu	37	X	18802079	18802079	+	Silent	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:18802079A>T	ENST00000361511.4	+	12	1319	c.825A>T	c.(823-825)acA>acT	p.T275T	PPEF1_ENST00000349874.5_Silent_p.T275T|PPEF1_ENST00000543630.1_Silent_p.T275T|PPEF1_ENST00000359763.6_Silent_p.T222T|PPEF1_ENST00000544635.1_Silent_p.T210T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	275	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.T275T(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAATCGGTACAATCGTTGACA	0.403																																							uc004cyq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(823-825)ACA>ACT		protein phosphatase with EF hand calcium-binding							148.0	137.0	141.0					X																	18802079		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18802079A>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.825A>T	X.37:g.18802079A>T						PPEF1_uc004cyp.2_Silent_p.T275T|PPEF1_uc004cyr.2_Silent_p.T275T|PPEF1_uc004cys.2_Silent_p.T275T|PPEF1_uc011mja.1_Silent_p.T210T|PPEF1_uc011mjb.1_Silent_p.T219T	p.T275T	NM_006240	NP_006231	O14829	PPE1_HUMAN			12	1306	+	Hepatocellular(33;0.183)		275			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.825A>T	CCDS14188.1																																																																																				0.403	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		35	122	0	0	0	0.003755	0	35	122				
GPR64	10149	broad.mit.edu	37	X	19020988	19020988	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:19020988G>T	ENST00000379869.3	-	24	2369	c.2206C>A	c.(2206-2208)Ctt>Att	p.L736I	GPR64_ENST00000354791.3_Missense_Mutation_p.L720I|GPR64_ENST00000356606.4_Missense_Mutation_p.L722I|GPR64_ENST00000357991.3_Missense_Mutation_p.L733I|GPR64_ENST00000379878.3_Missense_Mutation_p.L720I|GPR64_ENST00000340581.3_Missense_Mutation_p.L617I|GPR64_ENST00000379873.2_Missense_Mutation_p.L736I|GPR64_ENST00000357544.3_Missense_Mutation_p.L706I|GPR64_ENST00000379876.1_Missense_Mutation_p.L712I|GPR64_ENST00000360279.4_Missense_Mutation_p.L714I	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	736					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L733I(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAGAATTTAAGGATGTATTTT	0.408																																							uc004cyx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2206-2208)CTT>ATT		G protein-coupled receptor 64 isoform 1							115.0	113.0	113.0					X																	19020988		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19020988G>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2206C>A	X.37:g.19020988G>T	ENSP00000369198:p.Leu736Ile					GPR64_uc004cyy.2_Missense_Mutation_p.L733I|GPR64_uc004cyz.2_Missense_Mutation_p.L722I|GPR64_uc004czb.2_Missense_Mutation_p.L736I|GPR64_uc004czc.2_Missense_Mutation_p.L720I|GPR64_uc004czd.2_Missense_Mutation_p.L712I|GPR64_uc004cze.2_Missense_Mutation_p.L706I|GPR64_uc004czf.2_Missense_Mutation_p.L698I|GPR64_uc004cza.2_Missense_Mutation_p.L714I|GPR64_uc004cyw.2_Missense_Mutation_p.L720I|GPR64_uc010nfj.2_Missense_Mutation_p.L617I	p.L736I	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN			24	2370	-	Hepatocellular(33;0.183)		736			Cytoplasmic (Potential).		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2206C>A	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932984	0.73442	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.36	5.36	0.76844	GPCR, family 2-like (1);	0.000000	0.47455	D	0.000239	T	0.57198	0.2037	M	0.72576	2.205	0.45464	D	0.998431	D;P;D;D;D;D;D;D;D;D;D	0.76494	0.993;0.537;0.997;0.969;0.969;0.999;0.997;0.997;0.997;0.965;0.997	D;B;D;D;D;D;D;D;D;D;D	0.76575	0.974;0.316;0.98;0.924;0.924;0.988;0.98;0.973;0.973;0.928;0.988	T	0.59941	-0.7359	10	0.59425	D	0.04	.	11.7041	0.51587	0.0831:0.0:0.9169:0.0	.	617;698;706;712;720;736;714;722;733;736;720	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	I	736;720;720;712;706;736;714;733;722;617	ENSP00000369202:L736I;ENSP00000369207:L720I;ENSP00000346845:L720I;ENSP00000369205:L712I;ENSP00000350152:L706I;ENSP00000369198:L736I;ENSP00000353421:L714I;ENSP00000350680:L733I;ENSP00000349015:L722I;ENSP00000344972:L617I	ENSP00000344972:L617I	L	-	1	0	GPR64	18930909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.530000	0.60595	2.233000	0.73108	0.544000	0.68410	CTT		0.408	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			11	132	1	0	6.40141e-05	0.000978	8.47718e-05	11	132				
MAGEB18	286514	broad.mit.edu	37	X	26157547	26157547	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:26157547C>A	ENST00000325250.1	+	2	632	c.445C>A	c.(445-447)Ctc>Atc	p.L149I		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	149	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.L149I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAATGAGATCCTCAAGAGAGC	0.418																																							uc004dbq.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(445-447)CTC>ATC		melanoma antigen family B, 18							51.0	37.0	42.0					X																	26157547		2202	4299	6501	SO:0001583	missense	286514						protein binding	g.chrX:26157547C>A	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.445C>A	X.37:g.26157547C>A	ENSP00000314543:p.Leu149Ile						p.L149I	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN			2	632	+			149			MAGE.			Missense_Mutation	SNP	ENST00000325250.1	37	c.445C>A	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988727	0.35131	.	.	ENSG00000176774	ENST00000325250	T	0.04970	3.52	4.56	-0.427	0.12310	.	0.447588	0.25032	N	0.033679	T	0.07818	0.0196	L	0.53729	1.69	0.09310	N	0.999999	P	0.41345	0.746	P	0.45660	0.489	T	0.16748	-1.0392	10	0.56958	D	0.05	.	3.7896	0.08715	0.4934:0.3082:0.0:0.1984	.	149	Q96M61	MAGBI_HUMAN	I	149	ENSP00000314543:L149I	ENSP00000314543:L149I	L	+	1	0	MAGEB18	26067468	0.851000	0.29673	0.116000	0.21606	0.755000	0.42902	-0.018000	0.12568	-0.235000	0.09767	-0.205000	0.12727	CTC		0.418	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		3	11	1	0	6.4e-05	0.004672	8.47718e-05	3	11				
GK	2710	broad.mit.edu	37	X	30709248	30709248	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:30709248G>C	ENST00000378943.3	+	5	525	c.346G>C	c.(346-348)Gat>Cat	p.D116H	GK_ENST00000378946.3_Missense_Mutation_p.D116H|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.D116H	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	116					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.D116H(1)		central_nervous_system(1)|large_intestine(3)	4						AGTGTGGCTTGATCTAAGAAC	0.289																																							uc004dch.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(346-348)GAT>CAT		glycerol kinase isoform a							53.0	57.0	55.0					X																	30709248		2199	4277	6476	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30709248G>C	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378943.3:c.346G>C	X.37:g.30709248G>C	ENSP00000368226:p.Asp116His					GK_uc010ngj.2_Missense_Mutation_p.D116H|GK_uc004dci.3_Missense_Mutation_p.D116H|GK_uc011mjz.1_5'UTR|GK_uc011mka.1_5'UTR|GK_uc010ngk.2_5'UTR	p.D116H	NM_203391	NP_976325	P32189	GLPK_HUMAN			5	525	+			116					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378943.3	37	c.346G>C	CCDS48090.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206946	0.39003	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000425166	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.94241	0.8151	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95374	0.8467	10	0.46703	T	0.11	.	19.1891	0.93656	0.0:0.0:1.0:0.0	.	116;116;116	P32189-2;P32189-1;A6NJP5	.;.;.	H	116;116;116;116;35	ENSP00000368229:D116H;ENSP00000368226:D116H;ENSP00000368228:D116H;ENSP00000404682:D35H	ENSP00000368226:D116H	D	+	1	0	GK	30619169	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.714000	0.91412	2.482000	0.83794	0.600000	0.82982	GAT		0.289	GK-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056170.1	NM_000167		5	147	0	0	0	0.000602	0	5	147				
CXorf22	170063	broad.mit.edu	37	X	35969251	35969251	+	Silent	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:35969251G>T	ENST00000297866.5	+	5	726	c.660G>T	c.(658-660)gtG>gtT	p.V220V		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	220								p.V220V(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCTGTAGAGTGATTTTGCAAG	0.333																																							uc004ddj.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)	3						c.(658-660)GTG>GTT		hypothetical protein LOC170063							105.0	92.0	96.0					X																	35969251		2202	4300	6502	SO:0001819	synonymous_variant	170063							g.chrX:35969251G>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.660G>T	X.37:g.35969251G>T						CXorf22_uc010ngv.2_RNA	p.V220V	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			5	719	+			220					Q5JRM8|Q8N6X8	Silent	SNP	ENST00000297866.5	37	c.660G>T	CCDS14237.2																																																																																				0.333	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		9	58	1	0	0.000442599	0.006214	0.000568287	9	58				
BCOR	54880	broad.mit.edu	37	X	39923699	39923699	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:39923699C>A	ENST00000378444.4	-	7	3620	c.3392G>T	c.(3391-3393)cGg>cTg	p.R1131L	BCOR_ENST00000378455.4_Missense_Mutation_p.R1113L|BCOR_ENST00000378463.1_Missense_Mutation_p.R8L|BCOR_ENST00000342274.4_Missense_Mutation_p.R1131L|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						C|||	2	0.000529801	0.0	0.0014	3775	,	,		12421	0.0		0.001	False		,,,				2504	0.0						uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(3391-3393)CGG>CTG		BCL-6 interacting corepressor isoform c							56.0	49.0	51.0					X																	39923699		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39923699C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3392G>T	X.37:g.39923699C>A	ENSP00000367705:p.Arg1131Leu					BCOR_uc004dep.3_Missense_Mutation_p.R1131L|BCOR_uc004deo.3_Missense_Mutation_p.R1113L|BCOR_uc010nhb.2_5'Flank|BCOR_uc004dem.3_Missense_Mutation_p.R1131L	p.R1131L	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			7	3684	-			1131					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.3392G>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345344	0.61073	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.63	1.9	0.25705	.	.	.	.	.	T	0.06735	0.0172	L	0.27053	0.805	0.44149	D	0.996946	B;P;P	0.37864	0.403;0.61;0.546	B;B;B	0.31495	0.13;0.131;0.13	T	0.34104	-0.9842	9	0.62326	D	0.03	-8.93	8.3989	0.32574	0.0:0.6662:0.0:0.3338	.	1113;1131;1131	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	L	35;8;1113;1131;1131;1131;1131	ENSP00000408006:R35L;ENSP00000367724:R8L;ENSP00000367716:R1113L;ENSP00000380512:R1131L;ENSP00000367705:R1131L;ENSP00000345923:R1131L;ENSP00000384485:R1131L	ENSP00000345923:R1131L	R	-	2	0	BCOR	39808643	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	1.519000	0.35888	0.201000	0.20466	0.529000	0.55759	CGG		0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		7	51	1	0	2.0095e-06	0.001984	2.83299e-06	7	51				
