#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CHD5	26038	broad.mit.edu	37	1	6172293	6172293	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:6172293T>G	ENST00000262450.3	-	35	5146	c.5047A>C	c.(5047-5049)Aat>Cat	p.N1683H	CHD5_ENST00000378021.1_Missense_Mutation_p.N540H	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTCACCATTTTGCTGTGTT	0.512																																						uc001amb.2																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5047-5049)Aat>Cat		Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.							268.0	219.0	236.0					1																	6172293		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6172293T>G	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5047A>C	1.37:g.6172293T>G	ENSP00000262450:p.Asn1683His					CHD5_uc001alz.2_Missense_Mutation_p.N540H|CHD5_uc001ama.2_Non-coding_Transcript	p.N1683H	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	34	5158	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1683					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5047A>C	CCDS57.1	.	.	.	.	.	.	.	.	.	.	t	24.8	4.565722	0.86439	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91351	-2.83;2.13	4.3	4.3	0.51218	.	0.067807	0.56097	D	0.000025	D	0.86560	0.5962	L	0.29908	0.895	0.49483	D	0.999796	D;P	0.56968	0.978;0.769	P;B	0.45881	0.496;0.332	D	0.87015	0.2125	10	0.46703	T	0.11	-20.7673	13.7608	0.62966	0.0:0.0:0.0:1.0	.	1683;540	Q8TDI0;Q5TG85	CHD5_HUMAN;.	H	1683;540;540	ENSP00000262450:N1683H;ENSP00000367260:N540H	ENSP00000262450:N1683H	N	-	1	0	CHD5	6094880	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.513000	0.81739	1.719000	0.51432	0.482000	0.46254	AAT		0.512	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
AIM1L	55057	broad.mit.edu	37	1	26658052	26658052	+	Silent	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:26658052G>A	ENST00000308182.5	-	14	1536	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	AIM1L_ENST00000527815.1_Silent_p.G540G			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	369	Beta/gamma crystallin 'Greek key' 8. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-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;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567																																						uc001bmd.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12						c.(4240-4242)ggC>ggT		Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.							116.0	96.0	102.0					1																	26658052		2203	4300	6503	SO:0001819	synonymous_variant	55057						sugar binding	g.chr1:26658052G>A			1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1107C>T	1.37:g.26658052G>A							p.G1414G	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)	14	4392	-		all_cancers(24;4.67e-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)	369					B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37	c.4242C>T																																																																																					0.567	AIM1L-201	KNOWN	basic	protein_coding	protein_coding		NM_001039775.2	
CFAP57	149465	broad.mit.edu	37	1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	rs372200685		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	RNA5SP46_ENST00000362370.1_RNA|WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458																																						uc021omk.1																			1	Substitution - Missense(1)	p.R400H(2)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1198-1200)cGc>cAc		Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	180.0	153.0	162.0		1199,1199,1199	5.8	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/699,400/699,400/699	43663300	1,13005	2203	4300	6503	SO:0001583	missense	149465							g.chr1:43663300G>A																												ENST00000372492.4:c.1199G>A	1.37:g.43663300G>A	ENSP00000361570:p.Arg400His					EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R389H|WDR65_uc001ciq.2_Missense_Mutation_p.R400H|WDR65_uc001cip.2_Missense_Mutation_p.R400H	p.R400H	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN			6	1345	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	400					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.497360	0.96355	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.39997	1.05;3.58	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.75085	2.285	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.57400	-0.7818	10	0.15499	T	0.54	.	19.9634	0.97258	0.0:0.0:1.0:0.0	.	400;400	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	400	ENSP00000361570:R400H;ENSP00000435310:R400H	ENSP00000361570:R400H	R	+	2	0	WDR65	43435887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.209000	0.95087	2.721000	0.93114	0.563000	0.77884	CGC		0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
PTPRF	5792	broad.mit.edu	37	1	44069848	44069848	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:44069848C>T	ENST00000359947.4	+	16	3365	c.3025C>T	c.(3025-3027)Ccg>Tcg	p.P1009S	PTPRF_ENST00000438120.1_Missense_Mutation_p.P1000S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P1009S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P1000S|PTPRF_ENST00000422171.2_Missense_Mutation_p.P357S|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1009	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGACCATGCCGGTGGAGCA	0.617																																						uc001cjr.3																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3025-3027)Ccg>Tcg		Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.							66.0	61.0	63.0					1																	44069848		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069848C>T	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3025C>T	1.37:g.44069848C>T	ENSP00000353030:p.Pro1009Ser					PTPRF_uc001cjs.3_Missense_Mutation_p.P1000S|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.P569S|PTPRF_uc001cjv.3_Missense_Mutation_p.P469S|PTPRF_uc001cjw.3_Missense_Mutation_p.P235S	p.P1009S	NM_002840	NP_002831	P10586	PTPRF_HUMAN			15	3365	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1009					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3025C>T	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148183|2.148183	0.37923|0.37923	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000414879|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171	.|T;T;T;T;T	.|0.58210	.|0.35;0.37;0.35;0.37;2.25	4.92|4.92	4.92|4.92	0.64577|0.64577	.|Fibronectin, type III (1);	.|0.000000	.|0.34002	.|N	.|0.004350	T|T	0.49474|0.49474	0.1559|0.1559	N|N	0.03268|0.03268	-0.37|-0.37	0.58432|0.58432	D|D	0.999996|0.999996	.|B;B;D;B	.|0.67145	.|0.008;0.038;0.996;0.034	.|B;B;D;B	.|0.78314	.|0.013;0.01;0.991;0.021	T|T	0.53899|0.53899	-0.8373|-0.8373	5|10	.|0.15952	.|T	.|0.53	.|.	18.5158|18.5158	0.90935|0.90935	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|654;357;1000;1009	.|Q59FI2;F2Z3B8;P10586-2;P10586	.|.;.;.;PTPRF_HUMAN	V|S	422|1009;1000;1009;1000;357	.|ENSP00000353030:P1009S;ENSP00000398822:P1000S;ENSP00000361491:P1009S;ENSP00000361490:P1000S;ENSP00000387885:P357S	.|ENSP00000353030:P1009S	A|P	+|+	2|1	0|0	PTPRF|PTPRF	43842435|43842435	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	1.871000|1.871000	0.39539|0.39539	2.429000|2.429000	0.82318|0.82318	0.563000|0.563000	0.77884|0.77884	GCC|CCG		0.617	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1		
TCHH	7062	broad.mit.edu	37	1	152080572	152080572	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152080572T>A	ENST00000368804.1	-	2	5120	c.5121A>T	c.(5119-5121)agA>agT	p.R1707S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1707	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAATTTTCTCTCTCGTT	0.587																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(5119-5121)agA>agT		Homo sapiens trichohyalin (TCHH), mRNA.							68.0	67.0	67.0					1																	152080572		1880	4119	5999	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152080572T>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.5121A>T	1.37:g.152080572T>A	ENSP00000357794:p.Arg1707Ser					TCHH_uc001ezp.2_Missense_Mutation_p.R1707S	p.R1707S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	5393	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1707			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.5121A>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	7.825	0.718523	0.15372	.	.	ENSG00000159450	ENST00000368804	T	0.05258	3.47	2.77	-1.83	0.07833	.	.	.	.	.	T	0.01800	0.0057	L	0.61218	1.895	0.09310	N	1	P	0.42827	0.791	B	0.32393	0.145	T	0.40136	-0.9579	9	0.66056	D	0.02	.	4.0162	0.09646	0.0:0.2477:0.3609:0.3914	.	1707	Q07283	TRHY_HUMAN	S	1707	ENSP00000357794:R1707S	ENSP00000357794:R1707S	R	-	3	2	TCHH	150347196	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-0.212000	0.10109	0.378000	0.23410	AGA		0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
TCHH	7062	broad.mit.edu	37	1	152081047	152081047	+	Missense_Mutation	SNP	C	C	T	rs181128140	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152081047C>T	ENST00000368804.1	-	2	4645	c.4646G>A	c.(4645-4647)cGg>cAg	p.R1549Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1549	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACGCCGCTGTTGCCC	0.607																																						uc009wne.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4645-4647)cGg>cAg		Homo sapiens trichohyalin (TCHH), mRNA.							52.0	53.0	53.0					1																	152081047		1878	4099	5977	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081047C>T	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4646G>A	1.37:g.152081047C>T	ENSP00000357794:p.Arg1549Gln					TCHH_uc001ezp.2_Missense_Mutation_p.R1549Q	p.R1549Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4918	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1549			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4646G>A	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	10.97	1.502225	0.26949	.	.	ENSG00000159450	ENST00000368804	T	0.07444	3.19	3.27	-5.74	0.02391	.	.	.	.	.	T	0.01800	0.0057	L	0.48642	1.525	0.09310	N	1	B	0.24258	0.1	B	0.15052	0.012	T	0.44742	-0.9308	9	0.12766	T	0.61	.	11.1139	0.48249	0.1914:0.6894:0.0:0.1192	.	1549	Q07283	TRHY_HUMAN	Q	1549	ENSP00000357794:R1549Q	ENSP00000357794:R1549Q	R	-	2	0	TCHH	150347671	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.595000	0.02093	-1.107000	0.03004	-1.382000	0.01172	CGG		0.607	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
OR2M2	391194	broad.mit.edu	37	1	248344068	248344068	+	Missense_Mutation	SNP	C	C	T	rs150685608		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:248344068C>T	ENST00000359682.2	+	1	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.517																																						uc010pzf.2																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70						c.(781-783)Cgg>Tgg		Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.		C	TRP/ARG	0,4406		0,0,2203	223.0	198.0	207.0		781	-0.5	0.0	1	dbSNP_134	207	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR2M2	NM_001004688.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	261/348	248344068	1,13005	2203	4300	6503	SO:0001583	missense	391194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248344068C>T	AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.781C>T	1.37:g.248344068C>T	ENSP00000352710:p.Arg261Trp						p.R261W	NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		0	781	+	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)		261					A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	c.781C>T	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	c	5.583	0.292304	0.10567	0.0	1.16E-4	ENSG00000198601	ENST00000359682	T	0.37915	1.17	2.03	-0.471	0.12119	GPCR, rhodopsin-like superfamily (1);	0.786555	0.09970	U	0.732317	T	0.40247	0.1109	M	0.84773	2.715	0.09310	N	1	B	0.25351	0.124	B	0.27170	0.077	T	0.43360	-0.9396	10	0.51188	T	0.08	.	5.9568	0.19277	0.5965:0.246:0.1574:0.0	.	261	Q96R28	OR2M2_HUMAN	W	261	ENSP00000352710:R261W	ENSP00000352710:R261W	R	+	1	2	OR2M2	246410691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.955000	0.01523	-0.254000	0.09500	-0.552000	0.04208	CGG		0.517	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