DDX3X	1654	broad.mit.edu	37	X	41196688	41196688	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:41196688G>A	ENST00000399959.2	+	2	928	c.73G>A	c.(73-75)Gat>Aat	p.D25N	DDX3X_ENST00000542215.1_Missense_Mutation_p.D69N|DDX3X_ENST00000457138.2_Missense_Mutation_p.D25N|DDX3X_ENST00000441189.2_Missense_Mutation_p.D25N|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	25	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.D25N(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GAACTCTTCAGATAATCAGAG	0.408										HNSCC(61;0.18)																													uc004dfe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(73-75)GAT>AAT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							131.0	119.0	123.0					X																	41196688		1896	4116	6012	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41196688G>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.73G>A	X.37:g.41196688G>A	ENSP00000382840:p.Asp25Asn	HNSCC(61;0.18)				DDX3X_uc004dfd.1_RNA|DDX3X_uc010nhf.1_Missense_Mutation_p.D25N|DDX3X_uc004dff.2_Missense_Mutation_p.D25N|DDX3X_uc011mkq.1_Missense_Mutation_p.D25N|DDX3X_uc011mkr.1_Missense_Mutation_p.D25N|DDX3X_uc011mks.1_Missense_Mutation_p.D25N|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.D25N	NM_001356	NP_001347	O00571	DDX3X_HUMAN			2	928	+			25					A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.73G>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741583	0.69304	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189;ENST00000542215	T;T;T	0.46451	2.09;1.95;0.87	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.16708	0.43	0.80722	D	1	P;B;B;P;B;B	0.44139	0.827;0.002;0.059;0.799;0.281;0.148	B;B;B;B;B;B	0.43018	0.405;0.006;0.059;0.318;0.025;0.025	T	0.05500	-1.0881	10	0.16896	T	0.51	-16.0643	18.276	0.90084	0.0:0.0:1.0:0.0	.	25;25;25;25;37;25	B4DLA0;B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;.;DDX3X_HUMAN	N	25;25;25;69	ENSP00000382840:D25N;ENSP00000392494:D25N;ENSP00000439799:D69N	ENSP00000382840:D25N	D	+	1	0	DDX3X	41081632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.766000	0.91728	2.341000	0.79615	0.513000	0.50165	GAT		0.408	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		7	116	0	0	0	0.00308	0	7	116				
RP2	6102	broad.mit.edu	37	X	46712938	46712938	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:46712938G>T	ENST00000218340.3	+	2	291	c.130G>T	c.(130-132)Gga>Tga	p.G44*		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	44	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.G44*(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CATGTTCAGTGGACTGAAGGA	0.388																																							uc004dgw.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(130-132)GGA>TGA		XRP2 protein							87.0	79.0	82.0					X																	46712938		2203	4300	6503	SO:0001587	stop_gained	6102				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	g.chrX:46712938G>T	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.130G>T	X.37:g.46712938G>T	ENSP00000218340:p.Gly44*						p.G44*	NM_006915	NP_008846	O75695	XRP2_HUMAN			2	319	+			44			C-CAP/cofactor C-like.		Q86XJ7|Q9NU67	Nonsense_Mutation	SNP	ENST00000218340.3	37	c.130G>T	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	37	6.591475	0.97688	.	.	ENSG00000102218	ENST00000218340	.	.	.	5.38	5.38	0.77491	.	0.097934	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-4.7393	18.2026	0.89843	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000218340:G44X	G	+	1	0	RP2	46597882	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.325000	0.96381	2.235000	0.73313	0.513000	0.50165	GGA		0.388	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		7	95	1	0	8.12818e-05	0.001984	0.000106968	7	95				
WDR13	64743	broad.mit.edu	37	X	48458017	48458017	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:48458017T>G	ENST00000218056.5	+	4	940	c.435T>G	c.(433-435)agT>agG	p.S145R	WDR13_ENST00000376729.5_Missense_Mutation_p.S145R|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	145						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S145R(2)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CAGAGGCAAGTCGGGCCATGG	0.607																																							uc004dkh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(433-435)AGT>AGG		WD repeat domain 13 protein							90.0	76.0	80.0					X																	48458017		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458017T>G	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.435T>G	X.37:g.48458017T>G	ENSP00000218056:p.Ser145Arg					WDR13_uc010nif.1_Missense_Mutation_p.S23R|WDR13_uc004dki.1_Missense_Mutation_p.S53R|WDR13_uc004dkj.1_Missense_Mutation_p.S145R|WDR13_uc004dkk.1_Missense_Mutation_p.S53R|WDR13_uc004dkl.3_Missense_Mutation_p.S53R|WDR13_uc011mme.1_Missense_Mutation_p.S23R	p.S145R	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN			5	582	+			145					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.435T>G	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.598903	0.66332	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.72615	-0.67;-0.67	5.48	2.76	0.32466	.	0.000000	0.85682	D	0.000000	T	0.74711	0.3752	M	0.63843	1.955	0.53005	D	0.99996	D;P	0.69078	0.997;0.93	D;B	0.64687	0.928;0.345	T	0.70594	-0.4829	10	0.12430	T	0.62	-17.9138	8.0394	0.30513	0.0:0.2051:0.0:0.7949	.	23;145	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	R	145	ENSP00000365919:S145R;ENSP00000218056:S145R	ENSP00000218056:S145R	S	+	3	2	WDR13	48342961	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.830000	0.27462	0.708000	0.31955	-0.460000	0.05396	AGT		0.607	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			7	99	0	0	0	0.001984	0	7	99				
WNK3	65267	broad.mit.edu	37	X	54264888	54264888	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:54264888T>C	ENST00000375159.2	-	18	3900	c.3901A>G	c.(3901-3903)Aga>Gga	p.R1301G	WNK3_ENST00000354646.2_Missense_Mutation_p.R1301G|WNK3_ENST00000375169.3_Missense_Mutation_p.R1254G			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1301					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1301G(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATTGCTGATCTCATCTCTTCT	0.378																																							uc004dtd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(3760-3762)AGA>GGA		WNK lysine deficient protein kinase 3 isoform 2							82.0	66.0	71.0					X																	54264888		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54264888T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3901A>G	X.37:g.54264888T>C	ENSP00000364301:p.Arg1301Gly					WNK3_uc004dtc.1_Missense_Mutation_p.R1301G	p.R1254G	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			19	4199	-			1254					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.3760A>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	7.672	0.687258	0.14973	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72942	-0.61;-0.7;-0.7	5.06	3.81	0.43845	.	0.202617	0.34067	N	0.004296	T	0.52468	0.1736	L	0.32530	0.975	0.09310	N	1	P;B	0.38504	0.634;0.309	B;B	0.33620	0.167;0.037	T	0.51100	-0.8748	10	0.51188	T	0.08	-5.3307	5.2556	0.15546	0.0:0.0977:0.1796:0.7227	.	1254;1301	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	G	1254;1301;1301	ENSP00000364312:R1254G;ENSP00000346667:R1301G;ENSP00000364301:R1301G	ENSP00000346667:R1301G	R	-	1	2	WNK3	54281613	0.293000	0.24371	0.036000	0.18154	0.663000	0.39108	1.763000	0.38461	1.671000	0.50874	0.486000	0.48141	AGA		0.378	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		10	36	0	0	0	0.006214	0	10	36				
ALAS2	212	broad.mit.edu	37	X	55052311	55052311	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:55052311C>A	ENST00000330807.5	-	2	260	c.123G>T	c.(121-123)ctG>ctT	p.L41L	ALAS2_ENST00000335854.4_Silent_p.L41L|ALAS2_ENST00000396198.3_Silent_p.L65L	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	41					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.L65L(1)|p.L41L(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTTGGGTAGCCAGGATGGGAC	0.542																																							uc004dua.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(121-123)CTG>CTT		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						148.0	102.0	118.0					X																	55052311		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55052311C>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.123G>T	X.37:g.55052311C>A						ALAS2_uc004dub.3_Silent_p.L65L|ALAS2_uc004dud.3_Silent_p.L41L	p.L41L	NM_000032	NP_000023	P22557	HEM0_HUMAN			2	261	-			41					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.123G>T	CCDS14366.1																																																																																				0.542	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		12	86	1	0	7.93312e-07	0.00245	1.14129e-06	12	86				
MED12	9968	broad.mit.edu	37	X	70356805	70356805	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:70356805C>T	ENST00000374080.3	+	38	5509	c.5477C>T	c.(5476-5478)cCt>cTt	p.P1826L	MED12_ENST00000374102.1_Missense_Mutation_p.P1826L|MED12_ENST00000333646.6_Missense_Mutation_p.P1826L			Q93074	MED12_HUMAN	mediator complex subunit 12	1826	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P1826L(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CACCCAAACCCTGGTTCTATA	0.582			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)	p.T1826I(1)	lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(5476-5478)CCT>CTT		mediator complex subunit 12							41.0	43.0	42.0					X																	70356805		2006	4139	6145	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70356805C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5477C>T	X.37:g.70356805C>T	ENSP00000363193:p.Pro1826Leu					MED12_uc011mpq.1_Missense_Mutation_p.P1826L|MED12_uc004dyz.2_Missense_Mutation_p.P1826L|MED12_uc004dza.2_Missense_Mutation_p.P1673L|MED12_uc010nla.2_Missense_Mutation_p.P452L	p.P1826L	NM_005120	NP_005111	Q93074	MED12_HUMAN			38	5676	+	Renal(35;0.156)		1826			Interaction with CTNNB1 and GLI3.		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.5477C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	-	3.178	-0.168540	0.06461	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.56611	0.46;0.46;0.46;0.45;1.57	4.11	3.16	0.36331	Mediator complex, subunit Med12, catenin-binding (1);	0.429904	0.21347	N	0.076029	T	0.36771	0.0979	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.27882	0.16;0.085;0.16;0.192	B;B;B;B	0.25759	0.037;0.063;0.037;0.063	T	0.31971	-0.9924	10	0.39692	T	0.17	-6.348	13.8279	0.63361	0.0:0.7775:0.2225:0.0	.	1826;1673;1826;1826	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	L	1826;1826;1826;1826;1794;571	ENSP00000333125:P1826L;ENSP00000363215:P1826L;ENSP00000363193:P1826L;ENSP00000414203:P1794L;ENSP00000408388:P571L	ENSP00000333125:P1826L	P	+	2	0	MED12	70273530	0.364000	0.24997	0.038000	0.18304	0.168000	0.22595	3.142000	0.50601	2.064000	0.61679	0.479000	0.44913	CCT		0.582	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		4	30	0	0	0	0.000248	0	4	30				
KIAA2022	340533	broad.mit.edu	37	X	73960592	73960592	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:73960592G>T	ENST00000055682.6	-	3	4411	c.3800C>A	c.(3799-3801)cCt>cAt	p.P1267H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1267					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.P1267H(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAGGCCATAGGGCCACCATG	0.527																																							uc004eby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3799-3801)CCT>CAT		hypothetical protein LOC340533							98.0	68.0	78.0					X																	73960592		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960592G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3800C>A	X.37:g.73960592G>T	ENSP00000055682:p.Pro1267His						p.P1267H	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4417	-			1267					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.3800C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	7.683	0.689409	0.14973	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.28895	1.59;1.59	5.11	4.25	0.50352	.	0.327581	0.26847	N	0.022192	T	0.31167	0.0788	L	0.29908	0.895	0.21325	N	0.999723	D	0.59357	0.985	P	0.52267	0.694	T	0.08932	-1.0698	10	0.87932	D	0	-1.2701	9.3784	0.38297	0.0781:0.0:0.7791:0.1428	.	1267	Q5QGS0	K2022_HUMAN	H	1267	ENSP00000362567:P1267H;ENSP00000055682:P1267H	ENSP00000055682:P1267H	P	-	2	0	KIAA2022	73877317	1.000000	0.71417	0.109000	0.21407	0.175000	0.22909	4.390000	0.59646	1.140000	0.42260	0.600000	0.82982	CCT		0.527	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	53	1	0	0.00307968	0.00308	0.00382243	8	53				