C10orf113	387638	broad.mit.edu	37	10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:21435284G>A	ENST00000534331.1	-	1	204	c.154C>T	c.(154-156)Cca>Tca	p.P52S	C10orf113_ENST00000529198.1_Missense_Mutation_p.P52S|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Missense_Mutation_p.P42S	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443																																						uc001iqm.3																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						c.(154-156)Cca>Tca		Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.							146.0	128.0	134.0					10																	21435284		2203	4300	6503	SO:0001583	missense	387638							g.chr10:21435284G>A		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.154C>T	10.37:g.21435284G>A	ENSP00000433646:p.Pro52Ser					NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.P52S	p.P52S	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN			0	205	-			52					B9EIM9|E9PRX7	Missense_Mutation	SNP	ENST00000534331.1	37	c.154C>T	CCDS31162.2	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300961	0.40694	.	.	ENSG00000204683	ENST00000534331;ENST00000529198;ENST00000377118	T;T	0.40225	1.04;1.04	5.12	3.25	0.37280	.	.	.	.	.	T	0.34424	0.0897	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.10109	-1.0644	9	0.87932	D	0	-1.0583	6.2323	0.20742	0.0933:0.0:0.7237:0.183	.	52	Q5VZT2	CJ113_HUMAN	S	52;52;42	ENSP00000433646:P52S;ENSP00000366322:P42S	ENSP00000366322:P42S	P	-	1	0	C10orf113	21475290	0.006000	0.16342	0.025000	0.17156	0.403000	0.30841	1.189000	0.32114	0.728000	0.32382	0.655000	0.94253	CCA		0.443	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	NM_001010896	
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		90	Whole gene deletion(37)|Substitution - Missense(32)|Deletion - Frameshift(13)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	p.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(1)	central_nervous_system(31)|endometrium(16)|prostate(16)|skin(9)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM074467	PTEN	M	rs121913293	c.(517-519)Cgc>Tgc		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							126.0	130.0	129.0					10																	89711899		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711899C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.517C>T	10.37:g.89711899C>T	ENSP00000361021:p.Arg173Cys	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.R173C	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1549	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	173		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.517C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207402	0.95033	.	.	ENSG00000171862	ENST00000371953	D	0.98926	-5.24	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.048960	0.85682	D	0.000000	D	0.99468	0.9811	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.98423	1.0578	9	.	.	.	0.9169	19.9308	0.97118	0.0:1.0:0.0:0.0	.	173	P60484	PTEN_HUMAN	C	173	ENSP00000361021:R173C	.	R	+	1	0	PTEN	89701879	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	CGC		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
DNMBP	23268	broad.mit.edu	37	10	101654794	101654794	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:101654794A>G	ENST00000324109.4	-	11	3156	c.3065T>C	c.(3064-3066)gTa>gCa	p.V1022A	DNMBP_ENST00000342239.3_Missense_Mutation_p.V1046A|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000543621.1_Missense_Mutation_p.V268A	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1022	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCTTCAAATACTTCATCTTT	0.353																																						uc001kqj.2																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3064-3066)gTa>gCa		Homo sapiens dynamin binding protein (DNMBP), mRNA.							109.0	95.0	99.0					10																	101654794		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101654794A>G	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3065T>C	10.37:g.101654794A>G	ENSP00000315659:p.Val1022Ala					DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.V310A|DNMBP_uc001kqh.2_Missense_Mutation_p.V654A	p.V1022A	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	10	3157	-		Colorectal(252;0.234)	1022			BAR.		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.3065T>C	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	A	6.739	0.505086	0.12822	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.59224	0.28;0.28;0.28	5.55	-4.15	0.03881	BAR (3);	0.988073	0.08218	N	0.979651	T	0.23688	0.0573	N	0.00707	-1.245	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.06405	0.002;0.0;0.002	T	0.43653	-0.9378	10	0.08837	T	0.75	-2.371	16.97	0.86296	0.1825:0.0:0.8175:0.0	.	1022;268;1046	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	A	1046;1022;268;268	ENSP00000344914:V1046A;ENSP00000315659:V1022A;ENSP00000443657:V268A	ENSP00000315659:V1022A	V	-	2	0	DNMBP	101644784	1.000000	0.71417	0.972000	0.41901	0.952000	0.60782	1.216000	0.32443	-0.667000	0.05303	-0.417000	0.06048	GTA		0.353	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221	
SORCS1	114815	broad.mit.edu	37	10	108389034	108389034	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:108389034C>T	ENST00000263054.6	-	19	2595	c.2588G>A	c.(2587-2589)gGc>gAc	p.G863D	SORCS1_ENST00000369698.1_Missense_Mutation_p.G398D|SORCS1_ENST00000344440.6_Missense_Mutation_p.G863D	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	863	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.G863D(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGGAAAATGCCCACGTTCTG	0.483																																						uc001kyl.3																			2	Substitution - Missense(2)	p.G863D(3)	endometrium(2)	breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(2587-2589)gGc>gAc		Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.							161.0	116.0	131.0					10																	108389034		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108389034C>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.2588G>A	10.37:g.108389034C>T	ENSP00000263054:p.Gly863Asp					SORCS1_uc021pxw.1_Missense_Mutation_p.G863D|SORCS1_uc009xxs.3_Missense_Mutation_p.G863D|SORCS1_uc001kym.3_Missense_Mutation_p.G863D|SORCS1_uc001kyn.2_Missense_Mutation_p.G863D|SORCS1_uc001kyo.3_Missense_Mutation_p.G863D	p.G863D	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	18	2770	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	863			PKD.		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.2588G>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237074	0.95240	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	D;D;D	0.94457	-3.43;-3.43;-3.43	5.82	5.82	0.92795	PKD/Chitinase domain (1);PKD domain (4);	0.000000	0.85682	D	0.000000	D	0.97297	0.9116	M	0.77313	2.365	0.58432	D	0.999999	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	0.96698	0.9516	9	.	.	.	-23.91	20.1001	0.97870	0.0:1.0:0.0:0.0	.	863;863;863;863;863	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	D	398;863;863	ENSP00000358712:G398D;ENSP00000263054:G863D;ENSP00000345964:G863D	.	G	-	2	0	SORCS1	108379024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	GGC		0.483	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918	
RAB11FIP2	22841	broad.mit.edu	37	10	119798511	119798511	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:119798511T>C	ENST00000355624.3	-	3	1676	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R413G|RP11-354M20.3_ENST00000417968.4_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	413					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTGAAGCCCTGAATTTTGCT	0.343																																						uc001ldj.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19						c.(1237-1239)Agg>Ggg		Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.							118.0	119.0	119.0					10																	119798511		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798511T>C	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1237A>G	10.37:g.119798511T>C	ENSP00000347839:p.Arg413Gly					RAB11FIP2_uc009xyz.2_Missense_Mutation_p.R413G	p.R413G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	2	1677	-		Colorectal(252;0.235)	413					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.1237A>G	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.325955	0.41197	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.70749	-0.51;-0.25	5.86	5.86	0.93980	.	0.222000	0.52532	D	0.000061	T	0.63640	0.2528	L	0.43152	1.355	0.46749	D	0.999185	P;B	0.35656	0.514;0.156	B;B	0.29716	0.106;0.026	T	0.66976	-0.5787	10	0.62326	D	0.03	-19.6849	16.5602	0.84551	0.0:0.0:0.0:1.0	.	413;413	Q3I768;Q7L804	.;RFIP2_HUMAN	G	413	ENSP00000347839:R413G;ENSP00000358200:R413G	ENSP00000347839:R413G	R	-	1	2	RAB11FIP2	119788501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.461000	0.66699	2.367000	0.80283	0.528000	0.53228	AGG		0.343	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904	
GRM5	2915	broad.mit.edu	37	11	88780659	88780659	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr11:88780659G>A	ENST00000305447.4	-	1	531	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	GRM5_ENST00000418177.2_Missense_Mutation_p.R128C|GRM5_ENST00000455756.2_Missense_Mutation_p.R128C|GRM5_ENST00000305432.5_Missense_Mutation_p.R128C|GRM5_ENST00000393294.3_Missense_Mutation_p.R128C|GRM5_ENST00000393297.1_Missense_Mutation_p.R128C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	128					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCCACACAGCGTACCAAGCCT	0.522																																						uc001pcq.3																			0		p.R128H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(382-384)Cgc>Tgc		Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	Acamprosate(DB00659)						83.0	72.0	76.0					11																	88780659		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780659G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.382C>T	11.37:g.88780659G>A	ENSP00000306138:p.Arg128Cys					GRM5_uc009yvm.3_Missense_Mutation_p.R128C|GRM5_uc009yvn.2_Missense_Mutation_p.R128C	p.R128C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			0	582	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	128					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.382C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209344	0.39003	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.115400	0.64402	D	0.000017	D	0.87873	0.6287	L	0.55990	1.75	0.58432	D	0.999996	D;B;D	0.76494	0.998;0.001;0.999	D;B;D	0.65443	0.935;0.001;0.91	D	0.87023	0.2130	9	.	.	.	.	14.8562	0.70338	0.0:0.0:0.8557:0.1443	.	128;128;128	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	C	128	ENSP00000402912:R128C;ENSP00000405690:R128C;ENSP00000305905:R128C;ENSP00000306138:R128C;ENSP00000376975:R128C;ENSP00000376972:R128C	.	R	-	1	0	GRM5	88420307	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.292000	0.43549	2.514000	0.84764	0.563000	0.77884	CGC		0.522	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