KIAA2022	340533	broad.mit.edu	37	X	73961412	73961412	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:73961412C>T	ENST00000055682.6	-	3	3591	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	994					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.D994N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCCATTGAATCAAAGCTAAAG	0.428																																							uc004eby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2980-2982)GAT>AAT		hypothetical protein LOC340533							71.0	61.0	65.0					X																	73961412		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73961412C>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2980G>A	X.37:g.73961412C>T	ENSP00000055682:p.Asp994Asn						p.D994N	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	3597	-			994					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.2980G>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483154	0.63962	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.41065	1.01;1.01	5.58	5.58	0.84498	.	0.141232	0.64402	D	0.000007	T	0.55337	0.1914	L	0.38531	1.155	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	T	0.57124	-0.7865	10	0.62326	D	0.03	-15.5988	18.6356	0.91378	0.0:1.0:0.0:0.0	.	994	Q5QGS0	K2022_HUMAN	N	994	ENSP00000362567:D994N;ENSP00000055682:D994N	ENSP00000055682:D994N	D	-	1	0	KIAA2022	73878137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.777000	0.68931	2.344000	0.79699	0.600000	0.82982	GAT		0.428	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		14	49	0	0	0	0.001855	0	14	49				
RPS6KA6	27330	broad.mit.edu	37	X	83319979	83319979	+	Splice_Site	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83319979C>A	ENST00000262752.2	-	21	2119	c.2112G>T	c.(2110-2112)aaG>aaT	p.K704N	RPS6KA6_ENST00000543399.1_Splice_Site_p.K704N	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	704					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K704N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTGTTTTACCTTAACAACAT	0.353																																							uc004eej.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(2110-2112)AAG>AAT		ribosomal protein S6 kinase polypeptide 6							195.0	169.0	178.0					X																	83319979		2203	4300	6503	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83319979C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2112+1G>T	X.37:g.83319979C>A						RPS6KA6_uc011mqt.1_Missense_Mutation_p.K704N|RPS6KA6_uc011mqu.1_Missense_Mutation_p.K601N	p.K704N	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			21	2189	-			704					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.2112G>T	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635719	0.29068	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.38887	1.11;1.11	4.76	2.88	0.33553	Protein kinase-like domain (1);	0.047393	0.85682	D	0.000000	T	0.48429	0.1499	M	0.70595	2.14	0.58432	D	0.999997	P;D	0.53312	0.916;0.959	P;P	0.49708	0.46;0.62	T	0.42932	-0.9422	9	.	.	.	.	10.3788	0.44099	0.0:0.8245:0.0:0.1755	.	704;704	B7ZL90;Q9UK32	.;KS6A6_HUMAN	N	704	ENSP00000262752:K704N;ENSP00000440830:K704N	.	K	-	3	2	RPS6KA6	83206635	1.000000	0.71417	0.995000	0.50966	0.261000	0.26267	4.283000	0.58977	0.296000	0.22592	0.600000	0.82982	AAG		0.353	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	Missense_Mutation	11	147	1	0	0.00136819	0.001368	0.00173213	11	147				
RPS6KA6	27330	broad.mit.edu	37	X	83362701	83362701	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83362701G>C	ENST00000262752.2	-	13	1048	c.1041C>G	c.(1039-1041)ttC>ttG	p.F347L	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.F347L|RPS6KA6_ENST00000495332.1_5'Flank	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	347	AGC-kinase C-terminal.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F347L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGCAGGTTTGAAAGGAGGTT	0.299																																							uc004eej.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						c.(1039-1041)TTC>TTG		ribosomal protein S6 kinase polypeptide 6							49.0	47.0	47.0					X																	83362701		2203	4289	6492	SO:0001583	missense	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83362701G>C	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1041C>G	X.37:g.83362701G>C	ENSP00000262752:p.Phe347Leu					RPS6KA6_uc011mqt.1_Missense_Mutation_p.F347L|RPS6KA6_uc011mqu.1_Missense_Mutation_p.F244L	p.F347L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN			13	1118	-			347			AGC-kinase C-terminal.		B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	c.1041C>G	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789392	0.49997	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.56776	0.44;0.44	3.92	2.13	0.27403	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.111397	0.64402	D	0.000008	T	0.67552	0.2905	H	0.97265	3.97	0.80722	D	1	P;P	0.43094	0.691;0.799	B;B	0.43990	0.342;0.438	T	0.70128	-0.4957	10	0.72032	D	0.01	.	7.9123	0.29798	0.4617:0.0:0.5383:0.0	.	347;347	B7ZL90;Q9UK32	.;KS6A6_HUMAN	L	347	ENSP00000262752:F347L;ENSP00000440830:F347L	ENSP00000262752:F347L	F	-	3	2	RPS6KA6	83249357	1.000000	0.71417	0.740000	0.30986	0.963000	0.63663	2.119000	0.41958	0.137000	0.18759	-0.312000	0.09012	TTC		0.299	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496		3	46	0	0	0	0.000248	0	3	46				
HDX	139324	broad.mit.edu	37	X	83599336	83599336	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83599336C>T	ENST00000297977.5	-	6	1693	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	HDX_ENST00000506585.2_Missense_Mutation_p.E470K|HDX_ENST00000373177.2_Missense_Mutation_p.E528K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	528						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E528K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGCCCAGCTTCCTCTCCTGGT	0.463																																					Pancreas(53;231 1169 36156 43751 51139)	Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1582-1584)GAA>AAA		highly divergent homeobox							102.0	92.0	96.0					X																	83599336		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83599336C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1582G>A	X.37:g.83599336C>T	ENSP00000297977:p.Glu528Lys					HDX_uc011mqv.1_Missense_Mutation_p.E528K|HDX_uc004eel.1_Missense_Mutation_p.E470K	p.E528K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			6	1691	-			528					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1582G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859600	0.71834	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.35048	1.35;1.33;1.35	5.46	5.46	0.80206	.	0.215087	0.47093	D	0.000242	T	0.28797	0.0714	L	0.27053	0.805	0.45962	D	0.998781	B	0.32245	0.361	B	0.30401	0.115	T	0.04203	-1.0969	10	0.26408	T	0.33	-24.1459	18.3869	0.90470	0.0:1.0:0.0:0.0	.	528	Q7Z353	HDX_HUMAN	K	528;470;528	ENSP00000297977:E528K;ENSP00000362272:E470K;ENSP00000423670:E528K	ENSP00000297977:E528K	E	-	1	0	HDX	83485992	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	4.779000	0.62375	2.282000	0.76494	0.597000	0.82753	GAA		0.463	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		4	95	0	0	0	0.000248	0	4	95				
HDX	139324	broad.mit.edu	37	X	83724224	83724224	+	Silent	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:83724224T>A	ENST00000297977.5	-	3	618	c.507A>T	c.(505-507)ctA>ctT	p.L169L	HDX_ENST00000506585.2_Silent_p.L111L|HDX_ENST00000373177.2_Silent_p.L169L	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	169						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L169L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTTTCACCTAGGAGTAGGG	0.368																																					Pancreas(53;231 1169 36156 43751 51139)	Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(505-507)CTA>CTT		highly divergent homeobox							167.0	139.0	149.0					X																	83724224		2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724224T>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.507A>T	X.37:g.83724224T>A						HDX_uc011mqv.1_Silent_p.L169L|HDX_uc004eel.1_Silent_p.L111L	p.L169L	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	616	-			169					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.507A>T	CCDS35342.1																																																																																				0.368	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		27	138	0	0	0	0.005443	0	27	138				
POF1B	79983	broad.mit.edu	37	X	84559397	84559397	+	Silent	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:84559397C>A	ENST00000262753.4	-	14	1663	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	POF1B_ENST00000373145.3_Silent_p.L506L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	506						tight junction (GO:0005923)		p.L506L(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCAAGCTTGTCAGTTCATGAA	0.378																																							uc004eer.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1516-1518)CTG>CTT		premature ovarian failure, 1B							106.0	90.0	96.0					X																	84559397		2203	4300	6503	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84559397C>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1518G>T	X.37:g.84559397C>A						POF1B_uc004ees.2_Silent_p.L506L	p.L506L	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			14	1664	-			506					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.1518G>T	CCDS14452.1																																																																																				0.378	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		16	47	1	0	0.00316338	0.003163	0.00391863	16	47				
FAM133A	286499	broad.mit.edu	37	X	92965126	92965126	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:92965126G>A	ENST00000355813.5	+	4	1234	c.708G>A	c.(706-708)aaG>aaA	p.K236K	FAM133A_ENST00000538690.1_Silent_p.K236K|FAM133A_ENST00000322139.4_Silent_p.K236K|FAM133A_ENST00000332647.4_Silent_p.K236K	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	236	Lys-rich.							p.K236K(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						atagtaagaagaagaaaaaga	0.363																																							uc004efr.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(706-708)AAG>AAA		hypothetical protein LOC286499							25.0	25.0	25.0					X																	92965126		2174	4215	6389	SO:0001819	synonymous_variant	286499							g.chrX:92965126G>A	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.708G>A	X.37:g.92965126G>A							p.K236K	NM_173698	NP_775969	Q8N9E0	F133A_HUMAN			4	1021	+			236			Lys-rich.			Silent	SNP	ENST00000355813.5	37	c.708G>A	CCDS14466.1																																																																																				0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		4	32	0	0	0	0.000248	0	4	32				
SRPX2	27286	broad.mit.edu	37	X	99920554	99920554	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:99920554G>T	ENST00000373004.3	+	7	1109	c.681G>T	c.(679-681)gaG>gaT	p.E227D		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	227	HYR. {ECO:0000255|PROSITE- ProRule:PRU00113}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.E227D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGGGCCCTGAGCCTGGCTCTC	0.527																																							uc004egb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(679-681)GAG>GAT		sushi-repeat-containing protein, X-linked 2							76.0	67.0	70.0					X																	99920554		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99920554G>T	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.681G>T	X.37:g.99920554G>T	ENSP00000362095:p.Glu227Asp						p.E227D	NM_014467	NP_055282	O60687	SRPX2_HUMAN			7	1161	+			227			HYR.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.681G>T	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.712060	0.30322	.	.	ENSG00000102359	ENST00000373004	T	0.23348	1.91	5.61	4.71	0.59529	Hyalin (2);	0.087509	0.85682	D	0.000000	T	0.26304	0.0642	L	0.43152	1.355	0.58432	D	0.999996	P	0.52170	0.951	P	0.48552	0.581	T	0.02115	-1.1211	9	.	.	.	-14.7602	7.8154	0.29256	0.2658:0.0:0.7342:0.0	.	227	O60687	SRPX2_HUMAN	D	227	ENSP00000362095:E227D	.	E	+	3	2	SRPX2	99807210	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.152000	0.31663	1.071000	0.40834	0.529000	0.55759	GAG		0.527	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		9	122	1	0	1.12685e-05	0.004482	1.54393e-05	9	122				
NOX1	27035	broad.mit.edu	37	X	100106267	100106267	+	Silent	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:100106267C>T	ENST00000372966.3	-	8	1057	c.852G>A	c.(850-852)agG>agA	p.R284R	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Silent_p.R284R|NOX1_ENST00000372960.4_Silent_p.R247R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	284	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.R284R(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACCGGAGGATCCTTTCACAGA	0.423																																							uc004egj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(850-852)AGG>AGA		NADPH oxidase 1 isoform long							71.0	55.0	60.0					X																	100106267		2203	4299	6502	SO:0001819	synonymous_variant	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100106267C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.852G>A	X.37:g.100106267C>T						NOX1_uc004egl.3_Silent_p.R284R|NOX1_uc010nne.2_Silent_p.R247R	p.R284R	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			8	1058	-			284			FAD-binding FR-type.|Extracellular (Potential).		A8K836|O95691|Q2PP02	Silent	SNP	ENST00000372966.3	37	c.852G>A	CCDS14474.1																																																																																				0.423	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		9	26	0	0	0	0.006214	0	9	26				
GLA	2717	broad.mit.edu	37	X	100653523	100653523	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:100653523A>T	ENST00000218516.3	-	6	855	c.834T>A	c.(832-834)aaT>aaA	p.N278K	GLA_ENST00000479445.1_5'Flank|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	278					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)	p.N278K(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TTACTTGCTGATTCCAGCTGA	0.443																																					Colon(193;776 2816 31189 44474)	Colon(193;776 2816 31189 44474)	uc004ehl.1		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CI003797	GLA	I		c.(832-834)AAT>AAA		alpha-galactosidase A precursor	Agalsidase beta(DB00103)						107.0	106.0	106.0					X																	100653523		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653523A>T	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.834T>A	X.37:g.100653523A>T	ENSP00000218516:p.Asn278Lys						p.N278K	NM_000169	NP_000160	P06280	AGAL_HUMAN			6	944	-			278					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.834T>A	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.111241	0.56398	.	.	ENSG00000102393	ENST00000218516	D	0.99933	-8.24	5.71	0.258	0.15578	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.230104	0.50627	D	0.000112	D	0.99417	0.9794	.	.	.	0.36845	D	0.887606	P	0.41569	0.755	B	0.32928	0.155	D	0.98824	1.0748	9	0.72032	D	0.01	-8.2211	1.714	0.02898	0.3184:0.2628:0.2992:0.1196	.	278	P06280	AGAL_HUMAN	K	278	ENSP00000218516:N278K	ENSP00000218516:N278K	N	-	3	2	GLA	100540179	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.130000	0.31393	-0.004000	0.14419	0.486000	0.48141	AAT		0.443	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			4	182	0	0	0	0.000248	0	4	182				
IL1RAPL2	26280	broad.mit.edu	37	X	105011541	105011541	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:105011541A>T	ENST00000372582.1	+	11	2704	c.1948A>T	c.(1948-1950)Aac>Tac	p.N650Y	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N650Y	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	650					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.N650Y(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GACGCTACTCAACGGACAGCT	0.463																																							uc004elz.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1948-1950)AAC>TAC		interleukin 1 receptor accessory protein-like 2							130.0	131.0	131.0					X																	105011541		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011541A>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1948A>T	X.37:g.105011541A>T	ENSP00000361663:p.Asn650Tyr						p.N650Y	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2704	+			650			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1948A>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260785	0.59431	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.10099	3.18;3.18;2.91	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.03933	-1.0991	10	0.87932	D	0	.	14.1913	0.65639	1.0:0.0:0.0:0.0	.	650	Q9NP60	IRPL2_HUMAN	Y	650;650;255	ENSP00000361663:N650Y;ENSP00000344976:N650Y;ENSP00000445576:N255Y	ENSP00000344976:N650Y	N	+	1	0	IL1RAPL2	104898197	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	8.962000	0.93254	1.949000	0.56562	0.486000	0.48141	AAC		0.463	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		32	128	0	0	0	0.001786	0	32	128				
CHRDL1	91851	broad.mit.edu	37	X	109943926	109943926	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:109943926G>A	ENST00000372045.1	-	7	675	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	CHRDL1_ENST00000444321.2_Missense_Mutation_p.H188Y|CHRDL1_ENST00000218054.4_Missense_Mutation_p.H188Y|CHRDL1_ENST00000394797.4_Missense_Mutation_p.H188Y|CHRDL1_ENST00000434224.1_Missense_Mutation_p.H109Y|CHRDL1_ENST00000482160.1_Missense_Mutation_p.H109Y|CHRDL1_ENST00000372042.1_Missense_Mutation_p.H189Y			Q9BU40	CRDL1_HUMAN	chordin-like 1	182					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.H188Y(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CCATCAGAATGTTCCCATGAC	0.408																																							uc004eou.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(565-567)CAT>TAT		chordin-like 1 isoform 1 precursor							196.0	169.0	178.0					X																	109943926		2203	4300	6503	SO:0001583	missense	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109943926G>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.544C>T	X.37:g.109943926G>A	ENSP00000361115:p.His182Tyr					CHRDL1_uc004eov.2_Missense_Mutation_p.H183Y|CHRDL1_uc004eow.2_Missense_Mutation_p.H188Y|CHRDL1_uc010nps.2_Missense_Mutation_p.H188Y|CHRDL1_uc004eot.2_Missense_Mutation_p.H109Y|CHRDL1_uc011mss.1_Missense_Mutation_p.H103Y	p.H189Y	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN			7	914	-			182					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	ENST00000372045.1	37	c.565C>T		.	.	.	.	.	.	.	.	.	.	G	10.96	1.497992	0.26861	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.30448	2.29;1.53;2.29;2.29;2.54;1.53;2.29	4.75	4.75	0.60458	.	0.157745	0.56097	D	0.000029	T	0.24699	0.0599	N	0.24115	0.695	0.39222	D	0.963511	P;P;B;P;P;P	0.51933	0.949;0.707;0.442;0.818;0.707;0.666	P;B;B;B;B;B	0.45712	0.491;0.135;0.135;0.135;0.135;0.14	T	0.03840	-1.0999	9	.	.	.	-13.4701	13.364	0.60674	0.0:0.0:0.8417:0.1583	.	109;188;168;182;189;109	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	Y	182;109;188;188;189;109;188	ENSP00000361115:H182Y;ENSP00000389627:H109Y;ENSP00000218054:H188Y;ENSP00000378276:H188Y;ENSP00000361112:H189Y;ENSP00000418443:H109Y;ENSP00000399739:H188Y	.	H	-	1	0	CHRDL1	109830582	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.019000	0.64060	2.282000	0.76494	0.544000	0.68410	CAT		0.408	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234		10	99	0	0	0	0.008291	0	10	99				
PAK3	5063	broad.mit.edu	37	X	110459767	110459767	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:110459767C>A	ENST00000372010.1	+	18	2013	c.1571C>A	c.(1570-1572)tCt>tAt	p.S524Y	PAK3_ENST00000372007.5_Missense_Mutation_p.S509Y|PAK3_ENST00000519681.1_Missense_Mutation_p.S530Y|PAK3_ENST00000446737.1_Missense_Mutation_p.S509Y|PAK3_ENST00000518291.1_Missense_Mutation_p.S545Y|PAK3_ENST00000425146.1_Missense_Mutation_p.S509Y|PAK3_ENST00000262836.4_Missense_Mutation_p.S524Y|PAK3_ENST00000417227.1_Missense_Mutation_p.S530Y|PAK3_ENST00000360648.4_Missense_Mutation_p.S545Y			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	524	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.S545Y(1)|p.S509Y(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGGCGAGGATCTGCCAAGGAG	0.433										TSP Lung(19;0.15)																													uc004epa.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(6)|ovary(3)|large_intestine(1)	10						c.(1570-1572)TCT>TAT		p21-activated kinase 3 isoform d							129.0	120.0	123.0					X																	110459767		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110459767C>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1571C>A	X.37:g.110459767C>A	ENSP00000361080:p.Ser524Tyr	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.S509Y|PAK3_uc010npu.1_Missense_Mutation_p.S509Y|PAK3_uc004eoy.1_Missense_Mutation_p.S264Y|PAK3_uc004eoz.2_Missense_Mutation_p.S509Y|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.S545Y|PAK3_uc010npw.1_Missense_Mutation_p.S530Y	p.S524Y	NM_001128173	NP_001121645	O75914	PAK3_HUMAN			14	1598	+			524			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.1571C>A	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743997	0.69418	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85195	0.5641	M	0.88704	2.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.99;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.992;0.954;0.995;0.992;0.995	D	0.88043	0.2782	10	0.87932	D	0	.	18.6488	0.91421	0.0:1.0:0.0:0.0	.	530;545;524;509;524	O75914-4;O75914-3;O75914;O75914-2;B1GX77	.;.;PAK3_HUMAN;.;.	Y	509;509;524;530;509;545;545;530;524	ENSP00000410853:S509Y;ENSP00000401982:S509Y;ENSP00000361080:S524Y;ENSP00000429113:S530Y;ENSP00000361077:S509Y;ENSP00000428921:S545Y;ENSP00000353864:S545Y;ENSP00000389172:S530Y;ENSP00000262836:S524Y	ENSP00000262836:S524Y	S	+	2	0	PAK3	110346423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.423000	0.59861	2.348000	0.79779	0.525000	0.51046	TCT		0.433	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		13	118	1	0	3.27435e-08	0.00245	4.97042e-08	13	118				
CAPN6	827	broad.mit.edu	37	X	110494870	110494870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:110494870C>A	ENST00000324068.1	-	6	967	c.800G>T	c.(799-801)aGa>aTa	p.R267I	CAPN6_ENST00000541758.1_Missense_Mutation_p.R12I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	267	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.R267I(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCCACAAGTCTCTCTCCAAG	0.483																																							uc004epc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(799-801)AGA>ATA		calpain 6							280.0	277.0	278.0					X																	110494870		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494870C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.800G>T	X.37:g.110494870C>A	ENSP00000317214:p.Arg267Ile					CAPN6_uc011msu.1_Missense_Mutation_p.R12I	p.R267I	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			6	968	-			267			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.800G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022169	0.75275	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	D;D	0.90504	-2.68;-2.22	6.17	5.31	0.75309	Peptidase C2, calpain, catalytic domain (3);	0.241881	0.41605	D	0.000841	D	0.91233	0.7237	L	0.49126	1.545	0.58432	D	0.999999	P	0.48230	0.907	P	0.53760	0.734	D	0.91206	0.4995	10	0.59425	D	0.04	.	12.0971	0.53761	0.0:0.8621:0.0:0.1379	.	267	Q9Y6Q1	CAN6_HUMAN	I	267;12	ENSP00000317214:R267I;ENSP00000441736:R12I	ENSP00000317214:R267I	R	-	2	0	CAPN6	110381526	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.818000	0.55678	2.618000	0.88619	0.600000	0.82982	AGA		0.483	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			43	477	1	0	7.63091e-17	0.007835	1.31977e-16	43	477				