ANO4	121601	broad.mit.edu	37	12	101480464	101480464	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr12:101480464C>T	ENST00000392977.3	+	17	1773	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ANO4_ENST00000392979.3_Silent_p.F486F|ANO4_ENST00000299222.9_Silent_p.F41F|ANO4_ENST00000550015.1_Silent_p.F41F			Q32M45	ANO4_HUMAN	anoctamin 4	521					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCCGTGTTCGGGATCGTCA	0.517										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1561-1563)ttC>ttT		Homo sapiens anoctamin 4 (ANO4), mRNA.							400.0	331.0	354.0					12																	101480464		2203	4300	6503	SO:0001819	synonymous_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101480464C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1563C>T	12.37:g.101480464C>T		HNSCC(74;0.22)				ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	p.F521F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			16	2135	+			521					Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	ENST00000392977.3	37	c.1563C>T																																																																																					0.517	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
EML1	2009	broad.mit.edu	37	14	100363508	100363508	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr14:100363508G>A	ENST00000262233.6	+	7	843	c.704G>A	c.(703-705)cGt>cAt	p.R235H	EML1_ENST00000334192.4_Missense_Mutation_p.R254H|EML1_ENST00000327921.9_Missense_Mutation_p.R223H	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	235	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CGAGACTGCCGTAACAACCTG	0.468																																						uc001ygr.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(760-762)cGt>cAt		Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.							124.0	110.0	115.0					14																	100363508		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363508G>A	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.704G>A	14.37:g.100363508G>A	ENSP00000262233:p.Arg235His					EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.2_Missense_Mutation_p.R223H|EML1_uc001ygq.3_Missense_Mutation_p.R254H|EML1_uc001ygs.3_Missense_Mutation_p.R235H	p.R254H	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN			7	830	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	235					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.761G>A	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	34	5.347710	0.95807	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	5.29	5.29	0.74685	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.099111	0.64402	D	0.000001	T	0.81346	0.4803	M	0.90252	3.1	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	0.79108	0.949;0.958;0.992;0.984;0.983	D	0.85426	0.1146	10	0.87932	D	0	-18.3775	18.9498	0.92637	0.0:0.0:1.0:0.0	.	223;223;235;254;254	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	H	222;223;235;254;254;204	ENSP00000451346:R222H;ENSP00000327384:R223H;ENSP00000262233:R235H;ENSP00000334314:R254H;ENSP00000452089:R204H	ENSP00000262233:R235H	R	+	2	0	EML1	99433261	1.000000	0.71417	0.155000	0.22561	0.989000	0.77384	9.675000	0.98638	2.480000	0.83734	0.650000	0.86243	CGT		0.468	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T	rs541843030		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr15:78403609C>T	ENST00000258930.3	-	3	424	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	32					calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18045	0.0		0.0	False		,,,				2504	0.001					uc010ums.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(94-96)tcG>tcA		Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.							82.0	79.0	80.0					15																	78403609		2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78403609C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.96G>A	15.37:g.78403609C>T						CIB2_uc002bdb.1_Silent_p.S32S|CIB2_uc002bdc.1_5'UTR	p.S32S	NM_006383	NP_006374	O75838	CIB2_HUMAN			2	417	-			32					B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.96G>A	CCDS10296.1																																																																																				0.612	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383	
ACSM2B	348158	broad.mit.edu	37	16	20570756	20570756	+	Missense_Mutation	SNP	A	A	G	rs74479331		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr16:20570756A>G	ENST00000329697.6	-	3	359	c.191T>C	c.(190-192)cTc>cCc	p.L64P	ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L64P|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L64P|ACSM2B_ENST00000414188.2_Missense_Mutation_p.L64P	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	64					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.L64P(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCTTGGGAGTCGCTTGCC	0.512																																						uc002dhj.4																			1	Substitution - Missense(1)	p.L64P(2)	endometrium(1)	breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(190-192)cTc>cCc		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							35.0	36.0	35.0					16																	20570756		2201	4300	6501	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570756A>G	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.191T>C	16.37:g.20570756A>G	ENSP00000327453:p.Leu64Pro					ACSM2B_uc002dhk.4_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	p.L64P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			3	401	-			64					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.191T>C	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.854882	0.00558	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.32023	1.47;1.47	3.51	3.51	0.40186	.	0.999655	0.08090	N	0.999421	T	0.10508	0.0257	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16689	-1.0394	10	0.02654	T	1	0.1773	9.9439	0.41598	0.1046:0.0:0.8954:0.0	.	64;64	A8K051;Q68CK6	.;ACS2B_HUMAN	P	64	ENSP00000327453:L64P;ENSP00000390378:L64P	ENSP00000327453:L64P	L	-	2	0	ACSM2B	20478257	0.000000	0.05858	0.138000	0.22173	0.270000	0.26580	0.703000	0.25646	0.694000	0.31654	-0.166000	0.13349	CTC		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Frame_Shift_Del	DEL	G	G	-	rs28934574		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:7577094delG	ENST00000269305.4	-	8	1033	c.844delC	c.(844-846)cggfs	p.R283fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000574684.1_5'Flank	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	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)cggfs	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							83.0	71.0	75.0					17																	7577094		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094delG	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.844delC	17.37:g.7577094delG	ENSP00000269305:p.Arg283fs	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_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R282fs	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.844delC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRTAP4-8	728224	broad.mit.edu	37	17	39254021	39254021	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:39254021C>T	ENST00000333822.4	-	1	372	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	106	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						cagctggacacacagcagctg	0.672																																						uc010wfo.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(316-318)Gtg>Atg		Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.							5.0	7.0	6.0					17																	39254021		655	1529	2184	SO:0001583	missense	728224					keratin filament		g.chr17:39254021C>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.316G>A	17.37:g.39254021C>T	ENSP00000328444:p.Val106Met						p.V106M	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			0	355	-			106			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.316G>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738646	0.49045	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.00617	6.19	3.21	1.06	0.20224	.	1.219990	0.06472	U	0.731335	T	0.01489	0.0048	M	0.77616	2.38	0.09310	N	1	P	0.44309	0.832	B	0.43413	0.419	T	0.47971	-0.9075	10	0.49607	T	0.09	.	7.6941	0.28585	0.0:0.786:0.0:0.214	.	106	Q9BYQ9	KRA48_HUMAN	M	106;91	ENSP00000328444:V106M	ENSP00000414561:V91M	V	-	1	0	KRTAP4-8	36507547	0.000000	0.05858	0.001000	0.08648	0.988000	0.76386	-1.826000	0.01705	0.172000	0.19760	0.449000	0.29647	GTG		0.672	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
SGCA	6442	broad.mit.edu	37	17	48245006	48245006	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:48245006G>A	ENST00000262018.3	+	3	257	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	SGCA_ENST00000543315.1_Missense_Mutation_p.R74Q|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.R74Q|RP11-893F2.14_ENST00000572855.1_RNA	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	74			R -> W (in LGMD2D).		muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GACCTGCCCCGGTGGCTCCGC	0.657																																						uc002iqi.3																			0		p.P73P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						c.(220-222)cGg>cAg		Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.							49.0	49.0	49.0					17																	48245006		2203	4300	6503	SO:0001583	missense	6442				muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr17:48245006G>A	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.221G>A	17.37:g.48245006G>A	ENSP00000262018:p.Arg74Gln					SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.R74Q|SGCA_uc010wmi.2_Non-coding_Transcript	p.R74Q	NM_000023	NP_000014	Q16586	SGCA_HUMAN			2	257	+			74		R -> W (in LGMD2D).			A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	37	c.221G>A	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421203	0.42918	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315	D;D;D	0.98437	-4.93;-4.93;-4.93	4.53	3.55	0.40652	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.289040	0.30800	N	0.008849	D	0.97210	0.9088	L	0.33485	1.01	0.80722	D	1	D;P	0.89917	1.0;0.657	D;B	0.83275	0.996;0.152	D	0.94389	0.7612	10	0.13470	T	0.59	-23.9088	9.4495	0.38717	0.1024:0.0:0.8976:0.0	.	74;74	Q16586-2;Q16586	.;SGCA_HUMAN	Q	74	ENSP00000345522:R74Q;ENSP00000262018:R74Q;ENSP00000444539:R74Q	ENSP00000262018:R74Q	R	+	2	0	SGCA	45600005	0.969000	0.33509	0.986000	0.45419	0.976000	0.68499	2.670000	0.46833	2.219000	0.72066	0.462000	0.41574	CGG		0.657	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023	
ARHGAP28	79822	broad.mit.edu	37	18	6859897	6859897	+	Splice_Site	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr18:6859897G>T	ENST00000383472.4	+	5	830		c.e5+1		ARHGAP28_ENST00000314319.3_Splice_Site|ARHGAP28_ENST00000400091.2_Splice_Site|ARHGAP28_ENST00000418986.1_Splice_Site|ARHGAP28_ENST00000419673.2_Splice_Site|ARHGAP28_ENST00000532996.1_Splice_Site|ARHGAP28_ENST00000262227.3_Splice_Site|ARHGAP28_ENST00000531294.1_Splice_Site			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGACTCTGTGGTAAGTCATCC	0.428																																						uc002knc.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.e5+1		Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.							193.0	179.0	184.0					18																	6859897		2203	4300	6503	SO:0001630	splice_region_variant	79822				signal transduction	intracellular		g.chr18:6859897G>T	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.726+1G>T	18.37:g.6859897G>T						ARHGAP28_uc002kne.3_Splice_Site_p.V83_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.V65_splice|ARHGAP28_uc002knf.3_Splice_Site_p.V74_splice	p.V190_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN			5	3781	+		Colorectal(10;0.168)	65					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Splice_Site	SNP	ENST00000383472.4	37	c.570_splice		.	.	.	.	.	.	.	.	.	.	G	14.66	2.600954	0.46423	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8775	0.57998	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP28	6849897	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	3.694000	0.54742	2.756000	0.94617	0.563000	0.77884	.		0.428	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108	Intron