KIAA1210	57481	broad.mit.edu	37	X	118221462	118221462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:118221462C>A	ENST00000402510.2	-	11	3730	c.3731G>T	c.(3730-3732)aGt>aTt	p.S1244I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1244								p.S1244I(1)|p.S1068I(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGATTAGCACTCCCTGAATC	0.463																																							uc004era.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(3730-3732)AGT>ATT		hypothetical protein LOC57481							39.0	36.0	37.0					X																	118221462		1876	4103	5979	SO:0001583	missense	57481							g.chrX:118221462C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3731G>T	X.37:g.118221462C>A	ENSP00000384670:p.Ser1244Ile						p.S1244I	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	3731	-			1244					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.3731G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.72|13.72	2.322273|2.322273	0.41096|0.41096	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.11169	.|2.8	4.38|4.38	-0.0365|-0.0365	0.13888|0.13888	.|.	.|.	.|.	.|.	.|.	T|T	0.09818|0.09818	0.0241|0.0241	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	.|P	.|0.47677	.|0.899	.|P	.|0.45138	.|0.471	T|T	0.24835|0.24835	-1.0149|-1.0149	5|9	.|0.52906	.|T	.|0.07	.|.	7.472|7.472	0.27355|0.27355	0.0:0.2516:0.0:0.7484|0.0:0.2516:0.0:0.7484	.|.	.|1244	.|Q9ULL0	.|K1210_HUMAN	D|I	650|1244	.|ENSP00000384670:S1244I	.|ENSP00000384670:S1244I	E|S	-|-	3|2	2|0	KIAA1210|RP13-347D8.6	118105490|118105490	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.695000|-0.695000	0.05109|0.05109	-0.151000|-0.151000	0.11176|0.11176	-0.190000|-0.190000	0.12839|0.12839	GAG|AGT		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		7	43	1	0	1.06961e-07	0.00308	1.61206e-07	7	43				
ARHGAP36	158763	broad.mit.edu	37	X	130220361	130220361	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:130220361C>G	ENST00000276211.5	+	10	1685	c.1340C>G	c.(1339-1341)gCa>gGa	p.A447G	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A311G|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A435G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	447					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.A447G(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCCGGAAGCACTTGATTTT	0.483																																							uc004evz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1339-1341)GCA>GGA		hypothetical protein LOC158763 precursor							109.0	102.0	104.0					X																	130220361		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220361C>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1340C>G	X.37:g.130220361C>G	ENSP00000276211:p.Ala447Gly					ARHGAP36_uc004ewa.2_Missense_Mutation_p.A435G|ARHGAP36_uc004ewb.2_Missense_Mutation_p.A416G|ARHGAP36_uc004ewc.2_Missense_Mutation_p.A311G	p.A447G	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			10	1685	+			447					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1340C>G	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.290714	0.23564	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10668	2.85;2.85;2.87;2.86	4.69	2.91	0.33838	.	0.000000	0.44902	D	0.000409	T	0.09379	0.0231	N	0.08118	0	0.33106	D	0.539878	D;D;D	0.58268	0.982;0.982;0.97	P;P;P	0.58013	0.831;0.831;0.681	T	0.18967	-1.0320	10	0.39692	T	0.17	.	5.6541	0.17633	0.0:0.7558:0.0:0.2442	.	416;435;447	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	G	447;435;416;311	ENSP00000276211:A447G;ENSP00000359960:A435G;ENSP00000408515:A416G;ENSP00000359959:A311G	ENSP00000276211:A447G	A	+	2	0	ARHGAP36	130048042	0.930000	0.31532	0.956000	0.39512	0.260000	0.26232	1.808000	0.38912	1.088000	0.41272	0.600000	0.82982	GCA		0.483	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		34	91	0	0	0	0.003755	0	34	91				
GPR112	139378	broad.mit.edu	37	X	135427235	135427235	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:135427235C>A	ENST00000394143.1	+	6	1661	c.1370C>A	c.(1369-1371)gCa>gAa	p.A457E	GPR112_ENST00000287534.4_Missense_Mutation_p.A394E|GPR112_ENST00000370652.1_Missense_Mutation_p.A457E|GPR112_ENST00000412101.1_Missense_Mutation_p.A252E|GPR112_ENST00000394141.1_Missense_Mutation_p.A252E	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	457					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A457E(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTTCACCTGCATCTACTCAT	0.493																																							uc004ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(1369-1371)GCA>GAA		G-protein coupled receptor 112							87.0	76.0	79.0					X																	135427235		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135427235C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1370C>A	X.37:g.135427235C>A	ENSP00000377699:p.Ala457Glu					GPR112_uc010nsb.1_Missense_Mutation_p.A252E|GPR112_uc010nsc.1_Missense_Mutation_p.A224E	p.A457E	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	1661	+	Acute lymphoblastic leukemia(192;0.000127)		457			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.1370C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	3.728	-0.056068	0.07362	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28255	1.66;1.66;1.62;1.76;1.62	3.78	-2.52	0.06346	.	.	.	.	.	T	0.11281	0.0275	N	0.14661	0.345	0.09310	N	1	P;B;B	0.41910	0.764;0.358;0.244	B;B;B	0.30943	0.122;0.107;0.05	T	0.13953	-1.0490	9	0.48119	T	0.1	.	2.8461	0.05543	0.3566:0.2059:0.0:0.4376	.	394;252;457	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	E	457;457;252;394;252	ENSP00000377699:A457E;ENSP00000359686:A457E;ENSP00000416526:A252E;ENSP00000287534:A394E;ENSP00000377697:A252E	ENSP00000287534:A394E	A	+	2	0	GPR112	135254901	0.016000	0.18221	0.000000	0.03702	0.024000	0.10985	-0.116000	0.10724	-0.572000	0.06006	0.411000	0.27672	GCA		0.493	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			13	115	1	0	2.27111e-07	0.001368	3.35891e-07	13	115				
GPR101	83550	broad.mit.edu	37	X	136113029	136113029	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:136113029C>T	ENST00000298110.1	-	1	804	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.E269K(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCCTTGACCTCACCTTCATGC	0.572																																							uc011mwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(805-807)GAG>AAG		G protein-coupled receptor 101							173.0	128.0	143.0					X																	136113029		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113029C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.805G>A	X.37:g.136113029C>T	ENSP00000298110:p.Glu269Lys						p.E269K	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	805	-	Acute lymphoblastic leukemia(192;0.000127)		269			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.805G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	4.715	0.132934	0.09032	.	.	ENSG00000165370	ENST00000298110	T	0.62498	0.02	3.9	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.899723	0.09026	N	0.859512	T	0.44052	0.1275	N	0.22421	0.69	0.20196	N	0.99992	B	0.31705	0.336	B	0.37833	0.259	T	0.36792	-0.9733	10	0.06365	T	0.9	-0.0167	4.7639	0.13123	0.0:0.6607:0.2161:0.1232	.	269	Q96P66	GP101_HUMAN	K	269	ENSP00000298110:E269K	ENSP00000298110:E269K	E	-	1	0	GPR101	135940695	0.229000	0.23729	0.121000	0.21740	0.065000	0.16274	1.309000	0.33539	0.442000	0.26555	-0.217000	0.12591	GAG		0.572	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			29	263	0	0	0	0.00632	0	29	263				
F9	2158	broad.mit.edu	37	X	138644074	138644074	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:138644074T>A	ENST00000218099.2	+	8	1237	c.1230T>A	c.(1228-1230)gaT>gaA	p.D410E	F9_ENST00000394090.2_Missense_Mutation_p.D372E	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	410	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> H (in HEMB; Mechtal). {ECO:0000269|PubMed:1346975}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D410E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GTCAAGGAGATAGTGGGGGAC	0.438																																							uc004fas.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CM057682|CX880095	F9	M|X		c.(1228-1230)GAT>GAA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						115.0	110.0	112.0					X																	138644074		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138644074T>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1230T>A	X.37:g.138644074T>A	ENSP00000218099:p.Asp410Glu					F9_uc004fat.1_Missense_Mutation_p.D372E	p.D410E	NM_000133	NP_000124	P00740	FA9_HUMAN			8	1259	+	Acute lymphoblastic leukemia(192;0.000127)		410		D -> H (in HEMB; Mechtal).	Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1230T>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242720	0.79912	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.95342	-3.68;-3.68	5.66	-1.27	0.09347	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	H	0.96301	3.8	0.54753	D	0.999983	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.985	D	0.97032	0.9751	10	0.87932	D	0	.	12.3456	0.55119	0.0:0.7576:0.0:0.2424	.	372;410	Q5FBE1;P00740	.;FA9_HUMAN	E	410;372	ENSP00000218099:D410E;ENSP00000377650:D372E	ENSP00000218099:D410E	D	+	3	2	F9	138471740	0.988000	0.35896	0.995000	0.50966	0.988000	0.76386	0.318000	0.19504	-0.300000	0.08895	-0.360000	0.07572	GAT		0.438	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			34	153	0	0	0	0.004289	0	34	153				
F9	2158	broad.mit.edu	37	X	138644077	138644077	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:138644077T>G	ENST00000218099.2	+	8	1240	c.1233T>G	c.(1231-1233)agT>agG	p.S411R	F9_ENST00000394090.2_Missense_Mutation_p.S373R	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	411	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		S -> G (in HEMB; Varel). {ECO:0000269|PubMed:1346975}.|S -> I (in HEMB; Schmallenberg). {ECO:0000269|PubMed:1346975}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.S411R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AAGGAGATAGTGGGGGACCCC	0.433																																							uc004fas.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CM940697|CM940698	F9	M		c.(1231-1233)AGT>AGG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						114.0	109.0	111.0					X																	138644077		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138644077T>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1233T>G	X.37:g.138644077T>G	ENSP00000218099:p.Ser411Arg					F9_uc004fat.1_Missense_Mutation_p.S373R	p.S411R	NM_000133	NP_000124	P00740	FA9_HUMAN			8	1262	+	Acute lymphoblastic leukemia(192;0.000127)		411		S -> I (in HEMB; Schmallenberg).|S -> G (in HEMB; Varel).	Peptidase S1.	Charge relay system.	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.1233T>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653363	0.67472	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.96774	-4.12;-4.12	5.66	-1.14	0.09741	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98394	0.9466	H	0.96691	3.865	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97840	1.0268	10	0.87932	D	0	.	11.3254	0.49446	0.0:0.4593:0.0:0.5407	.	373;411	Q5FBE1;P00740	.;FA9_HUMAN	R	411;373	ENSP00000218099:S411R;ENSP00000377650:S373R	ENSP00000218099:S411R	S	+	3	2	F9	138471743	0.001000	0.12720	0.994000	0.49952	0.987000	0.75469	-1.747000	0.01827	-0.277000	0.09193	0.486000	0.48141	AGT		0.433	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			34	150	0	0	0	0.004289	0	34	150				