SIGLEC11	114132	broad.mit.edu	37	19	50462137	50462137	+	Missense_Mutation	SNP	C	C	A	rs142292396	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:50462137C>A	ENST00000447370.2	-	7	1216	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G376C|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	376	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGGATGTGCCGTTCCCGAGG	0.662																																						uc010ybh.2																			0		p.R376S(1)|p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1126-1128)Ggc>Tgc		Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.							36.0	40.0	38.0					19																	50462137		2203	4300	6503	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462137C>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1126G>T	19.37:g.50462137C>A	ENSP00000412361:p.Gly376Cys					SIGLEC11_uc010ybi.2_Missense_Mutation_p.G376C	p.G376C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	6	1217	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	376			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1126G>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101482	0.37048	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.57907	0.37	3.07	2.01	0.26516	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.896444	0.09600	N	0.780334	T	0.67439	0.2893	M	0.86502	2.82	0.09310	N	1	D;D	0.56968	0.97;0.978	P;P	0.56163	0.793;0.765	T	0.53549	-0.8423	10	0.51188	T	0.08	.	6.4245	0.21762	0.0:0.8482:0.0:0.1518	.	376;376	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	C	376	ENSP00000412361:G376C	ENSP00000412361:G376C	G	-	1	0	SIGLEC11	55153949	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.799000	0.27028	0.563000	0.29222	0.556000	0.70494	GGC		0.662	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884	
KLK15	55554	broad.mit.edu	37	19	51329907	51329907	+	Silent	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:51329907G>A	ENST00000598239.1	-	4	618	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KLK15_ENST00000326856.4_Silent_p.G195G|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000596931.1_Intron|KLK1_ENST00000448701.2_5'Flank|KLK15_ENST00000301421.2_Intron|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	196	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTCCGCGCCTGCACACA	0.582																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(586-588)ggC>ggT		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.							77.0	80.0	79.0					19																	51329907		2203	4300	6503	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329907G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.588C>T	19.37:g.51329907G>A						KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Silent_p.G195G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	p.G196G	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	619	-		all_neural(266;0.057)	196			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.588C>T	CCDS12805.1																																																																																				0.582	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
BRSK1	84446	broad.mit.edu	37	19	55814187	55814187	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:55814187G>C	ENST00000309383.1	+	10	1257	c.980G>C	c.(979-981)gGc>gCc	p.G327A	BRSK1_ENST00000590333.1_Missense_Mutation_p.G343A|BRSK1_ENST00000585418.1_Missense_Mutation_p.G327A|BRSK1_ENST00000326848.7_Missense_Mutation_p.G22A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	327	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)	p.G327D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATCACTGGGCTGCTTCAGG	0.682																																						uc002qkf.3																			1	Substitution - Missense(1)	p.G327D(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1027-1029)gGc>gCc		Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.							62.0	52.0	55.0					19																	55814187		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55814187G>C	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.980G>C	19.37:g.55814187G>C	ENSP00000310649:p.Gly327Ala					BRSK1_uc021vbs.1_Missense_Mutation_p.G327A|BRSK1_uc002qkg.3_Missense_Mutation_p.G327A|BRSK1_uc002qkh.3_Missense_Mutation_p.G22A|Mir_324_uc021vbt.1_5'Flank	p.G343A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	11	1155	+		Renal(1328;0.245)	327			UBA.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.1028G>C	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	32	5.165279	0.94768	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.73681	-0.77;0.53	4.69	4.69	0.59074	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.86678	0.5990	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88843	0.3314	10	0.87932	D	0	.	16.7703	0.85535	0.0:0.0:1.0:0.0	.	327;343	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	A	327;22;22	ENSP00000310649:G327A;ENSP00000320853:G22A	ENSP00000310649:G327A	G	+	2	0	BRSK1	60505999	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.347000	0.97059	2.345000	0.79718	0.655000	0.94253	GGC		0.682	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430	
TRABD2A	129293	broad.mit.edu	37	2	85051138	85051138	+	Missense_Mutation	SNP	G	G	A	rs202220791		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:85051138G>A	ENST00000409520.2	-	6	1315	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000335459.5_Missense_Mutation_p.R376W	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	425					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CGCTGTGACCGCCTCCGCTTC	0.652																																						uc010ysl.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						c.(1273-1275)Cgg>Tgg		Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.							36.0	41.0	39.0					2																	85051138		2199	4300	6499	SO:0001583	missense	129293					integral to membrane		g.chr2:85051138G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1273C>T	2.37:g.85051138G>A	ENSP00000387075:p.Arg425Trp					C2orf89_uc002sou.4_Missense_Mutation_p.R376W	p.R425W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			5	1362	-			425					B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.1273C>T		.	.	.	.	.	.	.	.	.	.	g	11.11	1.543208	0.27563	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	T;T	0.31769	1.48;1.59	3.8	-7.6	0.01303	.	1.058870	0.07577	N	0.919681	T	0.15392	0.0371	.	.	.	0.09310	N	1	B;B	0.15930	0.0;0.015	B;B	0.10450	0.0;0.005	T	0.31364	-0.9946	9	0.87932	D	0	.	0.3013	0.00273	0.3434:0.211:0.135:0.3106	.	425;376	Q86V40;Q86V40-2	CB089_HUMAN;.	W	376;425	ENSP00000335004:R376W;ENSP00000387075:R425W	ENSP00000335004:R376W	R	-	1	2	C2orf89	84904649	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.505000	0.00448	-2.124000	0.00822	0.444000	0.29173	CGG		0.652	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824	
SCN9A	6335	broad.mit.edu	37	2	167055444	167055444	+	Missense_Mutation	SNP	C	C	T	rs180949263		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:167055444C>T	ENST00000409435.1	-	26	5704	c.5705G>A	c.(5704-5706)cGt>cAt	p.R1902H	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1903H|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1891H|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1903H			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1902	IQ.				behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAGCGGTAACGTCTATAAGC	0.363													C|||	1	0.000199681	0.0	0.0	5008	,	,		21772	0.001		0.0	False		,,,				2504	0.0					uc010fpl.3																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5671-5673)cGt>cAt		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						165.0	171.0	169.0					2																	167055444		2161	4280	6441	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055444C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5705G>A	2.37:g.167055444C>T	ENSP00000386330:p.Arg1902His					BC051759_uc002udp.3_Intron	p.R1891H	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	6013	-			1902			IQ.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5672G>A	CCDS46441.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.22	1.290119	0.23478	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96427	-3.99;-4.01;-4.01;-4.01	6.08	3.34	0.38264	.	0.183937	0.39544	N	0.001334	D	0.92499	0.7618	L	0.38175	1.15	0.40061	D	0.975899	B	0.16396	0.017	B	0.14578	0.011	D	0.89146	0.3520	10	0.56958	D	0.05	.	10.3652	0.44019	0.0:0.7962:0.0:0.2038	.	1891	E7EUN6	.	H	1891;1903;1903;1902	ENSP00000386306:R1891H;ENSP00000364536:R1903H;ENSP00000304748:R1903H;ENSP00000386330:R1902H	ENSP00000304748:R1903H	R	-	2	0	SCN9A	166763690	0.000000	0.05858	0.998000	0.56505	0.610000	0.37248	-0.006000	0.12833	0.928000	0.37168	-0.186000	0.12905	CGT		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
PDE1A	5136	broad.mit.edu	37	2	183066517	183066517	+	Splice_Site	SNP	C	C	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:183066517C>G	ENST00000410103.1	-	10	1034		c.e10-1		PDE1A_ENST00000409365.1_Splice_Site|PDE1A_ENST00000456212.1_Splice_Site|PDE1A_ENST00000331935.6_Splice_Site|PDE1A_ENST00000536095.1_Splice_Site|PDE1A_ENST00000435564.1_Splice_Site|PDE1A_ENST00000358139.2_Splice_Site|PDE1A_ENST00000346717.4_Splice_Site|PDE1A_ENST00000351439.5_Splice_Site	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CCGAAGATCCCTGCAGAGTCA	0.363																																						uc002uos.3																			0				endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35						c.e10-1		Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.							67.0	66.0	66.0					2																	183066517		2203	4300	6503	SO:0001630	splice_region_variant	5136				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr2:183066517C>G		CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.951-1G>C	2.37:g.183066517C>G						PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice	p.R317_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)		10	1035	-			317			Catalytic (By similarity).		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Splice_Site	SNP	ENST00000410103.1	37	c.951_splice	CCDS33344.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337114	0.41398	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.76	0.88462	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1A	182774762	1.000000	0.71417	1.000000	0.80357	0.292000	0.27327	7.550000	0.82173	2.487000	0.83934	0.655000	0.94253	.		0.363	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334356.1		Intron
PASK	23178	broad.mit.edu	37	2	242054741	242054741	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:242054741C>T	ENST00000405260.1	-	13	3858	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	PASK_ENST00000539818.1_Missense_Mutation_p.A838T|PASK_ENST00000358649.4_Missense_Mutation_p.A1054T|PASK_ENST00000403638.3_Missense_Mutation_p.A1054T|PASK_ENST00000234040.4_Missense_Mutation_p.A1054T|PASK_ENST00000544142.1_Missense_Mutation_p.A868T|PASK_ENST00000475666.1_5'Flank	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1054	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATAGAATTGCGATCTCTAAA	0.433																																						uc002wao.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(3160-3162)Gca>Aca		Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.							173.0	157.0	163.0					2																	242054741		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242054741C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3160G>A	2.37:g.242054741C>T	ENSP00000384016:p.Ala1054Thr					PASK_uc010zol.2_Missense_Mutation_p.A868T|PASK_uc010zom.2_Missense_Mutation_p.A1019T|PASK_uc010fzl.2_Missense_Mutation_p.A1054T|PASK_uc010zon.2_Missense_Mutation_p.A835T|PASK_uc021vzf.1_Missense_Mutation_p.A1054T|PASK_uc002wap.3_Missense_Mutation_p.A597T|PASK_uc002waq.3_Missense_Mutation_p.A1054T	p.A1054T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	12	3293	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1054			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.3160G>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772327	0.49680	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.39	1.17	0.20885	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.596397	0.14718	N	0.302501	T	0.52917	0.1764	L	0.31578	0.945	0.35897	D	0.830111	P;P;P;D;P	0.65815	0.952;0.941;0.941;0.995;0.952	P;B;B;P;P	0.46850	0.477;0.346;0.346;0.529;0.477	T	0.60786	-0.7194	10	0.59425	D	0.04	.	11.0702	0.47999	0.4718:0.4136:0.1147:0.0	.	1019;868;1054;1054;1054	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	T	1054;868;1054;1054;838;1054	ENSP00000234040:A1054T;ENSP00000441374:A868T;ENSP00000384016:A1054T;ENSP00000351475:A1054T;ENSP00000443083:A838T;ENSP00000384438:A1054T	ENSP00000234040:A1054T	A	-	1	0	PASK	241703414	0.970000	0.33590	0.090000	0.20809	0.591000	0.36615	2.282000	0.43461	0.208000	0.20626	0.563000	0.77884	GCA		0.433	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148	