SLITRK4	139065	broad.mit.edu	37	X	142716499	142716499	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:142716499C>G	ENST00000381779.4	-	2	2651	c.2426G>C	c.(2425-2427)aGt>aCt	p.S809T	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S809T|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S809T	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	809						integral component of membrane (GO:0016021)		p.S809T(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAAATACTCACTCTTCCTTTG	0.423																																							uc004fbx.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2425-2427)AGT>ACT		slit and trk like 4 protein precursor							148.0	126.0	133.0					X																	142716499		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716499C>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2426G>C	X.37:g.142716499C>G	ENSP00000371198:p.Ser809Thr					SLITRK4_uc004fby.2_Missense_Mutation_p.S809T	p.S809T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2802	-	Acute lymphoblastic leukemia(192;6.56e-05)		809			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2426G>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479079	0.63849	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.56611	0.45;0.45;0.45	5.26	4.4	0.53042	.	0.000000	0.85682	U	0.000000	T	0.58278	0.2111	L	0.55481	1.735	0.58432	D	0.999994	P	0.51933	0.949	P	0.53360	0.724	T	0.57388	-0.7820	10	0.44086	T	0.13	-7.5542	11.8421	0.52361	0.0:0.9121:0.0:0.0879	.	809	Q8IW52	SLIK4_HUMAN	T	809	ENSP00000371198:S809T;ENSP00000349400:S809T;ENSP00000336627:S809T	ENSP00000336627:S809T	S	-	2	0	SLITRK4	142544165	0.999000	0.42202	0.978000	0.43139	0.988000	0.76386	4.053000	0.57427	0.999000	0.39023	0.529000	0.55759	AGT		0.423	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		12	132	0	0	0	0.000978	0	12	132				
GPR50	9248	broad.mit.edu	37	X	150345268	150345268	+	Silent	SNP	G	G	T	rs371906230		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:150345268G>T	ENST00000218316.3	+	1	144	c.75G>T	c.(73-75)ccG>ccT	p.P25P	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	25					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.P25P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AATACCCACCGGCTCTAATCA	0.517																																							uc010ntg.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(73-75)CCG>CCT		G protein-coupled receptor 50							95.0	95.0	95.0					X																	150345268		1876	4094	5970	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345268G>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.75G>T	X.37:g.150345268G>T						uc004fes.1_RNA|GPR50_uc011myc.1_Silent_p.P25P	p.P25P	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			1	210	+	Acute lymphoblastic leukemia(192;6.56e-05)		25			Extracellular (Potential).		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.75G>T	CCDS44012.1																																																																																				0.517	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		19	151	1	0	5.03518e-11	0.007413	8.1101e-11	19	151				
CNGA2	1260	broad.mit.edu	37	X	150911089	150911089	+	Silent	SNP	G	G	T	rs146197221	byFrequency	TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:150911089G>T	ENST00000329903.4	+	5	597	c.564G>T	c.(562-564)gcG>gcT	p.A188A		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	188					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A188A(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TCTACATTGCGGACCTCTTCA	0.532																																							uc004fey.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)	3						c.(562-564)GCG>GCT		cyclic nucleotide gated channel alpha 2							194.0	154.0	168.0					X																	150911089		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150911089G>T	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.564G>T	X.37:g.150911089G>T							p.A188A	NM_005140	NP_005131	Q16280	CNGA2_HUMAN			6	788	+	Acute lymphoblastic leukemia(192;6.56e-05)		188			Helical; Name=H2; (Potential).		A0AVD0	Silent	SNP	ENST00000329903.4	37	c.564G>T	CCDS14701.1																																																																																				0.532	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		7	163	1	0	2.0095e-06	0.001984	2.83299e-06	7	163				
PLXNB3	5365	broad.mit.edu	37	X	153039543	153039543	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:153039543T>A	ENST00000361971.5	+	20	3623	c.3509T>A	c.(3508-3510)cTg>cAg	p.L1170Q	PLXNB3_ENST00000538966.1_Missense_Mutation_p.L1193Q|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538282.1_Missense_Mutation_p.L780Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L823Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1170	IPT/TIG 4.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.L1170Q(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCATGTCCTGGATGTGGAG	0.711																																							uc004fii.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(3508-3510)CTG>CAG		plexin B3 isoform 1							10.0	11.0	11.0					X																	153039543		2151	4195	6346	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153039543T>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3509T>A	X.37:g.153039543T>A	ENSP00000355378:p.Leu1170Gln					PLXNB3_uc010nuk.2_Missense_Mutation_p.L1193Q|PLXNB3_uc011mzd.1_Missense_Mutation_p.L809Q|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.2_5'Flank	p.L1170Q	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			20	3683	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1170			IPT/TIG 4.|Extracellular (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.3509T>A	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	T	16.10	3.027417	0.54683	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.14	5.14	0.70334	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.070684	0.56097	D	0.000034	T	0.80460	0.4627	M	0.87547	2.89	0.43065	D	0.994697	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.993;0.996	D	0.83927	0.0304	10	0.87932	D	0	.	11.521	0.50551	0.0:0.0:0.0:1.0	.	823;1193;1170	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	Q	1193;1170;823;780	ENSP00000442736:L1193Q;ENSP00000355378:L1170Q;ENSP00000445569:L823Q;ENSP00000441919:L780Q	ENSP00000355378:L1170Q	L	+	2	0	PLXNB3	152692737	1.000000	0.71417	0.634000	0.29324	0.407000	0.30961	5.788000	0.69020	1.703000	0.51240	0.430000	0.28490	CTG		0.711	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			3	16	0	0	0	0.004672	0	3	16				
IRAK1	3654	broad.mit.edu	37	X	153284753	153284753	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:153284753G>A	ENST00000369980.3	-	3	498	c.331C>T	c.(331-333)Cca>Tca	p.P111S	IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000369974.2_Missense_Mutation_p.P111S|IRAK1_ENST00000393682.1_Missense_Mutation_p.P137S|MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393687.2_Missense_Mutation_p.P111S|IRAK1_ENST00000429936.2_Missense_Mutation_p.P137S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	111	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.P111S(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGTGCCTGGGGACGGAAGC	0.736																																							uc004fjs.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(331-333)CCA>TCA		interleukin-1 receptor-associated kinase 1							12.0	16.0	15.0					X																	153284753		2131	4226	6357	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153284753G>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.331C>T	X.37:g.153284753G>A	ENSP00000358997:p.Pro111Ser					IRAK1_uc004fjr.1_Missense_Mutation_p.P111S|IRAK1_uc004fjt.1_Missense_Mutation_p.P111S|IRAK1_uc010nur.2_Missense_Mutation_p.P111S|IRAK1_uc004fju.2_Missense_Mutation_p.P137S	p.P111S	NM_001569	NP_001560	P51617	IRAK1_HUMAN			3	410	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		111			ProST region.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.331C>T	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142347	0.37825	.	.	ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000444230;ENST00000393687;ENST00000429936	T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37	4.82	2.8	0.32819	DEATH-like (1);	0.276947	0.25774	N	0.028396	T	0.37019	0.0988	L	0.43701	1.375	0.09310	N	1	B;B;B;B	0.33940	0.051;0.433;0.028;0.047	B;B;B;B	0.30029	0.012;0.11;0.008;0.019	T	0.15321	-1.0441	10	0.31617	T	0.26	-6.9374	5.8879	0.18892	0.1173:0.0:0.6783:0.2043	.	137;111;111;111	D3YTB5;P51617-4;P51617;P51617-2	.;.;IRAK1_HUMAN;.	S	111;111;137;107;111;137	ENSP00000358997:P111S;ENSP00000358991:P111S;ENSP00000377287:P137S;ENSP00000399974:P107S;ENSP00000377291:P111S;ENSP00000392662:P137S	ENSP00000358990:P137S	P	-	1	0	IRAK1	152937947	0.957000	0.32711	0.123000	0.21794	0.201000	0.24016	0.988000	0.29616	0.823000	0.34589	0.436000	0.28706	CCA		0.736	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			3	36	0	0	0	0.004672	0	3	36				
F8	2157	broad.mit.edu	37	X	154065930	154065930	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154065930A>T	ENST00000360256.4	-	26	7198	c.6998T>A	c.(6997-6999)gTg>gAg	p.V2333E	SMIM9_ENST00000478043.1_5'Flank|F8_ENST00000330287.6_Missense_Mutation_p.V198E	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2333	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.V2333E(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATCTGGTGCACCCAACTCTG	0.572																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6997-6999)GTG>GAG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						77.0	60.0	66.0					X																	154065930		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154065930A>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6998T>A	X.37:g.154065930A>T	ENSP00000353393:p.Val2333Glu					F8_uc004fms.2_Missense_Mutation_p.V198E	p.V2333E	NM_000132	NP_000123	P00451	FA8_HUMAN			26	7169	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2333			F5/8 type C 2.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.6998T>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	a	0.040	-1.288877	0.01387	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.97209	-4.29;-4.29	4.74	-9.47	0.00594	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	1.150310	0.06257	N	0.693117	D	0.85120	0.5624	N	0.01761	-0.735	0.21675	N	0.999595	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.001	T	0.78595	-0.2143	10	0.37606	T	0.19	1.7773	1.0106	0.01496	0.187:0.1886:0.3335:0.2909	.	2333;198	P00451;Q14286	FA8_HUMAN;.	E	198;2333	ENSP00000327895:V198E;ENSP00000353393:V2333E	ENSP00000327895:V198E	V	-	2	0	F8	153719124	0.000000	0.05858	0.001000	0.08648	0.666000	0.39218	-2.451000	0.01006	-2.521000	0.00497	0.427000	0.28365	GTG		0.572	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	25	0	0	0	0.000248	0	4	25				
F8	2157	broad.mit.edu	37	X	154157435	154157435	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154157435G>T	ENST00000360256.4	-	14	4830	c.4630C>A	c.(4630-4632)Ctt>Att	p.L1544I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1544	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.L1544I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCTGAAGAAGGCTCCCTTCC	0.468																																							uc004fmt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4630-4632)CTT>ATT		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						115.0	112.0	113.0					X																	154157435		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157435G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4630C>A	X.37:g.154157435G>T	ENSP00000353393:p.Leu1544Ile						p.L1544I	NM_000132	NP_000123	P00451	FA8_HUMAN			14	4801	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1544			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.4630C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	1.522	-0.546723	0.04024	.	.	ENSG00000185010	ENST00000360256	D	0.99098	-5.42	5.11	-7.53	0.01336	.	1.239310	0.05451	N	0.549445	D	0.94823	0.8328	L	0.29908	0.895	0.09310	N	1	B	0.27625	0.183	B	0.25140	0.058	D	0.91301	0.5067	10	0.27785	T	0.31	0.0179	0.9748	0.01423	0.4127:0.1106:0.1576:0.3191	.	1544	P00451	FA8_HUMAN	I	1544	ENSP00000353393:L1544I	ENSP00000353393:L1544I	L	-	1	0	F8	153810629	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.269000	0.02834	-1.132000	0.02907	-0.273000	0.10243	CTT		0.468	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			18	221	1	0	5.35267e-07	0.007413	7.84314e-07	18	221				