TM9SF4	9777	broad.mit.edu	37	20	30745712	30745712	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:30745712G>A	ENST00000398022.2	+	14	1680	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	TM9SF4_ENST00000217315.5_Missense_Mutation_p.R465H	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	482						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AACCCTGTGCGCACCAACCAG	0.587																																						uc002wxj.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1444-1446)cGc>cAc		Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.							123.0	114.0	117.0					20																	30745712		2203	4300	6503	SO:0001583	missense	9777					integral to membrane		g.chr20:30745712G>A	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1445G>A	20.37:g.30745712G>A	ENSP00000381104:p.Arg482His					TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H	p.R482H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		13	1680	+			482					B0QYT7|Q9NUA3	Missense_Mutation	SNP	ENST00000398022.2	37	c.1445G>A	CCDS13196.2	.	.	.	.	.	.	.	.	.	.	G	36	5.681421	0.96774	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.53206	0.63;0.63	4.96	4.96	0.65561	.	0.061906	0.64402	D	0.000003	T	0.74596	0.3737	M	0.91972	3.26	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.64687	0.928;0.909	T	0.81059	-0.1104	10	0.66056	D	0.02	-15.6077	18.4218	0.90594	0.0:0.0:1.0:0.0	.	389;482	B4DH88;Q92544	.;TM9S4_HUMAN	H	482;465	ENSP00000381104:R482H;ENSP00000217315:R465H	ENSP00000217315:R465H	R	+	2	0	TM9SF4	30209373	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.463000	0.97652	2.572000	0.86782	0.655000	0.94253	CGC		0.587	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742	
MC3R	4159	broad.mit.edu	37	20	54824428	54824428	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:54824428G>A	ENST00000243911.2	+	1	641	c.529G>A	c.(529-531)Gtg>Atg	p.V177M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	177					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTCTGTGGCGTGGTGTTCAT	0.562																																						uc002xxb.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(529-531)Gtg>Atg		Homo sapiens melanocortin 3 receptor (MC3R), mRNA.							213.0	193.0	199.0					20																	54824428		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824428G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.529G>A	20.37:g.54824428G>A	ENSP00000243911:p.Val177Met						p.V177M	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		0	641	+			214					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.529G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.69	3.452219	0.63290	.	.	ENSG00000124089	ENST00000243911	T	0.73152	-0.72	5.37	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.089570	0.40818	N	0.001019	T	0.68714	0.3031	L	0.37561	1.115	0.37835	D	0.928851	D	0.64830	0.994	P	0.60286	0.872	T	0.71810	-0.4480	10	0.51188	T	0.08	.	3.6969	0.08368	0.3508:0.0:0.6492:0.0	.	214	P41968	MC3R_HUMAN	M	177	ENSP00000243911:V177M	ENSP00000243911:V177M	V	+	1	0	MC3R	54257835	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.265000	0.65519	2.500000	0.84329	0.650000	0.86243	GTG		0.562	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2		
HUNK	30811	broad.mit.edu	37	21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr21:33370854G>A	ENST00000270112.2	+	11	1862	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	501					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTGGCTGCCGCAATATTTTC	0.527																																						uc002yph.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						c.(1501-1503)cGc>cAc		Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.							115.0	108.0	110.0					21																	33370854		2203	4300	6503	SO:0001583	missense	30811				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity	g.chr21:33370854G>A	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.1502G>A	21.37:g.33370854G>A	ENSP00000270112:p.Arg501His						p.R501H	NM_014586	NP_055401	P57058	HUNK_HUMAN			10	1862	+			501						Missense_Mutation	SNP	ENST00000270112.2	37	c.1502G>A	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730461	0.69074	.	.	ENSG00000142149	ENST00000270112	T	0.69561	-0.41	4.45	3.48	0.39840	.	0.234561	0.36338	N	0.002650	T	0.51805	0.1696	N	0.19112	0.55	0.32200	N	0.577961	D	0.61697	0.99	P	0.45099	0.469	T	0.64681	-0.6350	10	0.72032	D	0.01	-24.8398	9.911	0.41406	0.0:0.0:0.582:0.418	.	501	P57058	HUNK_HUMAN	H	501	ENSP00000270112:R501H	ENSP00000270112:R501H	R	+	2	0	HUNK	32292725	0.961000	0.32948	1.000000	0.80357	0.990000	0.78478	2.365000	0.44196	2.304000	0.77564	0.491000	0.48974	CGC		0.527	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
OR5H6	79295	broad.mit.edu	37	3	97983628	97983628	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr3:97983628G>C	ENST00000383696.2	+	1	541	c.500G>C	c.(499-501)gGt>gCt	p.G167A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCATTTATAGGTGGCCTTCTT	0.348																																						uc003dsi.1																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(499-501)gGt>gCt		Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.							99.0	95.0	96.0					3																	97983628		2203	4298	6501	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983628G>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.500G>C	3.37:g.97983628G>C	ENSP00000373196:p.Gly167Ala						p.G167A	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			0	500	+			167					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.500G>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	0.004	-2.256864	0.00265	.	.	ENSG00000230301	ENST00000383696	T	0.36340	1.26	2.19	-0.282	0.12878	GPCR, rhodopsin-like superfamily (1);	0.301640	0.24014	N	0.042356	T	0.20251	0.0487	N	0.13198	0.31	0.09310	N	1	B	0.22541	0.071	B	0.33690	0.168	T	0.33727	-0.9857	10	0.15952	T	0.53	.	9.2106	0.37316	0.0:0.4163:0.5837:0.0	.	167	Q8NGV6	OR5H6_HUMAN	A	167	ENSP00000373196:G167A	ENSP00000373196:G167A	G	+	2	0	OR5H6	99466318	0.048000	0.20356	0.009000	0.14445	0.031000	0.12232	0.606000	0.24194	0.217000	0.20800	0.194000	0.17425	GGT		0.348	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
REST	5978	broad.mit.edu	37	4	57797807	57797807	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:57797807C>T	ENST00000309042.7	+	4	3097	c.2783C>T	c.(2782-2784)aCg>aTg	p.T928M		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	928					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTTGAATACGCCAGAGGGT	0.413																																						uc003hch.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2782-2784)aCg>aTg		Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.							62.0	61.0	61.0					4																	57797807		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797807C>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2783C>T	4.37:g.57797807C>T	ENSP00000311816:p.Thr928Met					REST_uc003hci.3_Missense_Mutation_p.T928M|REST_uc010ihf.3_Missense_Mutation_p.T602M	p.T928M	NM_005612	NP_005603	Q13127	REST_HUMAN			3	3130	+	Glioma(25;0.08)|all_neural(26;0.181)		928					A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2783C>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333088	0.24167	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.06933	3.24	5.91	-4.56	0.03431	.	1.276940	0.05315	N	0.525454	T	0.02012	0.0063	N	0.00538	-1.39	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.44483	-0.9325	10	0.28530	T	0.3	1.0816	4.6207	0.12449	0.1051:0.4592:0.1458:0.29	.	905;928	F8WAN5;Q13127	.;REST_HUMAN	M	928;905	ENSP00000311816:T928M	ENSP00000311816:T928M	T	+	2	0	REST	57492564	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.621000	0.05559	-0.345000	0.08325	-0.982000	0.02568	ACG		0.413	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
NDST4	64579	broad.mit.edu	37	4	115997685	115997685	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:115997685T>A	ENST00000264363.2	-	2	1186	c.508A>T	c.(508-510)Aac>Tac	p.N170Y		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	170	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTAAGCTGTTCTCATTGGCT	0.368																																						uc003ibu.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(508-510)Aac>Tac		Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							71.0	72.0	72.0					4																	115997685		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997685T>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.508A>T	4.37:g.115997685T>A	ENSP00000264363:p.Asn170Tyr					NDST4_uc010imw.3_Intron	p.N170Y	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	1	1187	-		Ovarian(17;0.156)	170			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.508A>T	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195978	0.58126	.	.	ENSG00000138653	ENST00000264363	T	0.40476	1.03	5.25	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.81239	2.535	0.58432	D	0.999993	B	0.28783	0.222	B	0.35899	0.213	T	0.50074	-0.8870	10	0.51188	T	0.08	.	12.2364	0.54518	0.0:0.0:0.1426:0.8574	.	170	Q9H3R1	NDST4_HUMAN	Y	170	ENSP00000264363:N170Y	ENSP00000264363:N170Y	N	-	1	0	NDST4	116217134	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.238000	0.72350	0.804000	0.34136	0.482000	0.46254	AAC		0.368	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
KLKB1	3818	broad.mit.edu	37	4	187173239	187173239	+	Missense_Mutation	SNP	C	C	A	rs61733605		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:187173239C>A	ENST00000264690.6	+	11	1400	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	KLKB1_ENST00000513864.1_Missense_Mutation_p.Q405K	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	405	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTGGCCCTGGCAGGTGAGCCT	0.542																																						uc003iyy.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1213-1215)Cag>Aag		Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.							92.0	87.0	89.0					4																	187173239		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187173239C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1213C>A	4.37:g.187173239C>A	ENSP00000264690:p.Gln405Lys					KLKB1_uc011clc.2_Missense_Mutation_p.Q203K|KLKB1_uc011cld.2_Missense_Mutation_p.Q367K	p.Q405K	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	10	1284	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	405			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1213C>A	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	c	33	5.285383	0.95517	.	.	ENSG00000164344	ENST00000264690;ENST00000513864;ENST00000418715	D;D	0.90732	-2.72;-2.72	5.58	5.58	0.84498	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.082046	0.52532	D	0.000070	D	0.97071	0.9043	H	0.95294	3.65	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.97654	1.0156	10	0.87932	D	0	.	19.9477	0.97189	0.0:1.0:0.0:0.0	.	367;405;405	E7EQA8;A8K9A9;P03952	.;.;KLKB1_HUMAN	K	405;405;367	ENSP00000264690:Q405K;ENSP00000424469:Q405K	ENSP00000264690:Q405K	Q	+	1	0	KLKB1	187410233	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.028000	0.70889	2.793000	0.96121	0.645000	0.84053	CAG		0.542	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	