RAB39B	116442	broad.mit.edu	37	X	154490325	154490325	+	Silent	SNP	G	G	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154490325G>A	ENST00000369454.3	-	2	705	c.405C>T	c.(403-405)cgC>cgT	p.R135R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	135					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.R135R(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGCCTCGTGGCGAGTCACTT	0.493																																							uc004fne.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(403-405)CGC>CGT		RAB39B, member RAS oncogene family							125.0	108.0	114.0					X																	154490325		2203	4300	6503	SO:0001819	synonymous_variant	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490325G>A	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.405C>T	X.37:g.154490325G>A							p.R135R	NM_171998	NP_741995	Q96DA2	RB39B_HUMAN			2	684	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		135					Q5JT79|Q8NEX3	Silent	SNP	ENST00000369454.3	37	c.405C>T	CCDS14766.1																																																																																				0.493	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		20	183	0	0	0	0.008871	0	20	183				
TMLHE	55217	broad.mit.edu	37	X	154736778	154736778	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:154736778C>A	ENST00000334398.3	-	6	921	c.776G>T	c.(775-777)tGt>tTt	p.C259F	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.C259F	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	259					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)	p.C259F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	ATGTTTAAGACAATGAAACAC	0.358																																							uc004fnn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)TGT>TTT		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						105.0	104.0	104.0					X																	154736778		2203	4298	6501	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736778C>A	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.776G>T	X.37:g.154736778C>A	ENSP00000335261:p.Cys259Phe					TMLHE_uc004fno.2_Missense_Mutation_p.C259F|TMLHE_uc004fnp.3_Missense_Mutation_p.C259F	p.C259F	NM_018196	NP_060666	Q9NVH6	TMLH_HUMAN			6	942	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		259					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.776G>T	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.477525	0.44044	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.87412	-2.25;-2.25	4.42	2.59	0.31030	.	0.047258	0.85682	D	0.000000	D	0.91962	0.7454	M	0.85299	2.745	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.70016	0.961;0.967;0.967	D	0.89484	0.3752	10	0.62326	D	0.03	-6.9436	6.408	0.21676	0.1815:0.7152:0.0:0.1033	.	259;259;259	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	F	259	ENSP00000335261:C259F;ENSP00000358447:C259F	ENSP00000335261:C259F	C	-	2	0	TMLHE	154389972	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	5.021000	0.64072	0.270000	0.21984	0.494000	0.49563	TGT		0.358	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		20	216	1	0	4.16121e-05	0.00278	5.55706e-05	20	216				
CSMD2	114784	broad.mit.edu	37	1	34049270	34049270	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:34049270delC	ENST00000373381.4	-	47	7388	c.7212delG	c.(7210-7212)aagfs	p.K2404fs		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2406	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CATCATATTGCTTCTCGCTGA	0.502																																							uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(7216-7218)AAGfs		CUB and Sushi multiple domains 2							159.0	156.0	157.0					1																	34049270		2203	4300	6503	SO:0001589	frameshift_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34049270delC	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7212delG	1.37:g.34049270delC	ENSP00000362479:p.Lys2404fs					CSMD2_uc001bxm.1_Frame_Shift_Del_p.K2404fs	p.K2406fs	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			48	7247	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2406			CUB 14.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Frame_Shift_Del	DEL	ENST00000373381.4	37	c.7218delG																																																																																					0.502	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		23	209	NA	NA	NA	NA	NA	23	209	---	---	---	---
LAMB3	3914	broad.mit.edu	37	1	209799153	209799153	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr1:209799153delT	ENST00000356082.4	-	14	1950	c.1816delA	c.(1816-1818)accfs	p.T606fs	LAMB3_ENST00000367030.3_Frame_Shift_Del_p.T606fs|LAMB3_ENST00000391911.1_Frame_Shift_Del_p.T606fs|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	606	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGCTGGCGGTGGCATTGCGG	0.622																																							uc001hhg.2		NA																	0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(1816-1818)ACCfs		laminin, beta 3 precursor							43.0	43.0	43.0					1																	209799153		2203	4300	6503	SO:0001589	frameshift_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799153delT	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1816delA	1.37:g.209799153delT	ENSP00000348384:p.Thr606fs					LAMB3_uc009xco.2_Frame_Shift_Del_p.T606fs|LAMB3_uc001hhh.2_Frame_Shift_Del_p.T606fs|LAMB3_uc010psl.1_Intron|hsa-mir-4260|MI0015859_5'Flank	p.T606fs	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2206	-			606			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Frame_Shift_Del	DEL	ENST00000356082.4	37	c.1816delA	CCDS1487.1																																																																																				0.622	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		13	70	NA	NA	NA	NA	NA	13	70	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4389086	4389087	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:4389086_4389087insA	ENST00000408920.2	-	1	529_530	c.439_440insT	c.(439-441)tgtfs	p.C147fs		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	147					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACAGTCACACAAATTTTCTTG	0.381																																							uc010qye.1		NA																	0					0						c.(439-441)TGTfs		olfactory receptor, family 52, subfamily B,																																				SO:0001589	frameshift_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389086_4389087insA	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.440dupT	11.37:g.4389089_4389089dupA	ENSP00000386160:p.Cys147fs						p.C147fs	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	439_440	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	147			Helical; Name=4; (Potential).		A6NP68|Q6IFK6	Frame_Shift_Ins	INS	ENST00000408920.2	37	c.439_440insT	CCDS41609.1																																																																																				0.381	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		14	85	NA	NA	NA	NA	NA	14	85	---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118430510	118430512	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	TCC	TCC	-	-	TCC	TCC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr11:118430510_118430512delTCC	ENST00000264021.3	-	3	451_453	c.33_35delGGA	c.(31-36)gaggaa>gaa	p.11_12EE>E	IFT46_ENST00000264020.2_In_Frame_Del_p.11_12EE>E|IFT46_ENST00000527868.1_5'Flank|IFT46_ENST00000530872.1_In_Frame_Del_p.11_12EE>E	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	11					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CTTGTTATTTTCCTCTTCACACT	0.374																																							uc001ptp.1		NA																	0					0						c.(31-36)GAGGAA>GAA		IFT46																																				SO:0001651	inframe_deletion	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118430510_118430512delTCC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.33_35delGGA	11.37:g.118430510_118430512delTCC	ENSP00000264021:p.Glu12del					IFT46_uc001pto.1_In_Frame_Del_p.11_12EE>E|IFT46_uc009zaf.1_In_Frame_Del_p.11_12EE>E	p.11_12EE>E	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN			3	411_413	-			11_12					A8K0F6|Q9H6V5	In_Frame_Del	DEL	ENST00000264021.3	37	c.33_35delGGA	CCDS53718.1																																																																																				0.374	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	NM_020153		10	59	NA	NA	NA	NA	NA	10	59	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124323158	124323158	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr12:124323158delC	ENST00000409039.3	+	28	4729	c.4704delC	c.(4702-4704)ttcfs	p.F1570fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1570	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCAAGGTTCTTCTTCATTT	0.527																																							uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(4702-4704)TTCfs		dynein, axonemal, heavy chain 10							126.0	128.0	127.0					12																	124323158		1977	4158	6135	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124323158delC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4704delC	12.37:g.124323158delC	ENSP00000386770:p.Phe1570fs						p.F1568fs	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	28	4729	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1568			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.4704delC	CCDS9255.2																																																																																				0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			17	107	NA	NA	NA	NA	NA	17	107	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10861452	10861466	+	In_Frame_Del	DEL	CATCCTGGCATGGGC	CATCCTGGCATGGGC	-	rs199758967		TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	CATCCTGGCATGGGC	CATCCTGGCATGGGC	-	-	CATCCTGGCATGGGC	CATCCTGGCATGGGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr3:10861452_10861466delCATCCTGGCATGGGC	ENST00000254488.2	+	3	513_527	c.447_461delCATCCTGGCATGGGC	c.(445-462)atcatcctggcatgggcc>atc	p.ILAWA150del	SLC6A11_ENST00000454147.1_In_Frame_Del_p.ILAWA150del	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	150					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|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 binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	ACTACATCATCATCCTGGCATGGGCCATTTTTTAC	0.488																																							uc003bvz.2		NA																	0				skin(3)|ovary(1)	4						c.(445-462)ATCATCCTGGCATGGGCC>ATC		solute carrier family 6 (neurotransmitter																																				SO:0001651	inframe_deletion	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10861452_10861466delCATCCTGGCATGGGC	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.447_461delCATCCTGGCATGGGC	3.37:g.10861452_10861466delCATCCTGGCATGGGC	ENSP00000254488:p.Ile150_Ala154del					SLC6A11_uc003bvy.1_In_Frame_Del_p.ILAWA150del	p.ILAWA150del	NM_014229	NP_055044	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	3	481_495	+			150_154			Extracellular (Potential).		B2R6U6|Q8IYC9	In_Frame_Del	DEL	ENST00000254488.2	37	c.447_461delCATCCTGGCATGGGC	CCDS2602.1																																																																																				0.488	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		12	153	NA	NA	NA	NA	NA	12	153	---	---	---	---
HADH	3033	broad.mit.edu	37	4	108948874	108948875	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr4:108948874_108948875insT	ENST00000309522.3	+	6	816_817	c.667_668insT	c.(667-669)ctgfs	p.L223fs	HADH_ENST00000510728.1_3'UTR|HADH_ENST00000505878.1_Frame_Shift_Ins_p.L227fs|HADH_ENST00000603302.1_Frame_Shift_Ins_p.L223fs|HADH_ENST00000403312.1_Frame_Shift_Ins_p.L282fs|HADH_ENST00000454409.2_Frame_Shift_Ins_p.L227fs	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	551					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GAACCGCCTCCTGGTTCCATAC	0.47																																							uc003hyq.2		NA																	0				ovary(1)	1						c.(667-669)CTGfs		L-3-hydroxyacyl-Coenzyme A dehydrogenase	NADH(DB00157)																																			SO:0001589	frameshift_variant	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108948874_108948875insT	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.668dupT	4.37:g.108948875_108948875dupT	ENSP00000312288:p.Leu223fs					HADH_uc010ilx.2_Frame_Shift_Ins_p.L223fs|HADH_uc010ily.2_Frame_Shift_Ins_p.L46fs|HADH_uc003hyr.2_Frame_Shift_Ins_p.L227fs	p.L223fs	NM_005327	NP_005318	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	6	816_817	+		Hepatocellular(203;0.217)	223					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Frame_Shift_Ins	INS	ENST00000309522.3	37	c.667_668insT	CCDS3678.1																																																																																				0.470	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		28	89	NA	NA	NA	NA	NA	28	89	---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30131581	30131582	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:30131581_30131582delCC	ENST00000376694.4	+	1	589_590	c.120_121delCC	c.(118-123)ctccccfs	p.P41fs	TRIM10_ENST00000449742.2_5'Flank|TRIM15_ENST00000376688.1_Frame_Shift_Del_p.P41fs|TRIM10_ENST00000376704.3_5'Flank	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	41					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGCTCTGCCTCCCCGCGCTCTC	0.663																																							uc010jrx.2		NA																	0					0						c.(118-123)CTCCCCfs		tripartite motif protein 15																																				SO:0001589	frameshift_variant	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30131581_30131582delCC	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.120_121delCC	6.37:g.30131583_30131584delCC	ENSP00000365884:p.Pro41fs					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	p.L40fs	NM_033229	NP_150232	Q9C019	TRI15_HUMAN			1	599_600	+			40_41			RING-type.		A2BEC9|O95604|Q8IUX9|Q9C018	Frame_Shift_Del	DEL	ENST00000376694.4	37	c.120_121delCC	CCDS4677.1																																																																																				0.663	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		9	52	NA	NA	NA	NA	NA	9	52	---	---	---	---
FANCE	2178	broad.mit.edu	37	6	35424046	35424046	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:35424046delG	ENST00000229769.2	+	2	956	c.771delG	c.(769-771)atgfs	p.M257fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	257	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						AGCCTGTCATGGCAGTTAAGA	0.498			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc003oko.1		NA	yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	N|F|S	"""Fanconi anemia, complementation group E"""			L		AML|leukemia			0				ovary(1)|lung(1)|skin(1)	3						c.(769-771)ATGfs	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group E							144.0	134.0	137.0					6																	35424046		2203	4300	6503	SO:0001589	frameshift_variant	2178	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm	protein binding	g.chr6:35424046delG	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.771delG	6.37:g.35424046delG	ENSP00000229769:p.Met257fs					FANCE_uc010jvw.1_Frame_Shift_Del_p.M257fs	p.M257fs	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN			2	956	+			257			Interaction with FANCC.		A8K907|Q4ZGH2	Frame_Shift_Del	DEL	ENST00000229769.2	37	c.771delG	CCDS4805.1																																																																																				0.498	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040282.1			48	180	NA	NA	NA	NA	NA	48	180	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84922740	84922740	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr6:84922740delT	ENST00000403245.3	-	6	620	c.506delA	c.(505-507)aatfs	p.N169fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.N93fs	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GTTGGCTTGATTACTGGaaaa	0.284																																							uc010kbp.2		NA																	0				ovary(1)	1						c.(505-507)AATfs		KIAA1009 protein							47.0	44.0	45.0					6																	84922740		2180	4270	6450	SO:0001589	frameshift_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84922740delT																												ENST00000403245.3:c.506delA	6.37:g.84922740delT	ENSP00000385215:p.Asn169fs					KIAA1009_uc003pkj.3_Frame_Shift_Del_p.N93fs|KIAA1009_uc003pkk.2_Frame_Shift_Del_p.N169fs	p.N169fs	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	6	603	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	169						Frame_Shift_Del	DEL	ENST00000403245.3	37	c.506delA	CCDS34494.2																																																																																				0.284	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
STEAP1	26872	broad.mit.edu	37	7	89790346	89790352	+	Frame_Shift_Del	DEL	ATATTTT	ATATTTT	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	ATATTTT	ATATTTT	-	-	ATATTTT	ATATTTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:89790346_89790352delATATTTT	ENST00000297205.2	+	3	512_518	c.312_318delATATTTT	c.(310-318)caatattttfs	p.QYF104fs	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	104					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CCCATCAACAATATTTTTATAAAATTC	0.396																																							uc003ujx.2		NA																	0					0						c.(310-318)CAATATTTTfs		six transmembrane epithelial antigen of the																																				SO:0001589	frameshift_variant	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790346_89790352delATATTTT	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.312_318delATATTTT	7.37:g.89790346_89790352delATATTTT	ENSP00000297205:p.Gln104fs					STEAP1_uc010lem.2_Frame_Shift_Del_p.Q104fs	p.Q104fs	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			3	512_518	+	all_hematologic(106;0.112)		104_106					A4D1E0|O95034	Frame_Shift_Del	DEL	ENST00000297205.2	37	c.312_318delATATTTT	CCDS5614.1																																																																																				0.396	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		26	95	NA	NA	NA	NA	NA	26	95	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107569639	107569640	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr7:107569639_107569640insTT	ENST00000222399.6	-	31	4986_4987	c.4756_4757insAA	c.(4756-4758)acafs	p.T1586fs	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Frame_Shift_Ins_p.T1610fs	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1586	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTTAACATCTGTTGCACTTTTG	0.386																																							uc003vew.2		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8						c.(4756-4758)ACAfs		laminin, beta 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569639_107569640insTT	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4755_4756dupAA	7.37:g.107569640_107569641dupTT	ENSP00000222399:p.Thr1586fs					LAMB1_uc003vev.2_Frame_Shift_Ins_p.T1610fs|LAMB1_uc003veu.2_Frame_Shift_Ins_p.T69fs	p.T1586fs	NM_002291	NP_002282	P07942	LAMB1_HUMAN			31	5091_5092	-			1586			Potential.|Domain I.		Q14D91	Frame_Shift_Ins	INS	ENST00000222399.6	37	c.4756_4757insAA	CCDS5750.1																																																																																				0.386	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		20	139	NA	NA	NA	NA	NA	20	139	---	---	---	---
LPAR1	1902	broad.mit.edu	37	9	113704241	113704241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chr9:113704241delA	ENST00000374431.3	-	4	636	c.253delT	c.(253-255)tatfs	p.Y86fs	LPAR1_ENST00000374430.2_Frame_Shift_Del_p.Y86fs|LPAR1_ENST00000358883.4_Frame_Shift_Del_p.Y86fs|LPAR1_ENST00000538760.1_Frame_Shift_Del_p.Y87fs|LPAR1_ENST00000541779.1_Frame_Shift_Del_p.Y87fs	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	86					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTAGGTAATAAATAGGAAAA	0.458																																					NSCLC(115;661 2323 9836 34256)	NSCLC(115;661 2323 9836 34256)	uc004bfa.2		NA																	0				ovary(2)	2						c.(253-255)TATfs		lysophosphatidic acid receptor 1							89.0	96.0	94.0					9																	113704241		2203	4300	6503	SO:0001589	frameshift_variant	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704241delA	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.253delT	9.37:g.113704241delA	ENSP00000363553:p.Tyr86fs					LPAR1_uc011lwm.1_Frame_Shift_Del_p.Y86fs|LPAR1_uc004bfb.2_Frame_Shift_Del_p.Y85fs|LPAR1_uc004bfc.2_Frame_Shift_Del_p.Y85fs|LPAR1_uc011lwn.1_Frame_Shift_Del_p.Y67fs|LPAR1_uc011lwo.1_Frame_Shift_Del_p.Y86fs|LPAR1_uc010mub.2_Frame_Shift_Del_p.Y85fs	p.Y85fs	NM_057159	NP_476500	Q92633	LPAR1_HUMAN			4	508	-			85			Helical; Name=2; (Potential).		B4DK36|O00656|O00722|P78351	Frame_Shift_Del	DEL	ENST00000374431.3	37	c.253delT	CCDS6777.1																																																																																				0.458	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		21	109	NA	NA	NA	NA	NA	21	109	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5821268	5821269	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:5821268_5821269insA	ENST00000381095.3	-	5	2077_2078	c.1450_1451insT	c.(1450-1452)tggfs	p.W484fs	NLGN4X_ENST00000538097.1_Frame_Shift_Ins_p.W484fs|NLGN4X_ENST00000381092.1_Frame_Shift_Ins_p.W484fs|NLGN4X_ENST00000381093.2_Frame_Shift_Ins_p.W504fs|NLGN4X_ENST00000275857.6_Frame_Shift_Ins_p.W484fs	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	484					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAATCTGCCCAGCTGGGCTTC	0.594																																							uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1450-1452)TGGfs		X-linked neuroligin 4 precursor																																				SO:0001589	frameshift_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821268_5821269insA	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1451dupT	X.37:g.5821269_5821269dupA	ENSP00000370485:p.Trp484fs					NLGN4X_uc004crp.2_Frame_Shift_Ins_p.W504fs|NLGN4X_uc004crq.2_Frame_Shift_Ins_p.W484fs|NLGN4X_uc010ndi.2_Frame_Shift_Ins_p.W521fs|NLGN4X_uc004crr.2_Frame_Shift_Ins_p.W484fs|NLGN4X_uc010ndj.2_Frame_Shift_Ins_p.W484fs	p.W484fs	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1951_1952	-			484			Extracellular (Potential).		Q6UX10|Q9ULG0	Frame_Shift_Ins	INS	ENST00000381095.3	37	c.1450_1451insT	CCDS14126.1																																																																																				0.594	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		12	118	NA	NA	NA	NA	NA	12	118	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71426054	71426055	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6777-01A-11D-1855-08	TCGA-44-6777-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	32a0f0f3-3879-4b96-b9bb-eeab87827f6e	2caae538-5cfd-474a-8619-f44f80e1ac9f	g.chrX:71426054_71426055insT	ENST00000334463.3	-	2	2697_2698	c.2562_2563insA	c.(2560-2565)caagagfs	p.E855fs	ERCC6L_ENST00000373657.1_Frame_Shift_Ins_p.E732fs|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	855					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCAGTGCCTCTTGCTTAGGCC	0.366																																							uc004eaq.1		NA																	0				ovary(3)	3						c.(2560-2565)CAAGAGfs		excision repair protein ERCC6-like																																				SO:0001589	frameshift_variant	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71426054_71426055insT	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2563dupA	X.37:g.71426056_71426056dupT	ENSP00000334675:p.Glu855fs					PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Frame_Shift_Ins_p.Q731fs	p.Q854fs	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			2	2659_2660	-	Renal(35;0.156)		854_855					Q8NCI1|Q96H93|Q9NXQ8	Frame_Shift_Ins	INS	ENST00000334463.3	37	c.2562_2563insA	CCDS35329.1																																																																																				0.366	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		10	70	NA	NA	NA	NA	NA	10	70	---	---	---	---