RAB3C	115827	broad.mit.edu	37	5	57913622	57913622	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:57913622C>T	ENST00000282878.4	+	2	346	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	59					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATCTGCATTCGTCAGCACAG	0.383																																						uc003jrp.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21						c.(175-177)ttC>ttT		Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.							71.0	65.0	67.0					5																	57913622		2203	4299	6502	SO:0001819	synonymous_variant	115827				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr5:57913622C>T	AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.177C>T	5.37:g.57913622C>T							p.F59F	NM_138453	NP_612462	Q96E17	RAB3C_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)	1	274	+		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)	59						Silent	SNP	ENST00000282878.4	37	c.177C>T	CCDS3976.1																																																																																				0.383	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214156.2	NM_138453	
MAP1B	4131	broad.mit.edu	37	5	71493036	71493036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:71493036delA	ENST00000296755.7	+	5	4152	c.3854delA	c.(3853-3855)gagfs	p.E1285fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1285					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACGCCCAATGAGATTAAAGTC	0.527																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3853-3855)gagfs		Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.							55.0	54.0	54.0					5																	71493036		2203	4300	6503	SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493036delA	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3854delA	5.37:g.71493036delA	ENSP00000296755:p.Glu1285fs					MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs	p.E1285fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	4	4095	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1285					A2BDK5	Frame_Shift_Del	DEL	ENST00000296755.7	37	c.3854delA	CCDS4012.1																																																																																				0.527	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
SV2C	22987	broad.mit.edu	37	5	75428035	75428035	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:75428035C>A	ENST00000502798.2	+	2	902	c.460C>A	c.(460-462)Ctt>Att	p.L154I	SV2C_ENST00000322285.7_Missense_Mutation_p.L154I	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	154					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAGTGGGCCCTTTTCTTCGT	0.527																																						uc003kei.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(460-462)Ctt>Att		Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.							195.0	194.0	194.0					5																	75428035		2035	4179	6214	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75428035C>A	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.460C>A	5.37:g.75428035C>A	ENSP00000423541:p.Leu154Ile						p.L154I	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	1	594	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	154					Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.460C>A	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541723	0.85917	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.58210	0.35;0.35	5.9	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.134780	0.49916	D	0.000135	T	0.68513	0.3009	M	0.70595	2.14	0.80722	D	1	D	0.56521	0.976	D	0.63192	0.912	T	0.69472	-0.5136	10	0.54805	T	0.06	-16.4305	14.4897	0.67642	0.0:0.9301:0.0:0.0699	.	154	Q496J9	SV2C_HUMAN	I	154	ENSP00000423541:L154I;ENSP00000316983:L154I	ENSP00000316983:L154I	L	+	1	0	SV2C	75463791	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.948000	0.63590	2.806000	0.96561	0.655000	0.94253	CTT		0.527	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
GABRA1	2554	broad.mit.edu	37	5	161324208	161324208	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:161324208C>T	ENST00000428797.2	+	11	1506	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	GABRA1_ENST00000023897.6_Missense_Mutation_p.P384L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P384L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P384L|GABRA1_ENST00000420560.1_Missense_Mutation_p.P384L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P384L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	384					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|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)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P384Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	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;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGGGGCGACCCGGGCTTAGCC	0.458																																						uc010jiw.3																			1	Substitution - Missense(1)	p.P384Q(2)	lung(1)	NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1150-1152)cCg>cTg		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						106.0	116.0	113.0					5																	161324208		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324208C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1151C>T	5.37:g.161324208C>T	ENSP00000393097:p.Pro384Leu					GABRA1_uc010jix.3_Missense_Mutation_p.P384L|GABRA1_uc010jiy.3_Missense_Mutation_p.P384L|GABRA1_uc003lyx.4_Missense_Mutation_p.P384L|GABRA1_uc010jiz.3_Missense_Mutation_p.P384L|GABRA1_uc010jja.3_Missense_Mutation_p.P384L|GABRA1_uc010jjb.3_Missense_Mutation_p.P384L	p.P384L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	10	1619	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	384					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1151C>T	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592291	0.66219	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.057504	0.64402	D	0.000001	T	0.79907	0.4527	L	0.41492	1.28	0.80722	D	1	P	0.50369	0.934	P	0.44561	0.453	T	0.76849	-0.2807	10	0.21014	T	0.42	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	384	P14867	GBRA1_HUMAN	L	384	ENSP00000023897:P384L;ENSP00000393097:P384L;ENSP00000377517:P384L;ENSP00000415441:P384L;ENSP00000408041:P384L;ENSP00000414232:P384L	ENSP00000023897:P384L	P	+	2	0	GABRA1	161256786	1.000000	0.71417	0.981000	0.43875	0.924000	0.55760	7.395000	0.79876	2.642000	0.89623	0.563000	0.77884	CCG		0.458	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5	
PKHD1	5314	broad.mit.edu	37	6	51910930	51910930	+	Missense_Mutation	SNP	C	C	T	rs370436973		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:51910930C>T	ENST00000371117.3	-	24	2739	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	PKHD1_ENST00000340994.4_Missense_Mutation_p.D822N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	822					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)			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)					GTGAAGTCATCGGCATTATTC	0.443																																						uc003pah.1																			0				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						c.(2464-2466)Gat>Aat		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	214.0	186.0	195.0		2464,2464	3.9	0.0	6		195	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	822/4075,822/3397	51910930	1,13005	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.chr6:51910930C>T	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.2464G>A	6.37:g.51910930C>T	ENSP00000360158:p.Asp822Asn					PKHD1_uc003pai.3_Missense_Mutation_p.D822N	p.D822N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			23	2740	-	Lung NSC(77;0.0605)		822					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2464G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791142	0.31685	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87412	-2.05;-2.25	5.74	3.94	0.45596	.	0.293169	0.33092	N	0.005283	D	0.88104	0.6347	M	0.76838	2.35	0.09310	N	1	D;D	0.89917	1.0;1.0	D;P	0.66847	0.947;0.9	T	0.81169	-0.1055	10	0.39692	T	0.17	.	9.7785	0.40634	0.0:0.7825:0.1405:0.0771	.	822;822	P08F94-2;P08F94	.;PKHD1_HUMAN	N	822	ENSP00000360158:D822N;ENSP00000341097:D822N	ENSP00000341097:D822N	D	-	1	0	PKHD1	52018889	0.651000	0.27340	0.008000	0.14137	0.002000	0.02628	1.885000	0.39678	0.762000	0.33152	-0.224000	0.12420	GAT		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
EZR	7430	broad.mit.edu	37	6	159192358	159192358	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:159192358G>A	ENST00000367075.3	-	9	1045	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	EZR_ENST00000392177.4_Missense_Mutation_p.R261C|EZR_ENST00000337147.7_Missense_Mutation_p.R293C	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	293	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGCGGCGCATATACAAC	0.572			T	ROS1	NSCLC																																	uc003qrt.4				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(877-879)Cgc>Tgc		Homo sapiens ezrin (EZR), transcript variant 1, mRNA.							77.0	71.0	73.0					6																	159192358		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159192358G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.877C>T	6.37:g.159192358G>A	ENSP00000356042:p.Arg293Cys					EZR_uc011efr.2_5'Flank|EZR_uc011efs.2_Missense_Mutation_p.R261C|EZR_uc003qru.4_Missense_Mutation_p.R293C	p.R293C	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	7	1092	-		Breast(66;0.000776)|Ovarian(120;0.0303)	293			FERM.|Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.877C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868449	0.91587	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.29917	1.55;1.55;1.55	5.13	5.13	0.70059	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70974	-0.4726	10	0.87932	D	0	.	18.9615	0.92679	0.0:0.0:1.0:0.0	.	261;293	E7EQR4;P15311	.;EZRI_HUMAN	C	293;293;261	ENSP00000338934:R293C;ENSP00000356042:R293C;ENSP00000376016:R261C	ENSP00000338934:R293C	R	-	1	0	EZR	159112346	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.655000	0.74392	2.547000	0.85894	0.655000	0.94253	CGC		0.572	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
FAM126A	84668	broad.mit.edu	37	7	22985627	22985627	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:22985627G>A	ENST00000432176.2	-	11	1379	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	383					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTCCTGACCGTCTGTGGTTC	0.438																																						uc003svm.4																			0		p.R383Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						c.(1147-1149)Cgg>Tgg		Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.							131.0	140.0	137.0					7																	22985627		2203	4300	6503	SO:0001583	missense	84668					cytoplasm|membrane	signal transducer activity	g.chr7:22985627G>A	BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1147C>T	7.37:g.22985627G>A	ENSP00000403396:p.Arg383Trp					FAM126A_uc003svn.4_3'UTR	p.R383W	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN			10	1402	-			383					A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Missense_Mutation	SNP	ENST00000432176.2	37	c.1147C>T	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.346850	0.61073	.	.	ENSG00000122591	ENST00000432176	T	0.79033	-1.23	6.17	4.21	0.49690	.	0.000000	0.85682	D	0.000000	D	0.83115	0.5184	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	P	0.60541	0.876	D	0.85101	0.0957	10	0.87932	D	0	-9.9236	12.7438	0.57268	0.0:0.0:0.4515:0.5485	.	383	Q9BYI3	HYCCI_HUMAN	W	383	ENSP00000403396:R383W	ENSP00000403396:R383W	R	-	1	2	FAM126A	22952152	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.553000	0.45837	1.607000	0.50170	-0.181000	0.13052	CGG		0.438	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
AMPH	273	broad.mit.edu	37	7	38516566	38516566	+	Missense_Mutation	SNP	G	G	A	rs370790138		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:38516566G>A	ENST00000356264.2	-	6	615	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_ENST00000325590.5_Missense_Mutation_p.R134C|AMPH_ENST00000428293.2_Missense_Mutation_p.R134C	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	134	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522																																						uc003tgu.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(400-402)Cgc>Tgc		Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	103.0	89.0	94.0		400,400	5.5	1.0	7		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	134/696,134/654	38516566	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38516566G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.400C>T	7.37:g.38516566G>A	ENSP00000348602:p.Arg134Cys					AMPH_uc003tgv.3_Missense_Mutation_p.R134C	p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN			5	616	-			134			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.400C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720993	0.89205	0.0	1.16E-4	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	T;T;T	0.64438	-0.1;-0.1;-0.1	5.52	5.52	0.82312	BAR (3);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.72338	0.915;0.977	T	0.79500	-0.1778	10	0.52906	T	0.07	-11.6853	18.5675	0.91121	0.0:0.0:1.0:0.0	.	134;134	P49418-2;P49418	.;AMPH_HUMAN	C	134	ENSP00000317441:R134C;ENSP00000348602:R134C;ENSP00000390734:R134C	ENSP00000317441:R134C	R	-	1	0	AMPH	38483091	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.515000	0.90548	2.757000	0.94681	0.585000	0.79938	CGC		0.522	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	
ABCA13	154664	broad.mit.edu	37	7	48287865	48287865	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:48287865G>T	ENST00000435803.1	+	14	1713	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	563					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATTACTTGGCACAAAAATA	0.388																																						uc003toq.2																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1687-1689)tgG>tgT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.							69.0	68.0	68.0					7																	48287865		1856	4090	5946	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48287865G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1689G>T	7.37:g.48287865G>T	ENSP00000411096:p.Trp563Cys					ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	p.W563C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			13	1713	+			563					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.1689G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741407	0.30865	.	.	ENSG00000179869	ENST00000435803	D	0.87966	-2.32	4.29	-3.36	0.04913	.	0.430664	0.19926	N	0.102969	T	0.68778	0.3038	N	0.14661	0.345	0.09310	N	1	P	0.43352	0.804	B	0.37780	0.258	T	0.65813	-0.6077	10	0.72032	D	0.01	.	4.7055	0.12848	0.465:0.313:0.222:0.0	.	563	Q86UQ4	ABCAD_HUMAN	C	563	ENSP00000411096:W563C	ENSP00000411096:W563C	W	+	3	0	ABCA13	48258411	0.648000	0.27313	0.000000	0.03702	0.321000	0.28281	0.430000	0.21428	-0.593000	0.05844	0.655000	0.94253	TGG		0.388	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
TRPV6	55503	broad.mit.edu	37	7	142572296	142572296	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:142572296T>A	ENST00000359396.3	-	11	1645	c.1400A>T	c.(1399-1401)tAc>tTc	p.Y467F	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	467					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCGGGCGAAGTACATGACGTT	0.582																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.(1399-1401)tAc>tTc		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							129.0	119.0	123.0					7																	142572296		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572296T>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1400A>T	7.37:g.142572296T>A	ENSP00000352358:p.Tyr467Phe					TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	p.Y467F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			10	1629	-	Melanoma(164;0.059)		467					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1400A>T	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	T	15.91	2.973212	0.53614	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.85629	-2.01;-2.01	4.45	4.45	0.53987	Ion transport (1);	0.064020	0.64402	D	0.000004	D	0.82715	0.5097	L	0.56769	1.78	0.44834	D	0.997848	B	0.18741	0.03	B	0.35971	0.215	T	0.75456	-0.3311	10	0.19590	T	0.45	-21.1788	8.8652	0.35282	0.1669:0.0:0.0:0.8331	.	467	Q9H1D0	TRPV6_HUMAN	F	467;299;90	ENSP00000352358:Y467F;ENSP00000411100:Y90F	ENSP00000310825:Y299F	Y	-	2	0	TRPV6	142282418	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.846000	0.62860	2.006000	0.58801	0.533000	0.62120	TAC		0.582	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
ARHGEF5	7984	broad.mit.edu	37	7	144062310	144062310	+	Missense_Mutation	SNP	G	G	A	rs368131997		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:144062310G>A	ENST00000056217.5	+	2	2722	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	850					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCTCCCACCGAACCACCCCC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		34168	0.0		0.0	False		,,,				2504	0.0					uc003wel.3																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2548-2550)Gaa>Aaa		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.		G	LYS/GLU	3,4393		0,3,2195	24.0	30.0	28.0		2548	3.3	0.8	7		28	0,8572		0,0,4286	no	missense	ARHGEF5	NM_005435.3	56	0,3,6481	AA,AG,GG		0.0,0.0682,0.0231	probably-damaging	850/1598	144062310	3,12965	2198	4286	6484	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144062310G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2548G>A	7.37:g.144062310G>A	ENSP00000056217:p.Glu850Lys					ARHGEF5_uc003wek.3_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.3_5'Flank	p.E850K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			1	2666	+	Melanoma(164;0.14)		850					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.2548G>A	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715977	0.30413	6.82E-4	0.0	ENSG00000050327	ENST00000056217	T	0.74421	-0.84	4.27	3.29	0.37713	.	0.240671	0.26149	N	0.026050	T	0.53899	0.1825	N	0.24115	0.695	0.80722	D	1	B	0.28082	0.2	B	0.20184	0.028	T	0.52653	-0.8547	10	0.33940	T	0.23	-10.1338	6.2516	0.20850	0.1408:0.0:0.8592:0.0	.	850	Q12774	ARHG5_HUMAN	K	850	ENSP00000056217:E850K	ENSP00000056217:E850K	E	+	1	0	ARHGEF5	143693243	0.166000	0.22962	0.839000	0.33178	0.016000	0.09150	1.385000	0.34408	2.222000	0.72286	0.555000	0.69702	GAA		0.587	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	
ZNF786	136051	broad.mit.edu	37	7	148768162	148768162	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:148768162C>T	ENST00000491431.1	-	4	1766	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	ZNF786_ENST00000451334.3_Missense_Mutation_p.G531R|ZNF786_ENST00000316286.9_Missense_Mutation_p.G482R	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632																																						uc003wfh.2																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1702-1704)Ggg>Agg		Homo sapiens zinc finger protein 786 (ZNF786), mRNA.							21.0	23.0	22.0					7																	148768162		2174	4291	6465	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768162C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1702G>A	7.37:g.148768162C>T	ENSP00000417470:p.Gly568Arg					ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	p.G568R	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1839	-	Melanoma(164;0.15)		568					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.1702G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246942	0.01481	.	.	ENSG00000197362	ENST00000316286;ENST00000491431;ENST00000451334	T;T;T	0.03524	3.9;3.9;3.9	4.71	0.5	0.16919	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.887930	0.09337	N	0.816057	T	0.02193	0.0068	N	0.11818	0.18	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.47045	-0.9147	10	0.37606	T	0.19	-13.5597	3.8993	0.09154	0.0:0.341:0.3816:0.2774	.	568	Q8N393	ZN786_HUMAN	R	482;568;531	ENSP00000313516:G482R;ENSP00000417470:G568R;ENSP00000404984:G531R	ENSP00000313516:G482R	G	-	1	0	ZNF786	148399095	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.862000	0.01653	0.213000	0.20722	-0.150000	0.13652	GGG		0.632	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411	
HTR5A	3361	broad.mit.edu	37	7	154875908	154875908	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:154875908G>A	ENST00000287907.2	+	2	1361	c.785G>A	c.(784-786)cGc>cAc	p.R262H	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	262			R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	TTCACGGTCCGCCACGCCACC	0.607																																						uc003wlu.1																			0		p.R262C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48						c.(784-786)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.							73.0	61.0	65.0					7																	154875908		2203	4300	6503	SO:0001583	missense	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154875908G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.785G>A	7.37:g.154875908G>A	ENSP00000287907:p.Arg262His						p.R262H	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	849	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	262		R -> C (in a colorectal cancer sample; somatic mutation).			Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	c.785G>A	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	g	13.97	2.396099	0.42512	.	.	ENSG00000157219	ENST00000287907	T	0.72167	-0.63	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.288709	0.31071	N	0.008320	T	0.72350	0.3449	M	0.76170	2.325	0.80722	D	1	B	0.14012	0.009	B	0.19148	0.024	T	0.70468	-0.4863	10	0.41790	T	0.15	.	18.0042	0.89205	0.0:0.0:1.0:0.0	.	262	P47898	5HT5A_HUMAN	H	262	ENSP00000287907:R262H	ENSP00000287907:R262H	R	+	2	0	HTR5A	154506841	1.000000	0.71417	0.707000	0.30419	0.194000	0.23727	9.421000	0.97455	2.239000	0.73571	0.609000	0.83330	CGC		0.607	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
TEX15	56154	broad.mit.edu	37	8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:30701172G>A	ENST00000256246.2	-	1	5436	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1788					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343																																						uc003xil.3																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(5362-5364)Cga>Tga		Homo sapiens testis expressed 15 (TEX15), mRNA.							75.0	68.0	71.0					8																	30701172		2203	4300	6503	SO:0001587	stop_gained	56154							g.chr8:30701172G>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5362C>T	8.37:g.30701172G>A	ENSP00000256246:p.Arg1788*						p.R1788*	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	0	5362	-			1788						Nonsense_Mutation	SNP	ENST00000256246.2	37	c.5362C>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	45	11.274584	0.99540	.	.	ENSG00000133863	ENST00000256246	.	.	.	5.27	4.36	0.52297	.	0.000000	0.39909	N	0.001224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.1394	0.53989	0.0:0.0:0.6965:0.3034	.	.	.	.	X	1788	.	ENSP00000256246:R1788X	R	-	1	2	TEX15	30820714	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	2.785000	0.47782	2.448000	0.82819	0.650000	0.86243	CGA		0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
TRIM55	84675	broad.mit.edu	37	8	67040581	67040581	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:67040581G>T	ENST00000315962.4	+	2	584	c.211G>T	c.(211-213)Gca>Tca	p.A71S	TRIM55_ENST00000350034.4_Missense_Mutation_p.A71S|TRIM55_ENST00000353317.5_Missense_Mutation_p.A71S|TRIM55_ENST00000276573.7_Missense_Mutation_p.A71S	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	71					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TACCACCATGGCATCAGGGGG	0.493																																						uc003xvv.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(211-213)Gca>Tca		Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.							128.0	128.0	128.0					8																	67040581		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67040581G>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.211G>T	8.37:g.67040581G>T	ENSP00000323913:p.Ala71Ser					TRIM55_uc003xvu.3_Missense_Mutation_p.A71S|TRIM55_uc003xvw.3_Missense_Mutation_p.A71S|TRIM55_uc003xvx.3_Missense_Mutation_p.A71S	p.A71S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		1	437	+		Lung NSC(129;0.138)|all_lung(136;0.221)	71					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.211G>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226655	0.39300	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573;ENST00000350034	T;T;T;T	0.38401	1.57;1.62;1.57;1.14	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.045908	0.85682	D	0.000000	T	0.23806	0.0576	N	0.04297	-0.235	0.42164	D	0.99161	B;B;B;B	0.18610	0.021;0.029;0.012;0.018	B;B;B;B	0.26416	0.039;0.039;0.069;0.022	T	0.09885	-1.0654	10	0.27785	T	0.31	.	20.0795	0.97766	0.0:0.0:1.0:0.0	.	71;71;71;71	Q9BYV6-4;Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;.;TRI55_HUMAN;.	S	71	ENSP00000323913:A71S;ENSP00000297348:A71S;ENSP00000276573:A71S;ENSP00000332302:A71S	ENSP00000276573:A71S	A	+	1	0	TRIM55	67203135	1.000000	0.71417	0.996000	0.52242	0.793000	0.44817	4.754000	0.62191	2.747000	0.94245	0.650000	0.86243	GCA		0.493	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
ZHX2	22882	broad.mit.edu	37	8	123965254	123965254	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:123965254A>C	ENST00000314393.4	+	3	2339	c.1504A>C	c.(1504-1506)Acc>Ccc	p.T502P		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	502					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGTCCACATCACCAGCGAATC	0.572																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc022bag.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1504-1506)Acc>Ccc		Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.							82.0	67.0	72.0					8																	123965254		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965254A>C	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1504A>C	8.37:g.123965254A>C	ENSP00000314709:p.Thr502Pro					ZHX2_uc003ypk.1_Missense_Mutation_p.T502P	p.T502P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		0	1504	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		502						Missense_Mutation	SNP	ENST00000314393.4	37	c.1504A>C	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	8.376	0.836332	0.16891	.	.	ENSG00000178764	ENST00000314393	T	0.18960	2.18	5.7	5.7	0.88788	Homeodomain-related (1);Homeodomain-like (1);	0.090906	0.45867	D	0.000336	T	0.12050	0.0293	L	0.27053	0.805	0.34599	D	0.716302	B	0.12630	0.006	B	0.08055	0.003	T	0.24154	-1.0168	10	0.22109	T	0.4	-28.4487	3.967	0.09436	0.6679:0.1334:0.071:0.1278	.	502	Q9Y6X8	ZHX2_HUMAN	P	502	ENSP00000314709:T502P	ENSP00000314709:T502P	T	+	1	0	ZHX2	124034435	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	4.498000	0.60373	2.189000	0.69895	0.459000	0.35465	ACC		0.572	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943	
FER1L6	654463	broad.mit.edu	37	8	125110086	125110086	+	Silent	SNP	C	C	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:125110086C>A	ENST00000522917.1	+	37	5051	c.4845C>A	c.(4843-4845)atC>atA	p.I1615I	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I1615I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1615	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGAGAATATCTTCACAGGCC	0.408																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4843-4845)atC>atA		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.							116.0	109.0	111.0					8																	125110086		1920	4127	6047	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125110086C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4845C>A	8.37:g.125110086C>A						AK057332_uc003yqy.1_Intron	p.I1615I	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		36	5051	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1615			C2 6.			Silent	SNP	ENST00000522917.1	37	c.4845C>A	CCDS43767.1																																																																																				0.408	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
RAD23B	5887	broad.mit.edu	37	9	110084381	110084383	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:110084381_110084383delACA	ENST00000358015.3	+	7	1150_1152	c.799_801delACA	c.(799-801)acadel	p.T269del	RAD23B_ENST00000416373.2_In_Frame_Del_p.T197del	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	269	Poly-Thr.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCAACAACTACAACAACAAGTT	0.468								Direct reversal of damage;Nucleotide excision repair (NER)																														uc004bde.3																			0				breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(799-801)acadel	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	5887				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr9:110084381_110084383delACA		CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.799_801delACA	9.37:g.110084387_110084389delACA	ENSP00000350708:p.Thr269del					RAD23B_uc011lwa.2_In_Frame_Del_p.T269del|RAD23B_uc022blj.1_In_Frame_Del_p.T197del|RAD23B_uc011lwb.2_In_Frame_Del_p.T248del	p.T269del	NM_002874	NP_002865	P54727	RD23B_HUMAN			6	1193_1195	+			269			Poly-Thr.		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	In_Frame_Del	DEL	ENST00000358015.3	37	c.799_801delACA	CCDS6769.1																																																																																				0.468	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053548.1	NM_002874	
PTPN3	5774	broad.mit.edu	37	9	112153417	112153417	+	Splice_Site	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:112153417C>T	ENST00000374541.2	-	21	2211		c.e21+1		PTPN3_ENST00000497739.1_Splice_Site|PTPN3_ENST00000394827.3_Splice_Site|PTPN3_ENST00000446349.1_Splice_Site|PTPN3_ENST00000412145.1_Splice_Site|PTPN3_ENST00000262539.3_Splice_Site	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3						negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458																																						uc004bed.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.e21+1		Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.							108.0	82.0	91.0					9																	112153417		2203	4300	6503	SO:0001630	splice_region_variant	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112153417C>T		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2106+1G>A	9.37:g.112153417C>T						PTPN3_uc004beb.2_Splice_Site_p.N571_splice|PTPN3_uc004bec.2_Splice_Site_p.N526_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.N657_splice|PTPN3_uc011lwh.1_Splice_Site_p.N548_splice|PTPN3_uc011lwd.1_Splice_Site_p.N170_splice|PTPN3_uc011lwe.1_Splice_Site_p.N415_splice|PTPN3_uc011lwf.1_Splice_Site_p.N370_splice	p.N702_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN			21	2218	-			702			Tyrosine-protein phosphatase.		A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	ENST00000374541.2	37	c.2106_splice	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328963	0.81690	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN3	111193238	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	7.335000	0.79234	2.739000	0.93911	0.655000	0.94253	.		0.458	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		Intron
ARSF	416	broad.mit.edu	37	X	2994636	2994636	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:2994636A>C	ENST00000381127.1	+	4	430	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	ARSF_ENST00000359361.2_Missense_Mutation_p.Q70P|ARSF_ENST00000537104.1_Missense_Mutation_p.Q70P	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	70					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				CGACTGACTCAGCACATCTCT	0.637																																						uc022brz.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(208-210)cAg>cCg		Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.							59.0	39.0	46.0					X																	2994636		2203	4300	6503	SO:0001583	missense	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:2994636A>C	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.209A>C	X.37:g.2994636A>C	ENSP00000370519:p.Gln70Pro					ARSF_uc004cre.2_Missense_Mutation_p.Q70P|ARSF_uc004crf.2_Missense_Mutation_p.Q70P	p.Q70P	NM_001201538	NP_001188467	P54793	ARSF_HUMAN			3	345	+		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)	70					Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	c.209A>C	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	a	16.82	3.227890	0.58777	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.94046	-3.34;-3.34;-3.34	2.63	2.63	0.31362	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.210998	0.41823	U	0.000813	D	0.97673	0.9237	H	0.98487	4.245	0.49915	D	0.999837	D	0.76494	0.999	D	0.79784	0.993	D	0.97003	0.9730	10	0.62326	D	0.03	.	10.2788	0.43526	1.0:0.0:0.0:0.0	.	70	P54793	ARSF_HUMAN	P	70	ENSP00000370519:Q70P;ENSP00000445594:Q70P;ENSP00000352319:Q70P	ENSP00000352319:Q70P	Q	+	2	0	ARSF	3004636	1.000000	0.71417	0.002000	0.10522	0.009000	0.06853	7.206000	0.77891	0.887000	0.36136	0.231000	0.17811	CAG		0.637	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1		
PHKA1	5255	broad.mit.edu	37	X	71821869	71821869	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:71821869C>T	ENST00000373542.4	-	28	3203	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	PHKA1_ENST00000339490.3_Intron|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.R1015H|PHKA1_ENST00000373545.3_Missense_Mutation_p.R956H	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1015					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGACAGTCTACGAAATTCCAC	0.358																																						uc004eax.4																			0		p.R1015C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(3043-3045)cGt>cAt		Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.							101.0	85.0	90.0					X																	71821869		2203	4299	6502	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71821869C>T		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3044G>A	X.37:g.71821869C>T	ENSP00000362643:p.Arg1015His					PHKA1_uc004eay.4_Intron|PHKA1_uc011mqi.2_Intron	p.R1015H	NM_002637	NP_002628	P46020	KPB1_HUMAN			27	3345	-	Renal(35;0.156)		1015					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3044G>A	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909128	0.17833	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000373539	D;D;D	0.91011	-2.77;-2.76;-2.77	5.44	-0.504	0.11997	.	0.710692	0.14342	N	0.325676	D	0.85066	0.5612	L	0.38175	1.15	0.35651	D	0.811784	P	0.47484	0.896	B	0.43331	0.416	T	0.80650	-0.1288	10	0.46703	T	0.11	-0.3179	10.0144	0.42006	0.0:0.5489:0.0:0.4511	.	1015	P46020	KPB1_HUMAN	H	956;1015;1015	ENSP00000362646:R956H;ENSP00000362643:R1015H;ENSP00000362640:R1015H	ENSP00000362640:R1015H	R	-	2	0	PHKA1	71738594	0.670000	0.27512	0.196000	0.23383	0.717000	0.41224	-0.411000	0.07142	-0.675000	0.05246	-1.144000	0.01866	CGT		0.358	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1		
